TTC9A_HUMAN
ID TTC9A_HUMAN Reviewed; 222 AA.
AC Q92623; Q86WT2;
DT 28-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Tetratricopeptide repeat protein 9A;
DE Short=TPR repeat protein 9A;
GN Name=TTC9; Synonyms=KIAA0227, TTC9A;
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], AND VARIANT ALA-103.
RC TISSUE=Bone marrow;
RX PubMed=9039502; DOI=10.1093/dnares/3.5.321;
RA Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O.,
RA Tanaka A., Kotani H., Miyajima N., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. VI. The
RT coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of
RT cDNA clones from cell line KG-1 and brain.";
RL DNA Res. 3:321-329(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-103.
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-105, VARIANT [LARGE SCALE
RP ANALYSIS] ALA-103, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP 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).
CC -!- SIMILARITY: Belongs to the TTC9 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH47950.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA13216.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; D86980; BAA13216.1; ALT_INIT; mRNA.
DR EMBL; AC004816; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL357153; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC047950; AAH47950.1; ALT_INIT; mRNA.
DR CCDS; CCDS45132.1; -.
DR RefSeq; NP_056166.1; NM_015351.1.
DR AlphaFoldDB; Q92623; -.
DR SMR; Q92623; -.
DR BioGRID; 117055; 13.
DR IntAct; Q92623; 1.
DR STRING; 9606.ENSP00000256367; -.
DR iPTMnet; Q92623; -.
DR PhosphoSitePlus; Q92623; -.
DR BioMuta; TTC9; -.
DR DMDM; 296453008; -.
DR EPD; Q92623; -.
DR jPOST; Q92623; -.
DR MassIVE; Q92623; -.
DR MaxQB; Q92623; -.
DR PaxDb; Q92623; -.
DR PeptideAtlas; Q92623; -.
DR PRIDE; Q92623; -.
DR ProteomicsDB; 75378; -.
DR Antibodypedia; 55304; 1 antibodies from 1 providers.
DR DNASU; 23508; -.
DR Ensembl; ENST00000256367.3; ENSP00000256367.2; ENSG00000133985.3.
DR GeneID; 23508; -.
DR KEGG; hsa:23508; -.
DR MANE-Select; ENST00000256367.3; ENSP00000256367.2; NM_015351.2; NP_056166.1.
DR UCSC; uc001xmi.2; human.
DR CTD; 23508; -.
DR DisGeNET; 23508; -.
DR GeneCards; TTC9; -.
DR HGNC; HGNC:20267; TTC9.
DR HPA; ENSG00000133985; Tissue enhanced (esophagus).
DR MIM; 610488; gene.
DR neXtProt; NX_Q92623; -.
DR OpenTargets; ENSG00000133985; -.
DR PharmGKB; PA134905515; -.
DR VEuPathDB; HostDB:ENSG00000133985; -.
DR eggNOG; ENOG502QZUJ; Eukaryota.
DR GeneTree; ENSGT00940000161472; -.
DR HOGENOM; CLU_100621_0_0_1; -.
DR InParanoid; Q92623; -.
DR OMA; CHGRHEA; -.
DR OrthoDB; 1535136at2759; -.
DR PhylomeDB; Q92623; -.
DR TreeFam; TF331917; -.
DR PathwayCommons; Q92623; -.
DR SignaLink; Q92623; -.
DR BioGRID-ORCS; 23508; 7 hits in 1069 CRISPR screens.
DR ChiTaRS; TTC9; human.
DR GenomeRNAi; 23508; -.
DR Pharos; Q92623; Tdark.
DR PRO; PR:Q92623; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q92623; protein.
DR Bgee; ENSG00000133985; Expressed in amniotic fluid and 159 other tissues.
DR ExpressionAtlas; Q92623; baseline and differential.
DR Genevisible; Q92623; HS.
DR GO; GO:0060348; P:bone development; IEA:Ensembl.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR013105; TPR_2.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF07719; TPR_2; 1.
DR SMART; SM00028; TPR; 3.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50005; TPR; 1.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 1: Evidence at protein level;
KW Phosphoprotein; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..222
FT /note="Tetratricopeptide repeat protein 9A"
FT /id="PRO_0000106390"
FT REPEAT 56..89
FT /note="TPR 1"
FT REPEAT 125..160
FT /note="TPR 2"
FT REPEAT 161..194
FT /note="TPR 3"
FT REGION 1..49
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 88..116
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 19..33
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 105
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 103
FT /note="P -> A (in dbSNP:rs4902834)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9039502, ECO:0007744|PubMed:23186163"
FT /id="VAR_060330"
SQ SEQUENCE 222 AA; 24379 MW; 0D003880776EA85F CRC64;
MERKGSAAGA KGNPSPPAAG EGQRPPPPLC VPGGGGGAPA RGQVGAAAEP AELIRRAHEF
KSQGAQCYKD KKFREAIGKY HRALLELKGL LPPPGERERD SRPASPAGAL KPGRLSEEQS
KTVEAIEIDC YNSLAACLLQ AELVNYERVK EYCLKVLKKE GENFKALYRS GVAFYHLGDY
DKALYYLKEA RTQQPTDTNV IRYIQLTEMK LSRCSQREKE AM
