Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ICA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ICA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | PICK1-ICA69 heteromeric BAR domain complex regulates synaptic targeting and surface expression of AMPA receptors. | Cao M, etal., J Neurosci. 2007 Nov 21;27(47):12945-56. |
2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
3. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
4. | Reduced thymic expression of islet antigen contributes to loss of self-tolerance. | Mathews CE, etal., Ann N Y Acad Sci. 2003 Nov;1005:412-7. |
5. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
6. | Cloning of human and rat p69 cDNA, a candidate autoimmune target in type 1 diabetes. | Miyazaki I, etal., Biochim Biophys Acta 1994 Oct 21;1227(1-2):101-4. |
7. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
8. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
9. | GOA pipeline | RGD automated data pipeline |
10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
12. | HLA-associated inverse correlation between T cell and antibody responsiveness to islet autoantigen in recent-onset insulin-dependent diabetes mellitus. | Roep BO, etal., Eur J Immunol. 1996 Jun;26(6):1285-9. |
13. | Islet cell autoantigen of 69 kDa is an arfaptin-related protein associated with the Golgi complex of insulinoma INS-1 cells. | Spitzenberger F, etal., J Biol Chem 2003 Jul 11;278(28):26166-73. |
14. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
15. | ICA69(null) nonobese diabetic mice develop diabetes, but resist disease acceleration by cyclophosphamide. | Winer S, etal., J Immunol. 2002 Jan 1;168(1):475-82. |
PMID:11029035 | PMID:15489334 | PMID:17213368 | PMID:20530722 | PMID:25392508 | PMID:29768204 |
Ica1 (Rattus norvegicus - Norway rat) |
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ICA1 (Homo sapiens - human) |
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Ica1 (Mus musculus - house mouse) |
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Ica1 (Chinchilla lanigera - long-tailed chinchilla) |
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ICA1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ICA1 (Canis lupus familiaris - dog) |
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Ica1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ICA1 (Sus scrofa - pig) |
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ICA1 (Chlorocebus sabaeus - green monkey) |
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Ica1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Ica1
705 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D4Got205 |
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BF419765 |
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AA800371 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 26 | 27 | 19 | 19 | 68 | 33 | 20 | 11 | ||||
Low | 17 | 30 | 22 | 19 | 22 | 8 | 11 | 6 | 2 | 21 | 8 | ||
Below cutoff |
RefSeq Transcripts | NM_030844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006236092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006236093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006236094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006236095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008762728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039108416 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063286738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063286739 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063286740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063286741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063286742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063286743 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC063810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC078812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L20900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000011651 ⟹ ENSRNOP00000011651 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000077329 ⟹ ENSRNOP00000075191 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000100899 ⟹ ENSRNOP00000086969 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000118007 ⟹ ENSRNOP00000095862 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_030844 ⟹ NP_110471 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006236092 ⟹ XP_006236154 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006236093 ⟹ XP_006236155 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006236094 ⟹ XP_006236156 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006236095 ⟹ XP_006236157 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039108416 ⟹ XP_038964344 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063286738 ⟹ XP_063142808 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063286739 ⟹ XP_063142809 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063286740 ⟹ XP_063142810 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063286741 ⟹ XP_063142811 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063286742 ⟹ XP_063142812 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063286743 ⟹ XP_063142813 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_110471 | (Get FASTA) | NCBI Sequence Viewer |
XP_006236154 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006236155 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006236156 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006236157 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038964344 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063142808 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063142809 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063142810 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063142811 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063142812 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063142813 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA64909 | (Get FASTA) | NCBI Sequence Viewer |
AAH63810 | (Get FASTA) | NCBI Sequence Viewer | |
AAH78812 | (Get FASTA) | NCBI Sequence Viewer | |
EDM15065 | (Get FASTA) | NCBI Sequence Viewer | |
EDM15066 | (Get FASTA) | NCBI Sequence Viewer | |
EDM15067 | (Get FASTA) | NCBI Sequence Viewer | |
EDM15068 | (Get FASTA) | NCBI Sequence Viewer | |
EDM15069 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000011651.5 | ||
ENSRNOP00000075191 | |||
ENSRNOP00000075191.1 | |||
ENSRNOP00000086969 | |||
ENSRNOP00000086969.1 | |||
ENSRNOP00000095862 | |||
ENSRNOP00000095862.1 | |||
ENSRNOP00055002370 | |||
ENSRNOP00060000307 | |||
ENSRNOP00065012516 | |||
GenBank Protein | Q63054 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_110471 ⟸ NM_030844 |
- UniProtKB: | Q6P3W0 (UniProtKB/Swiss-Prot), Q63054 (UniProtKB/Swiss-Prot), Q6AZ05 (UniProtKB/TrEMBL), A6IDX8 (UniProtKB/TrEMBL), A0A0G2K9Z2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006236157 ⟸ XM_006236095 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6P3W0 (UniProtKB/Swiss-Prot), Q63054 (UniProtKB/Swiss-Prot), Q6AZ05 (UniProtKB/TrEMBL), A6IDX8 (UniProtKB/TrEMBL), A0A0G2K9Z2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006236156 ⟸ XM_006236094 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6P3W0 (UniProtKB/Swiss-Prot), Q63054 (UniProtKB/Swiss-Prot), Q6AZ05 (UniProtKB/TrEMBL), A6IDX8 (UniProtKB/TrEMBL), A0A0G2K9Z2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006236154 ⟸ XM_006236092 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6P3W0 (UniProtKB/Swiss-Prot), Q63054 (UniProtKB/Swiss-Prot), Q6AZ05 (UniProtKB/TrEMBL), A6IDX8 (UniProtKB/TrEMBL), A0A0G2K9Z2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006236155 ⟸ XM_006236093 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6P3W0 (UniProtKB/Swiss-Prot), Q63054 (UniProtKB/Swiss-Prot), Q6AZ05 (UniProtKB/TrEMBL), A6IDX8 (UniProtKB/TrEMBL), A0A0G2K9Z2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000011651 ⟸ ENSRNOT00000011651 |
RefSeq Acc Id: | ENSRNOP00000075191 ⟸ ENSRNOT00000077329 |
RefSeq Acc Id: | XP_038964344 ⟸ XM_039108416 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I6A739 (UniProtKB/TrEMBL), A6IDX7 (UniProtKB/TrEMBL), F7FFT7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000095862 ⟸ ENSRNOT00000118007 |
RefSeq Acc Id: | ENSRNOP00000086969 ⟸ ENSRNOT00000100899 |
RefSeq Acc Id: | XP_063142810 ⟸ XM_063286740 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I6A739 (UniProtKB/TrEMBL), A6IDX7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063142808 ⟸ XM_063286738 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A0G2K9Z2 (UniProtKB/TrEMBL), A6IDX8 (UniProtKB/TrEMBL), Q6AZ05 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063142812 ⟸ XM_063286742 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I6A739 (UniProtKB/TrEMBL), A6IDX7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063142811 ⟸ XM_063286741 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I6A739 (UniProtKB/TrEMBL), A6IDX7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063142809 ⟸ XM_063286739 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I6A739 (UniProtKB/TrEMBL), A6IDX7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063142813 ⟸ XM_063286743 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I6A739 (UniProtKB/TrEMBL), A6IDX7 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q63054-F1-model_v2 | AlphaFold | Q63054 | 1-480 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13692880 | ||||||||
Promoter ID: | EPDNEW_R3400 | ||||||||
Type: | initiation region | ||||||||
Name: | Ica1_1 | ||||||||
Description: | islet cell autoantigen 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_R3401 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 13692876 | ||||||||
Promoter ID: | EPDNEW_R3401 | ||||||||
Type: | initiation region | ||||||||
Name: | Ica1_2 | ||||||||
Description: | islet cell autoantigen 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_R3400 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:621465 | AgrOrtholog |
BioCyc Gene | G2FUF-45658 | BioCyc |
Ensembl Genes | ENSRNOG00000008628 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSRNOG00055001922 | UniProtKB/Swiss-Prot | |
ENSRNOG00060000801 | UniProtKB/Swiss-Prot | |
ENSRNOG00065010159 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000011651.6 | UniProtKB/TrEMBL |
ENSRNOT00000077329.2 | UniProtKB/TrEMBL | |
ENSRNOT00000100899.1 | UniProtKB/TrEMBL | |
ENSRNOT00000118007.1 | UniProtKB/TrEMBL | |
ENSRNOT00055003159 | UniProtKB/Swiss-Prot | |
ENSRNOT00060000985 | UniProtKB/Swiss-Prot | |
ENSRNOT00065016471 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.20.1270.60 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IMAGE_CLONE | IMAGE:6921600 | IMAGE-MGC_LOAD |
IMAGE:7112043 | IMAGE-MGC_LOAD | |
InterPro | AH/BAR_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AH_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Islet_autoAg_Ica1/Ica1-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Islet_autoAg_Ica1_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:81024 | UniProtKB/TrEMBL |
MGC_CLONE | MGC:72803 | IMAGE-MGC_LOAD |
MGC:93403 | IMAGE-MGC_LOAD | |
NCBI Gene | 81024 | ENTREZGENE |
PANTHER | PTHR10164 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR10164:SF3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Arfaptin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ICA69 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Ica1 | PhenoGen |
PROSITE | PS50870 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000008628 | RatGTEx |
ENSRNOG00055001922 | RatGTEx | |
ENSRNOG00060000801 | RatGTEx | |
ENSRNOG00065010159 | RatGTEx | |
SMART | Arfaptin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ICA69 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF103657 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0G2K9Z2 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I6A739 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I6AQ00_RAT | UniProtKB/TrEMBL | |
A6IDX7 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IDX8 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IDY0_RAT | UniProtKB/TrEMBL | |
A6IDY2_RAT | UniProtKB/TrEMBL | |
F7FFT7 | ENTREZGENE, UniProtKB/TrEMBL | |
ICA69_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q6AZ05 | ENTREZGENE | |
Q6P3W0 | ENTREZGENE | |
UniProt Secondary | Q6AZ05 | UniProtKB/TrEMBL |
Q6P3W0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2005-01-20 | Ica1 | islet cell autoantigen 1 | islet cell autoantigen 1, 69 kDa | Name updated | 1299863 | APPROVED | |
2002-08-07 | Ica1 | islet cell autoantigen 1, 69 kDa | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_cellular_localization | associated with membrane trafficking at the Golgi complex and immature secretory granules in neurosecretory cells | 633043 |
gene_cellular_localization | associated with membrane trafficking at the Golgi complex and immature secretory granules in neurosecretory cells | 724603 |
gene_expression | expressed in neurons and insulinoma INS-1 cells | 724603 |
gene_protein | cytosolic protein 69 kDa in size | 724603 |