Reviewed, UniProtKB/Swiss-Prot Q05084 (ICA69_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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

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

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.

Ontologies

Keywords
Biological process	Neurotransmitter transport Transport
Cellular component	Cell junction Cytoplasm Cytoplasmic vesicle Golgi apparatus Membrane Synapse
Gene Ontology (GO)
Biological process	neurotransmitter transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	Golgi membrane Ref.4 Inferred from direct assay. Source: UniProtKB cell junction Inferred from electronic annotation. Source: UniProtKB-KW cytosol Inferred from sequence or structural similarity. Source: UniProtKB secretory granule membrane Ref.4 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...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
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

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

Sequences

	Sequence		Length	Mass (Da)
	Q05084-1 [UniParc]. Last modified January 23, 2002. Version 2. Checksum: 1696F928EE7454C9	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

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]	"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.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
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.
PTM databases
PhosphoSite	Q05084.
Proteomic databases
PeptideAtlas	Q05084.
PRIDE	Q05084.
Genome annotation databases
Ensembl	ENSG00000003147. Homo sapiens. [Contig view]
GeneID	3382.
KEGG	hsa:3382.
Organism-specific databases
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	Q05084. DQNMKDL.
Gene expression databases
ArrayExpress	Q05084.
Bgee	Q05084.
CleanEx	HS_ICA1.
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...

Entry information

Entry name

ICA69_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	January 23, 2002
Last modified:	June 16, 2009
This is version 73 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)