Islet cell autoantigen 1 - Homo sapiens (Human)

Names and origin

Protein names

Recommended name:
    Islet cell autoantigen 1
Alternative name(s):
    69 kDa islet cell autoantigen
    ICA69
    Islet cell autoantigen p69
      Short name=ICAp69
      Short name=p69

Gene names

Name:

ICA1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	483 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	May play a role in neurotransmitter secretion By similarity.
Subcellular location	Cytoplasm › cytosol. Golgi apparatus membrane; Peripheral membrane protein Potential. Cytoplasmic vesicle › secretory vesicle membrane; Peripheral membrane protein Potential. Cytoplasmic vesicle › secretory vesicle › synaptic vesicle membrane; Peripheral membrane protein Potential. Note: Predominantly cytosolic. Also exists as a membrane-bound form which has been found associated with synaptic vesicles and also with the Golgi complex and immature secretory granules.
Tissue specificity	Expressed abundantly in pancreas, heart and brain with low levels of expression in lung, kidney, liver and thyroid.
Involvement in disease	Identified as an autoantigen in insulin-dependent diabetes mellitus.
Sequence similarities	Contains 1 AH domain.

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Ontologies

Keywords
Biological process	Neurotransmitter transport Transport
Cellular component	Cell junction Cytoplasm Cytoplasmic vesicle Golgi apparatus Membrane Synapse
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	neurotransmitter transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	Golgi membrane Ref.6 Inferred from direct assay. Source: UniProtKB cell junction Inferred from electronic annotation. Source: UniProtKB-KW cytosol Inferred from sequence or structural similarity. Source: UniProtKB extrinsic to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell secretory granule membrane Ref.6 Inferred from direct assay. Source: UniProtKB synaptic vesicle membrane Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct
CNTF	P26441	1	EBI-1046751,EBI-1050897
KRT33B	Q14525	1	EBI-1046751,EBI-1049638
MKKS	Q9HB66	1	EBI-1046751,EBI-1054754
STK16	O75716	1	EBI-1046751,EBI-1046308

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 483

483

Islet cell autoantigen 1

PRO_0000084130

Regions

Domain

51 – 254

204

AH

Experimental info

Sequence conflict

29

1

K → R in AAA02564. Ref.1

Sequence conflict

83

1

R → G in AAA64927. Ref.2

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Sequences

Sequence

Length

Mass (Da)

Tools

Q05084-1 [UniParc].

Last modified January 23, 2002. Version 2.
Checksum: 1696F928EE7454C9
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FASTA

483

54,645

        10         20         30         40         50         60 
MSGHKCSYPW DLQDRYAQDK SVVNKMQQKY WETKQAFIKA TGKKEDEHVV ASDADLDAKL 

        70         80         90        100        110        120 
ELFHSIQRTC LDLSKAIVLY QKRICFLSQE ENELGKFLRS QGFQDKTRAG KMMQATGKAL 

       130        140        150        160        170        180 
CFSSQQRLAL RNPLCRFHQE VETFRHRAIS DTWLTVNRME QCRTEYRGAL LWMKDVSQEL 

       190        200        210        220        230        240 
DPDLYKQMEK FRKVQTQVRL AKKNFDKLKM DVCQKVDLLG ASRCNLLSHM LATYQTTLLH 

       250        260        270        280        290        300 
FWEKTSHTMA AIHESFKGYQ PYEFTTLKSL QDPMKKLVEK EEKKKINQQE STDAAVQEPS 

       310        320        330        340        350        360 
QLISLEEENQ RKESSSFKTE DGKSILSALD KGSTHTACSG PIDELLDMKS EEGACLGPVA 

       370        380        390        400        410        420 
GTPEPEGADK DDLLLLSEIF NASSLEEGEF SKEWAAVFGD GQVKEPVPTM ALGEPDPKAQ 

       430        440        450        460        470        480 
TGSGFLPSQL LDQNMKDLQA SLQEPAKAAS DLTAWFSLFA DLDPLSNPDA VGKTDKEHEL 


LNA

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 8326004] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. 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: 7918678] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. 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: 8975715] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"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. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Synovium.
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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: 12682071] [Abstract] Cited for: SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
	L01100 mRNA. Translation: AAA02564.1. L21181 mRNA. Translation: AAA64927.1. U26591 mRNA. Translation: AAB19033.1. U37183 mRNA. Translation: AAC50935.1. U71264 U71263 Genomic DNA. Translation: AAB94738.1. AK292106 mRNA. Translation: BAF84795.1. CH471073 Genomic DNA. Translation: EAW93610.1.
IPI	IPI00011606.
PIR	I55598.
RefSeq	NP_001129492.1. NP_004959.2. NP_071682.1.
UniGene	Hs.487561
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q05084. 4 interactions.
STRING	Q05084.
PTM databases
PhosphoSite	Q05084.
Proteomic databases
PeptideAtlas	Q05084.
PRIDE	Q05084.
Genome annotation databases
Ensembl	ENST00000265577; ENSP00000265577; ENSG00000003147; Homo sapiens. [Genome view] ENST00000317367; ENSP00000316074; ENSG00000003147; Homo sapiens. [Genome view] ENST00000339809; ENSP00000341603; ENSG00000003147; Homo sapiens. [Genome view] ENST00000396675; ENSP00000379908; ENSG00000003147; Homo sapiens. [Genome view] ENST00000401396; ENSP00000385305; ENSG00000003147; Homo sapiens. [Genome view] ENST00000402384; ENSP00000385570; ENSG00000003147; Homo sapiens. [Genome view] ENST00000404556; ENSP00000385125; ENSG00000003147; Homo sapiens. [Genome view] ENST00000406470; ENSP00000385651; ENSG00000003147; Homo sapiens. [Genome view] ENST00000407906; ENSP00000386021; ENSG00000003147; Homo sapiens. [Genome view] ENST00000422063; ENSP00000403982; ENSG00000003147; Homo sapiens. [Genome view] ENST00000430867; ENSP00000397496; ENSG00000003147; Homo sapiens. [Genome view] ENST00000446305; ENSP00000406722; ENSG00000003147; Homo sapiens. [Genome view] ENST00000447326; ENSP00000398435; ENSG00000003147; Homo sapiens. [Genome view] ENST00000452240; ENSP00000416659; ENSG00000003147; Homo sapiens. [Genome view] ENST00000455539; ENSP00000410341; ENSG00000003147; Homo sapiens. [Genome view] ENST00000457755; ENSP00000393314; ENSG00000003147; Homo sapiens. [Genome view]
GeneID	3382.
KEGG	hsa:3382.
UCSC	uc003srm.1. human.
Organism-specific databases
CTD	3382.
GeneCards	GC07M008119.
H-InvDB	HIX0006481.
HGNC	HGNC:5343. ICA1.
HPA	HPA017646.
MIM	147625. gene.
PharmGKB	PA38792.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q05084.
HOVERGEN	Q05084.
OMA	DQNMKDL.
Gene expression databases
ArrayExpress	Q05084.
Bgee	Q05084.
CleanEx	HS_ICA1.
Genevestigator	Q05084.
GermOnline	ENSG00000003147. Homo sapiens.
Family and domain databases
InterPro	IPR010504. Arfaptin. IPR006723. ICA69. [Graphical view]
Gene3D	G3DSA:1.20.1270.60. Arfaptin. 1 hit.
Pfam	PF06456. Arfaptin. 1 hit. PF04629. ICA69. 1 hit. [Graphical view]
PROSITE	PS50870. AH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	13370.
SOURCE	Search...

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Entry information

Entry name

ICA69_HUMAN

Accession

Primary (citable) accession number: Q05084
Secondary accession number(s): A8K7U1, P78506, Q13824

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	January 23, 2002
Last modified:	November 3, 2009
This is version 78 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.

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Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents