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Protein

Tetratricopeptide repeat protein 37

Gene

TTC37

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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).

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-429958 mRNA decay by 3' to 5' exoribonuclease

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

EuPathDBiHostDB:ENSG00000198677.10
HGNCiHGNC:23639 TTC37
MIMi614589 gene
neXtProtiNX_Q6PGP7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_067957251G → R in THES1. 1 PublicationCorresponds to variant dbSNP:rs763816083Ensembl.1
Natural variantiVAR_0679581283D → N in THES1. 1 Publication1
Natural variantiVAR_0679591505L → S in THES1. 1 PublicationCorresponds to variant dbSNP:rs376720108Ensembl.1

Organism-specific databases

DisGeNETi9652
MalaCardsiTTC37
MIMi222470 phenotype
OpenTargetsiENSG00000198677
Orphaneti84064 Syndromic diarrhea
PharmGKBiPA162407226

Polymorphism and mutation databases

BioMutaiTTC37
DMDMi74758339

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002517222 – 1564Tetratricopeptide repeat protein 37Add BLAST1563

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ6PGP7
MaxQBiQ6PGP7
PaxDbiQ6PGP7
PeptideAtlasiQ6PGP7
PRIDEiQ6PGP7

PTM databases

iPTMnetiQ6PGP7
PhosphoSitePlusiQ6PGP7

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

BgeeiENSG00000198677
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, 31 interactors
CORUMiQ6PGP7
IntActiQ6PGP7, 17 interactors
MINTiQ6PGP7
STRINGi9606.ENSP00000351596

Structurei

3D structure databases

ProteinModelPortaliQ6PGP7
SMRiQ6PGP7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati6 – 39TPR 1Add BLAST34
Repeati40 – 73TPR 2Add BLAST34
Repeati272 – 305TPR 3Add BLAST34
Repeati307 – 339TPR 4Add BLAST33
Repeati386 – 419TPR 5Add BLAST34
Repeati420 – 453TPR 6Add BLAST34
Repeati455 – 492TPR 7Add BLAST38
Repeati493 – 527TPR 8Add BLAST35
Repeati564 – 597TPR 9Add BLAST34
Repeati598 – 631TPR 10Add BLAST34
Repeati633 – 665TPR 11Add BLAST33
Repeati679 – 713TPR 12Add BLAST35
Repeati790 – 824TPR 13Add BLAST35
Repeati826 – 860TPR 14Add BLAST35
Repeati861 – 894TPR 15Add BLAST34
Repeati980 – 1013TPR 16Add BLAST34
Repeati1020 – 1054TPR 17Add BLAST35
Repeati1056 – 1084TPR 18Add BLAST29
Repeati1326 – 1359TPR 19Add BLAST34
Repeati1400 – 1433TPR 20Add BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1127 Eukaryota
ENOG410ZG1H LUCA
GeneTreeiENSGT00390000016407
HOGENOMiHOG000154707
HOVERGENiHBG090717
InParanoidiQ6PGP7
KOiK12600
OMAiAWTNLGT
OrthoDBiEOG091G02BO
PhylomeDBiQ6PGP7
TreeFamiTF323569

Family and domain databases

Gene3Di1.25.40.10, 5 hits
InterProiView protein in InterPro
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13181 TPR_8, 3 hits
SMARTiView protein in SMART
SM00028 TPR, 14 hits
SUPFAMiSSF48452 SSF48452, 6 hits
PROSITEiView protein in PROSITE
PS50005 TPR, 12 hits
PS50293 TPR_REGION, 5 hits

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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067957251G → R in THES1. 1 PublicationCorresponds to variant dbSNP:rs763816083Ensembl.1
Natural variantiVAR_027705437L → V. Corresponds to variant dbSNP:rs17084873Ensembl.1
Natural variantiVAR_065297860 – 878Missing Found in a THES1 patient. 1 PublicationAdd BLAST19
Natural variantiVAR_0652981077A → D Found in a THES1 patient. 1 Publication1
Natural variantiVAR_0652991270P → A Found in a THES1 patient. 1 PublicationCorresponds to variant dbSNP:rs146627706EnsemblClinVar.1
Natural variantiVAR_0679581283D → N in THES1. 1 Publication1
Natural variantiVAR_0277061296R → S. Corresponds to variant dbSNP:rs2303650Ensembl.1
Natural variantiVAR_0653001485L → R Found in a THES1 patient. 1 Publication1
Natural variantiVAR_0679591505L → S in THES1. 1 PublicationCorresponds to variant dbSNP:rs376720108Ensembl.1

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

Similar proteinsi

Entry informationi

Entry nameiTTC37_HUMAN
AccessioniPrimary (citable) accession number: Q6PGP7
Secondary accession number(s): O15077, Q6PJI3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: July 5, 2004
Last modified: May 23, 2018
This is version 133 of the entry and version 1 of the sequence. See 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

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