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    LSMEM1 leucine rich single-pass membrane protein 1 [ Homo sapiens (human) ]

    Gene ID: 286006, updated on 26-Nov-2024

    Summary

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    Official Symbol
    LSMEM1provided by HGNC
    Official Full Name
    leucine rich single-pass membrane protein 1provided by HGNC
    Primary source
    HGNC:HGNC:22036
    See related
    Ensembl:ENSG00000181016 AllianceGenome:HGNC:22036
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C7orf53
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See LSMEM1 in Genome Data Viewer
    Location:
    7q31.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (112480304..112491062)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (113797449..113809353)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (112120908..112131117)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375457 Neighboring gene Sharpr-MPRA regulatory region 10411 Neighboring gene interferon related developmental regulator 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:112089605-112090422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:112090423-112091240 Neighboring gene uncharacterized LOC128031837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26513 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:112136767-112136980 Neighboring gene nucleophosmin 1 pseudogene 14 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:112181860-112182047 Neighboring gene long intergenic non-protein coding RNA 3076

    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. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
    2. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich single-pass membrane protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001134468.2 → NP_001127940.1  leucine-rich single-pass membrane protein 1

      See identical proteins and their annotated locations for NP_001127940.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.
      Source sequence(s)
      AA121517, AC005192, BC126149, DB456503
      Consensus CDS
      CCDS5756.1
      UniProtKB/Swiss-Prot
      Q49AR6, Q8N8F7
      Related
      ENSP00000389278.2, ENST00000439068.6
      Conserved Domains (1) summary
      pfam15145
      Location:1 → 131
      DUF4577; Domain of unknown function (DUF4577)

    2. NM_182597.3 → NP_872403.1  leucine-rich single-pass membrane protein 1

      See identical proteins and their annotated locations for NP_872403.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.
      Source sequence(s)
      AA121517, AC005192, BC126149, DA894907, DA898266
      Consensus CDS
      CCDS5756.1
      UniProtKB/Swiss-Prot
      Q49AR6, Q8N8F7
      Related
      ENSP00000323304.3, ENST00000312849.4
      Conserved Domains (1) summary
      pfam15145
      Location:1 → 131
      DUF4577; Domain of unknown function (DUF4577)

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      112480304..112491062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012028.3 → XP_016867517.1  leucine-rich single-pass membrane protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AR6, Q8N8F7
      Conserved Domains (1) summary
      pfam15145
      Location:1 → 131
      DUF4577; Domain of unknown function (DUF4577)

    2. XM_011516074.3 → XP_011514376.1  leucine-rich single-pass membrane protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011514376.1

      UniProtKB/Swiss-Prot
      Q49AR6, Q8N8F7
      Conserved Domains (1) summary
      pfam15145
      Location:1 → 131
      DUF4577; Domain of unknown function (DUF4577)

    3. XM_011516076.3 → XP_011514378.1  leucine-rich single-pass membrane protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011514378.1

      UniProtKB/Swiss-Prot
      Q49AR6, Q8N8F7
      Conserved Domains (1) summary
      pfam15145
      Location:1 → 131
      DUF4577; Domain of unknown function (DUF4577)

    4. XM_011516075.3 → XP_011514377.1  leucine-rich single-pass membrane protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011514377.1

      UniProtKB/Swiss-Prot
      Q49AR6, Q8N8F7
      Conserved Domains (1) summary
      pfam15145
      Location:1 → 131
      DUF4577; Domain of unknown function (DUF4577)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      113797449..113809353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357948.1 → XP_054213923.1  leucine-rich single-pass membrane protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AR6, Q8N8F7

    2. XM_054357950.1 → XP_054213925.1  leucine-rich single-pass membrane protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AR6, Q8N8F7

    3. XM_054357949.1 → XP_054213924.1  leucine-rich single-pass membrane protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AR6, Q8N8F7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8F7.1 GenPept UniProtKB/Swiss-Prot:Q8N8F7

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