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

    Gene ID: 340596, updated on 27-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (112630648..112679938, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (111081595..111130884, complement)
    RS_2024_09 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)

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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