Q96NT0
Gene name |
CCDC115 |
Protein name |
Coiled-coil domain-containing protein 115 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84317 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96NT0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96NT0-F1 | Predicted | AlphaFoldDB |
182 variants for Q96NT0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_075752 RCV000210765 RCV000208588 CA352168 rs869025583 |
11 | D>Y | CCDC115-CDG Congenital disorders of glycosylation type II CDG2O [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000208585 RCV001570443 RCV000210795 CA351426 VAR_075753 rs751325113 |
31 | L>S | CCDC115-CDG Congenital disorders of glycosylation type II CDG2O [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs752919660 RCV000514149 |
1 | M>V | No |
ClinVar dbSNP |
|
|
rs767209846 CA1871407 |
2 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1247164424 CA348488155 |
3 | A>T | No |
ClinGen gnomAD |
|
|
CA55520823 rs966809969 |
4 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1871405 rs759432544 |
4 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348488113 rs766377161 |
5 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs751429407 CA1871404 |
5 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1871403 rs766377161 |
5 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA348488102 rs763011464 |
6 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1871401 rs374624586 |
7 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348488082 COSM336164 rs1384694356 |
7 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA348488083 rs1384694356 COSM397162 |
7 | R>P | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA348488073 rs1427199474 |
8 | A>G | No |
ClinGen TOPMed |
|
|
CA348488061 rs769438903 |
9 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1871400 rs769438903 |
9 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348488034 rs869025583 |
11 | D>H | No |
ClinGen TOPMed |
|
|
CA1871398 rs776405320 |
12 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA348487977 rs1478332727 |
16 | Q>* | No |
ClinGen gnomAD |
|
|
rs746287541 CA1871396 |
16 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA55520765 rs976330400 |
16 | Q>R | No |
ClinGen Ensembl |
|
|
rs201206111 CA1871394 |
19 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1871391 rs756251999 |
24 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1404268290 CA348487823 |
25 | E>K | No |
ClinGen TOPMed |
|
|
CA348487786 rs1271656812 |
26 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748303723 CA1871390 |
27 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 27 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1871389 rs781526342 |
28 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA348487743 rs1573828602 |
29 | T>K | No |
ClinGen Ensembl |
|
|
rs150332171 CA1871387 |
31 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348487681 rs1466551163 |
33 | A>P | No |
ClinGen gnomAD |
|
|
CA1871385 rs750387342 |
35 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1871383 rs761461065 |
36 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764828737 CA1871384 |
36 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757177047 CA1871366 |
38 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs757177047 CA348487553 |
38 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA348487536 rs1441684745 |
39 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753340310 CA1871365 |
40 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348487508 rs1288188319 |
42 | L>F | No |
ClinGen TOPMed |
|
|
rs775073648 CA1871362 |
43 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775073648 CA348487497 |
43 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775073648 CA1871363 |
43 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279004969 CA348487473 |
44 | K>N | No |
ClinGen gnomAD |
|
|
rs766713863 CA1871361 |
45 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1871358 rs151154806 |
46 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151154806 CA1871359 |
46 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748620732 CA348487449 |
46 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1871357 rs748620732 |
46 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1871360 rs151154806 |
46 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776711440 CA1871356 |
47 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA348487405 rs1341606858 |
49 | M>I | No |
ClinGen gnomAD |
|
|
rs576449724 CA1871354 |
49 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281955724 CA348487414 |
49 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780475360 CA1871353 |
50 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs771965486 CA1871352 |
51 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA348487346 rs1159526997 |
53 | S>L | No |
ClinGen gnomAD |
|
|
rs1266096197 CA348487326 |
55 | G>E | No |
ClinGen TOPMed |
|
|
CA348487332 rs1218167117 |
55 | G>R | No |
ClinGen TOPMed |
|
|
rs914098043 CA55520479 |
56 | P>H | No |
ClinGen gnomAD |
|
|
rs914098043 CA55520478 |
56 | P>L | No |
ClinGen gnomAD |
|
|
rs914098043 CA348487315 |
56 | P>R | No |
ClinGen gnomAD |
|
|
rs1179518664 CA348487317 |
56 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1179518664 CA348487319 |
56 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348487285 rs1487215977 |
59 | Y>H | No |
ClinGen gnomAD |
|
|
rs1158374036 CA348487265 |
60 | A>T | No |
ClinGen TOPMed |
|
|
CA1871346 rs755635296 |
60 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs865959683 CA55520449 |
61 | S>C | No |
ClinGen TOPMed |
|
|
CA55520425 rs865959683 |
61 | S>F | No |
ClinGen TOPMed |
|
|
CA348487219 rs1287058157 |
63 | M>L | No |
ClinGen gnomAD |
|
|
rs1227246917 CA348487206 |
63 | M>R | No |
ClinGen gnomAD |
|
|
CA348487197 rs750733183 |
64 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs750733183 CA1871342 |
64 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1871343 rs750733183 |
64 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA55520410 rs910788027 |
65 | P>T | No |
ClinGen TOPMed |
|
|
rs1295713813 CA348487151 |
67 | V>I | No |
ClinGen gnomAD |
|
|
CA55520405 rs985824030 |
69 | L>F | No |
ClinGen Ensembl |
|
|
rs375016127 CA1871341 |
71 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs556226856 CA348487070 |
72 | S>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA55520398 rs556226856 |
72 | S>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1871303 rs756622601 |
73 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs756622601 CA1871302 |
73 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753324332 CA1871301 |
75 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA55520103 rs900139948 |
76 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs767693253 CA1871299 |
77 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs767693253 CA348486888 |
77 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1463302180 CA348486868 |
78 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1175115970 CA348486828 |
80 | K>M | No |
ClinGen gnomAD |
|
|
CA348486790 rs1558824052 |
82 | K>E | No |
ClinGen Ensembl |
|
|
CA348486783 rs1458922873 |
82 | K>R | No |
ClinGen TOPMed |
|
|
CA348486732 rs1176223874 |
85 | R>K | No |
ClinGen gnomAD |
|
|
CA348486708 rs1438596735 |
86 | A>S | No |
ClinGen gnomAD |
|
|
CA348486656 rs1251835017 |
90 | A>T | No |
ClinGen gnomAD |
|
|
rs766470497 CA1871295 |
93 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369013898 CA55520014 |
94 | V>M | No |
ClinGen ESP |
|
|
CA348486530 rs1183700794 |
96 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 98 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350318989 CA348486470 |
100 | G>R | No |
ClinGen gnomAD |
|
|
CA1871280 rs756608136 |
101 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs537888072 CA1871278 |
102 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1871277 rs537888072 |
102 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149024810 CA1871279 |
102 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1871275 rs201563607 |
104 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1290112347 CA348486328 |
104 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764934750 CA55519508 |
105 | K>T | No |
ClinGen Ensembl |
|
|
CA348486276 rs1477919871 |
106 | G>D | No |
ClinGen TOPMed |
|
|
CA1871274 rs369536260 |
106 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1871272 rs773550144 |
107 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs146642670 CA55519482 |
108 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146642670 CA1871271 |
108 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348486214 rs1426913550 |
109 | K>N | No |
ClinGen TOPMed |
|
|
rs1193406868 CA348486217 |
109 | K>R | No |
ClinGen gnomAD |
|
|
rs1366861462 CA348486205 |
110 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs761643164 CA348486195 |
111 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761643164 CA1871270 |
111 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208119028 CA348486159 |
113 | P>A | No |
ClinGen gnomAD |
|
|
rs199817813 CA1871269 |
113 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771683316 CA1871266 |
121 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1871264 rs368444053 |
122 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368444053 CA348485922 |
122 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770254912 CA1871262 |
125 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA348485821 rs1191278801 |
128 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1234689786 CA348485779 |
130 | V>G | No |
ClinGen TOPMed |
|
|
rs776504160 CA55519409 |
131 | P>S | No |
ClinGen TOPMed |
|
|
rs752107581 CA1871258 |
133 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558823073 CA348485718 |
133 | S>N | No |
ClinGen Ensembl |
|
|
rs1170400086 COSM1006489 CA348485692 |
135 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs141848427 CA1871257 |
135 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1871256 rs147226112 |
136 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1432847228 CA348485632 |
137 | A>V | No |
ClinGen gnomAD |
|
|
rs752987968 CA1871254 |
140 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA348485509 rs771007243 |
142 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771007243 CA1871252 |
142 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762047473 CA1871253 COSM1006488 |
142 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348485497 rs1451493908 |
143 | D>G | No |
ClinGen TOPMed |
|
| rs1284345073 | 145 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1871215 rs574461175 |
147 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348484476 rs1418691405 |
148 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1043988997 CA55518151 |
149 | A>E | No |
ClinGen TOPMed |
|
|
CA1871213 rs756325067 |
149 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752490144 CA55518147 |
151 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556764590 CA55518145 |
151 | I>T | No |
ClinGen gnomAD |
|
|
rs752490144 CA1871212 |
151 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1871211 rs767228003 |
154 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348484334 rs1418314912 |
155 | Q>H | No |
ClinGen gnomAD |
|
|
rs1371551675 CA348484342 |
155 | Q>P | No |
ClinGen TOPMed |
|
|
CA1871210 rs372325329 |
157 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765974155 CA1871208 |
157 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348484292 rs765974155 |
157 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1871209 rs765974155 |
157 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 159 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348484262 rs1192470250 |
159 | D>H | No |
ClinGen gnomAD |
|
|
CA348484206 rs1469301256 |
160 | W>* | No |
ClinGen gnomAD |
|
|
CA55518088 rs1028451832 |
160 | W>R | No |
ClinGen Ensembl |
|
|
COSM3787851 rs1275658715 CA348484198 |
161 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1871207 rs762600469 |
161 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348484181 rs772966334 |
162 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1871206 rs772966334 |
162 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764901188 CA1871205 |
164 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1254184186 CA348484127 |
165 | L>F | No |
ClinGen TOPMed |
|
|
CA348484105 rs1465308778 |
166 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs368677023 CA1871204 |
166 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA55517989 rs934048566 |
167 | G>* | No |
ClinGen TOPMed |
|
|
rs1462276996 CA348484068 |
168 | L>F | No |
ClinGen Ensembl |
|
|
rs772385622 CA55517974 |
168 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1871202 rs772385622 |
168 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573822535 CA348484056 |
169 | Q>E | No |
ClinGen Ensembl |
|
|
CA1871199 rs546945492 |
170 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1871200 rs546945492 |
170 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348483939 rs1376832060 |
174 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs375063387 CA1871197 |
174 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348483924 rs1170894329 |
175 | L>V | No |
ClinGen gnomAD |
|
|
rs1004157116 CA348483885 |
177 | P>A | No |
ClinGen TOPMed |
|
|
rs1004157116 CA55517946 |
177 | P>S | No |
ClinGen TOPMed |
|
|
rs1004157116 CA348483890 |
177 | P>T | No |
ClinGen TOPMed |
|
|
rs1392950988 CA348483858 |
178 | G>E | No |
ClinGen gnomAD |
|
|
CA1871195 rs148689294 |
180 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1871194 rs140831651 |
180 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
1 associated diseases with Q96NT0
[MIM: 616828]: Congenital disorder of glycosylation 2O (CDG2O)
A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability. {ECO:0000269|PubMed:26833332}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability. {ECO:0000269|PubMed:26833332}. Note=The disease is caused by variants affecting the gene represented in this entry.
12 regional properties for Q96NT0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 2 - 75 | IPR000504-1 |
| domain | RNA recognition motif domain | 81 - 156 | IPR000504-2 |
| domain | K Homology domain | 194 - 265 | IPR004087-1 |
| domain | K Homology domain | 275 - 348 | IPR004087-2 |
| domain | K Homology domain | 404 - 475 | IPR004087-3 |
| domain | K Homology domain | 486 - 558 | IPR004087-4 |
| domain | K Homology domain, type 1 | 198 - 262 | IPR004088-1 |
| domain | K Homology domain, type 1 | 280 - 344 | IPR004088-2 |
| domain | K Homology domain, type 1 | 409 - 471 | IPR004088-3 |
| domain | K Homology domain, type 1 | 490 - 554 | IPR004088-4 |
| domain | IGF2BP1, RNA recognition motif 1 | 1 - 77 | IPR034837 |
| domain | IGF2BP1, RNA recognition motif 2 | 81 - 156 | IPR034842 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| COPI-coated vesicle | A vesicle with a coat formed of the COPI coat complex proteins. COPI-coated vesicles are found associated with Golgi membranes at steady state, are involved in Golgi to endoplasmic reticulum (retrograde) vesicle transport, and possibly also in intra-Golgi transport. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum-Golgi intermediate compartment | A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extrinsic component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| vacuolar proton-transporting V-type ATPase complex | A proton-transporting two-sector ATPase complex found in the vacuolar membrane, where it acts as a proton pump to mediate acidification of the vacuolar lumen. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| unfolded protein binding | Binding to an unfolded protein. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular iron ion homeostasis | Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. |
| cellular response to increased oxygen levels | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting an increase in the level of oxygen. |
| lysosomal lumen acidification | Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion. |
| lysosomal protein catabolic process | Any cellular protein catabolic process that takes place in a lysosome. |
| vacuolar proton-transporting V-type ATPase complex assembly | The aggregation, arrangement and bonding together of a vacuolar proton-transporting V-type ATPase complex, proton-transporting two-sector ATPase complex that couples ATP hydrolysis to the transport of protons across the vacuolar membrane. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8VE99 | Ccdc115 | Coiled-coil domain-containing protein 115 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAALDLRAEL | DSLVLQLLGD | LEELEGKRTV | LNARVEEGWL | SLAKARYAMG | AKSVGPLQYA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SHMEPQVCLH | ASEAQEGLQK | FKVVRAGVHA | PEEVGPREAG | LRRRKGPTKT | PEPESSEAPQ |
| 130 | 140 | 150 | 160 | 170 | |
| DPLNWFGILV | PHSLRQAQAS | FRDGLQLAAD | IASLQNRIDW | GRSQLRGLQE | KLKQLEPGAA |