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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
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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