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Entry version 150 (12 Aug 2020)
Sequence version 1 (05 Jul 2004)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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).

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6PGP7

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-429958, mRNA decay by 3' to 5' exoribonuclease

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TTC37
Synonyms:KIAA0372
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000198677.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23639, TTC37

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614589, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6PGP7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
9652

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TTC37

MalaCards human disease database

More...
MalaCardsi
TTC37
MIMi222470, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198677

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
84064, Syndromic diarrhea

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162407226

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6PGP7, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TTC37

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74758339

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002517222 – 1564Tetratricopeptide repeat protein 37Add BLAST1563

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6PGP7

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6PGP7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6PGP7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6PGP7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6PGP7

PeptideAtlas

More...
PeptideAtlasi
Q6PGP7

PRoteomics IDEntifications database

More...
PRIDEi
Q6PGP7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
67118

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6PGP7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6PGP7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198677, Expressed in kidney and 241 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6PGP7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6PGP7, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000198677, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the SKI complex which consists of WDR61, SKIV2L and TTC37.

Interacts with PAF1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
115010, 44 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q6PGP7

Protein interaction database and analysis system

More...
IntActi
Q6PGP7, 26 interactors

Molecular INTeraction database

More...
MINTi
Q6PGP7

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000351596

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6PGP7, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1127, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016407

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_003788_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6PGP7

KEGG Orthology (KO)

More...
KOi
K12600

Identification of Orthologs from Complete Genome Data

More...
OMAi
AYYNLGW

Database of Orthologous Groups

More...
OrthoDBi
347760at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6PGP7

TreeFam database of animal gene trees

More...
TreeFami
TF323569

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.10, 5 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039226, Ski3/TTC37
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat

The PANTHER Classification System

More...
PANTHERi
PTHR15704, PTHR15704, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13181, TPR_8, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00028, TPR, 14 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452, SSF48452, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50005, TPR, 12 hits
PS50293, TPR_REGION, 5 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i12D6B45B4A6F367A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RCE2D6RCE2_HUMAN
Tetratricopeptide repeat protein 37
TTC37
611Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RDA0D6RDA0_HUMAN
Tetratricopeptide repeat protein 37
TTC37
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y964H0Y964_HUMAN
Tetratricopeptide repeat protein 37
TTC37
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y915H0Y915_HUMAN
Tetratricopeptide repeat protein 37
TTC37
33Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA20827 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB002370 mRNA Translation: BAA20827.2 Different initiation.
BC015163 mRNA Translation: AAH15163.1
BC056893 mRNA Translation: AAH56893.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4072.1

NCBI Reference Sequences

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RefSeqi
NP_055454.1, NM_014639.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000358746; ENSP00000351596; ENSG00000198677
ENST00000649566; ENSP00000497948; ENSG00000198677

Database of genes from NCBI RefSeq genomes

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GeneIDi
9652

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9652

UCSC genome browser

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UCSCi
uc003klb.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi115010, 44 interactors
CORUMiQ6PGP7
IntActiQ6PGP7, 26 interactors
MINTiQ6PGP7
STRINGi9606.ENSP00000351596

PTM databases

iPTMnetiQ6PGP7
PhosphoSitePlusiQ6PGP7

Polymorphism and mutation databases

BioMutaiTTC37
DMDMi74758339

Proteomic databases

EPDiQ6PGP7
jPOSTiQ6PGP7
MassIVEiQ6PGP7
MaxQBiQ6PGP7
PaxDbiQ6PGP7
PeptideAtlasiQ6PGP7
PRIDEiQ6PGP7
ProteomicsDBi67118

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
48952, 22 antibodies

Genome annotation databases

EnsembliENST00000358746; ENSP00000351596; ENSG00000198677
ENST00000649566; ENSP00000497948; ENSG00000198677
GeneIDi9652
KEGGihsa:9652
UCSCiuc003klb.4, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9652
DisGeNETi9652
EuPathDBiHostDB:ENSG00000198677.10

GeneCards: human genes, protein and diseases

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GeneCardsi
TTC37
GeneReviewsiTTC37
HGNCiHGNC:23639, TTC37
HPAiENSG00000198677, Low tissue specificity
MalaCardsiTTC37
MIMi222470, phenotype
614589, gene
neXtProtiNX_Q6PGP7
OpenTargetsiENSG00000198677
Orphaneti84064, Syndromic diarrhea
PharmGKBiPA162407226

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1127, Eukaryota
GeneTreeiENSGT00390000016407
HOGENOMiCLU_003788_1_0_1
InParanoidiQ6PGP7
KOiK12600
OMAiAYYNLGW
OrthoDBi347760at2759
PhylomeDBiQ6PGP7
TreeFamiTF323569

Enzyme and pathway databases

PathwayCommonsiQ6PGP7
ReactomeiR-HSA-429958, mRNA decay by 3' to 5' exoribonuclease

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9652, 27 hits in 875 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TTC37, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9652
PharosiQ6PGP7, Tbio

Protein Ontology

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PROi
PR:Q6PGP7
RNActiQ6PGP7, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198677, Expressed in kidney and 241 other tissues
ExpressionAtlasiQ6PGP7, baseline and differential
GenevisibleiQ6PGP7, HS

Family and domain databases

Gene3Di1.25.40.10, 5 hits
InterProiView protein in InterPro
IPR039226, Ski3/TTC37
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat
PANTHERiPTHR15704, PTHR15704, 1 hit
PfamiView protein in Pfam
PF13181, TPR_8, 3 hits
SMARTiView protein in SMART
SM00028, TPR, 14 hits
SUPFAMiSSF48452, SSF48452, 5 hits
PROSITEiView protein in PROSITE
PS50005, TPR, 12 hits
PS50293, TPR_REGION, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTTC37_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6PGP7
Secondary accession number(s): O15077, Q6PJI3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: July 5, 2004
Last modified: August 12, 2020
This is version 150 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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