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    SMIM6 small integral membrane protein 6 [ Homo sapiens (human) ]

    Gene ID: 100130933, updated on 8-Mar-2024

    Summary

    Official Symbol
    SMIM6provided by HGNC
    Official Full Name
    small integral membrane protein 6provided by HGNC
    Primary source
    HGNC:HGNC:40032
    See related
    Ensembl:ENSG00000259120 MIM:620531; AllianceGenome:HGNC:40032
    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
    ELN; C17orf110
    Summary
    Predicted to act upstream of or within negative regulation of ATPase-coupled calcium transmembrane transporter activity and negative regulation of calcium ion binding activity. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in stomach (RPKM 5.0), testis (RPKM 3.1) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SMIM6 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75646251..75647974)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76539438..76541160)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73642331..73644054)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73583697-73584530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73584531-73585362 Neighboring gene myosin XVB Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73628586-73629266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73629267-73629946 Neighboring gene RecQ like helicase 5 Neighboring gene Sharpr-MPRA regulatory region 461 Neighboring gene small integral membrane protein 5 Neighboring gene HNF1 motif-containing MPRA enhancer 181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12771 Neighboring gene uncharacterized LOC107985013 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:73662359-73663558 Neighboring gene SAP30 binding protein Neighboring gene SAP30BP antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    General protein information

    Preferred Names
    small integral membrane protein 6
    Names
    endoregulin

    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_001162997.2NP_001156469.1  small integral membrane protein 6

      See identical proteins and their annotated locations for NP_001156469.1

      Status: VALIDATED

      Source sequence(s)
      AC087749, AI167865, AL041162, BC062771
      Consensus CDS
      CCDS54166.1
      UniProtKB/Swiss-Prot
      P0DI80
      Related
      ENSP00000463361.1, ENST00000579469.2
      Conserved Domains (1) summary
      cl24410
      Location:1746
      CASIMO1; Cancer Associated Small Integral Membrane Open reading frame 1 (CASIMO1)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75646251..75647974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76539438..76541160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)