AiPD: Autoinhibited Protein Database

Q16548

Gene name	BCL2A1 (BCL2L5, BFL1, GRS, HBPA1)
Protein name	Bcl-2-related protein A1
Names	Bcl-2-like protein 5, Bcl2-L-5, Hemopoietic-specific early response protein, Protein BFL-1, Protein GRS
Species	Homo sapiens (Human)
KEGG Pathway	hsa:597
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-75 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-75 (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

16 structures for Q16548

Entry ID	Method	Resolution	Chain	Position	Source
2VM6	X-ray	220 A	A	1-149	PDB
3I1H	X-ray	220 A	A	1-151	PDB
3MQP	X-ray	224 A	A	1-151	PDB
4ZEQ	X-ray	180 A	A	1-151	PDB
5UUK	X-ray	120 A	A	1-151	PDB
5UUL	X-ray	133 A	A	1-151	PDB
5UUP	X-ray	173 A	A	1-151	PDB
5WHH	X-ray	238 A	A	1-151	PDB
5WHI	X-ray	169 A	A	1-151	PDB
6E3I	X-ray	148 A	A	1-151	PDB
6E3J	X-ray	148 A	A	1-151	PDB
6MBB	X-ray	159 A	A	1-151	PDB
6MBC	X-ray	175 A	A	1-151	PDB
6RJP	X-ray	257 A	A/B	1-149	PDB
6VO4	X-ray	174 A	A	1-151	PDB
AF-Q16548-F1	Predicted				AlphaFoldDB

113 variants for Q16548

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1416903926 CA393618256	2	T>S		No	ClinGen gnomAD
rs1232902110 CA393618241	3	D>Y		No	ClinGen TOPMed
CA7690769 rs553545563	6	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393618187 rs553545563	6	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7690767 rs539603682	9	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1336201882 CA393618082	13	A>G		No	ClinGen gnomAD
CA393618088 rs1272971577	13	A>T		No	ClinGen TOPMed
rs1338698089 CA393618035	16	Y>H		No	ClinGen Ensembl
VAR_020342 CA7690766 rs1138357	19	C>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7690764 rs776279670	20	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7690761 rs199684962	22	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393617827 rs1489558306	25	Q>H		No	ClinGen gnomAD
rs1415196179 CA393617777	28	S>*		No	ClinGen TOPMed
rs923707919 CA274011715	30	P>S		No	ClinGen TOPMed
CA393617736 rs1163595459	31	S>G		No	ClinGen TOPMed
rs1443001456 CA393617725	31	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	31	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7690760 rs766754775	32	K>R		No	ClinGen ExAC gnomAD
rs760991096 CA7690759	33	T>M		No	ClinGen ExAC gnomAD
rs1335986856 CA393617658	35	R>G		No	ClinGen Ensembl
CA7690757 rs138003376	35	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA393617591 rs1567025149	38	Q>E		No	ClinGen Ensembl
TCGA novel	38	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1138358 VAR_020343 CA7690754 CA393617561	39	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
TCGA novel	40	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469288885 CA393617551	40	V>F		No	ClinGen gnomAD
CA393617533 rs199751349	41	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7690753 rs199751349	41	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1335813650 CA393617473	44	V>I		No	ClinGen gnomAD
rs1486894546 CA393617462	45	Q>K		No	ClinGen gnomAD
CA393617450 rs1261476920	45	Q>L		No	ClinGen gnomAD
rs960917578 CA274011679	48	V>M		No	ClinGen TOPMed gnomAD
rs377180961 CA7690750	50	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1483131461 CA393617274 COSM965497 COSM1152884	55	C>R	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA393617228 rs1319845889	57	D>G		No	ClinGen gnomAD
TCGA novel	57	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209525038 CA393617211	58	N>D		No	ClinGen TOPMed
rs141166047 CA7690748	58	N>S		No	ClinGen ESP ExAC gnomAD
rs779060496 CA7690746	61	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7690743 rs528610623	64	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	65	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390025854 CA393617066	70	L>V		No	ClinGen gnomAD
rs767142493 CA7690739	72	N>S		No	ClinGen ExAC TOPMed gnomAD
rs767142493 CA393617035	72	N>T		No	ClinGen ExAC TOPMed gnomAD
CA7690738 rs761533059	73	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	75	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393617000 rs1199987311	75	M>V		No	ClinGen gnomAD
rs3826007 VAR_020344 CA7690735	82	G>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7690736 rs763690382	82	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1269466130 CA393616838	86	W>S		No	ClinGen gnomAD
TCGA novel	89	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7690734 rs775618108	91	T>I		No	ClinGen ExAC gnomAD
TCGA novel	91	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769836962 CA7690733	92	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1454292126 CA393616734	94	A>S		No	ClinGen TOPMed gnomAD
CA7690732 rs142667711	99	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA393616620 rs1314333936 CA393616622	101	K>N		No	ClinGen TOPMed gnomAD
CA7690730 rs770572475	105	R>*		No	ClinGen ExAC gnomAD
CA7690729 rs138123718	105	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA274011555 rs1043251851	106	Q>*		No	ClinGen Ensembl
rs866199356 CA274011553	106	Q>P		No	ClinGen Ensembl
CA7690727 rs143571009 COSM2011585 COSM2011584	110	P>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs372157153 CA7690728	110	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA393616496 rs1474286281	111	D>E		No	ClinGen gnomAD
TCGA novel	111	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260590750 CA393616494	112	V>M		No	ClinGen TOPMed
CA7690724 rs756609799	113	D>G		No	ClinGen ExAC gnomAD
CA7690722 rs781632051	116	K>E		No	ClinGen ExAC gnomAD
rs34080999 VAR_044059 CA7690720	117	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7690719 rs150435550	119	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs866382665 CA274011499	119	S>L		No	ClinGen Ensembl
rs11555732 CA274011482	120	Y>F		No	ClinGen Ensembl
rs762610620 CA7690717	122	V>A		No	ClinGen ExAC gnomAD
TCGA novel	122	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1184584 rs1353033250 CA393616356 COSM1184583	123	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1415008780 CA393616340	124	E>D		No	ClinGen TOPMed gnomAD
CA7690713 rs764769476	126	I>V		No	ClinGen ExAC TOPMed gnomAD
CA393616295 rs1412023623	127	M>I		No	ClinGen TOPMed gnomAD
rs1327246981 CA393616312	127	M>L		No	ClinGen gnomAD
rs759556690 CA7690712	128	N>S		No	ClinGen ExAC gnomAD
CA274011417 rs367633222	131	G>V		No	ClinGen ESP
TCGA novel	132	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7690710 rs770793891	132	E>D		No	ClinGen ExAC gnomAD
CA274011408 rs760359019	134	I>L		No	ClinGen ExAC gnomAD
CA7690709 rs760359019	134	I>V		No	ClinGen ExAC gnomAD
CA393616148 rs1567024950	138	G>A		No	ClinGen Ensembl
rs1472374244 CA393616156	138	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1179344066 CA393616143	139	G>D		No	ClinGen gnomAD
CA393616146 rs1231417096	139	G>S		No	ClinGen gnomAD
CA7690664 rs770984302	142	N>S		No	ClinGen ExAC TOPMed gnomAD
CA393614280 rs770984302	142	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	143	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	144	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747492220 CA7690663	145	V>A		No	ClinGen ExAC gnomAD
CA393614254 rs747492220	145	V>E		No	ClinGen ExAC gnomAD
TCGA novel	145	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773813106 CA7690661	148	F>L		No	ClinGen ExAC TOPMed gnomAD
CA393614233 rs773813106	148	F>V		No	ClinGen ExAC TOPMed gnomAD
CA7690659 rs576131039	150	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393614216 rs1365958314	150	P>R		No	ClinGen TOPMed
CA393614218 rs576131039	150	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7690657 rs778766784	151	K>E		No	ClinGen ExAC gnomAD
CA274005083 rs144574997	151	K>N		No	ClinGen ESP TOPMed
rs1486485052 CA393614208	152	S>P		No	ClinGen gnomAD
TCGA novel	158	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754583380 CA7690656	160	V>I		No	ClinGen ExAC gnomAD
CA393614128 rs1443057090	163	K>N		No	ClinGen TOPMed
rs1283639312 CA393614120	164	I>M		No	ClinGen TOPMed
rs779447287 CA393614096 CA7690654	167	M>I		No	ClinGen ExAC TOPMed gnomAD
CA393614082 rs1202772541	170	L>H		No	ClinGen gnomAD
CA7690650 rs767418595	170	L>V		No	ClinGen ExAC gnomAD
CA7690648 rs751347105	175	C>R		No	ClinGen ExAC gnomAD
CA7690647 rs371180356	175	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q16548

3 regional properties for Q16548

Type	Name	Position	InterPro Accession
conserved_site	Apoptosis regulator, Bcl-2, BH1 motif, conserved site	78 - 97	IPR020717
conserved_site	Apoptosis regulator, Bcl-2, BH2 motif, conserved site	133 - 144	IPR020726
domain	Bcl-2, Bcl-2 homology region 1-3	37 - 140	IPR046371

Functions

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

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrial outer membrane	The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.

2 GO annotations of molecular function

Name	Definition
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

3 GO annotations of biological process

Name	Definition
extrinsic apoptotic signaling pathway in absence of ligand	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with withdrawal of a ligand from a cell surface receptor, and ends when the execution phase of apoptosis is triggered.
intrinsic apoptotic signaling pathway in response to DNA damage	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07817	BCL2L1	Bcl-2-like protein 1	Homo sapiens (Human)	PR
Q64373	Bcl2l1	Bcl-2-like protein 1	Mus musculus (Mouse)	PR
O77737	BCL2L1	Bcl-2-like protein 1	Sus scrofa (Pig)	PR
P53563	Bcl2l1	Bcl-2-like protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTDCEFGYIY	RLAQDYLQCV	LQIPQPGSGP	SKTSRVLQNV	AFSVQKEVEK	NLKSCLDNVN
70	80	90	100	110	120
VVSVDTARTL	FNQVMEKEFE	DGIINWGRIV	TIFAFEGILI	KKLLRQQIAP	DVDTYKEISY
130	140	150	160	170
FVAEFIMNNT	GEWIRQNGGW	ENGFVKKFEP	KSGWMTFLEV	TGKICEMLSL	LKQYC