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TM4SF5 transmembrane 4 L six family member 5 [ Homo sapiens (human) ]

Gene ID: 9032, updated on 21-Dec-2019

Summary

Official Symbol
TM4SF5provided by HGNC
Official Full Name
transmembrane 4 L six family member 5provided by HGNC
Primary source
HGNC:HGNC:11857
See related
Ensembl:ENSG00000142484 MIM:604657
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
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 a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]
Expression
Biased expression in duodenum (RPKM 71.1), small intestine (RPKM 65.8) and 4 other tissues See more
Orthologs

Genomic context

See TM4SF5 in Genome Data Viewer
Location:
17p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (4771886..4783211)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4675187..4686506)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 11 Neighboring gene C-X-C motif chemokine ligand 16 Neighboring gene zinc finger MYND-type containing 15 Neighboring gene vitelline membrane outer layer 1 homolog Neighboring gene glycolipid transfer protein domain containing 2

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arginine binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transmembrane 4 L6 family member 5
Names
tetraspan transmembrane protein L6H
transmembrane 4 superfamily member 5

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.

mRNA and Protein(s)

  1. NM_003963.3NP_003954.2  transmembrane 4 L6 family member 5 precursor

    See identical proteins and their annotated locations for NP_003954.2

    Status: REVIEWED

    Source sequence(s)
    AC091153, AC233723
    Consensus CDS
    CCDS11054.1
    UniProtKB/Swiss-Prot
    O14894
    Related
    ENSP00000270560.3, ENST00000270560.4
    Conserved Domains (1) summary
    pfam05805
    Location:1190
    L6_membrane; L6 membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    4771886..4783211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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