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    SMIM47 small integral membrane protein 47 [ Homo sapiens (human) ]

    Gene ID: 105372440, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SMIM47provided by HGNC
    Official Full Name
    small integral membrane protein 47provided by HGNC
    Primary source
    HGNC:HGNC:53452
    See related
    Ensembl:ENSG00000261341 AllianceGenome:HGNC:53452
    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 membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 6.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See SMIM47 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50785728..50786160, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53875222..53875654, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51288985..51289417, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene GPR32 pseudogene 1 Neighboring gene G protein-coupled receptor 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51280870-51281694 Neighboring gene origin of replication 20mer1 Neighboring gene Sharpr-MPRA regulatory region 1509 Neighboring gene uncharacterized LOC105372439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14997 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10978 Neighboring gene acid phosphatase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14998 Neighboring gene multidrug resistance-related protein Neighboring gene small nucleolar RNA, C/D box 88B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    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 47
    Names
    CTD-2568A17.1

    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_001384597.1 → NP_001371526.1  small integral membrane protein 47

      Status: VALIDATED

      Source sequence(s)
      AC010325
      Consensus CDS
      CCDS92672.1
      UniProtKB/Swiss-Prot
      D0EPY3
      Related
      ENSP00000489871.1, ENST00000562076.2

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      50785728..50786160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53875222..53875654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_134883.1: Suppressed sequence

      Description
      NR_134883.1: This RefSeq was removed because it is now thought that this gene does encode a protein.

    2. NR_134884.1: Suppressed sequence

      Description
      NR_134884.1: This RefSeq was removed 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
    D0EPY3.1 GenPept UniProtKB/Swiss-Prot:D0EPY3

    Gene LinkOut

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