ICA1L_HUMAN
ID ICA1L_HUMAN Reviewed; 482 AA.
AC Q8NDH6; B3KRW6; Q53P45; Q53QZ4; Q53T97; Q96N47; Q96Q32; Q9BVQ2;
DT 24-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Islet cell autoantigen 1-like protein;
DE AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 14 protein;
DE AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein;
GN Name=ICA1L; Synonyms=ALS2CR14, ALS2CR15;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 107-482 (ISOFORM 1).
RX PubMed=11586298; DOI=10.1038/ng1001-166;
RA Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S.,
RA Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A.,
RA Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr.,
RA Scherer S.W., Rouleau G.A., Hayden M.R., Ikeda J.-E.;
RT "A gene encoding a putative GTPase regulator is mutated in familial
RT amyotrophic lateral sclerosis 2.";
RL Nat. Genet. 29:166-173(2001).
CC -!- INTERACTION:
CC Q8NDH6; Q9BVG8: KIFC3; NbExp=3; IntAct=EBI-10269733, EBI-2125614;
CC Q8NDH6-2; Q9C005: DPY30; NbExp=3; IntAct=EBI-12141931, EBI-744973;
CC Q8NDH6-2; P22607: FGFR3; NbExp=3; IntAct=EBI-12141931, EBI-348399;
CC Q8NDH6-2; Q96CN9: GCC1; NbExp=3; IntAct=EBI-12141931, EBI-746252;
CC Q8NDH6-2; P14136: GFAP; NbExp=3; IntAct=EBI-12141931, EBI-744302;
CC Q8NDH6-2; Q14957: GRIN2C; NbExp=3; IntAct=EBI-12141931, EBI-8285963;
CC Q8NDH6-2; O14964: HGS; NbExp=3; IntAct=EBI-12141931, EBI-740220;
CC Q8NDH6-2; P01112: HRAS; NbExp=3; IntAct=EBI-12141931, EBI-350145;
CC Q8NDH6-2; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-12141931, EBI-1055254;
CC Q8NDH6-2; O14901: KLF11; NbExp=3; IntAct=EBI-12141931, EBI-948266;
CC Q8NDH6-2; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-12141931, EBI-3044087;
CC Q8NDH6-2; P25791-3: LMO2; NbExp=3; IntAct=EBI-12141931, EBI-11959475;
CC Q8NDH6-2; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-12141931, EBI-2811583;
CC Q8NDH6-2; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-12141931, EBI-1504830;
CC Q8NDH6-2; Q9Y5L0: TNPO3; NbExp=3; IntAct=EBI-12141931, EBI-1042571;
CC Q8NDH6-2; Q9Y649; NbExp=3; IntAct=EBI-12141931, EBI-25900580;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NDH6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NDH6-2; Sequence=VSP_017107;
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DR EMBL; AK055978; BAB71062.1; -; mRNA.
DR EMBL; AK092310; BAG52528.1; -; mRNA.
DR EMBL; AL833904; CAD38760.1; -; mRNA.
DR EMBL; AC010900; AAY24286.1; -; Genomic_DNA.
DR EMBL; AC098831; AAY24091.1; -; Genomic_DNA.
DR EMBL; AC131950; AAY15007.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70313.1; -; Genomic_DNA.
DR EMBL; BC000993; AAH00993.2; -; mRNA.
DR EMBL; BC063876; AAH63876.1; -; mRNA.
DR EMBL; AB053317; BAB69025.1; -; mRNA.
DR CCDS; CCDS2354.1; -. [Q8NDH6-1]
DR CCDS; CCDS74632.1; -. [Q8NDH6-2]
DR RefSeq; NP_001275551.1; NM_001288622.1. [Q8NDH6-1]
DR RefSeq; NP_001275552.1; NM_001288623.1. [Q8NDH6-1]
DR RefSeq; NP_001275553.1; NM_001288624.1. [Q8NDH6-2]
DR RefSeq; NP_612477.3; NM_138468.5. [Q8NDH6-1]
DR AlphaFoldDB; Q8NDH6; -.
DR BioGRID; 126218; 12.
DR IntAct; Q8NDH6; 17.
DR STRING; 9606.ENSP00000478645; -.
DR iPTMnet; Q8NDH6; -.
DR PhosphoSitePlus; Q8NDH6; -.
DR BioMuta; ICA1L; -.
DR DMDM; 74751222; -.
DR EPD; Q8NDH6; -.
DR jPOST; Q8NDH6; -.
DR MassIVE; Q8NDH6; -.
DR PaxDb; Q8NDH6; -.
DR PeptideAtlas; Q8NDH6; -.
DR PRIDE; Q8NDH6; -.
DR ProteomicsDB; 73030; -. [Q8NDH6-1]
DR ProteomicsDB; 73031; -. [Q8NDH6-2]
DR Antibodypedia; 34156; 102 antibodies from 20 providers.
DR DNASU; 130026; -.
DR Ensembl; ENST00000358299.7; ENSP00000351047.2; ENSG00000163596.17. [Q8NDH6-1]
DR Ensembl; ENST00000392237.6; ENSP00000376070.2; ENSG00000163596.17. [Q8NDH6-1]
DR Ensembl; ENST00000425178.5; ENSP00000404189.1; ENSG00000163596.17. [Q8NDH6-2]
DR Ensembl; ENST00000617388.4; ENSP00000478645.1; ENSG00000163596.17. [Q8NDH6-1]
DR GeneID; 130026; -.
DR KEGG; hsa:130026; -.
DR MANE-Select; ENST00000358299.7; ENSP00000351047.2; NM_001288622.3; NP_001275551.1.
DR UCSC; uc002uzh.3; human. [Q8NDH6-1]
DR CTD; 130026; -.
DR DisGeNET; 130026; -.
DR GeneCards; ICA1L; -.
DR HGNC; HGNC:14442; ICA1L.
DR HPA; ENSG00000163596; Low tissue specificity.
DR neXtProt; NX_Q8NDH6; -.
DR OpenTargets; ENSG00000163596; -.
DR PharmGKB; PA24738; -.
DR VEuPathDB; HostDB:ENSG00000163596; -.
DR eggNOG; KOG3891; Eukaryota.
DR GeneTree; ENSGT00390000005530; -.
DR HOGENOM; CLU_037158_1_0_1; -.
DR InParanoid; Q8NDH6; -.
DR OMA; RIHEEFT; -.
DR PhylomeDB; Q8NDH6; -.
DR TreeFam; TF317186; -.
DR PathwayCommons; Q8NDH6; -.
DR SignaLink; Q8NDH6; -.
DR BioGRID-ORCS; 130026; 11 hits in 1072 CRISPR screens.
DR ChiTaRS; ICA1L; human.
DR GenomeRNAi; 130026; -.
DR Pharos; Q8NDH6; Tdark.
DR PRO; PR:Q8NDH6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8NDH6; protein.
DR Bgee; ENSG00000163596; Expressed in bronchial epithelial cell and 181 other tissues.
DR ExpressionAtlas; Q8NDH6; baseline and differential.
DR Genevisible; Q8NDH6; HS.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0019904; F:protein domain specific binding; IEA:InterPro.
DR GO; GO:0051049; P:regulation of transport; IBA:GO_Central.
DR Gene3D; 1.20.1270.60; -; 1.
DR InterPro; IPR027267; AH/BAR_dom_sf.
DR InterPro; IPR010504; AH_dom.
DR InterPro; IPR024114; Islet_autoAg_Ica1/Ica1-like.
DR InterPro; IPR006723; Islet_autoAg_Ica1_C.
DR PANTHER; PTHR10164; PTHR10164; 1.
DR Pfam; PF06456; Arfaptin; 1.
DR Pfam; PF04629; ICA69; 1.
DR SMART; SM01015; Arfaptin; 1.
DR SMART; SM01237; ICA69; 1.
DR SUPFAM; SSF103657; SSF103657; 1.
DR PROSITE; PS50870; AH; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..482
FT /note="Islet cell autoantigen 1-like protein"
FT /id="PRO_0000076175"
FT DOMAIN 44..247
FT /note="AH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00294"
FT REGION 365..393
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 427..449
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 365..389
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 188..482
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017107"
FT CONFLICT 242
FT /note="M -> V (in Ref. 1; BAB71062)"
FT /evidence="ECO:0000305"
FT CONFLICT 294
FT /note="D -> N (in Ref. 6; BAB69025)"
FT /evidence="ECO:0000305"
FT CONFLICT 334
FT /note="P -> S (in Ref. 6; BAB69025)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 482 AA; 54407 MW; CB54E9658DA12DCC CRC64;
MDSFGQPRPE DNQSVVRRMQ KKYWKTKQVF IKATGKKEDE HLVASDAELD AKLEVFHSVQ
ETCTELLKII EKYQLRLNVI SEEENELGLF LKFQAERDAT QAGKMMDATG KALCSSAKQR
LALCTPLSRL KQEVATFSQR AVSDTLMTIN RMEQARTEYR GALLWMKDVS QELDPDTLKQ
MEKFRKVQMQ VRNSKASFDK LKMDVCQKVD LLGASRCNML SHSLTTYQRT LLGFWKKTAR
MMSQIHEACI GFHPYDFVAL KQLQDTPSKI SEDNKDEQIG GFLTEQLNKL VLSDEEASFE
SEQANKDHNE KHSQMREFGA PQFSNSENVA KDLPVDSLEG EDFEKEFSFL NNLLSSGSSS
TSEFTQECQT AFGSPSASLT SQEPSMGSEP LAHSSRFLPS QLFDLGFHVA GAFNNWVSQE
ESELCLSHTD NQPVPSQSPK KLTRSPNNGN QDMSAWFNLF ADLDPLSNPD AIGHSDDELL
NA
