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SKIC3 SKI3 subunit of superkiller complex [ Homo sapiens (human) ]

Gene ID: 9652, updated on 5-Apr-2023

Summary

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Official Symbol
SKIC3provided by HGNC
Official Full Name
SKI3 subunit of superkiller complexprovided by HGNC
Primary source
HGNC:HGNC:23639
See related
Ensembl:ENSG00000198677 MIM:614589; AllianceGenome:HGNC:23639
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; TTC37; 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
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Genomic context

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See SKIC3 in Genome Data Viewer
Location:
5q15
Exon count:
43
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (95463894..95554977, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (95964834..96055916, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (94799598..94890681, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:94728230-94729087 Neighboring gene family with sequence similarity 81 member B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:94775487-94776419 Neighboring gene RTRAF pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:94821776-94822394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:94822395-94823011 Neighboring gene RNA, U6 small nuclear 308, pseudogene Neighboring gene arylsulfatase family member K Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:94926949-94928148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:94955347-94955962 Neighboring gene G protein-coupled receptor 150

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Expanding the clinical spectrum in trichohepatoenteric syndrome. Dorum S, et al. Am J Med Genet A, 2021 Oct. PMID 34037310
  2. A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families. Fabre A, et al. Am J Med Genet A, 2018 Mar. PMID 29383842
  3. Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency. Lee WI, et al. Medicine (Baltimore), 2016 Mar. PMID 26945392, Free PMC Article
  4. Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. Chong JH, et al. Eur J Pediatr, 2015 Oct. PMID 25976726
  5. Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Fabre A, et al. Hum Mutat, 2011 Mar. PMID 21120949

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expanding the clinical spectrum in trichohepatoenteric syndrome.
    Title: Expanding the clinical spectrum in trichohepatoenteric syndrome.
  2. We then examined the lab diagnostic cohort in detail for clinical manifestations. For the first time, we are able to suggest that patients lacking SKIV2L seem more severely affected than those lacking TTC37, in terms of liver damage and prenatal growth impairment.
    Title: Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
  3. we present seven patients from two families with a new mutation in TTC37. The phenotype is classic, but the disease course is milder, with better intra- and extrauterine growth, less need for parenteral nutrition, and better chance of survival.
    Title: A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
  4. Study reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations.
    Title: Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.
  5. A PubMed search for bi-allelic TTC37 mutations and phenotypes were recorded in 14 Asian and 12 non-Asian cases
    Title: Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.
  6. This is a report of novel mutations in TTC37 in individuals of East Asian descent. * Whole exome sequencing (WES) can be useful in certain complex cases with diagnostic dilemmas.
    Title: Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
  7. TTC37 is widely expressed, with high levels in vascular tissues, lymph node, pituitary, lung, and intestine. In contrast, TTC37 is not expressed in the liver, an organ that is not consistently affected in tricho-hepato-enteric syndrome
    Title: Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.
  8. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
    Title: Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Trichohepatoenteric syndrome 1
MedGen: C4551982 OMIM: 222470 GeneReviews: Trichohepatoenteric Syndrome
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0372, MGC32587

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in rescue of stalled ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of Ski complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
part_of Ski complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of euchromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
SKI3 subunit of superkiller complex protein
Names
SKI complex component SKI3
SKI3 homolog
TPR repeat protein 37
tetratricopeptide repeat domain 37
thespin
tricho-hepatic-enteric syndrome protein

NCBI Reference Sequences (RefSeq)

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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_014639.4 → NP_055454.1  SKI3 subunit of superkiller complex protein

    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, Q6PJI3
    Related
    ENSP00000351596.3, ENST00000358746.7
    Conserved Domains (6) summary
    TIGR02917
    Location:322 → 1272
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00008
    Location:530 → 555
    TPR_YbbN; TPR repeat [structural motif]
    sd00006
    Location:566 → 592
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:861 → 894
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:278 → 335
    TPR_11; TPR repeat
    pfam13432
    Location:10 → 72
    TPR_16; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    95463894..95554977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417937.1 → XP_047273893.1  SKI3 subunit of superkiller complex protein isoform X1

    UniProtKB/Swiss-Prot
    Q6PJI3

  2. XM_047417938.1 → XP_047273894.1  SKI3 subunit of superkiller complex protein isoform X2

    Related
    ENSP00000513751.1, ENST00000698484.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    95964834..96055916 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353898.1 → XP_054209873.1  SKI3 subunit of superkiller complex protein isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PGP7.1 GenPept UniProtKB/Swiss-Prot:Q6PGP7

Gene LinkOut

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