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

Summary

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: mouse all
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Genomic context

Location:: 5q15

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (95463894..95554977, complement)
RS_2023_10	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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanding the clinical spectrum in trichohepatoenteric syndrome.
Title: Expanding the clinical spectrum in trichohepatoenteric syndrome.
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.
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.
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.
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.
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.
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.
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Title: Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

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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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH119544 (e-PCR)
- UniSTS:132627

RH35848 (e-PCR)
- UniSTS:80915

SHGC-56463 (e-PCR)
- UniSTS:4432

PMC186649P1 (e-PCR)
- UniSTS:271717

KIAA0372 (e-PCR)
- UniSTS:504943

D5S1943 (e-PCR)
- UniSTS:85686

WI-11864 (e-PCR)
- UniSTS:63721

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	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay	IDA Inferred from Direct Assay 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
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: superkiller complex protein 3

Names: SKI complex component SKI3; SKI3 homolog; SKI3 subunit of superkiller complex protein; 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

NG_023414.1 RefSeqGene

Range

5001..96111

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_173

mRNA and Protein(s)

NM_014639.4 → NP_055454.1 superkiller complex protein 3

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

O15077, Q6PGP7, Q6PJI3

UniProtKB/TrEMBL

A0A8V8TLS3, A0A8V8TMB2

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