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SMIM46 small integral membrane protein 46 [ Homo sapiens (human) ]

Gene ID: 127138866, updated on 2-Nov-2024

Summary

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Official Symbol
SMIM46provided by HGNC
Official Full Name
small integral membrane protein 46provided by HGNC
Primary source
HGNC:HGNC:56307
See related
Ensembl:ENSG00000289762 AllianceGenome:HGNC:56307
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, Nov 2024]
Orthologs
all
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Genomic context

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See SMIM46 in Genome Data Viewer
Location:
19p13.12
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14112324..14112476, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14238936..14239088, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14223136..14223288, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14154 Neighboring gene chromosome 19 open reading frame 67 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14199415-14199924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10232 Neighboring gene MPRA-validated peak3379 silencer Neighboring gene sterile alpha motif domain containing 1 Neighboring gene protein kinase cAMP-activated catalytic subunit alpha Neighboring gene Sharpr-MPRA regulatory region 14201 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14223743-14224430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10234 Neighboring gene uncharacterized LOC124904642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14155 Neighboring gene anti-silencing function 1B histone chaperone Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14156 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14247764-14248390 Neighboring gene ADGRL1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14258690-14259433 Neighboring gene adhesion G protein-coupled receptor L1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14278263-14278762

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 Variation Viewer (GRCh37.p13)

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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 46

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_001414411.1 → NP_001401340.1  small integral membrane protein 46

    Status: VALIDATED

    Source sequence(s)
    AC022098
    UniProtKB/Swiss-Prot
    P0DQW1
    UniProtKB/TrEMBL
    A0A8V8TMW6
    Related
    ENSP00000514215.1, ENST00000699221.1

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
    14112324..14112476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160022.1 Reference GRCh38.p14 PATCHES

    Range
    324483..324635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    14238936..14239088 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DQW1.1 GenPept UniProtKB/Swiss-Prot:P0DQW1

Gene LinkOut

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

Molecular Biology Databases