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    SMIM40 small integral membrane protein 40 [ Homo sapiens (human) ]

    Gene ID: 113523636, updated on 15-Mar-2024

    Summary

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    Official Symbol
    SMIM40provided by HGNC
    Official Full Name
    small integral membrane protein 40provided by HGNC
    Primary source
    HGNC:HGNC:54073
    See related
    Ensembl:ENSG00000286920 AllianceGenome:HGNC:54073
    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
    Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    mouse all
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    Genomic context

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    See SMIM40 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33323628..33329279, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33144990..33150641, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33291405..33297056, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33282409-33283068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33283069-33283726 Neighboring gene zinc finger and BTB domain containing 22 Neighboring gene uncharacterized LOC124901303 Neighboring gene death domain associated protein Neighboring gene MYL12B pseudogene 3 Neighboring gene MPRA-validated peak5757 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:33316599-33317100 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:33317101-33317600 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:33322798-33323394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33325184-33325780 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:33330150-33330334 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:33331653-33332152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33332216-33332916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33332917-33333615 Neighboring gene LYPLA2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    small integral membrane protein 40

    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_001369203.1 → NP_001356132.1  small integral membrane protein 40

      Status: VALIDATED

      Source sequence(s)
      AL662820, EL949692
      Consensus CDS
      CCDS93891.1
      UniProtKB/Swiss-Prot
      Q5STR5
      Related
      ENSP00000496397.1, ENST00000494082.3

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      33323628..33329279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      4735117..4740764 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      4567147..4572793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      4759562..4765212 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      4518058..4523708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      4777672..4777966 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      33144990..33150641 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5STR5.9 GenPept UniProtKB/Swiss-Prot:Q5STR5

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials