TTC6_HUMAN
ID TTC6_HUMAN Reviewed; 520 AA.
AC Q86TZ1; Q3SY88; Q96CE6;
DT 26-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Tetratricopeptide repeat protein 6;
DE Short=TPR repeat protein 6;
GN Name=TTC6 {ECO:0000312|HGNC:HGNC:19739};
GN Synonyms=C14orf25 {ECO:0000312|HGNC:HGNC:19739},
GN NCRNA00291 {ECO:0000312|HGNC:HGNC:19739};
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=Neuroblastoma;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
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] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 198-520 (ISOFORM 1).
RC TISSUE=Urinary bladder;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86TZ1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86TZ1-2; Sequence=VSP_056321, VSP_056322, VSP_056323,
CC VSP_056324;
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DR EMBL; BX161415; CAD61890.1; -; mRNA.
DR EMBL; AL121790; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL136296; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL163151; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL359233; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC014342; AAH14342.2; -; mRNA.
DR EMBL; BC103914; AAI03915.1; -; mRNA.
DR AlphaFoldDB; Q86TZ1; -.
DR SMR; Q86TZ1; -.
DR iPTMnet; Q86TZ1; -.
DR PhosphoSitePlus; Q86TZ1; -.
DR BioMuta; TTC6; -.
DR DMDM; 37088302; -.
DR MassIVE; Q86TZ1; -.
DR PaxDb; Q86TZ1; -.
DR PeptideAtlas; Q86TZ1; -.
DR PRIDE; Q86TZ1; -.
DR ProteomicsDB; 61848; -.
DR ProteomicsDB; 69747; -. [Q86TZ1-1]
DR Antibodypedia; 23306; 71 antibodies from 14 providers.
DR Ensembl; ENST00000267368.11; ENSP00000267368.7; ENSG00000139865.16. [Q86TZ1-1]
DR Ensembl; ENST00000476979.5; ENSP00000417788.1; ENSG00000139865.16. [Q86TZ1-1]
DR UCSC; uc001wuh.4; human. [Q86TZ1-1]
DR GeneCards; TTC6; -.
DR HGNC; HGNC:19739; TTC6.
DR HPA; ENSG00000139865; Tissue enhanced (breast, prostate).
DR neXtProt; NX_Q86TZ1; -.
DR OpenTargets; ENSG00000139865; -.
DR VEuPathDB; HostDB:ENSG00000139865; -.
DR GeneTree; ENSGT00940000161150; -.
DR InParanoid; Q86TZ1; -.
DR OMA; MFNDEND; -.
DR PhylomeDB; Q86TZ1; -.
DR PathwayCommons; Q86TZ1; -.
DR ChiTaRS; TTC6; human.
DR Pharos; Q86TZ1; Tdark.
DR PRO; PR:Q86TZ1; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q86TZ1; protein.
DR Bgee; ENSG00000139865; Expressed in buccal mucosa cell and 128 other tissues.
DR ExpressionAtlas; Q86TZ1; baseline and differential.
DR Genevisible; Q86TZ1; HS.
DR Gene3D; 1.25.40.10; -; 5.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR001440; TPR_1.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF00515; TPR_1; 2.
DR Pfam; PF13181; TPR_8; 2.
DR SMART; SM00028; TPR; 12.
DR SUPFAM; SSF48452; SSF48452; 3.
DR PROSITE; PS50005; TPR; 10.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..520
FT /note="Tetratricopeptide repeat protein 6"
FT /id="PRO_0000106384"
FT REPEAT 57..90
FT /note="TPR 1"
FT REPEAT 101..138
FT /note="TPR 2"
FT REPEAT 139..172
FT /note="TPR 3"
FT REPEAT 176..209
FT /note="TPR 4"
FT REPEAT 210..243
FT /note="TPR 5"
FT REPEAT 245..280
FT /note="TPR 6"
FT REPEAT 281..314
FT /note="TPR 7"
FT REPEAT 320..347
FT /note="TPR 8"
FT REPEAT 348..381
FT /note="TPR 9"
FT REPEAT 382..415
FT /note="TPR 10"
FT REPEAT 416..449
FT /note="TPR 11"
FT REPEAT 450..483
FT /note="TPR 12"
FT REPEAT 484..517
FT /note="TPR 13"
FT VAR_SEQ 1..17
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056321"
FT VAR_SEQ 119
FT /note="M -> MAFDSFTKAVKANPDFAESFYQRGLCKVKLHKDSSILDFNRAITLNP
FT KHYQAYLSRVAFYGLKGRYSKAILNCNKAIKIYPESVRAYLYRGVLKYYNK (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056322"
FT VAR_SEQ 401..456
FT /note="ASDYFSKALKFDPENEYVLMNRAITNTILKKYEEAKEDFANVIESCPFWAAV
FT YFNR -> EESLGLAWSLSLDSFLRTGGATFSSGVNPLQTLHRRMSILSPLPPTCPRDE
FT MDFTS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056323"
FT VAR_SEQ 457..520
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056324"
FT VARIANT 87
FT /note="I -> S (in dbSNP:rs12896790)"
FT /id="VAR_034132"
FT VARIANT 98
FT /note="A -> T (in dbSNP:rs17768654)"
FT /id="VAR_034133"
FT VARIANT 140
FT /note="T -> I (in dbSNP:rs4901284)"
FT /id="VAR_024677"
FT VARIANT 376
FT /note="T -> S (in dbSNP:rs17107176)"
FT /id="VAR_034134"
SQ SEQUENCE 520 AA; 59379 MW; 4F253FF28B54845E CRC64;
MMKYYDLAKF TIYQIAEMDK GLSELSPMQQ ALIYSFCENH DKAIEVLDGI SWNRAEMTMC
ALLAKVQMKA KRTKEAVEVL KKALDAISHS DKGPDATAIS ADCLYNLGLC YMEEGNLQMT
YKLAITDLTT AISMDKNSYT AFYNRALCYT KIRELQMALT DYGIVLLLDA TETVKLNTFL
NRGLIYVELG QYGFALEDFK QAALISRTNG SLCHATAMCH HRINEFEEAV NFFTWALKIN
PCFLDAYVGR GNSYMEYGHD EATKQAQKDF LKALHINPAY IKARISFGYN LQAQGKFQKA
WNHFTIAIDT DPKNYLAYEG RAVVCLQMGN NFAAMQDINA AMKISTTAEF LTNRGVIHEF
MGHKQNAMKD YQDAITLNPK YSLAYFNAGN IYFHHRQFSQ ASDYFSKALK FDPENEYVLM
NRAITNTILK KYEEAKEDFA NVIESCPFWA AVYFNRAHFY YCLKQYELAE EDLNKALSLK
PNDALVYNFR AKVRGKIGLI EEAMADYNQA LDLEDYASVI
