TTC37_HUMAN
ID TTC37_HUMAN Reviewed; 1564 AA.
AC Q6PGP7; O15077; Q6PJI3;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Tetratricopeptide repeat protein 37;
DE Short=TPR repeat protein 37;
DE AltName: Full=SKI3 homolog;
DE Short=Ski3;
DE AltName: Full=Tricho-hepatic-enteric syndrome protein;
DE Short=Thespin;
GN Name=TTC37; Synonyms=KIAA0372;
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].
RC TISSUE=Brain;
RX PubMed=9205841; DOI=10.1093/dnares/4.2.141;
RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VII. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 4:141-150(1997).
RN [2]
RP SEQUENCE REVISION.
RA Ohara O., Nagase T., Kikuno R., Nomura N.;
RL Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung carcinoma, and Melanoma;
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 SUBCELLULAR LOCATION, INTERACTION WITH PAF1, AND IDENTIFICATION IN THE SKI
RP COMPLEX.
RX PubMed=16024656; DOI=10.1101/gad.1292105;
RA Zhu B., Mandal S.S., Pham A.D., Zheng Y., Erdjument-Bromage H., Batra S.K.,
RA Tempst P., Reinberg D.;
RT "The human PAF complex coordinates transcription with events downstream of
RT RNA synthesis.";
RL Genes Dev. 19:1668-1673(2005).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP TISSUE SPECIFICITY, VARIANTS 860-ASN--GLU-878 DEL; ASP-1077; ALA-1270 AND
RP ARG-1485, AND ASSOCIATION WITH THES1.
RX PubMed=21120949; DOI=10.1002/humu.21420;
RA Fabre A., Martinez-Vinson C., Roquelaure B., Missirian C., Andre N.,
RA Breton A., Lachaux A., Odul E., Colomb V., Lemale J., Cezard J.P.,
RA Goulet O., Sarles J., Levy N., Badens C.;
RT "Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome.";
RL Hum. Mutat. 32:277-281(2011).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
RP 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 [9]
RP VARIANTS THES1 ARG-251; ASN-1283 AND SER-1505.
RX PubMed=20176027; DOI=10.1053/j.gastro.2010.02.010;
RA Hartley J.L., Zachos N.C., Dawood B., Donowitz M., Forman J., Pollitt R.J.,
RA Morgan N.V., Tee L., Gissen P., Kahr W.H., Knisely A.S., Watson S.,
RA Chitayat D., Booth I.W., Protheroe S., Murphy S., de Vries E., Kelly D.A.,
RA Maher E.R.;
RT "Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea
RT of infancy).";
RL Gastroenterology 138:2388-2398(2010).
CC -!- FUNCTION: Component of the SKI complex which is thought to be involved
CC in exosome-mediated RNA decay and associates with transcriptionally
CC active genes in a manner dependent on PAF1 complex (PAF1C).
CC -!- SUBUNIT: Component of the SKI complex which consists of WDR61, SKIV2L
CC and TTC37. Interacts with PAF1. {ECO:0000269|PubMed:16024656}.
CC -!- INTERACTION:
CC Q6PGP7; Q8N7H5: PAF1; NbExp=2; IntAct=EBI-6083436, EBI-2607770;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16024656}. Nucleus
CC {ECO:0000269|PubMed:16024656}.
CC -!- TISSUE SPECIFICITY: Widely expressed with the highest levels observed
CC in vascular tissues, lymph node, pituitary, lung and intestine. Not
CC expressed in the liver. {ECO:0000269|PubMed:21120949}.
CC -!- DISEASE: Trichohepatoenteric syndrome 1 (THES1) [MIM:222470]: A
CC syndrome characterized by intrauterine growth retardation, severe
CC diarrhea in infancy requiring total parenteral nutrition, facial
CC dysmorphism, immunodeficiency, and hair abnormalities, mostly
CC trichorrhexis nodosa. Hepatic involvement contributes to the poor
CC prognosis of affected patients. {ECO:0000269|PubMed:20176027}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA20827.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB002370; BAA20827.2; ALT_INIT; mRNA.
DR EMBL; BC015163; AAH15163.1; -; mRNA.
DR EMBL; BC056893; AAH56893.1; -; mRNA.
DR CCDS; CCDS4072.1; -.
DR RefSeq; NP_055454.1; NM_014639.3.
DR PDB; 7QDR; EM; 3.70 A; B=1-1564.
DR PDB; 7QDS; EM; 3.80 A; B=1-1564.
DR PDB; 7QDY; EM; 3.10 A; B=1-1564.
DR PDB; 7QDZ; EM; 3.60 A; B=1-1564.
DR PDBsum; 7QDR; -.
DR PDBsum; 7QDS; -.
DR PDBsum; 7QDY; -.
DR PDBsum; 7QDZ; -.
DR AlphaFoldDB; Q6PGP7; -.
DR SMR; Q6PGP7; -.
DR BioGRID; 115010; 93.
DR CORUM; Q6PGP7; -.
DR IntAct; Q6PGP7; 30.
DR MINT; Q6PGP7; -.
DR STRING; 9606.ENSP00000351596; -.
DR GlyGen; Q6PGP7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6PGP7; -.
DR PhosphoSitePlus; Q6PGP7; -.
DR BioMuta; TTC37; -.
DR DMDM; 74758339; -.
DR EPD; Q6PGP7; -.
DR jPOST; Q6PGP7; -.
DR MassIVE; Q6PGP7; -.
DR MaxQB; Q6PGP7; -.
DR PaxDb; Q6PGP7; -.
DR PeptideAtlas; Q6PGP7; -.
DR PRIDE; Q6PGP7; -.
DR ProteomicsDB; 67118; -.
DR Antibodypedia; 48952; 28 antibodies from 16 providers.
DR DNASU; 9652; -.
DR Ensembl; ENST00000358746.7; ENSP00000351596.3; ENSG00000198677.12.
DR Ensembl; ENST00000649566.1; ENSP00000497948.1; ENSG00000198677.12.
DR GeneID; 9652; -.
DR KEGG; hsa:9652; -.
DR MANE-Select; ENST00000358746.7; ENSP00000351596.3; NM_014639.4; NP_055454.1.
DR UCSC; uc003klb.4; human.
DR CTD; 9652; -.
DR DisGeNET; 9652; -.
DR GeneCards; TTC37; -.
DR GeneReviews; TTC37; -.
DR HGNC; HGNC:23639; TTC37.
DR HPA; ENSG00000198677; Low tissue specificity.
DR MalaCards; TTC37; -.
DR MIM; 222470; phenotype.
DR MIM; 614589; gene.
DR neXtProt; NX_Q6PGP7; -.
DR OpenTargets; ENSG00000198677; -.
DR Orphanet; 84064; Syndromic diarrhea.
DR PharmGKB; PA162407226; -.
DR VEuPathDB; HostDB:ENSG00000198677; -.
DR eggNOG; KOG1127; Eukaryota.
DR GeneTree; ENSGT00390000016407; -.
DR HOGENOM; CLU_003788_1_0_1; -.
DR InParanoid; Q6PGP7; -.
DR OMA; FNLWKAV; -.
DR OrthoDB; 347760at2759; -.
DR PhylomeDB; Q6PGP7; -.
DR TreeFam; TF323569; -.
DR PathwayCommons; Q6PGP7; -.
DR Reactome; R-HSA-429958; mRNA decay by 3' to 5' exoribonuclease.
DR SignaLink; Q6PGP7; -.
DR BioGRID-ORCS; 9652; 38 hits in 1083 CRISPR screens.
DR ChiTaRS; TTC37; human.
DR GenomeRNAi; 9652; -.
DR Pharos; Q6PGP7; Tbio.
DR PRO; PR:Q6PGP7; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q6PGP7; protein.
DR Bgee; ENSG00000198677; Expressed in calcaneal tendon and 206 other tissues.
DR ExpressionAtlas; Q6PGP7; baseline and differential.
DR Genevisible; Q6PGP7; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0000791; C:euchromatin; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0055087; C:Ski complex; IDA:UniProtKB.
DR GO; GO:0034427; P:nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'; IBA:GO_Central.
DR Gene3D; 1.25.40.10; -; 8.
DR InterPro; IPR039226; Ski3/TTC37.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR PANTHER; PTHR15704; PTHR15704; 1.
DR Pfam; PF13181; TPR_8; 3.
DR SMART; SM00028; TPR; 14.
DR SUPFAM; SSF48452; SSF48452; 5.
DR PROSITE; PS50005; TPR; 12.
DR PROSITE; PS50293; TPR_REGION; 5.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Cytoplasm; Nucleus; Reference proteome; Repeat;
KW TPR repeat.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CHAIN 2..1564
FT /note="Tetratricopeptide repeat protein 37"
FT /id="PRO_0000251722"
FT REPEAT 6..39
FT /note="TPR 1"
FT REPEAT 40..73
FT /note="TPR 2"
FT REPEAT 272..305
FT /note="TPR 3"
FT REPEAT 307..339
FT /note="TPR 4"
FT REPEAT 386..419
FT /note="TPR 5"
FT REPEAT 420..453
FT /note="TPR 6"
FT REPEAT 455..492
FT /note="TPR 7"
FT REPEAT 493..527
FT /note="TPR 8"
FT REPEAT 564..597
FT /note="TPR 9"
FT REPEAT 598..631
FT /note="TPR 10"
FT REPEAT 633..665
FT /note="TPR 11"
FT REPEAT 679..713
FT /note="TPR 12"
FT REPEAT 790..824
FT /note="TPR 13"
FT REPEAT 826..860
FT /note="TPR 14"
FT REPEAT 861..894
FT /note="TPR 15"
FT REPEAT 980..1013
FT /note="TPR 16"
FT REPEAT 1020..1054
FT /note="TPR 17"
FT REPEAT 1056..1084
FT /note="TPR 18"
FT REPEAT 1326..1359
FT /note="TPR 19"
FT REPEAT 1400..1433
FT /note="TPR 20"
FT MOD_RES 2
FT /note="N-acetylserine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT VARIANT 251
FT /note="G -> R (in THES1; dbSNP:rs763816083)"
FT /evidence="ECO:0000269|PubMed:20176027"
FT /id="VAR_067957"
FT VARIANT 437
FT /note="L -> V (in dbSNP:rs17084873)"
FT /id="VAR_027705"
FT VARIANT 860..878
FT /note="Missing (found in a THES1 patient)"
FT /evidence="ECO:0000269|PubMed:21120949"
FT /id="VAR_065297"
FT VARIANT 1077
FT /note="A -> D (found in a THES1 patient)"
FT /evidence="ECO:0000269|PubMed:21120949"
FT /id="VAR_065298"
FT VARIANT 1270
FT /note="P -> A (found in a THES1 patient;
FT dbSNP:rs146627706)"
FT /evidence="ECO:0000269|PubMed:21120949"
FT /id="VAR_065299"
FT VARIANT 1283
FT /note="D -> N (in THES1)"
FT /evidence="ECO:0000269|PubMed:20176027"
FT /id="VAR_067958"
FT VARIANT 1296
FT /note="R -> S (in dbSNP:rs2303650)"
FT /id="VAR_027706"
FT VARIANT 1485
FT /note="L -> R (found in a THES1 patient)"
FT /evidence="ECO:0000269|PubMed:21120949"
FT /id="VAR_065300"
FT VARIANT 1505
FT /note="L -> S (in THES1; dbSNP:rs376720108)"
FT /evidence="ECO:0000269|PubMed:20176027"
FT /id="VAR_067959"
SQ SEQUENCE 1564 AA; 175486 MW; 12D6B45B4A6F367A CRC64;
MSSKEVKTAL KSARDAIRNK EYKEALKHCK TVLKQEKNNY NAWVFIGVAA AELEQPDQAQ
SAYKKAAELE PDQLLAWQGL ANLYEKYNHI NAKDDLPGVY QKLLDLYESV DKQKWCDVCK
KLVDLYYQEK KHLEVARTWH KLIKTRQEQG AENEELHQLW RKLTQFLAES TEDQNNETQQ
LLFTAFENAL GLSDKIPSED HQVLYRHFIQ SLSKFPHESA RLKKACEGMI NIYPTVQYPL
EVLCLHLIES GNLTDEGQQY CCRLVEMDSK SGPGLIGLGI KALQDKKYED AVRNLTEGLK
ESPVCTSGWY HLAEAQVKMH RPKEAVLSCS QALKIVDNLG ASGNSLYQRN LCLHLKAEAL
IKLSDYDSSE EAIRTLDQIS DADNIPGLLV LKSLAYRNKG SFDEAAKIME DLLSSYPDLA
EVHALEALIH FTKKDYLQAE KCFQRALEKD TEVAEYHYQL GLTYWFMGEE TRKDKTKALT
HFLKAARLDT YMGKVFCYLG HYYRDVVGDK NRARGCYRKA FELDDTDAES GAAAVDLSVE
LEDMEMALAI LTTVTQKASA GTAKWAWLRR GLYYLKAGQH SQAVADLQAA LRADPKDFNC
WESLGEAYLS RGGYTTALKS FTKASELNPE SIYSVFKVAA IQQILGKYKE AVAQYQMIIK
KKEDYVPALK GLGECHLMMA KAALVDYLDG KAVDYIEKAL EYFTCALQHR ADVSCLWKLA
GDACTCLYAV APSKVNVHVL GVLLGQKEGK QVLKKNELLH LGGRCYGRAL KLMSTSNTWC
DLGINYYRQA QHLAETGSNM NDLKELLEKS LHCLKKAVRL DSNNHLYWNA LGVVACYSGI
GNYALAQHCF IKSIQSEQIN AVAWTNLGVL YLTNENIEQA HEAFKMAQSL DPSYLMCWIG
QALIAEAVGS YDTMDLFRHT TELNMHTEGA LGYAYWVCTT LQDKSNRETE LYQYNILQMN
AIPAAQVILN KYVERIQNYA PAFTMLGYLN EHLQLKKEAA NAYQRAILLL QTAEDQDTYN
VAIRNYGRLL CSTGEYDKAI QAFKSTPLEV LEDIIGFALA LFMKGLYKES SKAYERALSI
VESEQDKAHI LTALAITEYK QGKTDVAKTL LFKCSILKEP TTESLQALCA LGLAMQDATL
SKAALNELLK HIKHKDSNYQ RCLLTSAIYA LQGRSVAVQK QISKAVHSNP GDPALWSLLS
RVVAQYAQRN AKGGVVAGNV AHILDSNHGK KALLYTAVNQ LAMGSSSAED EKNTALKTIQ
KAALLSPGDP AIWAGLMAAC HADDKLALVN NTQPKRIDLY LALLSAVSAS IKDEKFFENY
NQSLEKWSLS QAVTGLIDTG RISEAETLCT KNLKSNPDQP AVILLLRQVQ CKPLLESQKP
LPDAVLEELQ KTVMSNSTSV PAWQWLAHVY QSQGMMRAAE MCYRKSLQLA SQRGSWSGKL
SSLLRLALLA LKVCMANISN DHWPSLVQEA TTEALKLCFC PLAVLLQALL QFKRKMGARE
TRRLLERVVY QPGYPKSIAS TARWYLLRHL YAKDDYELID VLVNNAKTHG DTRALELNQR
LSSQ
