Display Settings:

Format

Send to:

Choose Destination

LHFPL5 lipoma HMGIC fusion partner-like 5 [ Homo sapiens (human) ]

Gene ID: 222662, updated on 29-Jul-2014
Official Symbol
LHFPL5provided by HGNC
Official Full Name
lipoma HMGIC fusion partner-like 5provided by HGNC
Primary source
HGNC:21253
See related
Ensembl:ENSG00000197753; HPRD:13989; 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]
See LHFPL5 in Epigenomics, MapViewer
Location:
6p21.31
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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, pancreatic Neighboring gene uncharacterized LOC102723620 Neighboring gene SRSF protein kinase 1 Neighboring gene solute carrier family 26 (anion exchanger), member 8 Neighboring gene divergent-paired related homeobox pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Homology

Clone Names

  • MGC33835

Gene Ontology Provided by GOA

Process Evidence Code Pubs
auditory receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
detection of mechanical stimulus involved in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
stereocilium bundle tip IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
tetraspan membrane protein of hair cell stereocilia
Names
tetraspan membrane protein of hair cell stereocilia
LHFP-like protein 5
lipoma HMGIC fusion partner-like 5 protein

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_012184.1 

    Range
    5001..23782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_182548.3NP_872354.1  tetraspan membrane protein of hair cell stereocilia

    See proteins identical to NP_872354.1

    Status: REVIEWED

    Source sequence(s)
    AK126841, AL157823, BC028630
    Consensus CDS
    CCDS4812.1
    UniProtKB/Swiss-Prot
    Q8TAF8
    Related
    ENSP00000353346, ENST00000360215
    Conserved Domains (1) summary
    pfam10242
    Location:25202
    Blast Score: 602
    L_HGMIC_fpl; Lipoma HMGIC fusion partner-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

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

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    35491242..35509995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    35774824..35793580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)