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Protein

Tetratricopeptide repeat protein 37

Gene

TTC37

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 37
Short name:
TPR repeat protein 37
Alternative name(s):
SKI3 homolog
Short name:
Ski3
Tricho-hepatic-enteric syndrome protein
Short name:
Thespin
Gene namesi
Name:TTC37
Synonyms:KIAA0372
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:23639. TTC37.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • Ski complex Source: UniProtKB
  • transcriptionally active chromatin Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Trichohepatoenteric syndrome 1 (THES1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:222470
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti251 – 2511G → R in THES1. 1 Publication
VAR_067957
Natural varianti860 – 87819Missing Found in a THES1 patient. 1 Publication
VAR_065297Add
BLAST
Natural varianti1077 – 10771A → D Found in a THES1 patient. 1 Publication
VAR_065298
Natural varianti1270 – 12701P → A Found in a THES1 patient. 1 Publication
Corresponds to variant rs146627706 [ dbSNP | Ensembl ].
VAR_065299
Natural varianti1283 – 12831D → N in THES1. 1 Publication
VAR_067958
Natural varianti1485 – 14851L → R Found in a THES1 patient. 1 Publication
VAR_065300
Natural varianti1505 – 15051L → S in THES1. 1 Publication
VAR_067959

Organism-specific databases

MalaCardsiTTC37.
MIMi222470. phenotype.
Orphaneti84064. Syndromic diarrhea.
PharmGKBiPA162407226.

Polymorphism and mutation databases

BioMutaiTTC37.
DMDMi74758339.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 15641563Tetratricopeptide repeat protein 37PRO_0000251722Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ6PGP7.
MaxQBiQ6PGP7.
PaxDbiQ6PGP7.
PeptideAtlasiQ6PGP7.
PRIDEiQ6PGP7.

PTM databases

iPTMnetiQ6PGP7.
PhosphoSiteiQ6PGP7.

Expressioni

Tissue specificityi

Widely expressed with the highest levels observed in vascular tissues, lymph node, pituitary, lung and intestine. Not expressed in the liver.1 Publication

Gene expression databases

BgeeiQ6PGP7.
CleanExiHS_TTC37.
ExpressionAtlasiQ6PGP7. baseline and differential.
GenevisibleiQ6PGP7. HS.

Organism-specific databases

HPAiHPA037905.

Interactioni

Subunit structurei

Component of the SKI complex which consists of WDR61, SKIV2L and TTC37. Interacts with PAF1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PAF1Q8N7H52EBI-6083436,EBI-2607770

Protein-protein interaction databases

BioGridi115010. 29 interactions.
IntActiQ6PGP7. 15 interactions.
MINTiMINT-1194694.
STRINGi9606.ENSP00000351596.

Structurei

3D structure databases

ProteinModelPortaliQ6PGP7.
SMRiQ6PGP7. Positions 2-84, 268-334, 395-701, 821-910, 972-1008, 1397-1429.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati6 – 3934TPR 1Add
BLAST
Repeati40 – 7334TPR 2Add
BLAST
Repeati272 – 30534TPR 3Add
BLAST
Repeati307 – 33933TPR 4Add
BLAST
Repeati386 – 41934TPR 5Add
BLAST
Repeati420 – 45334TPR 6Add
BLAST
Repeati455 – 49238TPR 7Add
BLAST
Repeati493 – 52735TPR 8Add
BLAST
Repeati564 – 59734TPR 9Add
BLAST
Repeati598 – 63134TPR 10Add
BLAST
Repeati633 – 66533TPR 11Add
BLAST
Repeati679 – 71335TPR 12Add
BLAST
Repeati790 – 82435TPR 13Add
BLAST
Repeati826 – 86035TPR 14Add
BLAST
Repeati861 – 89434TPR 15Add
BLAST
Repeati980 – 101334TPR 16Add
BLAST
Repeati1020 – 105435TPR 17Add
BLAST
Repeati1056 – 108429TPR 18Add
BLAST
Repeati1326 – 135934TPR 19Add
BLAST
Repeati1400 – 143334TPR 20Add
BLAST

Sequence similaritiesi

Contains 20 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1127. Eukaryota.
ENOG410ZG1H. LUCA.
GeneTreeiENSGT00390000016407.
HOGENOMiHOG000154707.
HOVERGENiHBG090717.
InParanoidiQ6PGP7.
KOiK12600.
OMAiAACHTEN.
OrthoDBiEOG7JHM4S.
PhylomeDBiQ6PGP7.
TreeFamiTF323569.

Family and domain databases

Gene3Di1.25.40.10. 8 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF13181. TPR_8. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 14 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 6 hits.
PROSITEiPS50005. TPR. 12 hits.
PS50293. TPR_REGION. 5 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q6PGP7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSSKEVKTAL KSARDAIRNK EYKEALKHCK TVLKQEKNNY NAWVFIGVAA
60 70 80 90 100
AELEQPDQAQ SAYKKAAELE PDQLLAWQGL ANLYEKYNHI NAKDDLPGVY
110 120 130 140 150
QKLLDLYESV DKQKWCDVCK KLVDLYYQEK KHLEVARTWH KLIKTRQEQG
160 170 180 190 200
AENEELHQLW RKLTQFLAES TEDQNNETQQ LLFTAFENAL GLSDKIPSED
210 220 230 240 250
HQVLYRHFIQ SLSKFPHESA RLKKACEGMI NIYPTVQYPL EVLCLHLIES
260 270 280 290 300
GNLTDEGQQY CCRLVEMDSK SGPGLIGLGI KALQDKKYED AVRNLTEGLK
310 320 330 340 350
ESPVCTSGWY HLAEAQVKMH RPKEAVLSCS QALKIVDNLG ASGNSLYQRN
360 370 380 390 400
LCLHLKAEAL IKLSDYDSSE EAIRTLDQIS DADNIPGLLV LKSLAYRNKG
410 420 430 440 450
SFDEAAKIME DLLSSYPDLA EVHALEALIH FTKKDYLQAE KCFQRALEKD
460 470 480 490 500
TEVAEYHYQL GLTYWFMGEE TRKDKTKALT HFLKAARLDT YMGKVFCYLG
510 520 530 540 550
HYYRDVVGDK NRARGCYRKA FELDDTDAES GAAAVDLSVE LEDMEMALAI
560 570 580 590 600
LTTVTQKASA GTAKWAWLRR GLYYLKAGQH SQAVADLQAA LRADPKDFNC
610 620 630 640 650
WESLGEAYLS RGGYTTALKS FTKASELNPE SIYSVFKVAA IQQILGKYKE
660 670 680 690 700
AVAQYQMIIK KKEDYVPALK GLGECHLMMA KAALVDYLDG KAVDYIEKAL
710 720 730 740 750
EYFTCALQHR ADVSCLWKLA GDACTCLYAV APSKVNVHVL GVLLGQKEGK
760 770 780 790 800
QVLKKNELLH LGGRCYGRAL KLMSTSNTWC DLGINYYRQA QHLAETGSNM
810 820 830 840 850
NDLKELLEKS LHCLKKAVRL DSNNHLYWNA LGVVACYSGI GNYALAQHCF
860 870 880 890 900
IKSIQSEQIN AVAWTNLGVL YLTNENIEQA HEAFKMAQSL DPSYLMCWIG
910 920 930 940 950
QALIAEAVGS YDTMDLFRHT TELNMHTEGA LGYAYWVCTT LQDKSNRETE
960 970 980 990 1000
LYQYNILQMN AIPAAQVILN KYVERIQNYA PAFTMLGYLN EHLQLKKEAA
1010 1020 1030 1040 1050
NAYQRAILLL QTAEDQDTYN VAIRNYGRLL CSTGEYDKAI QAFKSTPLEV
1060 1070 1080 1090 1100
LEDIIGFALA LFMKGLYKES SKAYERALSI VESEQDKAHI LTALAITEYK
1110 1120 1130 1140 1150
QGKTDVAKTL LFKCSILKEP TTESLQALCA LGLAMQDATL SKAALNELLK
1160 1170 1180 1190 1200
HIKHKDSNYQ RCLLTSAIYA LQGRSVAVQK QISKAVHSNP GDPALWSLLS
1210 1220 1230 1240 1250
RVVAQYAQRN AKGGVVAGNV AHILDSNHGK KALLYTAVNQ LAMGSSSAED
1260 1270 1280 1290 1300
EKNTALKTIQ KAALLSPGDP AIWAGLMAAC HADDKLALVN NTQPKRIDLY
1310 1320 1330 1340 1350
LALLSAVSAS IKDEKFFENY NQSLEKWSLS QAVTGLIDTG RISEAETLCT
1360 1370 1380 1390 1400
KNLKSNPDQP AVILLLRQVQ CKPLLESQKP LPDAVLEELQ KTVMSNSTSV
1410 1420 1430 1440 1450
PAWQWLAHVY QSQGMMRAAE MCYRKSLQLA SQRGSWSGKL SSLLRLALLA
1460 1470 1480 1490 1500
LKVCMANISN DHWPSLVQEA TTEALKLCFC PLAVLLQALL QFKRKMGARE
1510 1520 1530 1540 1550
TRRLLERVVY QPGYPKSIAS TARWYLLRHL YAKDDYELID VLVNNAKTHG
1560
DTRALELNQR LSSQ
Length:1,564
Mass (Da):175,486
Last modified:July 5, 2004 - v1
Checksum:i12D6B45B4A6F367A
GO

Sequence cautioni

The sequence BAA20827.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti251 – 2511G → R in THES1. 1 Publication
VAR_067957
Natural varianti437 – 4371L → V.
Corresponds to variant rs17084873 [ dbSNP | Ensembl ].
VAR_027705
Natural varianti860 – 87819Missing Found in a THES1 patient. 1 Publication
VAR_065297Add
BLAST
Natural varianti1077 – 10771A → D Found in a THES1 patient. 1 Publication
VAR_065298
Natural varianti1270 – 12701P → A Found in a THES1 patient. 1 Publication
Corresponds to variant rs146627706 [ dbSNP | Ensembl ].
VAR_065299
Natural varianti1283 – 12831D → N in THES1. 1 Publication
VAR_067958
Natural varianti1296 – 12961R → S.
Corresponds to variant rs2303650 [ dbSNP | Ensembl ].
VAR_027706
Natural varianti1485 – 14851L → R Found in a THES1 patient. 1 Publication
VAR_065300
Natural varianti1505 – 15051L → S in THES1. 1 Publication
VAR_067959

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002370 mRNA. Translation: BAA20827.2. Different initiation.
BC015163 mRNA. Translation: AAH15163.1.
BC056893 mRNA. Translation: AAH56893.1.
CCDSiCCDS4072.1.
RefSeqiNP_055454.1. NM_014639.3.
UniGeneiHs.482868.

Genome annotation databases

EnsembliENST00000358746; ENSP00000351596; ENSG00000198677.
GeneIDi9652.
KEGGihsa:9652.
UCSCiuc003klb.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002370 mRNA. Translation: BAA20827.2. Different initiation.
BC015163 mRNA. Translation: AAH15163.1.
BC056893 mRNA. Translation: AAH56893.1.
CCDSiCCDS4072.1.
RefSeqiNP_055454.1. NM_014639.3.
UniGeneiHs.482868.

3D structure databases

ProteinModelPortaliQ6PGP7.
SMRiQ6PGP7. Positions 2-84, 268-334, 395-701, 821-910, 972-1008, 1397-1429.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115010. 29 interactions.
IntActiQ6PGP7. 15 interactions.
MINTiMINT-1194694.
STRINGi9606.ENSP00000351596.

PTM databases

iPTMnetiQ6PGP7.
PhosphoSiteiQ6PGP7.

Polymorphism and mutation databases

BioMutaiTTC37.
DMDMi74758339.

Proteomic databases

EPDiQ6PGP7.
MaxQBiQ6PGP7.
PaxDbiQ6PGP7.
PeptideAtlasiQ6PGP7.
PRIDEiQ6PGP7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358746; ENSP00000351596; ENSG00000198677.
GeneIDi9652.
KEGGihsa:9652.
UCSCiuc003klb.4. human.

Organism-specific databases

CTDi9652.
GeneCardsiTTC37.
HGNCiHGNC:23639. TTC37.
HPAiHPA037905.
MalaCardsiTTC37.
MIMi222470. phenotype.
614589. gene.
neXtProtiNX_Q6PGP7.
Orphaneti84064. Syndromic diarrhea.
PharmGKBiPA162407226.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1127. Eukaryota.
ENOG410ZG1H. LUCA.
GeneTreeiENSGT00390000016407.
HOGENOMiHOG000154707.
HOVERGENiHBG090717.
InParanoidiQ6PGP7.
KOiK12600.
OMAiAACHTEN.
OrthoDBiEOG7JHM4S.
PhylomeDBiQ6PGP7.
TreeFamiTF323569.

Miscellaneous databases

ChiTaRSiTTC37. human.
GenomeRNAii9652.
NextBioi36233.
PROiQ6PGP7.
SOURCEiSearch...

Gene expression databases

BgeeiQ6PGP7.
CleanExiHS_TTC37.
ExpressionAtlasiQ6PGP7. baseline and differential.
GenevisibleiQ6PGP7. HS.

Family and domain databases

Gene3Di1.25.40.10. 8 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF13181. TPR_8. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 14 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 6 hits.
PROSITEiPS50005. TPR. 12 hits.
PS50293. TPR_REGION. 5 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. Ohara O., Nagase T., Kikuno R., Nomura N.
    Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung carcinoma and Melanoma.
  4. "The human PAF complex coordinates transcription with events downstream of RNA synthesis."
    Zhu B., Mandal S.S., Pham A.D., Zheng Y., Erdjument-Bromage H., Batra S.K., Tempst P., Reinberg D.
    Genes Dev. 19:1668-1673(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH PAF1, IDENTIFICATION IN THE SKI COMPLEX.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: TISSUE SPECIFICITY, VARIANTS 860-ASN--GLU-878 DEL; ASP-1077; ALA-1270 AND ARG-1485, ASSOCIATION WITH THES1.
  7. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  9. Cited for: VARIANTS THES1 ARG-251; ASN-1283 AND SER-1505.

Entry informationi

Entry nameiTTC37_HUMAN
AccessioniPrimary (citable) accession number: Q6PGP7
Secondary accession number(s): O15077, Q6PJI3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: July 5, 2004
Last modified: May 11, 2016
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.