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Tetratricopeptide repeat protein 37 (TPR repeat protein 37) (SKI3 homolog) (Ski3) (Tricho-hepatic-enteric syndrome protein) (Thespin)

 TTC37_HUMAN             Reviewed;        1564 AA.
Q6PGP7; O15077; Q6PJI3;
03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
05-JUL-2004, sequence version 1.
05-DEC-2018, entry version 138.
RecName: Full=Tetratricopeptide repeat protein 37;
Short=TPR repeat protein 37;
AltName: Full=SKI3 homolog;
Short=Ski3;
AltName: Full=Tricho-hepatic-enteric syndrome protein;
Short=Thespin;
Name=TTC37; Synonyms=KIAA0372;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
PubMed=9205841; DOI=10.1093/dnares/4.2.141;
Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
Tanaka A., Kotani H., Nomura N., Ohara O.;
"Prediction of the coding sequences of unidentified human genes. VII.
The complete sequences of 100 new cDNA clones from brain which can
code for large proteins in vitro.";
DNA Res. 4:141-150(1997).
[2]
SEQUENCE REVISION.
Ohara O., Nagase T., Kikuno R., Nomura N.;
Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lung carcinoma, and Melanoma;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
SUBCELLULAR LOCATION, INTERACTION WITH PAF1, AND IDENTIFICATION IN THE
SKI COMPLEX.
PubMed=16024656; DOI=10.1101/gad.1292105;
Zhu B., Mandal S.S., Pham A.D., Zheng Y., Erdjument-Bromage H.,
Batra S.K., Tempst P., Reinberg D.;
"The human PAF complex coordinates transcription with events
downstream of RNA synthesis.";
Genes Dev. 19:1668-1673(2005).
[5]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[6]
TISSUE SPECIFICITY, VARIANTS 860-ASN--GLU-878 DEL; ASP-1077; ALA-1270
AND ARG-1485, AND ASSOCIATION WITH THES1.
PubMed=21120949; DOI=10.1002/humu.21420;
Fabre A., Martinez-Vinson C., Roquelaure B., Missirian C., Andre N.,
Breton A., Lachaux A., Odul E., Colomb V., Lemale J., Cezard J.P.,
Goulet O., Sarles J., Levy N., Badens C.;
"Novel mutations in TTC37 associated with Tricho-Hepato-Enteric
syndrome.";
Hum. Mutat. 32:277-281(2011).
[7]
ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS
SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=22814378; DOI=10.1073/pnas.1210303109;
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
Aldabe R.;
"N-terminal acetylome analyses and functional insights of the N-
terminal acetyltransferase NatB.";
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
[8]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[9]
VARIANTS THES1 ARG-251; ASN-1283 AND SER-1505.
PubMed=20176027; DOI=10.1053/j.gastro.2010.02.010;
Hartley J.L., Zachos N.C., Dawood B., Donowitz M., Forman J.,
Pollitt R.J., Morgan N.V., Tee L., Gissen P., Kahr W.H., Knisely A.S.,
Watson S., Chitayat D., Booth I.W., Protheroe S., Murphy S.,
de Vries E., Kelly D.A., Maher E.R.;
"Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic
diarrhea of infancy).";
Gastroenterology 138:2388-2398(2010).
-!- FUNCTION: Component of the SKI complex which is thought to be
involved in exosome-mediated RNA decay and associates with
transcriptionally active genes in a manner dependent on PAF1
complex (PAF1C).
-!- SUBUNIT: Component of the SKI complex which consists of WDR61,
SKIV2L and TTC37. Interacts with PAF1.
{ECO:0000269|PubMed:16024656}.
-!- INTERACTION:
Q8N7H5:PAF1; NbExp=2; IntAct=EBI-6083436, EBI-2607770;
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16024656}.
Nucleus {ECO:0000269|PubMed:16024656}.
-!- TISSUE SPECIFICITY: Widely expressed with the highest levels
observed in vascular tissues, lymph node, pituitary, lung and
intestine. Not expressed in the liver.
{ECO:0000269|PubMed:21120949}.
-!- DISEASE: Trichohepatoenteric syndrome 1 (THES1) [MIM:222470]: A
syndrome characterized by intrauterine growth retardation, severe
diarrhea in infancy requiring total parenteral nutrition, facial
dysmorphism, immunodeficiency, and hair abnormalities, mostly
trichorrhexis nodosa. Hepatic involvement contributes to the poor
prognosis of affected patients. {ECO:0000269|PubMed:20176027}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- SEQUENCE CAUTION:
Sequence=BAA20827.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AB002370; BAA20827.2; ALT_INIT; mRNA.
EMBL; BC015163; AAH15163.1; -; mRNA.
EMBL; BC056893; AAH56893.1; -; mRNA.
CCDS; CCDS4072.1; -.
RefSeq; NP_055454.1; NM_014639.3.
UniGene; Hs.482868; -.
ProteinModelPortal; Q6PGP7; -.
BioGrid; 115010; 31.
CORUM; Q6PGP7; -.
IntAct; Q6PGP7; 17.
MINT; Q6PGP7; -.
STRING; 9606.ENSP00000351596; -.
iPTMnet; Q6PGP7; -.
PhosphoSitePlus; Q6PGP7; -.
BioMuta; TTC37; -.
DMDM; 74758339; -.
EPD; Q6PGP7; -.
MaxQB; Q6PGP7; -.
PaxDb; Q6PGP7; -.
PeptideAtlas; Q6PGP7; -.
PRIDE; Q6PGP7; -.
ProteomicsDB; 67118; -.
Ensembl; ENST00000358746; ENSP00000351596; ENSG00000198677.
Ensembl; ENST00000649566; ENSP00000497948; ENSG00000198677.
GeneID; 9652; -.
KEGG; hsa:9652; -.
UCSC; uc003klb.4; human.
CTD; 9652; -.
DisGeNET; 9652; -.
EuPathDB; HostDB:ENSG00000198677.10; -.
GeneCards; TTC37; -.
GeneReviews; TTC37; -.
HGNC; HGNC:23639; TTC37.
HPA; HPA037905; -.
MalaCards; TTC37; -.
MIM; 222470; phenotype.
MIM; 614589; gene.
neXtProt; NX_Q6PGP7; -.
OpenTargets; ENSG00000198677; -.
Orphanet; 84064; Syndromic diarrhea.
PharmGKB; PA162407226; -.
eggNOG; KOG1127; Eukaryota.
eggNOG; ENOG410ZG1H; LUCA.
GeneTree; ENSGT00390000016407; -.
HOGENOM; HOG000154707; -.
HOVERGEN; HBG090717; -.
InParanoid; Q6PGP7; -.
KO; K12600; -.
OMA; AWTNLGT; -.
OrthoDB; EOG091G02BO; -.
PhylomeDB; Q6PGP7; -.
TreeFam; TF323569; -.
Reactome; R-HSA-429958; mRNA decay by 3' to 5' exoribonuclease.
ChiTaRS; TTC37; human.
GenomeRNAi; 9652; -.
PRO; PR:Q6PGP7; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000198677; Expressed in 230 organ(s), highest expression level in kidney.
CleanEx; HS_TTC37; -.
ExpressionAtlas; Q6PGP7; baseline and differential.
Genevisible; Q6PGP7; HS.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0055087; C:Ski complex; IDA:UniProtKB.
GO; GO:0035327; C:transcriptionally active chromatin; IDA:UniProtKB.
GO; GO:0043928; P:exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; TAS:Reactome.
Gene3D; 1.25.40.10; -; 5.
InterPro; IPR039226; Ski3/TTC37.
InterPro; IPR013026; TPR-contain_dom.
InterPro; IPR011990; TPR-like_helical_dom_sf.
InterPro; IPR019734; TPR_repeat.
PANTHER; PTHR15704; PTHR15704; 1.
Pfam; PF13181; TPR_8; 3.
SMART; SM00028; TPR; 14.
SUPFAM; SSF48452; SSF48452; 5.
PROSITE; PS50005; TPR; 12.
PROSITE; PS50293; TPR_REGION; 5.
1: Evidence at protein level;
Acetylation; Complete proteome; Cytoplasm; Nucleus; Polymorphism;
Reference proteome; Repeat; TPR repeat.
INIT_MET 1 1 Removed. {ECO:0000244|PubMed:22814378}.
CHAIN 2 1564 Tetratricopeptide repeat protein 37.
/FTId=PRO_0000251722.
REPEAT 6 39 TPR 1.
REPEAT 40 73 TPR 2.
REPEAT 272 305 TPR 3.
REPEAT 307 339 TPR 4.
REPEAT 386 419 TPR 5.
REPEAT 420 453 TPR 6.
REPEAT 455 492 TPR 7.
REPEAT 493 527 TPR 8.
REPEAT 564 597 TPR 9.
REPEAT 598 631 TPR 10.
REPEAT 633 665 TPR 11.
REPEAT 679 713 TPR 12.
REPEAT 790 824 TPR 13.
REPEAT 826 860 TPR 14.
REPEAT 861 894 TPR 15.
REPEAT 980 1013 TPR 16.
REPEAT 1020 1054 TPR 17.
REPEAT 1056 1084 TPR 18.
REPEAT 1326 1359 TPR 19.
REPEAT 1400 1433 TPR 20.
MOD_RES 2 2 N-acetylserine.
{ECO:0000244|PubMed:22814378}.
VARIANT 251 251 G -> R (in THES1; dbSNP:rs763816083).
{ECO:0000269|PubMed:20176027}.
/FTId=VAR_067957.
VARIANT 437 437 L -> V (in dbSNP:rs17084873).
/FTId=VAR_027705.
VARIANT 860 878 Missing (found in a THES1 patient).
{ECO:0000269|PubMed:21120949}.
/FTId=VAR_065297.
VARIANT 1077 1077 A -> D (found in a THES1 patient).
{ECO:0000269|PubMed:21120949}.
/FTId=VAR_065298.
VARIANT 1270 1270 P -> A (found in a THES1 patient;
dbSNP:rs146627706).
{ECO:0000269|PubMed:21120949}.
/FTId=VAR_065299.
VARIANT 1283 1283 D -> N (in THES1).
{ECO:0000269|PubMed:20176027}.
/FTId=VAR_067958.
VARIANT 1296 1296 R -> S (in dbSNP:rs2303650).
/FTId=VAR_027706.
VARIANT 1485 1485 L -> R (found in a THES1 patient).
{ECO:0000269|PubMed:21120949}.
/FTId=VAR_065300.
VARIANT 1505 1505 L -> S (in THES1; dbSNP:rs376720108).
{ECO:0000269|PubMed:20176027}.
/FTId=VAR_067959.
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


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