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SMIM13 small integral membrane protein 13 [ Homo sapiens (human) ]

Gene ID: 221710, updated on 22-Sep-2022

Summary

Official Symbol
SMIM13provided by HGNC
Official Full Name
small integral membrane protein 13provided by HGNC
Primary source
HGNC:HGNC:27356
See related
Ensembl:ENSG00000224531 AllianceGenome:HGNC:27356
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
C6orf228
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 20.9), placenta (RPKM 7.3) and 23 other tissues See more
Orthologs
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Genomic context

See SMIM13 in Genome Data Viewer
Location:
6p24.2
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (11093834..11138733)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10961754..11006653)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (11094067..11138966)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ELOVL fatty acid elongase 2 Neighboring gene siah E3 ubiquitin protein ligase family member 3 pseudogene Neighboring gene ELOVL2 antisense RNA 1 Neighboring gene endogenous retrovirus group FRD member 1, envelope Neighboring gene Sharpr-MPRA regulatory region 3750 Neighboring gene Sharpr-MPRA regulatory region 2452 Neighboring gene uncharacterized LOC124901256 Neighboring gene neural precursor cell expressed, developmentally down-regulated 9

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

Phenotypes

EBI GWAS Catalog

Description
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
small integral membrane protein 13
Names
UPF0766 protein C6orf228

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_001135575.2NP_001129047.1  small integral membrane protein 13

    See identical proteins and their annotated locations for NP_001129047.1

    Status: VALIDATED

    Source sequence(s)
    AA724884, AL136139, BC032356
    Consensus CDS
    CCDS56396.1
    UniProtKB/Swiss-Prot
    G3V581, P0DJ93
    Related
    ENSP00000451866.1, ENST00000416247.4
    Conserved Domains (1) summary
    pfam15938
    Location:146
    DUF4750; Domain of unknown function (DUF4750)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    11093834..11138733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    10961754..11006653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)