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TSPAN31 tetraspanin 31 [ Homo sapiens (human) ]

Gene ID: 6302, updated on 2-Nov-2024

Summary

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Official Symbol
TSPAN31provided by HGNC
Official Full Name
tetraspanin 31provided by HGNC
Primary source
HGNC:HGNC:10539
See related
Ensembl:ENSG00000135452 MIM:181035; AllianceGenome:HGNC:10539
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
SAS
Summary
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 18.9), adrenal (RPKM 13.0) and 25 other tissues See more
Orthologs
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Genomic context

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See TSPAN31 in Genome Data Viewer
Location:
12q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57745039..57750219)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57713393..57718569)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58138822..58144002)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:58087544-58088118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6550 Neighboring gene OS9 endoplasmic reticulum lectin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58120605-58121240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58121241-58121874 Neighboring gene AGAP2 antisense RNA 1 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:58127413-58128612 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:58131678-58131897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58145719-58146452 Neighboring gene microRNA 6759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4592 Neighboring gene cyclin dependent kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6556 Neighboring gene membrane associated ring-CH-type finger 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:58158104-58158882 Neighboring gene cytochrome P450 family 27 subfamily B member 1

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 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. Identification and cloning of a novel amplified DNA sequence in human malignant fibrous histiocytoma derived from a region of chromosome 12 frequently rearranged in soft tissue tumors. Meltzer PS, et al. Cell Growth Differ, 1991 Oct. PMID 1661131
  2. The ins and outs of the transmembrane 4 superfamily. Wright MD, et al. Immunol Today, 1994 Dec. PMID 7531445
  3. Genomic structure of SAS, a member of the transmembrane 4 superfamily amplified in human sarcomas. Jankowski SA, et al. Genomics, 1995 Jan 20. PMID 7789984
  4. SAS, a gene amplified in human sarcomas, encodes a new member of the transmembrane 4 superfamily of proteins. Jankowski SA, et al. Oncogene, 1994 Apr. PMID 8134123
  5. Co-amplification and overexpression of CDK4, SAS and MDM2 occurs frequently in human parosteal osteosarcomas. Wunder JS, et al. Oncogene, 1999 Jan 21. PMID 9989829

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Overexpression of Tetraspanin31 contributes to malignant potential and poor outcomes in gastric cancer.
    Title: Overexpression of Tetraspanin31 contributes to malignant potential and poor outcomes in gastric cancer.
  2. TSPAN31 suppresses cell proliferation in human cervical cancer through down-regulation of its antisense pairing with CDK4.
    Title: TSPAN31 suppresses cell proliferation in human cervical cancer through down-regulation of its antisense pairing with CDK4.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
  5. CDK4, MDM2, SAS and GLI genes are amplified in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma
    Title: Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Homology

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 positive regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
tetraspanin-31
Names
sarcoma-amplified sequence
transmembrane 4 protein
tspan-31

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.

mRNA and Protein(s)

  1. NM_001330168.2 → NP_001317097.1  tetraspanin-31 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two consecutive exons in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini as isoform 1
    Source sequence(s)
    AC025165, CN479167, DC392401, U01160
    Consensus CDS
    CCDS86313.1
    UniProtKB/TrEMBL
    F8VWE0
    Related
    ENSP00000449199.1, ENST00000547472.5

  2. NM_001330169.2 → NP_001317098.1  tetraspanin-31 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in its 5' terminal exon compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC025165, AK294128, CN479167, DC392401, U01160
    UniProtKB/TrEMBL
    B4DFJ7
    Conserved Domains (1) summary
    pfam00335
    Location:2 → 118
    Tetraspannin; Tetraspanin family

  3. NM_005981.5 → NP_005972.1  tetraspanin-31 isoform 1

    See identical proteins and their annotated locations for NP_005972.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC025165, CN479167, DC392401, U01160
    Consensus CDS
    CCDS8952.1
    UniProtKB/Swiss-Prot
    O00577, Q12999, Q53X76
    Related
    ENSP00000257910.3, ENST00000257910.8
    Conserved Domains (1) summary
    pfam00335
    Location:9 → 196
    Tetraspannin; Tetraspanin family

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57745039..57750219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449123.2 → XP_024304891.1  tetraspanin-31 isoform X1

    UniProtKB/TrEMBL
    B4DFJ7
    Conserved Domains (1) summary
    pfam00335
    Location:2 → 118
    Tetraspannin; Tetraspanin family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57713393..57718569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372857.1 → XP_054228832.1  tetraspanin-31 isoform X1

    UniProtKB/TrEMBL
    B4DFJ7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12999.1 GenPept UniProtKB/Swiss-Prot:Q12999

Gene LinkOut

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