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    SMIM10L1 small integral membrane protein 10 like 1 [ Homo sapiens (human) ]

    Gene ID: 100129361, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SMIM10L1provided by HGNC
    Official Full Name
    small integral membrane protein 10 like 1provided by HGNC
    Primary source
    HGNC:HGNC:49847
    See related
    Ensembl:ENSG00000256537 AllianceGenome:HGNC:49847
    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
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    mouse all
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    Genomic context

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    See SMIM10L1 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (11171194..11176016)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (11040401..11045222)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (11323793..11328615)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene PRH1-PRR4 readthrough Neighboring gene proline rich protein HaeIII subfamily 1 Neighboring gene PRH1-TAS2R14 readthrough Neighboring gene taste 2 receptor member 30 Neighboring gene taste 2 receptor member 18 pseudogene Neighboring gene taste 2 receptor member 67 pseudogene Neighboring gene taste 2 receptor member 42

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Small integral membrane protein 10 like 1 downregulation enhances differentiation of adipose progenitor cells. Nebe M, et al. Biochem Biophys Res Commun, 2022 May 14. PMID 35290761
    2. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
    3. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Small integral membrane protein 10 like 1 downregulation enhances differentiation of adipose progenitor cells.
      Title: Small integral membrane protein 10 like 1 downregulation enhances differentiation of adipose progenitor cells.
    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)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    small integral membrane protein 10-like protein 1
    Names
    Small integral membrane protein 10-like protein 1
    chromosome X open reading frame 69-like

    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.

    mRNA and Protein(s)

    1. NM_001271592.2 → NP_001258521.1  small integral membrane protein 10-like protein 1

      See identical proteins and their annotated locations for NP_001258521.1

      Status: VALIDATED

      Source sequence(s)
      AC134349
      Consensus CDS
      CCDS81667.1
      UniProtKB/Swiss-Prot
      A0A0G2JPJ8, P0DMW3
      Related
      ENSP00000488907.1, ENST00000622602.2
      Conserved Domains (1) summary
      pfam15118
      Location:12 → 68
      DUF4560; Domain of unknown function (DUF4560)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      11171194..11176016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571050.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      401848..406670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187658.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      366134..370955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      11040401..11045222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_032701.1: Suppressed sequence

      Description
      NG_032701.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.

    2. NR_036583.1: Suppressed sequence

      Description
      NR_036583.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DMW3.2 GenPept UniProtKB/Swiss-Prot:P0DMW3

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials