CATIP_HUMAN
ID CATIP_HUMAN Reviewed; 387 AA.
AC Q7Z7H3;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Ciliogenesis-associated TTC17-interacting protein;
GN Name=CATIP; Synonyms=C2orf62;
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 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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [4]
RP FUNCTION, INTERACTION WITH TTC17, SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=24475127; DOI=10.1371/journal.pone.0086476;
RA Bontems F., Fish R.J., Borlat I., Lembo F., Chocu S., Chalmel F.,
RA Borg J.P., Pineau C., Neerman-Arbez M., Bairoch A., Lane L.;
RT "C2orf62 and TTC17 Are Involved in Actin Organization and Ciliogenesis in
RT Zebrafish and Human.";
RL PLoS ONE 9:E86476-E86476(2014).
RN [5]
RP INVOLVEMENT IN SPGF54, VARIANT SPGF54 ILE-35, CHARACTERIZATION OF VARIANT
RP SPGF54 ILE-35, SUBCELLULAR LOCATION, AND FUNCTION.
RX PubMed=32503832; DOI=10.1136/jmedgenet-2019-106825;
RA Arafat M., Harlev A., Har-Vardi I., Levitas E., Priel T., Gershoni M.,
RA Searby C., Sheffield V.C., Lunenfeld E., Parvari R.;
RT "Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by
RT affecting actin dynamics.";
RL J. Med. Genet. 0:0-0(2020).
CC -!- FUNCTION: Plays a role in primary ciliogenesis by modulating actin
CC polymerization. {ECO:0000269|PubMed:24475127,
CC ECO:0000269|PubMed:32503832}.
CC -!- SUBUNIT: Interacts with TTC17. {ECO:0000269|PubMed:24475127}.
CC -!- INTERACTION:
CC Q7Z7H3; Q9H8M2: BRD9; NbExp=3; IntAct=EBI-10258233, EBI-10258305;
CC Q7Z7H3; Q9H8M2-3: BRD9; NbExp=3; IntAct=EBI-10258233, EBI-12834120;
CC Q7Z7H3; Q9P209: CEP72; NbExp=5; IntAct=EBI-10258233, EBI-739498;
CC Q7Z7H3; Q8WYA6: CTNNBL1; NbExp=3; IntAct=EBI-10258233, EBI-748128;
CC Q7Z7H3; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10258233, EBI-3867333;
CC Q7Z7H3; Q96D03: DDIT4L; NbExp=3; IntAct=EBI-10258233, EBI-742054;
CC Q7Z7H3; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-10258233, EBI-5916454;
CC Q7Z7H3; Q9UBX0: HESX1; NbExp=3; IntAct=EBI-10258233, EBI-8470369;
CC Q7Z7H3; Q15323: KRT31; NbExp=6; IntAct=EBI-10258233, EBI-948001;
CC Q7Z7H3; Q6A162: KRT40; NbExp=3; IntAct=EBI-10258233, EBI-10171697;
CC Q7Z7H3; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-10258233, EBI-11959885;
CC Q7Z7H3; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-10258233, EBI-10172290;
CC Q7Z7H3; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-10258233, EBI-10172052;
CC Q7Z7H3; Q5VYS4: MEDAG; NbExp=3; IntAct=EBI-10258233, EBI-1050881;
CC Q7Z7H3; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-10258233, EBI-742948;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24475127,
CC ECO:0000269|PubMed:32503832}. Cytoplasm {ECO:0000269|PubMed:24475127,
CC ECO:0000269|PubMed:32503832}. Cell membrane
CC {ECO:0000269|PubMed:24475127}. Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:24475127}. Note=Colocalized with TTC17 at F-actin
CC rich zones and at dynamic plasma membrane protrusions.
CC -!- TISSUE SPECIFICITY: Strongly expressed in round and elongating
CC spermatids, weakly in pachytene spermatocytes. Expressed in Leydig
CC cells (at protein level). Expressed in testis, placenta, prostate and
CC lung, and moderately in ovary and brain. {ECO:0000269|PubMed:24475127}.
CC -!- DISEASE: Spermatogenic failure 54 (SPGF54) [MIM:619379]: An autosomal
CC recessive male infertility disorder characterized by
CC oligoteratoasthenozoospermia.Semen analysis shows markedly reduced
CC sperm counts and severely reduced or absent sperm motility.
CC {ECO:0000269|PubMed:32503832}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the CATIP family. {ECO:0000305}.
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DR EMBL; AC021016; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471063; EAW70610.1; -; Genomic_DNA.
DR EMBL; BC052750; AAH52750.1; -; mRNA.
DR CCDS; CCDS2414.1; -.
DR RefSeq; NP_001307794.1; NM_001320865.1.
DR RefSeq; NP_940961.1; NM_198559.1.
DR AlphaFoldDB; Q7Z7H3; -.
DR BioGRID; 131969; 17.
DR IntAct; Q7Z7H3; 14.
DR STRING; 9606.ENSP00000289388; -.
DR iPTMnet; Q7Z7H3; -.
DR PhosphoSitePlus; Q7Z7H3; -.
DR BioMuta; CATIP; -.
DR DMDM; 74738883; -.
DR MassIVE; Q7Z7H3; -.
DR PaxDb; Q7Z7H3; -.
DR PeptideAtlas; Q7Z7H3; -.
DR PRIDE; Q7Z7H3; -.
DR ProteomicsDB; 69547; -.
DR Antibodypedia; 34269; 295 antibodies from 13 providers.
DR DNASU; 375307; -.
DR Ensembl; ENST00000289388.4; ENSP00000289388.3; ENSG00000158428.4.
DR GeneID; 375307; -.
DR KEGG; hsa:375307; -.
DR MANE-Select; ENST00000289388.4; ENSP00000289388.3; NM_198559.2; NP_940961.1.
DR UCSC; uc002vhr.3; human.
DR CTD; 375307; -.
DR GeneCards; CATIP; -.
DR HGNC; HGNC:25062; CATIP.
DR HPA; ENSG00000158428; Tissue enhanced (fallopian tube, testis).
DR MIM; 619379; phenotype.
DR MIM; 619387; gene.
DR neXtProt; NX_Q7Z7H3; -.
DR OpenTargets; ENSG00000158428; -.
DR PharmGKB; PA162379334; -.
DR VEuPathDB; HostDB:ENSG00000158428; -.
DR eggNOG; ENOG502QPJE; Eukaryota.
DR GeneTree; ENSGT00940000154101; -.
DR HOGENOM; CLU_041155_0_0_1; -.
DR InParanoid; Q7Z7H3; -.
DR OMA; SPGCCMI; -.
DR OrthoDB; 998907at2759; -.
DR PhylomeDB; Q7Z7H3; -.
DR TreeFam; TF328954; -.
DR PathwayCommons; Q7Z7H3; -.
DR SignaLink; Q7Z7H3; -.
DR BioGRID-ORCS; 375307; 8 hits in 1067 CRISPR screens.
DR GenomeRNAi; 375307; -.
DR Pharos; Q7Z7H3; Tdark.
DR PRO; PR:Q7Z7H3; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q7Z7H3; protein.
DR Bgee; ENSG00000158428; Expressed in right uterine tube and 91 other tissues.
DR GO; GO:0015629; C:actin cytoskeleton; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0030041; P:actin filament polymerization; IDA:UniProtKB.
DR GO; GO:0044782; P:cilium organization; IMP:UniProtKB.
PE 1: Evidence at protein level;
KW Cell membrane; Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton;
KW Disease variant; Membrane; Nucleus; Reference proteome.
FT CHAIN 1..387
FT /note="Ciliogenesis-associated TTC17-interacting protein"
FT /id="PRO_0000309187"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 361..387
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 35
FT /note="F -> I (in SPGF54; reduces the protein stability.
FT Increases the kinetics of actin polymerisation;
FT dbSNP:rs141560868)"
FT /evidence="ECO:0000269|PubMed:32503832"
FT /id="VAR_085385"
SQ SEQUENCE 387 AA; 43900 MW; 882052D9411DA7B1 CRC64;
MSSKVYSTGS RAKDHQPSGP ECLPLPEANA EAIDFLSSLH KEELQMLFFS ETLAMVSDTG
EPQGELTIEV QRGKYQEKLG MLTYCLFVHA SSRGFLDKML CGNSLLGYLS EKLELMEQHS
QDFIKFLILP MERKMSLLKQ DDQLAVTRSI KEGEEVKTGV TSFPWSSIKG FISEAANLVL
LRVMAWRRMV PSNARFLTLD TEGKLCYLTY QNLGFQTIQV DHQQAEVFIV EQTVHAEEGI
PMSCQYYLLS DGHLAKRIQV GSPGCCIITK MPILREEDEI EPRPVFEKKP LVWEEDMELY
SKFLDRKEEL RLGHASYLRQ HPEAHALISD FLLFLLLRQP EDVVTFAAEF FGPFDPWRPS
SPALGSSHRP NPFRSLEPEG DARSGAA
