SKT_HUMAN
ID SKT_HUMAN Reviewed; 1943 AA.
AC Q5T5P2; A5LHW9; A6NLF3; A6PVQ5; A6PVQ6; A6PVQ7; B9EGK4; Q4KMG4; Q5T5P3;
AC Q5T7H3; Q6MZZ6; Q6ZUI4; Q8WV45; Q9NSR2; Q9ULK3;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Sickle tail protein homolog;
GN Name=KIAA1217; Synonyms=SKT;
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] {ECO:0000305, ECO:0000312|EMBL:BAA86531.2}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9).
RC TISSUE=Brain {ECO:0000312|EMBL:BAA86531.2};
RX PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XV. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:337-345(1999).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 7), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 925-1943 (ISOFORM 2).
RC TISSUE=Amygdala, Carcinoma, Endometrial adenocarcinoma, and
RC Skeletal muscle;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5] {ECO:0000305, ECO:0000312|EMBL:CAB75668.1}
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6] {ECO:0000305, ECO:0000312|EMBL:AAH98577.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4; 6 AND 10), AND VARIANT
RP THR-887.
RC TISSUE=Chondrosarcoma {ECO:0000312|EMBL:AAH98577.1}, Testis, and
RC Uterus {ECO:0000312|EMBL:AAH18764.1};
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 [7] {ECO:0000305, ECO:0000312|EMBL:CAB75668.1}
RP NUCLEOTIDE SEQUENCE [MRNA] OF 25-1943 (ISOFORM 5).
RA Semba K., Araki K., Araki M., Abe K., Yamamura K.;
RT "A human Sickle tail (SKT) expresses especially in notochordal cells.";
RL Submitted (JAN-2007) to the EMBL/GenBank/DDBJ databases.
RN [8] {ECO:0000305, ECO:0000312|EMBL:BAC86241.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1248-1943 (ISOFORM 3).
RC TISSUE=Mammary gland {ECO:0000312|EMBL:BAC86241.1};
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 [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-393, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Mammary epithelium;
RX PubMed=15951569; DOI=10.1074/mcp.m500089-mcp200;
RA Zhang Y., Wolf-Yadlin A., Ross P.L., Pappin D.J., Rush J.,
RA Lauffenburger D.A., White F.M.;
RT "Time-resolved mass spectrometry of tyrosine phosphorylation sites in the
RT epidermal growth factor receptor signaling network reveals dynamic
RT modules.";
RL Mol. Cell. Proteomics 4:1240-1250(2005).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-361, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-470; SER-526; SER-1044 AND
RP SER-1739, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [13]
RP VARIANT 1407-LYS--SER-1943 DEL.
RX PubMed=33276377; DOI=10.1093/hmg/ddaa258;
RA Martin E.M.M.A., Enriquez A., Sparrow D.B., Humphreys D.T.,
RA McInerney-Leo A.M., Leo P.J., Duncan E.L., Iyer K.R., Greasby J.A., Ip E.,
RA Giannoulatou E., Sheng D., Wohler E., Dimartino C., Amiel J., Capri Y.,
RA Lehalle D., Mory A., Wilnai Y., Lebenthal Y., Gharavi A.G., Krzemien G.G.,
RA Miklaszewska M., Steiner R.D., Raggio C., Blank R., Baris Feldman H.,
RA Milo Rasouly H., Sobreira N.L.M., Jobling R., Gordon C.T., Giampietro P.F.,
RA Dunwoodie S.L., Chapman G.;
RT "Heterozygous loss of WBP11 function causes multiple congenital defects in
RT humans and mice.";
RL Hum. Mol. Genet. 29:3662-3678(2020).
CC -!- FUNCTION: Required for normal development of intervertebral disks.
CC {ECO:0000250|UniProtKB:A2AQ25}.
CC -!- SUBUNIT: Interacts with CPNE4 (via VWFA domain).
CC {ECO:0000250|UniProtKB:A2AQ25}.
CC -!- INTERACTION:
CC Q5T5P2-6; Q8IZP0-5: ABI1; NbExp=3; IntAct=EBI-10188326, EBI-11743294;
CC Q5T5P2-6; Q9NYB9: ABI2; NbExp=3; IntAct=EBI-10188326, EBI-743598;
CC Q5T5P2-6; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-10188326, EBI-11096309;
CC Q5T5P2-6; Q9BT30: ALKBH7; NbExp=3; IntAct=EBI-10188326, EBI-2878075;
CC Q5T5P2-6; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-10188326, EBI-742102;
CC Q5T5P2-6; Q14192: FHL2; NbExp=3; IntAct=EBI-10188326, EBI-701903;
CC Q5T5P2-6; P14136: GFAP; NbExp=3; IntAct=EBI-10188326, EBI-744302;
CC Q5T5P2-6; Q08379: GOLGA2; NbExp=6; IntAct=EBI-10188326, EBI-618309;
CC Q5T5P2-6; O75506: HSBP1; NbExp=5; IntAct=EBI-10188326, EBI-748664;
CC Q5T5P2-6; P42858: HTT; NbExp=3; IntAct=EBI-10188326, EBI-466029;
CC Q5T5P2-6; Q0VD86: INCA1; NbExp=3; IntAct=EBI-10188326, EBI-6509505;
CC Q5T5P2-6; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-10188326, EBI-1055254;
CC Q5T5P2-6; P19012: KRT15; NbExp=3; IntAct=EBI-10188326, EBI-739566;
CC Q5T5P2-6; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-10188326, EBI-3044087;
CC Q5T5P2-6; Q15323: KRT31; NbExp=3; IntAct=EBI-10188326, EBI-948001;
CC Q5T5P2-6; P41219: PRPH; NbExp=3; IntAct=EBI-10188326, EBI-752074;
CC Q5T5P2-6; Q13882: PTK6; NbExp=3; IntAct=EBI-10188326, EBI-1383632;
CC Q5T5P2-6; Q6NUQ1: RINT1; NbExp=3; IntAct=EBI-10188326, EBI-726876;
CC Q5T5P2-6; Q8IUQ4: SIAH1; NbExp=3; IntAct=EBI-10188326, EBI-747107;
CC Q5T5P2-6; Q13077: TRAF1; NbExp=3; IntAct=EBI-10188326, EBI-359224;
CC Q5T5P2-6; Q12933: TRAF2; NbExp=3; IntAct=EBI-10188326, EBI-355744;
CC Q5T5P2-6; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-10188326, EBI-2799833;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2AQ25}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=9;
CC Name=1;
CC IsoId=Q5T5P2-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:10574462};
CC IsoId=Q5T5P2-2; Sequence=VSP_052429;
CC Name=3;
CC IsoId=Q5T5P2-3; Sequence=VSP_052427, VSP_052428, VSP_052431,
CC VSP_052432;
CC Name=4 {ECO:0000269|PubMed:15489334};
CC IsoId=Q5T5P2-4; Sequence=VSP_052427, VSP_052428, VSP_052429,
CC VSP_052431, VSP_052432;
CC Name=5;
CC IsoId=Q5T5P2-7; Sequence=VSP_052428, VSP_030353;
CC Name=6 {ECO:0000269|PubMed:15489334};
CC IsoId=Q5T5P2-6; Sequence=VSP_052427, VSP_052428, VSP_052430,
CC VSP_052431, VSP_052432;
CC Name=7;
CC IsoId=Q5T5P2-8; Sequence=VSP_052427, VSP_052428, VSP_030353,
CC VSP_052431, VSP_052432;
CC Name=9;
CC IsoId=Q5T5P2-9; Sequence=VSP_054107, VSP_052429;
CC Name=10;
CC IsoId=Q5T5P2-10; Sequence=VSP_052428, VSP_054874, VSP_052430;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH18764.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AL833280; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC86241.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAF63529.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAE45879.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB033043; BAA86531.2; -; mRNA.
DR EMBL; AL157473; CAB75668.1; -; mRNA.
DR EMBL; AL833280; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BX640796; CAE45879.1; ALT_SEQ; mRNA.
DR EMBL; BX648451; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC063961; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353583; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356113; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL392104; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL157781; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353650; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL355977; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356477; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL391499; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471072; EAW86124.1; -; Genomic_DNA.
DR EMBL; BC018764; AAH18764.1; ALT_INIT; mRNA.
DR EMBL; BC098577; AAH98577.1; -; mRNA.
DR EMBL; BC136521; AAI36522.1; -; mRNA.
DR EMBL; AB291616; BAF63529.1; ALT_INIT; mRNA.
DR EMBL; AK125675; BAC86241.1; ALT_INIT; mRNA.
DR CCDS; CCDS31165.1; -. [Q5T5P2-1]
DR CCDS; CCDS41496.1; -. [Q5T5P2-9]
DR CCDS; CCDS60501.1; -. [Q5T5P2-7]
DR CCDS; CCDS60502.1; -. [Q5T5P2-10]
DR CCDS; CCDS60504.1; -. [Q5T5P2-6]
DR CCDS; CCDS60505.1; -. [Q5T5P2-4]
DR PIR; T46910; T46910.
DR RefSeq; NP_001091970.1; NM_001098500.2. [Q5T5P2-9]
DR RefSeq; NP_001269696.1; NM_001282767.1. [Q5T5P2-10]
DR RefSeq; NP_001269697.1; NM_001282768.1. [Q5T5P2-7]
DR RefSeq; NP_001269698.1; NM_001282769.1. [Q5T5P2-6]
DR RefSeq; NP_001269699.1; NM_001282770.1. [Q5T5P2-4]
DR RefSeq; NP_062536.2; NM_019590.4. [Q5T5P2-1]
DR RefSeq; XP_005252573.1; XM_005252516.3. [Q5T5P2-3]
DR RefSeq; XP_016871918.1; XM_017016429.1. [Q5T5P2-9]
DR AlphaFoldDB; Q5T5P2; -.
DR SMR; Q5T5P2; -.
DR BioGRID; 121111; 81.
DR IntAct; Q5T5P2; 40.
DR MINT; Q5T5P2; -.
DR STRING; 9606.ENSP00000365637; -.
DR GlyGen; Q5T5P2; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q5T5P2; -.
DR PhosphoSitePlus; Q5T5P2; -.
DR BioMuta; KIAA1217; -.
DR DMDM; 147733121; -.
DR EPD; Q5T5P2; -.
DR jPOST; Q5T5P2; -.
DR MassIVE; Q5T5P2; -.
DR MaxQB; Q5T5P2; -.
DR PaxDb; Q5T5P2; -.
DR PeptideAtlas; Q5T5P2; -.
DR PRIDE; Q5T5P2; -.
DR ProteomicsDB; 1472; -.
DR ProteomicsDB; 64537; -. [Q5T5P2-1]
DR ProteomicsDB; 64538; -. [Q5T5P2-2]
DR ProteomicsDB; 64539; -. [Q5T5P2-3]
DR ProteomicsDB; 64540; -. [Q5T5P2-4]
DR ProteomicsDB; 64541; -. [Q5T5P2-6]
DR ProteomicsDB; 64542; -. [Q5T5P2-7]
DR ProteomicsDB; 64543; -. [Q5T5P2-8]
DR Antibodypedia; 1578; 33 antibodies from 15 providers.
DR DNASU; 56243; -.
DR Ensembl; ENST00000307544.10; ENSP00000302343.6; ENSG00000120549.18. [Q5T5P2-6]
DR Ensembl; ENST00000376451.4; ENSP00000365634.2; ENSG00000120549.18. [Q5T5P2-3]
DR Ensembl; ENST00000376452.7; ENSP00000365635.3; ENSG00000120549.18. [Q5T5P2-10]
DR Ensembl; ENST00000376454.8; ENSP00000365637.3; ENSG00000120549.18. [Q5T5P2-1]
DR Ensembl; ENST00000376462.5; ENSP00000365645.1; ENSG00000120549.18. [Q5T5P2-9]
DR Ensembl; ENST00000396445.5; ENSP00000379722.1; ENSG00000120549.18. [Q5T5P2-8]
DR Ensembl; ENST00000396446.5; ENSP00000379723.1; ENSG00000120549.18. [Q5T5P2-4]
DR Ensembl; ENST00000430453.6; ENSP00000389680.3; ENSG00000120549.18. [Q5T5P2-9]
DR Ensembl; ENST00000458595.5; ENSP00000392625.1; ENSG00000120549.18. [Q5T5P2-7]
DR GeneID; 56243; -.
DR KEGG; hsa:56243; -.
DR MANE-Select; ENST00000376454.8; ENSP00000365637.3; NM_019590.5; NP_062536.2.
DR UCSC; uc001irs.5; human. [Q5T5P2-1]
DR CTD; 56243; -.
DR DisGeNET; 56243; -.
DR GeneCards; KIAA1217; -.
DR HGNC; HGNC:25428; KIAA1217.
DR HPA; ENSG00000120549; Tissue enhanced (skeletal).
DR MIM; 617367; gene.
DR neXtProt; NX_Q5T5P2; -.
DR OpenTargets; ENSG00000120549; -.
DR PharmGKB; PA134893343; -.
DR VEuPathDB; HostDB:ENSG00000120549; -.
DR eggNOG; ENOG502QQCT; Eukaryota.
DR GeneTree; ENSGT00940000156098; -.
DR HOGENOM; CLU_002507_2_1_1; -.
DR InParanoid; Q5T5P2; -.
DR OMA; CENGPQM; -.
DR OrthoDB; 65773at2759; -.
DR PhylomeDB; Q5T5P2; -.
DR TreeFam; TF332255; -.
DR PathwayCommons; Q5T5P2; -.
DR SignaLink; Q5T5P2; -.
DR BioGRID-ORCS; 56243; 15 hits in 1071 CRISPR screens.
DR ChiTaRS; KIAA1217; human.
DR GenomeRNAi; 56243; -.
DR Pharos; Q5T5P2; Tbio.
DR PRO; PR:Q5T5P2; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5T5P2; protein.
DR Bgee; ENSG00000120549; Expressed in epithelial cell of pancreas and 186 other tissues.
DR ExpressionAtlas; Q5T5P2; baseline and differential.
DR Genevisible; Q5T5P2; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0048706; P:embryonic skeletal system development; ISS:UniProtKB.
DR InterPro; IPR022782; AIP3-like_C.
DR InterPro; IPR026725; Skt.
DR PANTHER; PTHR22741:SF11; PTHR22741:SF11; 1.
DR Pfam; PF03915; AIP3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Developmental protein;
KW Glycoprotein; Phosphoprotein; Reference proteome.
FT CHAIN 1..1943
FT /note="Sickle tail protein homolog"
FT /id="PRO_0000287897"
FT REGION 1..79
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 112..177
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 290..331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 456..476
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 848..874
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1003..1230
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1305..1329
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1352..1377
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1481..1572
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1606..1660
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1677..1943
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 557..581
FT /evidence="ECO:0000255"
FT COILED 644..685
FT /evidence="ECO:0000255"
FT COILED 957..985
FT /evidence="ECO:0000255"
FT COILED 1464..1490
FT /evidence="ECO:0000255"
FT COILED 1656..1686
FT /evidence="ECO:0000255"
FT COMPBIAS 34..48
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 49..64
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 162..177
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 300..327
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1021..1036
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1042..1056
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1157..1195
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1308..1329
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1362..1377
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1491..1506
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1512..1551
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1552..1572
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1606..1638
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1677..1709
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1728..1751
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1799..1890
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1897..1943
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 169
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 244
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 361
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 365
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 393
FT /note="Phosphotyrosine"
FT /evidence="ECO:0007744|PubMed:15951569"
FT MOD_RES 470
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 474
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 526
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 809
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 1027
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 1030
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 1033
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 1044
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 1461
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 1739
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 1841
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 1896
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 1899
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT MOD_RES 1902
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT CARBOHYD 357
FT /note="O-linked (GlcNAc) serine"
FT /evidence="ECO:0000250|UniProtKB:A2AQ25"
FT VAR_SEQ 1..282
FT /note="Missing (in isoform 3, isoform 4, isoform 6 and
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_052427"
FT VAR_SEQ 1..80
FT /note="Missing (in isoform 9)"
FT /evidence="ECO:0000303|PubMed:10574462"
FT /id="VSP_054107"
FT VAR_SEQ 560..594
FT /note="Missing (in isoform 3, isoform 4, isoform 5, isoform
FT 6, isoform 7 and isoform 10)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005,
FT ECO:0000303|Ref.7"
FT /id="VSP_052428"
FT VAR_SEQ 1028
FT /note="Missing (in isoform 10)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054874"
FT VAR_SEQ 1139..1737
FT /note="Missing (in isoform 2, isoform 4 and isoform 9)"
FT /evidence="ECO:0000303|PubMed:10574462,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_052429"
FT VAR_SEQ 1179..1737
FT /note="Missing (in isoform 5 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:17974005, ECO:0000303|Ref.7"
FT /id="VSP_030353"
FT VAR_SEQ 1205..1737
FT /note="Missing (in isoform 6 and isoform 10)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_052430"
FT VAR_SEQ 1779..1782
FT /note="ANGS -> VVLP (in isoform 3, isoform 4, isoform 6 and
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_052431"
FT VAR_SEQ 1783..1943
FT /note="Missing (in isoform 3, isoform 4, isoform 6 and
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_052432"
FT VARIANT 145
FT /note="A -> G (in dbSNP:rs17506606)"
FT /id="VAR_051358"
FT VARIANT 887
FT /note="A -> T (in dbSNP:rs10828663)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_051359"
FT VARIANT 1362
FT /note="P -> A (in dbSNP:rs16924863)"
FT /id="VAR_051360"
FT VARIANT 1407..1943
FT /note="Missing (found in a patient with Klippel-Feil
FT syndrome; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:33276377"
FT /id="VAR_085329"
FT CONFLICT 498
FT /note="T -> A (in Ref. 3; AL833280)"
FT /evidence="ECO:0000305"
FT CONFLICT 508
FT /note="R -> H (in Ref. 3; BX648451)"
FT /evidence="ECO:0000305"
FT CONFLICT 679
FT /note="K -> R (in Ref. 3; AL833280)"
FT /evidence="ECO:0000305"
FT CONFLICT 795
FT /note="E -> G (in Ref. 3; CAE45879)"
FT /evidence="ECO:0000305"
FT CONFLICT 829
FT /note="T -> M (in Ref. 3; BX648451)"
FT /evidence="ECO:0000305"
FT CONFLICT 914
FT /note="A -> P (in Ref. 3; BX648451)"
FT /evidence="ECO:0000305"
FT CONFLICT 1267
FT /note="S -> N (in Ref. 8; BAC86241)"
FT /evidence="ECO:0000305"
FT CONFLICT 1306
FT /note="T -> A (in Ref. 3; AL833280)"
FT /evidence="ECO:0000305"
FT CONFLICT 1743
FT /note="P -> L (in Ref. 3; AL833280)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1943 AA; 214116 MW; DFE67FADE56E0349 CRC64;
MEENESQKCE PCLPYSADRR QMQEQGKGNL HVTSPEDAEC RRTKERLSNG NSRGSVSKSS
RNIPRRHTLG GPRSSKEILG MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR
SPKLSHSPQP PSLGDPVEHL SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK
ERSLGVLYLQ YGDETKQLRM PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES
RNVYYELNDV RNIQDRSLLK VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP
GSTAHPPHAI PNSPPSTPVP HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI
SPSPSAILER RDVKPDEDMS GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH
IIAYHRTAIR SASAYCNPSM QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD
LRMIDMHAHY NAHGPPHTMQ PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL
MEKQVFAYST ATIPKDRETR ERMQAMEKQI ASLTGLVQSA LFKGPITSYS KDASSEKMMK
TTANRNHTDS AGTPHVSGGK MLSALESTVP PSQPPPVGTS AIHMSLLEMR RSVAELRLQL
QQMRQLQLQN QELLRAMMKK AELEISGKVM ETMKRLEDPV QRQRVLVEQE RQKYLHEEEK
IVKKLCELED FVEDLKKDST AASRLVTLKD VEDGAFLLRQ VGEAVATLKG EFPTLQNKMR
AILRIEVEAV RFLKEEPHKL DSLLKRVRSM TDVLTMLRRH VTDGLLKGTD AAQAAQYMAM
EKATAAEVLK SQEEAAHTSG QPFHSTGAPG DAKSEVVPLS GMMVRHAQSS PVVIQPSQHS
VALLNPAQNL PHVASSPAVP QEATSTLQMS QAPQSPQIPM NGSAMQSLFI EEIHSVSAKN
RAVSIEKAEK KWEEKRQNLD HYNGKEFEKL LEEAQANIMK SIPNLEMPPA TGPLPRGDAP
VDKVELSEDS PNSEQDLEKL GGKSPPPPPP PPRRSYLPGS GLTTTRSGDV VYTGRKENIT
AKASSEDAGP SPQTRATKYP AEEPASAWTP SPPPVTTSSS KDEEEEEEEG DKIMAELQAF
QKCSFMDVNS NSHAEPSRAD SHVKDTRSGA TVPPKEKKNL EFFHEDVRKS DVEYENGPQM
EFQKVTTGAV RPSDPPKWER GMENSISDAS RTSEYKTEII MKENSISNMS LLRDSRNYSQ
ETVPKASFGF SGISPLEDEI NKGSKISGLQ YSIPDTENQT LNYGKTKEME KQNTDKCHVS
SHTRLTESSV HDFKTEDQEV ITTDFGQVVL RPKEARHANV NPNEDGESSS SSPTEENAAT
DNIAFMITET TVQVLSSGEV HDIVSQKGED IQTVNIDARK EMTPRQEGTD NEDPVVCLDK
KPVIIIFDEP MDIRSAYKRL STIFEECDEE LERMMMEEKI EEEEEEENGD SVVQNNNTSQ
MSHKKVAPGN LRTGQQVETK SQPHSLATET RNPGGQEMNR TELNKFSHVD SPNSECKGED
ATDDQFESPK KKFKFKFPKK QLAALTQAIR TGTKTGKKTL QVVVYEEEEE DGTLKQHKEA
KRFEIARSQP EDTPENTVRR QEQPSIESTS PISRTDEIRK NTYRTLDSLE QTIKQLENTI
SEMSPKALVD TSCSSNRDSV ASSSHIAQEA SPRPLLVPDE GPTALEPPTS IPSASRKGSS
GAPQTSRMPV PMSAKNRPGT LDKPGKQSKL QDPRQYRQAN GSAKKSGGDF KPTSPSLPAS
KIPALSPSSG KSSSLPSSSG DSSNLPNPPA TKPSIASNPL SPQTGPPAHS ASLIPSVSNG
SLKFQSLTHT GKGHHLSFSP QSQNGRAPPP LSFSSSPPSP ASSVSLNQGA KGTRTIHTPS
LTSYKAQNGS SSKATPSTAK ETS
