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TTC37 tetratricopeptide repeat domain 37 [ Homo sapiens (human) ]

Gene ID: 9652, updated on 10-Dec-2019

Summary

Official Symbol
TTC37provided by HGNC
Official Full Name
tetratricopeptide repeat domain 37provided by HGNC
Primary source
HGNC:HGNC:23639
See related
Ensembl:ENSG00000198677 MIM:614589
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Ski3; THES; KIAA0372
Summary
This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]
Expression
Ubiquitous expression in thyroid (RPKM 19.1), skin (RPKM 17.4) and 25 other tissues See more
Orthologs

Genomic context

See TTC37 in Genome Data Viewer
Location:
5q15
Exon count:
43
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (95463894..95554980, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (94799599..94890709, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379089 Neighboring gene family with sequence similarity 81 member B Neighboring gene RTRAF pseudogene 2 Neighboring gene RNA, U6 small nuclear 308, pseudogene Neighboring gene arylsulfatase family member K Neighboring gene G protein-coupled receptor 150

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Deadenylation-dependent mRNA decay, organism-specific biosystem (from REACTOME)
    Deadenylation-dependent mRNA decay, organism-specific biosystemAfter undergoing rounds of translation, mRNA is normally destroyed by the deadenylation-dependent pathway. Though the trigger is unclear, deadenylation likely proceeds in two steps: one catalyzed by...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • RNA degradation, organism-specific biosystem (from KEGG)
    RNA degradation, organism-specific biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • RNA degradation, conserved biosystem (from KEGG)
    RNA degradation, conserved biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • Ski complex, organism-specific biosystem (from KEGG)
    Ski complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
  • Ski complex, conserved biosystem (from KEGG)
    Ski complex, conserved biosystemStructural complex; Genetic information processing; RNA processing
  • mRNA decay by 3' to 5' exoribonuclease, organism-specific biosystem (from REACTOME)
    mRNA decay by 3' to 5' exoribonuclease, organism-specific biosystemThe degradation of mRNA from 3' to 5' occurs in two steps. First, the exosome exoribonuclease complex binds the 3' end of the oligoadenylated mRNA and hydrolyzes it from 3' to 5', yielding ribonucleo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0372, MGC32587

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Ski complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcriptionally active chromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tetratricopeptide repeat protein 37
Names
SKI3 homolog
TPR repeat protein 37
thespin
tricho-hepatic-enteric syndrome protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023414.1 RefSeqGene

    Range
    5001..96111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_173

mRNA and Protein(s)

  1. NM_014639.4NP_055454.1  tetratricopeptide repeat protein 37

    See identical proteins and their annotated locations for NP_055454.1

    Status: REVIEWED

    Source sequence(s)
    AB002370, BC015163
    Consensus CDS
    CCDS4072.1
    UniProtKB/Swiss-Prot
    Q6PGP7
    Related
    ENSP00000351596.2, ENST00000358746.6
    Conserved Domains (6) summary
    TIGR02917
    Location:3221272
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00008
    Location:530555
    TPR_YbbN; TPR repeat [structural motif]
    sd00006
    Location:566592
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:861894
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:278335
    TPR_11; TPR repeat
    pfam13432
    Location:1072
    TPR_16; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    95463894..95554980 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001742370.2 RNA Sequence

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