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Protein

Islet cell autoantigen 1

Gene

ICA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May play a role in neurotransmitter secretion.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processNeurotransmitter transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Islet cell autoantigen 1
Alternative name(s):
69 kDa islet cell autoantigen
Short name:
ICA69
Islet cell autoantigen p69
Short name:
ICAp69
Short name:
p69
Gene namesi
Name:ICA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000003147.17
HGNCiHGNC:5343 ICA1
MIMi147625 gene
neXtProtiNX_Q05084

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoplasmic vesicle, Golgi apparatus, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi3382
OpenTargetsiENSG00000003147
PharmGKBiPA29591

Polymorphism and mutation databases

BioMutaiICA1
DMDMi20141584

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000841301 – 483Islet cell autoantigen 1Add BLAST483

Proteomic databases

MaxQBiQ05084
PaxDbiQ05084
PeptideAtlasiQ05084
PRIDEiQ05084

PTM databases

iPTMnetiQ05084
PhosphoSitePlusiQ05084

Expressioni

Tissue specificityi

Expressed abundantly in pancreas, heart and brain with low levels of expression in lung, kidney, liver and thyroid.

Gene expression databases

BgeeiENSG00000003147
CleanExiHS_ICA1
ExpressionAtlasiQ05084 baseline and differential
GenevisibleiQ05084 HS

Organism-specific databases

HPAiHPA017646
HPA061452

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109609, 14 interactors
IntActiQ05084, 9 interactors
STRINGi9606.ENSP00000379908

Structurei

3D structure databases

ProteinModelPortaliQ05084
SMRiQ05084
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini51 – 254AHPROSITE-ProRule annotationAdd BLAST204

Phylogenomic databases

eggNOGiKOG3891 Eukaryota
ENOG410YJKW LUCA
GeneTreeiENSGT00390000005530
HOGENOMiHOG000006612
HOVERGENiHBG061005
InParanoidiQ05084
KOiK19863
OMAiHESFRGY
OrthoDBiEOG091G0BDC
PhylomeDBiQ05084
TreeFamiTF317186

Family and domain databases

Gene3Di1.20.1270.60, 1 hit
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR010504 AH_dom
IPR030796 ICA1
IPR024114 Islet_autoAg_Ica1/Ica1-like
IPR006723 Islet_autoAg_Ica1_C
PANTHERiPTHR10164 PTHR10164, 1 hit
PTHR10164:SF3 PTHR10164:SF3, 1 hit
PfamiView protein in Pfam
PF06456 Arfaptin, 1 hit
PF04629 ICA69, 2 hits
SMARTiView protein in SMART
SM01015 Arfaptin, 1 hit
SM01237 ICA69, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
PROSITEiView protein in PROSITE
PS50870 AH, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q05084-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGHKCSYPW DLQDRYAQDK SVVNKMQQKY WETKQAFIKA TGKKEDEHVV
60 70 80 90 100
ASDADLDAKL ELFHSIQRTC LDLSKAIVLY QKRICFLSQE ENELGKFLRS
110 120 130 140 150
QGFQDKTRAG KMMQATGKAL CFSSQQRLAL RNPLCRFHQE VETFRHRAIS
160 170 180 190 200
DTWLTVNRME QCRTEYRGAL LWMKDVSQEL DPDLYKQMEK FRKVQTQVRL
210 220 230 240 250
AKKNFDKLKM DVCQKVDLLG ASRCNLLSHM LATYQTTLLH FWEKTSHTMA
260 270 280 290 300
AIHESFKGYQ PYEFTTLKSL QDPMKKLVEK EEKKKINQQE STDAAVQEPS
310 320 330 340 350
QLISLEEENQ RKESSSFKTE DGKSILSALD KGSTHTACSG PIDELLDMKS
360 370 380 390 400
EEGACLGPVA GTPEPEGADK DDLLLLSEIF NASSLEEGEF SKEWAAVFGD
410 420 430 440 450
GQVKEPVPTM ALGEPDPKAQ TGSGFLPSQL LDQNMKDLQA SLQEPAKAAS
460 470 480
DLTAWFSLFA DLDPLSNPDA VGKTDKEHEL LNA
Length:483
Mass (Da):54,645
Last modified:January 23, 2002 - v2
Checksum:i1696F928EE7454C9
GO
Isoform 2 (identifier: Q05084-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     301-301: Q → QYLQNICLEMKANSDIKMLQKGKEGQQIGI

Show »
Length:512
Mass (Da):57,922
Checksum:i478157C323649F88
GO
Isoform 3 (identifier: Q05084-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-7: Missing.

Note: No experimental confirmation available.
Show »
Length:482
Mass (Da):54,558
Checksum:iA4AC17C947586794
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29K → R in AAA02564 (PubMed:8326004).Curated1
Sequence conflicti83R → G in AAA64927 (PubMed:7918678).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0554057Missing in isoform 3. 1 Publication1
Alternative sequenceiVSP_047761301Q → QYLQNICLEMKANSDIKMLQ KGKEGQQIGI in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L01100 mRNA Translation: AAA02564.1
L21181 mRNA Translation: AAA64927.1
U26591 mRNA Translation: AAB19033.1
U37183 mRNA Translation: AAC50935.1
U71264
, U71251, U71252, U71253, U71255, U71256, U71257, U71258, U71259, U71260, U71261, U71262, U71263 Genomic DNA Translation: AAB94738.1
EU416199 mRNA Translation: ACB47390.1
AK292106 mRNA Translation: BAF84795.1
AC006042 Genomic DNA No translation available.
AC007009 Genomic DNA No translation available.
CH471073 Genomic DNA Translation: EAW93610.1
CH471073 Genomic DNA Translation: EAW93617.1
BC008640 mRNA Translation: AAH08640.1
CCDSiCCDS34602.1 [Q05084-1]
CCDS64595.1 [Q05084-3]
PIRiI55598
RefSeqiNP_001129492.1, NM_001136020.2 [Q05084-1]
NP_001263407.1, NM_001276478.1 [Q05084-3]
NP_004959.2, NM_004968.3 [Q05084-1]
NP_071682.1, NM_022307.2 [Q05084-1]
XP_005249792.1, XM_005249735.3
XP_011513647.1, XM_011515345.1
XP_011513648.1, XM_011515346.1
XP_011513649.1, XM_011515347.2 [Q05084-2]
XP_011513650.1, XM_011515348.1 [Q05084-2]
XP_011513651.1, XM_011515349.1 [Q05084-2]
XP_016867606.1, XM_017012117.1
XP_016867607.1, XM_017012118.1
XP_016867608.1, XM_017012119.1
XP_016867609.1, XM_017012120.1
XP_016867610.1, XM_017012121.1
UniGeneiHs.487561

Genome annotation databases

EnsembliENST00000265577; ENSP00000265577; ENSG00000003147 [Q05084-3]
ENST00000396675; ENSP00000379908; ENSG00000003147 [Q05084-1]
ENST00000402384; ENSP00000385570; ENSG00000003147 [Q05084-1]
ENST00000406470; ENSP00000385651; ENSG00000003147 [Q05084-1]
ENST00000422063; ENSP00000403982; ENSG00000003147 [Q05084-2]
GeneIDi3382
KEGGihsa:3382
UCSCiuc003srm.4 human [Q05084-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiICA69_HUMAN
AccessioniPrimary (citable) accession number: Q05084
Secondary accession number(s): A8K7U1
, B3FTQ2, P78506, Q13824, Q96HG3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: January 23, 2002
Last modified: May 23, 2018
This is version 153 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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