Format

Send to:

Choose Destination

LHFPL3 LHFPL tetraspan subfamily member 3 [ Homo sapiens (human) ]

Gene ID: 375612, updated on 25-Aug-2020

Summary

Official Symbol
LHFPL3provided by HGNC
Official Full Name
LHFPL tetraspan subfamily member 3provided by HGNC
Primary source
HGNC:HGNC:6589
See related
Ensembl:ENSG00000187416 MIM:609719
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
LHFPL4
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. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 18.4) and lung (RPKM 1.0) See more
Orthologs

Genomic context

See LHFPL3 in Genome Data Viewer
Location:
7q22.2-q22.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (104328603..104908561)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (103969104..104549005)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr7.3907 Neighboring gene origin recognition complex subunit 5 Neighboring gene uncharacterized LOC105375436 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 6 Neighboring gene LHFPL3 antisense RNA 1 Neighboring gene LHFPL3 antisense RNA 2 Neighboring gene Sharpr-MPRA regulatory region 8680 Neighboring gene RNA, 7SL, cytoplasmic 8, pseudogene Neighboring gene lysine methyltransferase 2E (inactive)

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

Associated conditions

Description Tests
A genome-wide association study on obesity and obesity-related traits.
GeneReviews: Not available
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
GeneReviews: Not available
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
LHFPL tetraspan subfamily member 3 protein
Names
LHFP-like protein 3
lipoma HMGIC fusion partner-like 3 protein
lipoma HMGIC fusion partner-like 4

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_001386065.1NP_001372994.1  LHFPL tetraspan subfamily member 3 protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC002432, AC007384, AC079796, AC091286
    Related
    ENSP00000385374.2, ENST00000401970.2
  2. NM_199000.3NP_945351.1  LHFPL tetraspan subfamily member 3 protein

    See identical proteins and their annotated locations for NP_945351.1

    Status: REVIEWED

    Source sequence(s)
    AC002432, AC007384, AC079796
    UniProtKB/Swiss-Prot
    Q86UP9
    Related
    ENSP00000393128.1, ENST00000424859.6
    Conserved Domains (1) summary
    pfam10242
    Location:36213
    L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    104328603..104908561
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center