AiPD: Autoinhibited Protein Database

P27352

Gene name	CBLIF
Protein name	Cobalamin binding intrinsic factor
Names	Gastric intrinsic factor, Intrinsic factor, IF, INF
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2694
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

259-333 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

259-333 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

3 structures for P27352

Entry ID	Method	Resolution	Chain	Position	Source
2PMV	X-ray	260 A	A/B/C/D	19-417	PDB
3KQ4	X-ray	330 A	A/C/E	25-417	PDB
AF-P27352-F1	Predicted				AlphaFoldDB

346 variants for P27352

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs146699265 RCV001102722 CA6021708	9	L>P	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000949346 rs759872025 CA6021703	20	T>I	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs35211634 VAR_022742 RCV001650825 RCV000346011 RCV000001812 CA115167	23	Q>R	Intrinsic factor deficiency, congenital, susceptibility to Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001216403 CA6021672 rs139090732	28	V>I	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000001816 VAR_022743 rs121434322 CA115169	46	S>L	Variant assessed as Somatic; 0.0 impact. Hereditary intrinsic factor deficiency IFD [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs144916324 RCV000761773 RCV000380760 CA6021663	52	Y>N	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000001817 rs1590860794	54	N>missing	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV000756202 RCV000686858 rs765896727	61	M>missing	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinVar dbSNP
rs11825834 VAR_048753 RCV000756201 CA6021656 RCV001087965	65	G>R	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6021653 rs139444835 RCV000326236	73	K>R	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000779065 CA380804586 rs1565210437	78	Q>*	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs376339959 CA6021650 RCV001107954	80	M>T	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs115964827 RCV000389056 CA6021647	83	D>N	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6021616 RCV003114474 rs150884181 RCV000329880	97	M>T	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs796064508 RCV000190387 CA204386	116	Q>*	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs760404861 CA6021580 RCV000355995	127	A>T	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs770530971 RCV000190388	145	K>missing	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinVar dbSNP
CA223243743 rs781509423 RCV001341876	149	A>E	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs148081315 CA6021569 RCV000301157	152	P>L	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6021560 RCV000817705 rs200856492	161	L>R	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs886048404 RCV000259966 CA10639427	175	M>T	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001107297 rs1866524413	192	E>K	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV001029986 rs1590859406 CA380803638	221	G>R	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001344162 rs1866468089	252	M>L	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinVar dbSNP
CA6021482 RCV000354714 rs35867471 VAR_022744 RCV001706453	255	N>S	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756139879 CA6021480 RCV001219693	260	G>R	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ExAC ClinVar dbSNP
RCV000817247 CA6021474 rs138504371 RCV000994637	277	G>R	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs886048403 RCV000304596 CA10635079	278	K>N	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10639426 RCV000406602 rs886048402	285	Q>R	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA6021452 rs150926439 RCV000339589	304	P>S	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771992791 CA6021422 RCV001228258	352	R>H	Variant assessed as Somatic; 0.0 impact. Hereditary intrinsic factor deficiency [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001302432 CA6021421 rs201871926	355	P>R	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6021376 RCV001246936 COSM123357 rs370902375	377	A>V	upper_aerodigestive_tract Hereditary intrinsic factor deficiency [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs144070828 CA6021374 RCV000970751	380	V>I	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767310648 RCV000696019 CA6021368	388	F>S	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000001818 rs1590854624	393	T>missing	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinVar dbSNP
rs1565206584 RCV000705278	394	P>missing	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinVar dbSNP
rs766270119 CA6021365 RCV001104538	394	P>S	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA6021363 rs150005713 RCV001306153	397	E>V	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000695050 CA6021345 rs148989677	407	H>Q	Hereditary intrinsic factor deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1051439067 CA223245167	2	A>P		No	ClinGen TOPMed
rs1056854139 CA223245164	3	W>C		No	ClinGen Ensembl
rs199928364 CA6021710	5	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380805054 rs1175726040	6	L>F		No	ClinGen gnomAD
rs761457938 CA6021709	7	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs764005503 CA6021707	11	L>F		No	ClinGen ExAC gnomAD
CA380805016 rs1345389221	12	L>F		No	ClinGen Ensembl
CA6021705 rs775763593	14	A>V		No	ClinGen ExAC gnomAD
rs1479570100 CA380804987	16	A>V		No	ClinGen gnomAD
rs936918543 CA223245125	19	S>G		No	ClinGen TOPMed gnomAD
CA223245123 rs762525615	19	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1042390623 CA223245118	22	T>S		No	ClinGen TOPMed gnomAD
rs1181186603 CA380804945	23	Q>H		No	ClinGen TOPMed
CA6021702 rs771335774	24	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1253511246 CA380804929	26	C>R		No	ClinGen TOPMed
rs748924420 CA6021674	27	S>C		No	ClinGen ExAC gnomAD
rs748924420 CA380804907	27	S>F		No	ClinGen ExAC gnomAD
rs1427477249 CA380804885	31	A>G		No	ClinGen gnomAD
CA380804882 rs1172285573	32	Q>E		No	ClinGen TOPMed
rs752691248 CA6021671	33	E>K		No	ClinGen ExAC gnomAD
CA6021670 rs199656794	35	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751628349 CA6021668	36	V>I		No	ClinGen ExAC TOPMed gnomAD
rs751628349 CA223244666	36	V>L		No	ClinGen ExAC TOPMed gnomAD
CA223244654 rs901652055	37	N>I		No	ClinGen TOPMed
CA6021667 rs191614675	38	G>V		No	ClinGen 1000Genomes ExAC TOPMed
rs1590860833 CA380804821	41	V>A		No	ClinGen Ensembl
rs149030651 CA6021666	42	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430345048 CA380804815	42	L>H		No	ClinGen gnomAD
rs121434322 CA6021665	46	S>*		No	ClinGen ExAC TOPMed gnomAD
rs1280258125 CA380804785	47	V>M		No	ClinGen gnomAD
TCGA novel	50	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343354774 CA380804752	52	Y>C		No	ClinGen gnomAD
rs769192195 CA6021662	53	P>S		No	ClinGen ExAC TOPMed gnomAD
rs769192195 CA380804748	53	P>T		No	ClinGen ExAC TOPMed gnomAD
CA6021661 rs761224422	57	I>T		No	ClinGen ExAC gnomAD
rs1234298896 CA380804713	58	L>Q		No	ClinGen TOPMed
rs1166147570 CA380804706	59	I>T		No	ClinGen TOPMed gnomAD
CA6021660 rs773758355	60	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA223244599 rs1018117951	61	M>V		No	ClinGen Ensembl
CA6021659 rs770438297	62	N>S		No	ClinGen ExAC gnomAD
CA6021657 rs748900807	64	A>V		No	ClinGen ExAC gnomAD
rs759093695 CA6021655	67	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA6021654 rs200346359	68	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	71	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs577341460 CA6021652	74	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA380804589 CA380804590 rs1221812805 COSM689505	77	Y>*	Variant assessed as Somatic; impact. lung [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA380804580 rs1275732620	79	L>F		No	ClinGen gnomAD
rs376339959 CA6021651	80	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186062137 CA380804573	80	M>V		No	ClinGen TOPMed
rs758436528 CA6021649	82	S>G		No	ClinGen ExAC gnomAD
rs948421153 CA223244518	83	D>V		No	ClinGen Ensembl
rs761992703 CA6021646	84	N>D		No	ClinGen ExAC gnomAD
rs754251539	85	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs777817397 CA6021644	86	D>N		No	ClinGen ExAC TOPMed gnomAD
CA380804510 rs1444014198	87	L>R		No	ClinGen gnomAD
TCGA novel	88	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs180950604 CA6021622	89	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760086247 CA6021621	90	G>R		No	ClinGen ExAC gnomAD
CA380804492 rs1164085340	91	Q>K		No	ClinGen gnomAD
CA6021620 rs772894375	92	L>P		No	ClinGen ExAC gnomAD
CA223244140 rs967940953	93	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs746888455 CA6021615	98	A>T		No	ClinGen ExAC gnomAD
CA380804438 rs1284255970	99	L>P		No	ClinGen gnomAD
rs775116699 CA6021614	100	T>I		No	ClinGen ExAC gnomAD
TCGA novel	100	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449637876 CA380804436	100	T>P		No	ClinGen gnomAD
rs1297264045 CA380804431	101	S>P		No	ClinGen gnomAD
rs772097805 CA6021613	102	S>P		No	ClinGen ExAC gnomAD
rs150639344 CA6021612	104	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6021611 rs778998077	105	D>G		No	ClinGen ExAC gnomAD
CA6021609 rs749528399	106	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757263378 CA6021610	106	P>S		No	ClinGen ExAC gnomAD
CA380804390 rs1590860358	108	D>N		No	ClinGen Ensembl
CA380804371 rs1194656667	110	V>A		No	ClinGen gnomAD
rs371476220 CA223244096	111	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6021608 rs371476220	111	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs756282016 CA6021607	112	I>L		No	ClinGen ExAC TOPMed gnomAD
rs756282016 CA380804365	112	I>V		No	ClinGen ExAC TOPMed gnomAD
rs796064508 CA380804338	116	Q>K		No	ClinGen gnomAD
rs1290591283 CA380804323	118	E>Q		No	ClinGen gnomAD
CA380804314 rs1361218351	119	N>H		No	ClinGen TOPMed
CA380804305 rs1229526027	120	W>*		No	ClinGen gnomAD
CA223244058 rs959110204	120	W>R		No	ClinGen Ensembl
rs767753709 CA6021605	121	A>E		No	ClinGen ExAC gnomAD
rs1359272973 CA380804298	121	A>P		No	ClinGen gnomAD
CA223244045 rs773775464	123	S>P		No	ClinGen Ensembl
CA223243803 rs999307359	124	S>R		No	ClinGen Ensembl
rs868415065 CA223243802	125	P>R		No	ClinGen gnomAD
rs200473324 CA6021584	125	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6021582 rs763462155	126	N>K		No	ClinGen ExAC gnomAD
TCGA novel	126	N>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6021583 rs758942413	126	N>S		No	ClinGen ExAC gnomAD
rs760404861 CA380804254	127	A>P		No	ClinGen ExAC TOPMed gnomAD
rs950084452 CA223243791	127	A>V		No	ClinGen TOPMed gnomAD
rs1198710212 CA380804240	129	A>T		No	ClinGen gnomAD
TCGA novel	129	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369790024 CA6021579	131	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs767310443 CA6021578	132	F>C		No	ClinGen ExAC gnomAD
TCGA novel	132	F>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436498258 CA380804214	133	Y>C		No	ClinGen TOPMed
rs759380458 CA6021577	133	Y>H		No	ClinGen ExAC gnomAD
CA380804215 rs1436498258	133	Y>S		No	ClinGen TOPMed
CA6021576 rs774124626 COSM231248	134	G>E	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1287765208 COSM1661971 CA380804200	136	S>G	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1222468624 CA380804189	137	L>P		No	ClinGen gnomAD
TCGA novel	138	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776516305 CA223243784 COSM169768	138	A>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA6021574 rs762781889	140	L>S		No	ClinGen ExAC gnomAD
rs141917734 CA380804174	140	L>V		No	ClinGen ESP ExAC gnomAD
CA223243766 rs937388751	142	L>Q		No	ClinGen Ensembl
rs1361158441 CA380804146	144	Q>L		No	ClinGen gnomAD
CA380804111 rs1193740325	149	A>T		No	ClinGen gnomAD
CA6021570 rs781509423	149	A>V		No	ClinGen ExAC TOPMed gnomAD
CA223243733 rs942943565	150	T>A		No	ClinGen TOPMed
CA380804109 rs942943565	150	T>P		No	ClinGen TOPMed
CA380804095 rs1179182199	152	P>S		No	ClinGen gnomAD
rs1199432230 CA380804080	154	A>V		No	ClinGen gnomAD
rs1257466616 CA380804077	155	V>F		No	ClinGen gnomAD
rs1257466616 CA380804079 COSM1355038	155	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs374000712 CA6021565	156	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	156	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777339415 CA6021564	156	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6021561 rs767220489	157	F>I		No	ClinGen ExAC TOPMed gnomAD
CA6021562 rs767220489	157	F>L		No	ClinGen ExAC TOPMed gnomAD
CA380804059 rs1338726524	158	A>G		No	ClinGen gnomAD
rs1312067813 CA380804044	160	T>I		No	ClinGen gnomAD
rs1287347436 CA380804036	162	L>Q		No	ClinGen gnomAD
CA380804034 rs1417558852	163	A>P		No	ClinGen gnomAD
rs751408388 CA6021559	164	N>T		No	ClinGen ExAC TOPMed gnomAD
RCV000756203 rs766117701 CA6021558	166	S>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs749418863 CA223243624	167	P>A		No	ClinGen Ensembl
CA380803991 rs1319940040	169	N>K		No	ClinGen Ensembl
CA380803993 rs1421415077	169	N>S		No	ClinGen gnomAD
rs762982325 CA6021557	170	V>I		No	ClinGen ExAC gnomAD
rs1018320284 CA223243621	171	D>N		No	ClinGen Ensembl
rs761773560 CA6021537	172	T>A		No	ClinGen ExAC gnomAD
CA223243132 rs761773560	172	T>S		No	ClinGen ExAC gnomAD
CA6021536 rs776872892	175	M>V		No	ClinGen ExAC gnomAD
TCGA novel	176	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	180	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280401989 CA380803917	180	L>V		No	ClinGen gnomAD
CA6021534 rs760980454	183	M>I		No	ClinGen ExAC TOPMed gnomAD
CA380803884 rs1387305169	184	Y>*		No	ClinGen gnomAD
rs1314984648 CA380803877	185	N>K		No	ClinGen TOPMed
TCGA novel	186	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380803850 rs1328651208	189	V>A		No	ClinGen gnomAD
CA6021532 rs775795949	190	G>R		No	ClinGen ExAC gnomAD
CA380803840 rs1423821851	191	S>*		No	ClinGen gnomAD
rs1172377399 CA380803832	192	E>V		No	ClinGen gnomAD
CA6021531 rs375980909	194	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216181421 CA380803806	196	R>K		No	ClinGen TOPMed
CA380803798 rs1453797648	197	S>Y		No	ClinGen gnomAD
rs1236949407 CA380803775	201	Q>K		No	ClinGen gnomAD
CA380803766 rs1458285425	202	V>I		No	ClinGen gnomAD
rs746282268 CA6021530	203	L>R		No	ClinGen ExAC gnomAD
rs1489392724 CA380803757	204	K>E		No	ClinGen TOPMed
rs774742217 CA223270064	205	D>E		No	ClinGen ExAC TOPMed gnomAD
CA223270061 rs985121715	206	I>M		No	ClinGen Ensembl
rs771386419 CA6021528	206	I>T		No	ClinGen ExAC gnomAD
rs1242463087 CA380803738	207	V>M		No	ClinGen TOPMed
CA6021527 rs749750982	208	E>K		No	ClinGen ExAC TOPMed gnomAD
CA380803713 rs1180005990	210	I>T		No	ClinGen TOPMed
CA6021526 rs780716026	211	S>I		No	ClinGen ExAC gnomAD
CA380803701 rs1455240181	212	M>K		No	ClinGen gnomAD
CA6021525 rs754421228	212	M>L		No	ClinGen ExAC
rs746680425 CA6021524	213	K>R		No	ClinGen ExAC gnomAD
rs779633204 CA6021523	220	I>T		No	ClinGen ExAC TOPMed gnomAD
CA380803644 rs1400429615	220	I>V		No	ClinGen TOPMed gnomAD
rs1358279590 CA380803621	223	I>N		No	ClinGen TOPMed
rs374458119 CA380803605	225	S>I		No	ClinGen gnomAD
CA223270035 rs374458119	225	S>T		No	ClinGen gnomAD
rs765032516 CA6021520	229	A>S		No	ClinGen ExAC TOPMed gnomAD
CA223270029 rs765032516	229	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1565208515 CA380803546	232	A>V		No	ClinGen Ensembl
rs759712731 CA6021494	233	L>V		No	ClinGen ExAC gnomAD
CA6021493 rs770042905	234	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1565208505 CA380803533	235	V>A		No	ClinGen Ensembl
CA6021491 rs149355084	235	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6021492 rs149355084	235	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA223267557 rs1048065881	237	P>S		No	ClinGen TOPMed
CA380803509 rs1338035942	239	P>Q		No	ClinGen gnomAD
rs773563039 CA6021490	240	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA380803500 rs1401062936	241	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	242	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347451986 CA380803484	243	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1446568074 CA380803476	244	W>R		No	ClinGen TOPMed
rs201261367 CA6021489	245	N>K		No	ClinGen 1000Genomes ExAC TOPMed
CA380803449 rs1250187436	247	K>R		No	ClinGen TOPMed
rs774885583 CA6021487	248	K>R		No	ClinGen ExAC gnomAD
rs542431882 CA6021486	250	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542431882 CA6021485	250	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139320672 CA6021483	251	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs777684435 CA6021481	257	I>T		No	ClinGen ExAC gnomAD
CA380803375 rs1590857761	258	K>T		No	ClinGen Ensembl
rs142495062 CA223267498	259	Q>H		No	ClinGen ESP
rs752643448 CA6021479	263	H>R		No	ClinGen ExAC TOPMed gnomAD
CA223267479 rs979617516	263	H>Y		No	ClinGen TOPMed
CA223267464 rs983078302	265	P>L		No	ClinGen Ensembl
rs751581445 CA6021476	266	M>I		No	ClinGen ExAC gnomAD
CA223267461 rs748783434	266	M>R		No	ClinGen TOPMed gnomAD
CA380803319 rs748783434	266	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	270	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	280	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219570102 CA380803233	280	Y>H		No	ClinGen gnomAD
CA6021473 rs533802342	283	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA380803204 rs1565208429	284	P>L		No	ClinGen Ensembl
CA6021471 rs371638397	285	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA380803201 rs1436361762	285	Q>K		No	ClinGen gnomAD
TCGA novel	285	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777137202 CA6021470	287	T>A		No	ClinGen ExAC gnomAD
rs1333878202 CA380803140	292	H>D		No	ClinGen TOPMed
rs750604886 CA6021456	292	H>R		No	ClinGen ExAC TOPMed gnomAD
CA380803127 rs140790747	294	V>I		No	ClinGen ESP TOPMed gnomAD
rs140790747 CA223266596	294	V>L		No	ClinGen ESP TOPMed gnomAD
CA6021454 rs757696149	295	Q>K		No	ClinGen ExAC gnomAD
rs1177314941 CA380803115	296	P>T		No	ClinGen gnomAD
CA380803068 rs1226620474	303	G>C		No	ClinGen TOPMed
rs937613819 CA223266536	304	P>L		No	ClinGen gnomAD
rs761061578 CA6021451	305	G>S		No	ClinGen ExAC gnomAD
CA6021449 rs765943595	307	T>N		No	ClinGen ExAC gnomAD
rs1376877711 CA380803049	307	T>P		No	ClinGen gnomAD
rs1590857125 CA380803040	308	S>F		No	ClinGen Ensembl
rs762702852 CA6021448	308	S>P		No	ClinGen ExAC gnomAD
CA6021447 rs369102168	309	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA223266498 rs371443477	313	T>I		No	ClinGen ESP gnomAD
rs368702814 CA6021446	315	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs748045284 CA6021445	316	Y>H		No	ClinGen ExAC gnomAD
CA380802986 rs1590857103	317	T>N		No	ClinGen Ensembl
rs777010766 CA223266460	318	I>T		No	ClinGen TOPMed gnomAD
rs1472006354 CA380802982	318	I>V		No	ClinGen TOPMed
rs768689693 CA6021443	319	N>S		No	ClinGen ExAC gnomAD
rs201134554 CA6021442	321	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1271920214 CA380802949	323	R>W		No	ClinGen gnomAD
CA6021440 rs758414461	325	V>G		No	ClinGen ExAC gnomAD
TCGA novel	325	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486177156 CA380802928	326	E>G		No	ClinGen gnomAD
rs2867802 CA6021438	330	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6021436 rs754274619	331	E>K		No	ClinGen ExAC TOPMed
rs754274619 CA380802898	331	E>Q		No	ClinGen ExAC TOPMed
CA6021435 rs764314525	332	T>I		No	ClinGen ExAC gnomAD
CA380802888 rs764314525	332	T>N		No	ClinGen ExAC gnomAD
rs146744565 CA6021434	333	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6021432 rs766004847	334	N>I		No	ClinGen ExAC gnomAD
CA6021433 rs766004847	334	N>S		No	ClinGen ExAC gnomAD
rs1370463594 CA380802874	335	V>I		No	ClinGen TOPMed
CA223266394 rs772847173	337	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6021430 rs772847173	337	V>M		No	ClinGen ExAC TOPMed gnomAD
rs764983599 CA6021429	338	K>Q		No	ClinGen ExAC gnomAD
rs761351635 CA6021428	340	G>W		No	ClinGen ExAC TOPMed gnomAD
CA380802812 rs1359751907	344	L>R		No	ClinGen gnomAD
rs905392611 CA223266350	345	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs776509884 CA6021427	345	V>L		No	ClinGen ExAC gnomAD
rs762845250	346	V>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs760666658 CA6021424	349	E>D		No	ClinGen ExAC
CA380802788 rs1475314626	349	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA223266333 rs893748423	351	Q>E		No	ClinGen Ensembl
CA223266329 rs760332599	351	Q>R		No	ClinGen TOPMed gnomAD
rs143526872 CA6021423	352	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6021419 rs771204721	356	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1487519875 CA380802743	356	M>V		No	ClinGen gnomAD
rs749426928 CA6021418	358	K>E		No	ClinGen ExAC gnomAD
rs1200743223 CA380802726	358	K>T		No	ClinGen Ensembl
rs113040609 CA223263323	359	F>L		No	ClinGen Ensembl
CA380802690 rs1385551883	361	T>N		No	ClinGen TOPMed
CA6021390 rs756665699	362	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6021389 rs753383040	362	T>I		No	ClinGen ExAC gnomAD
rs760298108 CA380802684	363	M>L		No	ClinGen ExAC TOPMed gnomAD
rs760298108 CA6021387	363	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1236405652 CA380802675	364	T>A		No	ClinGen gnomAD
CA6021385 rs767255470	365	S>P		No	ClinGen ExAC gnomAD
CA380802660 rs1279473037	366	W>*		No	ClinGen gnomAD
rs774095520 CA6021383	366	W>R		No	ClinGen ExAC gnomAD
rs1342618237 CA380802662	366	W>S		No	ClinGen gnomAD
CA380802649 rs1486091100	368	L>F		No	ClinGen TOPMed
CA380802641 rs1234959476	369	V>A		No	ClinGen gnomAD
rs199655061 CA6021380	370	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6021381 rs199655061	370	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770193625 CA6021379	373	I>V		No	ClinGen ExAC gnomAD
CA6021377 rs139918773	377	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1278652263 CA380802568	381	N>H		No	ClinGen TOPMed gnomAD
rs758905592 CA6021373	382	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs777288222 CA6021371	383	K>N		No	ClinGen ExAC gnomAD
CA6021372 rs748798442	383	K>R		No	ClinGen ExAC gnomAD
rs1470563328 CA380802547	384	T>A		No	ClinGen gnomAD
CA380802539 rs1185728487	385	Y>C		No	ClinGen gnomAD
rs755791368 CA6021370	385	Y>N		No	ClinGen ExAC gnomAD
rs1440434494 CA380802533	386	W>G		No	ClinGen gnomAD
CA380802508 rs1349946295	389	L>H		No	ClinGen gnomAD
TCGA novel	389	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751368005 CA6021366	391	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1454037542 CA380802497	391	G>S		No	ClinGen TOPMed
CA380802488 rs1590854620	392	V>A		No	ClinGen Ensembl
CA380802465 rs1242129221	396	N>S		No	ClinGen gnomAD
rs1319732044 CA380802434	399	V>F		No	ClinGen TOPMed
CA6021347 rs758300388	403	I>T		No	ClinGen ExAC gnomAD
CA380802398 rs1460997213	404	P>R		No	ClinGen gnomAD
rs866762849 CA223261349	407	H>L		No	ClinGen Ensembl
rs1395405487 CA380802378	407	H>Y		No	ClinGen gnomAD
CA223261325 rs993761602	408	E>K		No	ClinGen gnomAD
CA6021344 rs762043241	409	H>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380802365 rs1185755777	409	H>P		No	ClinGen TOPMed gnomAD
rs1185755777 CA380802364	409	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA380802348 rs1315283307	411	T>I		No	ClinGen TOPMed
rs1243835317 CA380802336	413	N>S		No	ClinGen gnomAD
rs1590853479 CA380802320	415	T>I		No	ClinGen Ensembl
rs1211215396 CA380802303	418	Y>Q		No	ClinGen gnomAD

1 associated diseases with P27352

[MIM: 261000]: Hereditary intrinsic factor deficiency (IFD)

Autosomal recessive disorder characterized by megaloblastic anemia. {ECO:0000269|PubMed:15738392}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

Autosomal recessive disorder characterized by megaloblastic anemia. {ECO:0000269|PubMed:15738392}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P27352

Type	Name	Position	InterPro Accession
domain	Domain of unknown function DUF4430	340 - 415	IPR027954

Functions

		Description
EC Number
Subcellular Localization	Secreted
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
external side of apical plasma membrane	The leaflet the apical region of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
lysosomal lumen	The volume enclosed within the lysosomal membrane.
microvillus	Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.

2 GO annotations of molecular function

Name	Definition
cargo receptor ligand activity	The activity of a gene product that interacts with a cargo receptor and initiates endocytosis.
cobalamin binding	Binding to cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.

3 GO annotations of biological process

Name	Definition
cobalamin metabolic process	The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.
cobalamin transport	The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cobalt ion transport	The directed movement of cobalt (Co) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5XWD5	CBLIF	Cobalamin binding intrinsic factor	Canis lupus familiaris (Dog) (Canis familiaris)	PR

10	20	30	40	50	60
MAWFALYLLS	LLWATAGTST	QTQSSCSVPS	AQEPLVNGIQ	VLMENSVTSS	AYPNPSILIA
70	80	90	100	110	120
MNLAGAYNLK	AQKLLTYQLM	SSDNNDLTIG	QLGLTIMALT	SSCRDPGDKV	SILQRQMENW
130	140	150	160	170	180
APSSPNAEAS	AFYGPSLAIL	ALCQKNSEAT	LPIAVRFAKT	LLANSSPFNV	DTGAMATLAL
190	200	210	220	230	240
TCMYNKIPVG	SEEGYRSLFG	QVLKDIVEKI	SMKIKDNGII	GDIYSTGLAM	QALSVTPEPS
250	260	270	280	290	300
KKEWNCKKTT	DMILNEIKQG	KFHNPMSIAQ	ILPSLKGKTY	LDVPQVTCSP	DHEVQPTLPS
310	320	330	340	350	360
NPGPGPTSAS	NITVIYTINN	QLRGVELLFN	ETINVSVKSG	SVLLVVLEEA	QRKNPMFKFE
370	380	390	400	410
TTMTSWGLVV	SSINNIAENV	NHKTYWQFLS	GVTPLNEGVA	DYIPFNHEHI	TANFTQY