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LHFPL5 LHFPL tetraspan subfamily member 5 [ Homo sapiens (human) ]

Gene ID: 222662, updated on 13-Feb-2019

Summary

Official Symbol
LHFPL5provided by HGNC
Official Full Name
LHFPL tetraspan subfamily member 5provided by HGNC
Primary source
HGNC:HGNC:21253
See related
Ensembl:ENSG00000197753 MIM:609427
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
TMHS; DFNB67; dJ510O8.8
Summary
This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See LHFPL5 in Genome Data Viewer
Location:
6p21.31
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (35805294..35824075)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35773071..35791852)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene colipase like 1 Neighboring gene colipase Neighboring gene SRSF protein kinase 1 Neighboring gene solute carrier family 26 member 8 Neighboring gene uncharacterized LOC105375035 Neighboring gene divergent-paired related homeobox pseudogene 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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC33835

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
LHFPL tetraspan subfamily member 5 protein
Names
LHFP-like protein 5
lipoma HMGIC fusion partner-like 5 protein
tetraspan membrane protein of hair cell stereocilia

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.

Genomic

  1. NG_012184.2 RefSeqGene

    Range
    5059..23777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_182548.4NP_872354.1  LHFPL tetraspan subfamily member 5 protein

    See identical proteins and their annotated locations for NP_872354.1

    Status: REVIEWED

    Source sequence(s)
    AK126841, AL157823, BC028630
    Consensus CDS
    CCDS4812.1
    UniProtKB/Swiss-Prot
    Q8TAF8
    Related
    ENSP00000353346.1, ENST00000360215.2
    Conserved Domains (1) summary
    pfam10242
    Location:25202
    L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    35805294..35824075
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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