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LHFPL4 LHFPL tetraspan subfamily member 4 [ Homo sapiens (human) ]

Gene ID: 375323, updated on 23-Nov-2021

Summary

Official Symbol
LHFPL4provided by HGNC
Official Full Name
LHFPL tetraspan subfamily member 4provided by HGNC
Primary source
HGNC:HGNC:29568
See related
Ensembl:ENSG00000156959 MIM:610240
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
GARLH4
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 one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 3.9) and adrenal (RPKM 0.5) See more
Orthologs
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Genomic context

See LHFPL4 in Genome Data Viewer
Location:
3p25.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (9498361..9553822, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9540045..9595506, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene THUMP domain containing 3 Neighboring gene THUMPD3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 11896 Neighboring gene SET domain containing 5 Neighboring gene Sharpr-MPRA regulatory region 15302 Neighboring gene uncharacterized LOC105376949 Neighboring gene dual specificity phosphatase 5 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133162

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GABA receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in gamma-aminobutyric acid receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in gamma-aminobutyric acid receptor clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of inhibitory synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
is_active_in inhibitory synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in inhibitory synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
LHFPL tetraspan subfamily member 4 protein
Names
GABAA receptor regulatory Lhfpl4
LHFP-like protein 4
lipoma HMGIC fusion partner-like 4 protein

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_198560.3NP_940962.1  LHFPL tetraspan subfamily member 4 protein

    See identical proteins and their annotated locations for NP_940962.1

    Status: REVIEWED

    Source sequence(s)
    AC018506, AC026194, AY278320, BC029607
    Consensus CDS
    CCDS33691.1
    UniProtKB/Swiss-Prot
    Q7Z7J7
    Related
    ENSP00000287585.6, ENST00000287585.8
    Conserved Domains (1) summary
    pfam10242
    Location:22200
    L_HGMIC_fpl; Lipoma HMGIC fusion partner-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    9498361..9553822 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006359.1XP_016861848.1  LHFPL tetraspan subfamily member 4 protein isoform X1

    UniProtKB/Swiss-Prot
    Q7Z7J7
    Conserved Domains (1) summary
    pfam10242
    Location:22200
    L_HGMIC_fpl; Lipoma HMGIC fusion partner-like protein
  2. XM_017006360.1XP_016861849.1  LHFPL tetraspan subfamily member 4 protein isoform X2

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