TTC17_HUMAN
ID TTC17_HUMAN Reviewed; 1141 AA.
AC Q96AE7; G3XAB3; Q8NEC0;
DT 27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Tetratricopeptide repeat protein 17;
DE Short=TPR repeat protein 17;
GN Name=TTC17;
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=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung, 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 [4]
RP FUNCTION, INTERACTION WITH CATIP, 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).
CC -!- FUNCTION: Plays a role in primary ciliogenesis by modulating actin
CC polymerization. {ECO:0000269|PubMed:24475127}.
CC -!- SUBUNIT: Interacts with CATIP. {ECO:0000269|PubMed:24475127}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24475127}. Cell
CC membrane {ECO:0000269|PubMed:24475127}. Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:24475127}. Note=Colocalized with CATIP at F-actin
CC rich zones and at dynamic plasma membrane protrusions.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96AE7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96AE7-2; Sequence=VSP_056857, VSP_056858, VSP_056859;
CC -!- TISSUE SPECIFICITY: Expressed in germ cells as well as in somatic cells
CC of the testis (at protein level). {ECO:0000269|PubMed:24475127}.
CC -!- SIMILARITY: Belongs to the TTC17 family. {ECO:0000305}.
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DR EMBL; AC023085; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC087276; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471064; EAW68094.1; -; Genomic_DNA.
DR EMBL; BC017238; AAH17238.1; -; mRNA.
DR EMBL; BC033000; AAH33000.1; -; mRNA.
DR CCDS; CCDS31466.1; -. [Q96AE7-1]
DR CCDS; CCDS76396.1; -. [Q96AE7-2]
DR RefSeq; NP_001294872.1; NM_001307943.1. [Q96AE7-2]
DR RefSeq; NP_060729.2; NM_018259.5. [Q96AE7-1]
DR AlphaFoldDB; Q96AE7; -.
DR BioGRID; 120879; 161.
DR IntAct; Q96AE7; 29.
DR STRING; 9606.ENSP00000039989; -.
DR GlyConnect; 1799; 3 N-Linked glycans (1 site).
DR GlyGen; Q96AE7; 1 site, 3 N-linked glycans (1 site).
DR iPTMnet; Q96AE7; -.
DR PhosphoSitePlus; Q96AE7; -.
DR BioMuta; TTC17; -.
DR DMDM; 52783467; -.
DR EPD; Q96AE7; -.
DR jPOST; Q96AE7; -.
DR MassIVE; Q96AE7; -.
DR MaxQB; Q96AE7; -.
DR PaxDb; Q96AE7; -.
DR PeptideAtlas; Q96AE7; -.
DR PRIDE; Q96AE7; -.
DR ProteomicsDB; 33701; -.
DR ProteomicsDB; 75960; -. [Q96AE7-1]
DR Antibodypedia; 26045; 40 antibodies from 16 providers.
DR DNASU; 55761; -.
DR Ensembl; ENST00000039989.9; ENSP00000039989.4; ENSG00000052841.15. [Q96AE7-1]
DR Ensembl; ENST00000299240.10; ENSP00000299240.5; ENSG00000052841.15. [Q96AE7-2]
DR GeneID; 55761; -.
DR KEGG; hsa:55761; -.
DR MANE-Select; ENST00000039989.9; ENSP00000039989.4; NM_018259.6; NP_060729.2.
DR UCSC; uc001mxh.4; human. [Q96AE7-1]
DR CTD; 55761; -.
DR DisGeNET; 55761; -.
DR GeneCards; TTC17; -.
DR HGNC; HGNC:25596; TTC17.
DR HPA; ENSG00000052841; Low tissue specificity.
DR MIM; 619388; gene.
DR neXtProt; NX_Q96AE7; -.
DR OpenTargets; ENSG00000052841; -.
DR PharmGKB; PA134912435; -.
DR VEuPathDB; HostDB:ENSG00000052841; -.
DR eggNOG; KOG4507; Eukaryota.
DR GeneTree; ENSGT00390000006196; -.
DR HOGENOM; CLU_008510_0_0_1; -.
DR InParanoid; Q96AE7; -.
DR OMA; PFRINTF; -.
DR OrthoDB; 310025at2759; -.
DR PhylomeDB; Q96AE7; -.
DR TreeFam; TF315005; -.
DR PathwayCommons; Q96AE7; -.
DR SignaLink; Q96AE7; -.
DR BioGRID-ORCS; 55761; 10 hits in 1077 CRISPR screens.
DR ChiTaRS; TTC17; human.
DR GenomeRNAi; 55761; -.
DR Pharos; Q96AE7; Tdark.
DR PRO; PR:Q96AE7; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96AE7; protein.
DR Bgee; ENSG00000052841; Expressed in right uterine tube and 194 other tissues.
DR ExpressionAtlas; Q96AE7; baseline and differential.
DR Genevisible; Q96AE7; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0030041; P:actin filament polymerization; IMP:UniProtKB.
DR GO; GO:0044782; P:cilium organization; IMP:UniProtKB.
DR Gene3D; 1.25.40.10; -; 3.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF13181; TPR_8; 2.
DR SMART; SM00028; TPR; 7.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50005; TPR; 4.
DR PROSITE; PS50293; TPR_REGION; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cilium biogenesis/degradation;
KW Coiled coil; Cytoplasm; Cytoskeleton; Membrane; Reference proteome; Repeat;
KW TPR repeat.
FT CHAIN 1..1141
FT /note="Tetratricopeptide repeat protein 17"
FT /id="PRO_0000106406"
FT REPEAT 295..328
FT /note="TPR 1"
FT REPEAT 619..652
FT /note="TPR 2"
FT REPEAT 689..722
FT /note="TPR 3"
FT REPEAT 1014..1048
FT /note="TPR 4"
FT REPEAT 1051..1084
FT /note="TPR 5"
FT REPEAT 1085..1118
FT /note="TPR 6"
FT COILED 340..382
FT /evidence="ECO:0000255"
FT VAR_SEQ 751
FT /note="G -> GNCHEKTLDNSHDKQKYFDNSQSLDAAEEEPSERGTEEDPVFSVENS
FT GRDSDALRLES (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056857"
FT VAR_SEQ 890..898
FT /note="KKRDYQRLG -> LLDWKTRKV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056858"
FT VAR_SEQ 899..1140
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056859"
FT VARIANT 145
FT /note="I -> L (in dbSNP:rs12099204)"
FT /id="VAR_034135"
FT VARIANT 270
FT /note="N -> H (in dbSNP:rs16937479)"
FT /id="VAR_052627"
FT CONFLICT Q96AE7-2:787
FT /note="E -> G (in Ref. 3; AAH33000)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1141 AA; 129558 MW; 728A031FED8BDE3E CRC64;
MAAAVGVRGR YELPPCSGPG WLLSLSALLS VAARGAFATT HWVVTEDGKI QQQVDSPMNL
KHPHDLVILM RQEATVNYLK ELEKQLVAQK IHIEENEDRD TGLEQRHNKE DPDCIKAKVP
LGDLDLYDGT YITLESKDIS PEDYIDTESP VPPDPEQPDC TKILELPYSI HAFQHLRGVQ
ERVNLSAPLL PKEDPIFTYL SKRLGRSIDD IGHLIHEGLQ KNTSSWVLYN MASFYWRIKN
EPYQVVECAM RALHFSSRHN KDIALVNLAN VLHRAHFSAD AAVVVHAALD DSDFFTSYYT
LGNIYAMLGE YNHSVLCYDH ALQARPGFEQ AIKRKHAVLC QQKLEQKLEA QHRSLQRTLN
ELKEYQKQHD HYLRQQEILE KHKLIQEEQI LRNIIHETQM AKEAQLGNHQ ICRLVNQQHS
LHCQWDQPVR YHRGDIFENV DYVQFGEDSS TSSMMSVNFD VQSNQSDIND SVKSSPVAHS
ILWIWGRDSD AYRDKQHILW PKRADCTESY PRVPVGGELP TYFLPPENKG LRIHELSSDD
YSTEEEAQTP DCSITDFRKS HTLSYLVKEL EVRMDLKAKM PDDHARKILL SRINNYTIPE
EEIGSFLFHA INKPNAPIWL ILNEAGLYWR AVGNSTFAIA CLQRALNLAP LQYQDVPLVN
LANLLIHYGL HLDATKLLLQ ALAINSSEPL TFLSLGNAYL ALKNISGALE AFRQALKLTT
KCPECENSLK LIRCMQFYPF LYNITSSVCS GTVVEESNGS DEMENSDETK MSEEILALVD
EFQQAWPLEG FGGALEMKGR RLDLQGIRVL KKGPQDGVAR SSCYGDCRSE DDEATEWITF
QVKRVKKPKG DHKKTPGKKV ETGQIENGHR YQANLEITGP KVASPGPQGK KRDYQRLGWP
SPDECLKLRW VELTAIVSTW LAVSSKNIDI TEHIDFATPI QQPAMEPLCN GNLPTSMHTL
DHLHGVSNRA SLHYTGESQL TEVLQNLGKD QYPQQSLEQI GTRIAKVLEK NQTSWVLSSM
AALYWRVKGQ GKKAIDCLRQ ALHYAPHQMK DVPLISLANI LHNAKLWNDA VIVATMAVEI
APHFAVNHFT LGNVYVAMEE FEKALVWYES TLKLQPEFVP AKNRIQTIQC HLMLKKGRRS
P
