Q8NDH6 (ICA1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Islet cell autoantigen 1-like protein

Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 14 protein
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein

Gene names

Name:	ICA1L
Synonyms:	ALS2CR14, ALS2CR15

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	482 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 AH domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NDH6-1)

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.

Isoform 2 (identifier: Q8NDH6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     188-482: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 482	482	Islet cell autoantigen 1-like protein		PRO_0000076175
Regions
	Domain	44 – 247	204	AH
Natural variations
	Alternative sequence	188 – 482	295	Missing in isoform 2.		VSP_017107
Experimental info
	Sequence conflict	242	1	M → V in BAB71062. Ref.1
	Sequence conflict	294	1	D → N in BAB69025. Ref.6
	Sequence conflict	334	1	P → S in BAB69025. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: CB54E9658DA12DCC	FASTA	482	54,407
	10 20 30 40 50 60 MDSFGQPRPE DNQSVVRRMQ KKYWKTKQVF IKATGKKEDE HLVASDAELD AKLEVFHSVQ 70 80 90 100 110 120 ETCTELLKII EKYQLRLNVI SEEENELGLF LKFQAERDAT QAGKMMDATG KALCSSAKQR 130 140 150 160 170 180 LALCTPLSRL KQEVATFSQR AVSDTLMTIN RMEQARTEYR GALLWMKDVS QELDPDTLKQ 190 200 210 220 230 240 MEKFRKVQMQ VRNSKASFDK LKMDVCQKVD LLGASRCNML SHSLTTYQRT LLGFWKKTAR 250 260 270 280 290 300 MMSQIHEACI GFHPYDFVAL KQLQDTPSKI SEDNKDEQIG GFLTEQLNKL VLSDEEASFE 310 320 330 340 350 360 SEQANKDHNE KHSQMREFGA PQFSNSENVA KDLPVDSLEG EDFEKEFSFL NNLLSSGSSS 370 380 390 400 410 420 TSEFTQECQT AFGSPSASLT SQEPSMGSEP LAHSSRFLPS QLFDLGFHVA GAFNNWVSQE 430 440 450 460 470 480 ESELCLSHTD NQPVPSQSPK KLTRSPNNGN QDMSAWFNLF ADLDPLSNPD AIGHSDDELL NA
	Isoform 2 [UniParc]. Checksum: 26EE3DD4A502225E	FASTA	187	21,581
	10 20 30 40 50 60 MDSFGQPRPE DNQSVVRRMQ KKYWKTKQVF IKATGKKEDE HLVASDAELD AKLEVFHSVQ 70 80 90 100 110 120 ETCTELLKII EKYQLRLNVI SEEENELGLF LKFQAERDAT QAGKMMDATG KALCSSAKQR 130 140 150 160 170 180 LALCTPLSRL KQEVATFSQR AVSDTLMTIN RMEQARTEYR GALLWMKDVS QELDPDTLKQ MEKFRKV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis.
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Placenta and Testis.
[6]	"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2." Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. , Rouleau G.A., Hayden M.R., Ikeda J.-E. Nat. Genet. 29:166-173(2001) [PubMed: 11586298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 107-482 (ISOFORM 1).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK055978 mRNA. Translation: BAB71062.1. AK092310 mRNA. Translation: BAG52528.1. AL833904 mRNA. Translation: CAD38760.1. AC010900 Genomic DNA. Translation: AAY24286.1. AC098831 Genomic DNA. Translation: AAY24091.1. AC131950 Genomic DNA. Translation: AAY15007.1. CH471063 Genomic DNA. Translation: EAW70313.1. BC000993 mRNA. Translation: AAH00993.2. BC063876 mRNA. Translation: AAH63876.1. AB053317 mRNA. Translation: BAB69025.1.
IPI	IPI00179047. IPI00719241.
RefSeq	NP_612477.3. NM_138468.4.
UniGene	Hs.516629.
3D structure databases
ProteinModelPortal	Q8NDH6.
ModBase	Search...
PTM databases
PhosphoSite	Q8NDH6.
Polymorphism databases
DMDM	74751222.
Proteomic databases
PRIDE	Q8NDH6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000358299; ENSP00000351047; ENSG00000163596. ENST00000392237; ENSP00000376070; ENSG00000163596.
GeneID	130026.
KEGG	hsa:130026.
UCSC	uc002uzh.1. human. uc002uzj.2. human.
Organism-specific databases
CTD	130026.
GeneCards	GC02M203639.
H-InvDB	HIX0002753.
HGNC	HGNC:14442. ICA1L.
HPA	HPA042507.
neXtProt	NX_Q8NDH6.
PharmGKB	PA24738.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05690.
GeneTree	ENSGT00390000005530.
HOVERGEN	HBG061005.
InParanoid	Q8NDH6.
OMA	EFTQECQ.
OrthoDB	EOG476K09.
PhylomeDB	Q8NDH6.
Gene expression databases
ArrayExpress	Q8NDH6.
Bgee	Q8NDH6.
CleanEx	HS_ICA1L.
Genevestigator	Q8NDH6.
GermOnline	ENSG00000163596. Homo sapiens.
Family and domain databases
InterPro	IPR010504. Arfaptin_homology_dom. IPR024114. Islet_autoAg_Ica1/Ica1-like. IPR006723. Islet_autoAg_Ica1_C. [Graphical view]
Gene3D	G3DSA:1.20.1270.60. Arfaptin. 1 hit.
PANTHER	PTHR10164. PTHR10164. 1 hit.
Pfam	PF06456. Arfaptin. 1 hit. PF04629. ICA69. 1 hit. [Graphical view]
SMART	SM01015. Arfaptin. 1 hit. [Graphical view]
PROSITE	PS50870. AH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	82684.

Entry information

Entry name

ICA1L_HUMAN

Accession

Primary (citable) accession number: Q8NDH6
Secondary accession number(s): B3KRW6 , Q53P45, Q53QZ4, Q53T97, Q96N47, Q96Q32, Q9BVQ2

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2006
Last sequence update:	October 1, 2002
Last modified:	January 25, 2012
This is version 64 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.