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

Gene ID: 340596, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:6587
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
mouse all
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Genomic context

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See LHFPL1 in Genome Data Viewer
Location:
Xq23
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (112630648..112679938, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (111081595..111130884, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (111873876..111923166, 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 CCDC121 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:111744986-111745583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:111745584-111746180 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:111778361-111778872 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:111778873-111779384 and GRCh37_chrX:111779385-111779896 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:111779897-111780408 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:111857764-111858429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29863 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:111911869-111912514 Neighboring gene high mobility group box 3 pseudogene 30 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:111981774-111982356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:112022621-112023121 Neighboring gene microRNA 4329 Neighboring gene angiomotin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Isolation, tissue distribution and prokaryotic expression of a novel human X-linked gene LHFPL1. Huang C, et al. DNA Seq, 2004 Aug. PMID 15620218
  2. LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes. Petit MM, et al. Genomics, 1999 May 1. PMID 10329012
  3. A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. Longo-Guess CM, et al. Proc Natl Acad Sci U S A, 2005 May 31. PMID 15905332, Free PMC Article
  4. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expressed widely in ER of all tissues, especially highly in lung, thymus, skeleton muscle, colon and ovary.
    Title: Isolation, tissue distribution and prokaryotic expression of a novel human X-linked gene LHFPL1.
  2. The authors present an overview of the LHFP gene family in mouse and humans
    Title: A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC118798, MGC118800, MGC118801

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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)

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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.

Genomic

  1. NG_012629.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_178175.4 → NP_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
    A8K1N1, Q496M9, Q496N0, Q6UXU2, Q86WI0
    Related
    ENSP00000361036.3, ENST00000371968.8
    Conserved Domains (1) summary
    pfam10242
    Location:8 → 192
    L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    112630648..112679938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530946.3 → XP_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:8 → 159
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

  2. XM_047442082.1 → XP_047298038.1  LHFPL tetraspan subfamily member 1 protein isoform X2

  3. XM_011530943.3 → XP_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:31 → 215
    L_HGMIC_fpl; Lipoma HMGIC fusion partner-like protein

  4. XM_017029485.2 → XP_016884974.1  LHFPL tetraspan subfamily member 1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q86WI0
    Conserved Domains (1) summary
    pfam10242
    Location:31 → 215
    L_HGMIC_fpl; Lipoma HMGIC fusion partner-like protein

  5. XM_024452370.2 → XP_024308138.1  LHFPL tetraspan subfamily member 1 protein isoform X3

    Conserved Domains (1) summary
    cl21598
    Location:31 → 183
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    111081595..111130884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326994.1 → XP_054182969.1  LHFPL tetraspan subfamily member 1 protein isoform X4

  2. XM_054326992.1 → XP_054182967.1  LHFPL tetraspan subfamily member 1 protein isoform X2

  3. XM_054326990.1 → XP_054182965.1  LHFPL tetraspan subfamily member 1 protein isoform X1

  4. XM_054326991.1 → XP_054182966.1  LHFPL tetraspan subfamily member 1 protein isoform X1

  5. XM_054326993.1 → XP_054182968.1  LHFPL tetraspan subfamily member 1 protein isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86WI0.1 GenPept UniProtKB/Swiss-Prot:Q86WI0

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