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Q6PGP7 (TTC37_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:TTC37
Synonyms:KIAA0372
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1564 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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 structure

Component of the SKI complex which consists of WDR61, SKIV2L and TTC37. Interacts with PAF1. Ref.4

Subcellular location

Cytoplasm. Nucleus Ref.4.

Tissue specificity

Widely expressed with the highest levels observed in vascular tissues, lymph node, pituitary, lung and intestine. Not expressed in the liver. Ref.6

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.8

Sequence similarities

Contains 20 TPR repeats.

Sequence caution

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

Ontologies

Keywords
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityPolymorphism
   DomainRepeat
TPR repeat
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentSki complex

Inferred from direct assay Ref.4. Source: UniProtKB

cytoplasm

Inferred from direct assay Ref.4. Source: UniProtKB

nucleus

Inferred from direct assay Ref.4. Source: UniProtKB

transcriptionally active chromatin

Inferred from direct assay Ref.4. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PAF1Q8N7H52EBI-6083436,EBI-2607770

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.7
Chain2 – 15641563Tetratricopeptide repeat protein 37
PRO_0000251722

Regions

Repeat6 – 3934TPR 1
Repeat40 – 7334TPR 2
Repeat272 – 30534TPR 3
Repeat307 – 33933TPR 4
Repeat386 – 41934TPR 5
Repeat420 – 45334TPR 6
Repeat455 – 49238TPR 7
Repeat493 – 52735TPR 8
Repeat564 – 59734TPR 9
Repeat598 – 63134TPR 10
Repeat633 – 66533TPR 11
Repeat679 – 71335TPR 12
Repeat790 – 82435TPR 13
Repeat826 – 86035TPR 14
Repeat861 – 89434TPR 15
Repeat980 – 101334TPR 16
Repeat1020 – 105435TPR 17
Repeat1056 – 108429TPR 18
Repeat1326 – 135934TPR 19
Repeat1400 – 143334TPR 20

Amino acid modifications

Modified residue21N-acetylserine Ref.7

Natural variations

Natural variant2511G → R in THES1. Ref.8
VAR_067957
Natural variant4371L → V.
Corresponds to variant rs17084873 [ dbSNP | Ensembl ].
VAR_027705
Natural variant860 – 87819Missing Found in a THES1 patient.
VAR_065297
Natural variant10771A → D Found in a THES1 patient. Ref.6
VAR_065298
Natural variant12701P → A Found in a THES1 patient. Ref.6
VAR_065299
Natural variant12831D → N in THES1. Ref.8
VAR_067958
Natural variant12961R → S.
Corresponds to variant rs2303650 [ dbSNP | Ensembl ].
VAR_027706
Natural variant14851L → R Found in a THES1 patient. Ref.6
VAR_065300
Natural variant15051L → S in THES1. Ref.8
VAR_067959

Sequences

Sequence LengthMass (Da)Tools
Q6PGP7 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 12D6B45B4A6F367A

FASTA1,564175,486
        10         20         30         40         50         60 
MSSKEVKTAL KSARDAIRNK EYKEALKHCK TVLKQEKNNY NAWVFIGVAA AELEQPDQAQ 

        70         80         90        100        110        120 
SAYKKAAELE PDQLLAWQGL ANLYEKYNHI NAKDDLPGVY QKLLDLYESV DKQKWCDVCK 

       130        140        150        160        170        180 
KLVDLYYQEK KHLEVARTWH KLIKTRQEQG AENEELHQLW RKLTQFLAES TEDQNNETQQ 

       190        200        210        220        230        240 
LLFTAFENAL GLSDKIPSED HQVLYRHFIQ SLSKFPHESA RLKKACEGMI NIYPTVQYPL 

       250        260        270        280        290        300 
EVLCLHLIES GNLTDEGQQY CCRLVEMDSK SGPGLIGLGI KALQDKKYED AVRNLTEGLK 

       310        320        330        340        350        360 
ESPVCTSGWY HLAEAQVKMH RPKEAVLSCS QALKIVDNLG ASGNSLYQRN LCLHLKAEAL 

       370        380        390        400        410        420 
IKLSDYDSSE EAIRTLDQIS DADNIPGLLV LKSLAYRNKG SFDEAAKIME DLLSSYPDLA 

       430        440        450        460        470        480 
EVHALEALIH FTKKDYLQAE KCFQRALEKD TEVAEYHYQL GLTYWFMGEE TRKDKTKALT 

       490        500        510        520        530        540 
HFLKAARLDT YMGKVFCYLG HYYRDVVGDK NRARGCYRKA FELDDTDAES GAAAVDLSVE 

       550        560        570        580        590        600 
LEDMEMALAI LTTVTQKASA GTAKWAWLRR GLYYLKAGQH SQAVADLQAA LRADPKDFNC 

       610        620        630        640        650        660 
WESLGEAYLS RGGYTTALKS FTKASELNPE SIYSVFKVAA IQQILGKYKE AVAQYQMIIK 

       670        680        690        700        710        720 
KKEDYVPALK GLGECHLMMA KAALVDYLDG KAVDYIEKAL EYFTCALQHR ADVSCLWKLA 

       730        740        750        760        770        780 
GDACTCLYAV APSKVNVHVL GVLLGQKEGK QVLKKNELLH LGGRCYGRAL KLMSTSNTWC 

       790        800        810        820        830        840 
DLGINYYRQA QHLAETGSNM NDLKELLEKS LHCLKKAVRL DSNNHLYWNA LGVVACYSGI 

       850        860        870        880        890        900 
GNYALAQHCF IKSIQSEQIN AVAWTNLGVL YLTNENIEQA HEAFKMAQSL DPSYLMCWIG 

       910        920        930        940        950        960 
QALIAEAVGS YDTMDLFRHT TELNMHTEGA LGYAYWVCTT LQDKSNRETE LYQYNILQMN 

       970        980        990       1000       1010       1020 
AIPAAQVILN KYVERIQNYA PAFTMLGYLN EHLQLKKEAA NAYQRAILLL QTAEDQDTYN 

      1030       1040       1050       1060       1070       1080 
VAIRNYGRLL CSTGEYDKAI QAFKSTPLEV LEDIIGFALA LFMKGLYKES SKAYERALSI 

      1090       1100       1110       1120       1130       1140 
VESEQDKAHI LTALAITEYK QGKTDVAKTL LFKCSILKEP TTESLQALCA LGLAMQDATL 

      1150       1160       1170       1180       1190       1200 
SKAALNELLK HIKHKDSNYQ RCLLTSAIYA LQGRSVAVQK QISKAVHSNP GDPALWSLLS 

      1210       1220       1230       1240       1250       1260 
RVVAQYAQRN AKGGVVAGNV AHILDSNHGK KALLYTAVNQ LAMGSSSAED EKNTALKTIQ 

      1270       1280       1290       1300       1310       1320 
KAALLSPGDP AIWAGLMAAC HADDKLALVN NTQPKRIDLY LALLSAVSAS IKDEKFFENY 

      1330       1340       1350       1360       1370       1380 
NQSLEKWSLS QAVTGLIDTG RISEAETLCT KNLKSNPDQP AVILLLRQVQ CKPLLESQKP 

      1390       1400       1410       1420       1430       1440 
LPDAVLEELQ KTVMSNSTSV PAWQWLAHVY QSQGMMRAAE MCYRKSLQLA SQRGSWSGKL 

      1450       1460       1470       1480       1490       1500 
SSLLRLALLA LKVCMANISN DHWPSLVQEA TTEALKLCFC PLAVLLQALL QFKRKMGARE 

      1510       1520       1530       1540       1550       1560 
TRRLLERVVY QPGYPKSIAS TARWYLLRHL YAKDDYELID VLVNNAKTHG DTRALELNQR 


LSSQ 

« Hide

References

« Hide 'large scale' references
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome."
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.
Hum. Mutat. 32:277-281(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, VARIANTS 860-ASN--GLU-878 DEL; ASP-1077; ALA-1270 AND ARG-1485, ASSOCIATION WITH THES1.
[7]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
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.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[8]"Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)."
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.
Gastroenterology 138:2388-2398(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS THES1 ARG-251; ASN-1283 AND SER-1505.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB002370 mRNA. Translation: BAA20827.2. Different initiation.
BC015163 mRNA. Translation: AAH15163.1.
BC056893 mRNA. Translation: AAH56893.1.
RefSeqNP_055454.1. NM_014639.3.
UniGeneHs.482868.

3D structure databases

ProteinModelPortalQ6PGP7.
SMRQ6PGP7. Positions 2-84, 278-325, 395-701, 809-925, 971-1129, 1389-1432.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115010. 8 interactions.
IntActQ6PGP7. 5 interactions.
MINTMINT-1194694.
STRING9606.ENSP00000351596.

PTM databases

PhosphoSiteQ6PGP7.

Polymorphism databases

DMDM74758339.

Proteomic databases

PaxDbQ6PGP7.
PeptideAtlasQ6PGP7.
PRIDEQ6PGP7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358746; ENSP00000351596; ENSG00000198677.
GeneID9652.
KEGGhsa:9652.
UCSCuc003klb.3. human.

Organism-specific databases

CTD9652.
GeneCardsGC05M094826.
HGNCHGNC:23639. TTC37.
HPAHPA037905.
MIM222470. phenotype.
614589. gene.
neXtProtNX_Q6PGP7.
Orphanet84064. Syndromic diarrhea.
PharmGKBPA162407226.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0457.
HOGENOMHOG000154707.
HOVERGENHBG090717.
InParanoidQ6PGP7.
KOK12600.
OMANTQPKRM.
OrthoDBEOG7JHM4S.
PhylomeDBQ6PGP7.
TreeFamTF323569.

Gene expression databases

ArrayExpressQ6PGP7.
BgeeQ6PGP7.
CleanExHS_TTC37.
GenevestigatorQ6PGP7.

Family and domain databases

Gene3D1.25.40.10. 8 hits.
InterProIPR006597. Sel1-like.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF00515. TPR_1. 2 hits.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTSM00671. SEL1. 2 hits.
SM00028. TPR. 14 hits.
[Graphical view]
PROSITEPS50005. TPR. 12 hits.
PS50293. TPR_REGION. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTTC37. human.
GenomeRNAi9652.
NextBio36233.
PROQ6PGP7.
SOURCESearch...

Entry information

Entry nameTTC37_HUMAN
AccessionPrimary (citable) accession number: Q6PGP7
Secondary accession number(s): O15077, Q6PJI3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM