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Protein

Islet cell autoantigen 1

Gene

ICA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in neurotransmitter secretion.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Neurotransmitter 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

HGNCiHGNC:5343. ICA1.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • cytoplasm Source: HPA
  • cytosol Source: UniProtKB
  • dendrite Source: Ensembl
  • Golgi apparatus Source: HPA
  • Golgi membrane Source: UniProtKB
  • Golgi stack Source: Ensembl
  • perinuclear region of cytoplasm Source: Ensembl
  • secretory granule membrane Source: UniProtKB
  • synaptic vesicle membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29591.

Polymorphism and mutation databases

BioMutaiICA1.
DMDMi20141584.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 483483Islet cell autoantigen 1PRO_0000084130Add
BLAST

Proteomic databases

EPDiQ05084.
MaxQBiQ05084.
PaxDbiQ05084.
PeptideAtlasiQ05084.
PRIDEiQ05084.

PTM databases

iPTMnetiQ05084.
PhosphoSiteiQ05084.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ05084.
CleanExiHS_ICA1.
ExpressionAtlasiQ05084. baseline and differential.
GenevisibleiQ05084. HS.

Organism-specific databases

HPAiHPA017646.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC28AQ7Z6N93EBI-1046751,EBI-10258115
CCDC28AQ8IWP93EBI-1046751,EBI-355471
ING5Q8WYH83EBI-1046751,EBI-488533
MBD3O959833EBI-1046751,EBI-1783068
RAB2AP610193EBI-1046751,EBI-752037
RAB2BQ8WUD13EBI-1046751,EBI-5542466

Protein-protein interaction databases

BioGridi109609. 13 interactions.
IntActiQ05084. 9 interactions.
STRINGi9606.ENSP00000379908.

Structurei

3D structure databases

ProteinModelPortaliQ05084.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini51 – 254204AHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 AH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3891. Eukaryota.
ENOG410YJKW. LUCA.
GeneTreeiENSGT00390000005530.
HOGENOMiHOG000006612.
HOVERGENiHBG061005.
InParanoidiQ05084.
KOiK19863.
OMAiFGDGQVK.
OrthoDBiEOG7QRQVD.
PhylomeDBiQ05084.
TreeFamiTF317186.

Family and domain databases

Gene3Di1.20.1270.60. 1 hit.
InterProiIPR027267. AH/BAR-dom.
IPR010504. AH_dom.
IPR030796. ICA1.
IPR024114. Islet_autoAg_Ica1/Ica1-like.
IPR006723. Islet_autoAg_Ica1_C.
[Graphical view]
PANTHERiPTHR10164. PTHR10164. 1 hit.
PTHR10164:SF3. PTHR10164:SF3. 1 hit.
PfamiPF06456. Arfaptin. 1 hit.
PF04629. ICA69. 2 hits.
[Graphical view]
SMARTiSM01015. Arfaptin. 1 hit.
SM01237. ICA69. 1 hit.
[Graphical view]
PROSITEiPS50870. AH. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti29 – 291K → R in AAA02564 (PubMed:8326004).Curated
Sequence conflicti83 – 831R → G in AAA64927 (PubMed:7918678).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei7 – 71Missing in isoform 3. 1 PublicationVSP_055405
Alternative sequencei301 – 3011Q → QYLQNICLEMKANSDIKMLQ KGKEGQQIGI in isoform 2. 1 PublicationVSP_047761

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. [Q05084-3]
XP_011513647.1. XM_011515345.1. [Q05084-2]
XP_011513648.1. XM_011515346.1. [Q05084-2]
XP_011513649.1. XM_011515347.1. [Q05084-2]
XP_011513650.1. XM_011515348.1. [Q05084-2]
XP_011513651.1. XM_011515349.1. [Q05084-2]
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

Cross-referencesi

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. [Q05084-3]
XP_011513647.1. XM_011515345.1. [Q05084-2]
XP_011513648.1. XM_011515346.1. [Q05084-2]
XP_011513649.1. XM_011515347.1. [Q05084-2]
XP_011513650.1. XM_011515348.1. [Q05084-2]
XP_011513651.1. XM_011515349.1. [Q05084-2]
UniGeneiHs.487561.

3D structure databases

ProteinModelPortaliQ05084.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109609. 13 interactions.
IntActiQ05084. 9 interactions.
STRINGi9606.ENSP00000379908.

PTM databases

iPTMnetiQ05084.
PhosphoSiteiQ05084.

Polymorphism and mutation databases

BioMutaiICA1.
DMDMi20141584.

Proteomic databases

EPDiQ05084.
MaxQBiQ05084.
PaxDbiQ05084.
PeptideAtlasiQ05084.
PRIDEiQ05084.

Protocols and materials databases

DNASUi3382.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi3382.
GeneCardsiICA1.
HGNCiHGNC:5343. ICA1.
HPAiHPA017646.
MIMi147625. gene.
neXtProtiNX_Q05084.
PharmGKBiPA29591.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3891. Eukaryota.
ENOG410YJKW. LUCA.
GeneTreeiENSGT00390000005530.
HOGENOMiHOG000006612.
HOVERGENiHBG061005.
InParanoidiQ05084.
KOiK19863.
OMAiFGDGQVK.
OrthoDBiEOG7QRQVD.
PhylomeDBiQ05084.
TreeFamiTF317186.

Miscellaneous databases

ChiTaRSiICA1. human.
GeneWikiiICA1.
GenomeRNAii3382.
PROiQ05084.
SOURCEiSearch...

Gene expression databases

BgeeiQ05084.
CleanExiHS_ICA1.
ExpressionAtlasiQ05084. baseline and differential.
GenevisibleiQ05084. HS.

Family and domain databases

Gene3Di1.20.1270.60. 1 hit.
InterProiIPR027267. AH/BAR-dom.
IPR010504. AH_dom.
IPR030796. ICA1.
IPR024114. Islet_autoAg_Ica1/Ica1-like.
IPR006723. Islet_autoAg_Ica1_C.
[Graphical view]
PANTHERiPTHR10164. PTHR10164. 1 hit.
PTHR10164:SF3. PTHR10164:SF3. 1 hit.
PfamiPF06456. Arfaptin. 1 hit.
PF04629. ICA69. 2 hits.
[Graphical view]
SMARTiSM01015. Arfaptin. 1 hit.
SM01237. ICA69. 1 hit.
[Graphical view]
PROSITEiPS50870. AH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Islet cell autoantigen 69 kD (ICA69). Molecular cloning and characterization of a novel diabetes-associated autoantigen."
    Pietropaolo M., Castano L., Babu S., Buelow R., Kuo Y.-L.S., Martin S., Martin A., Powers A.C., Prochazka M., Naggert J., Leiter E.H., Eisenbarth G.S.
    J. Clin. Invest. 92:359-371(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Pancreas.
  2. "Cloning of human and rat p69 cDNA, a candidate autoimmune target in type 1 diabetes."
    Miyazaki I., Gaedigk R., Hui M.F., Cheung R.K., Morkowski J., Rajotte R.V., Dosch H.-M.
    Biochim. Biophys. Acta 1227:101-104(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Pancreatic islet.
  3. "Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity."
    Gaedigk R., Karges W., Hui M.F., Scherer S.W., Dosch H.-M.
    Genomics 38:382-391(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  4. "A new transcript variant of human ICA69."
    Hoehne M., Lorscheider J., Schermer B., Benzing T.
    Submitted (JAN-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Brain.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Synovium.
  6. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Colon.
  9. "Islet cell autoantigen of 69 kDa is an arfaptin-related protein associated with the Golgi complex of insulinoma INS-1 cells."
    Spitzenberger F., Pietropaolo S., Verkade P., Habermann B., Lacas-Gervais S., Mziaut H., Pietropaolo M., Solimena M.
    J. Biol. Chem. 278:26166-26173(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.

Entry informationi

Entry nameiICA69_HUMAN
AccessioniPrimary (citable) accession number: Q05084
Secondary accession number(s): A8K7U1
, B3FTQ2, P78506, Q13824, Q96HG3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: January 23, 2002
Last modified: June 8, 2016
This is version 139 of the entry and version 2 of the sequence. [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
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.