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LHFPL1 LHFPL tetraspan subfamily member 1 [ Homo sapiens (human) ]

Gene ID: 340596, updated on 12-Oct-2019

Summary

Official Symbol
LHFPL1provided by HGNC
Official Full Name
LHFPL tetraspan subfamily member 1provided by HGNC
Primary source
HGNC:HGNC:6587
See related
Ensembl:ENSG00000182508 MIM:300566
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
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. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See LHFPL1 in Genome Data Viewer
Location:
Xq23
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (112630648..112680178, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (111873879..111923375, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene retrotransposon Gag like 4 Neighboring gene divergent-paired related homeobox pseudogene 7 Neighboring gene coiled-coil domain containing 121 pseudogene Neighboring gene high mobility group box 3 pseudogene 30 Neighboring gene microRNA 4329 Neighboring gene angiomotin

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

General gene information

Markers

Homology

Clone Names

  • MGC118798, MGC118800, MGC118801

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
LHFPL tetraspan subfamily member 1 protein
Names
LHFP-like protein 1
lipoma HMGIC fusion partner like 1
lipoma HMGIC fusion partner-like 1 protein

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_012629.1 RefSeqGene

    Range
    5210..54500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_178175.4NP_835469.1  LHFPL tetraspan subfamily member 1 protein precursor

    See identical proteins and their annotated locations for NP_835469.1

    Status: REVIEWED

    Source sequence(s)
    AC000114, AY217350
    Consensus CDS
    CCDS14562.1
    UniProtKB/Swiss-Prot
    Q86WI0
    Related
    ENSP00000361036.3, ENST00000371968.8
    Conserved Domains (1) summary
    pfam10242
    Location:8192
    L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    112630648..112680178 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530943.2XP_011529245.1  LHFPL tetraspan subfamily member 1 protein isoform X1

    See identical proteins and their annotated locations for XP_011529245.1

    UniProtKB/Swiss-Prot
    Q86WI0
    Conserved Domains (1) summary
    pfam10242
    Location:31215
    L_HGMIC_fpl; Lipoma HMGIC fusion partner-like protein
  2. XM_017029485.1XP_016884974.1  LHFPL tetraspan subfamily member 1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q86WI0
    Conserved Domains (1) summary
    pfam10242
    Location:31215
    L_HGMIC_fpl; Lipoma HMGIC fusion partner-like protein
  3. XM_011530946.2XP_011529248.1  LHFPL tetraspan subfamily member 1 protein isoform X4

    See identical proteins and their annotated locations for XP_011529248.1

    UniProtKB/Swiss-Prot
    Q86WI0
    Conserved Domains (1) summary
    cl21598
    Location:8159
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  4. XM_011530944.2XP_011529246.1  LHFPL tetraspan subfamily member 1 protein isoform X2

    See identical proteins and their annotated locations for XP_011529246.1

    UniProtKB/Swiss-Prot
    Q86WI0
    Conserved Domains (1) summary
    pfam10242
    Location:8192
    L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein
  5. XM_024452370.1XP_024308138.1  LHFPL tetraspan subfamily member 1 protein isoform X3

    Conserved Domains (1) summary
    cl21598
    Location:31183
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
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