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LHFPL6 LHFPL tetraspan subfamily member 6 [ Homo sapiens (human) ]

Gene ID: 10186, updated on 1-Jun-2020

Summary

Official Symbol
LHFPL6provided by HGNC
Official Full Name
LHFPL tetraspan subfamily member 6provided by HGNC
Primary source
HGNC:HGNC:6586
See related
Ensembl:ENSG00000183722 MIM:606710
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
LHFP
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. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
Expression
Broad expression in fat (RPKM 71.3), placenta (RPKM 69.6) and 23 other tissues See more
Orthologs

Genomic context

See LHFPL6 in Genome Data Viewer
Location:
13q13.3-q14.11
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (39342892..39603193, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (39917029..40177356, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984579 Neighboring gene uncharacterized LOC107984580 Neighboring gene uncharacterized LOC105370170 Neighboring gene protein SPT2 homolog Neighboring gene microRNA 4305 Neighboring gene component of oligomeric golgi complex 6 Neighboring gene RNY4 pseudogene 14

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 of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
NHGRI GWA Catalog
Multiple loci influencing hippocampal degeneration identified by genome scan.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • MGC22429

Gene Ontology Provided by GOA

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 

General protein information

Preferred Names
LHFPL tetraspan subfamily member 6 protein
Names
lipoma HMGIC fusion partner
NP_005771.1
XP_011533163.1

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_005780.3NP_005771.1  LHFPL tetraspan subfamily member 6 protein precursor

    See identical proteins and their annotated locations for NP_005771.1

    Status: REVIEWED

    Source sequence(s)
    AL136358, AL138685, AL158194
    Consensus CDS
    CCDS9369.1
    UniProtKB/Swiss-Prot
    Q9Y693
    UniProtKB/TrEMBL
    A0A024RDR1
    Related
    ENSP00000368908.3, ENST00000379589.4
    Conserved Domains (1) summary
    pfam10242
    Location:8193
    L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    39342892..39603193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534861.1XP_011533163.1  LHFPL tetraspan subfamily member 6 protein isoform X1

    See identical proteins and their annotated locations for XP_011533163.1

    UniProtKB/Swiss-Prot
    Q9Y693
    UniProtKB/TrEMBL
    A0A024RDR1
    Conserved Domains (1) summary
    pfam10242
    Location:8193
    L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein
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