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

    Gene ID: 9652, updated on 10-Oct-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SKIC3 in Genome Data Viewer
    Location:
    5q15
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (95463894..95554977, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (95964834..96055916, complement)
    RS_2024_09 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 uncharacterized LOC105379089 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 ATAC-STARR-seq lymphoblastoid silent region 16182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16183 Neighboring gene Sharpr-MPRA regulatory region 2204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:94957159-94957658 Neighboring gene G protein-coupled receptor 150

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0372, MGC32587

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    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
     
    located_in 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

    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)

    NEW Try the new Transcript table

    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  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: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: GCF_000001405.40-RS_2024_08

    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_047417937.1XP_047273893.1  superkiller complex protein 3 isoform X1

      UniProtKB/Swiss-Prot
      O15077, Q6PGP7, Q6PJI3
    2. XM_047417938.1XP_047273894.1  superkiller complex protein 3 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_054353898.1XP_054209873.1  superkiller complex protein 3 isoform X2