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SMIM1 small integral membrane protein 1 (Vel blood group) [ Homo sapiens (human) ]

Gene ID: 388588, updated on 23-Nov-2021

Summary

Official Symbol
SMIM1provided by HGNC
Official Full Name
small integral membrane protein 1 (Vel blood group)provided by HGNC
Primary source
HGNC:HGNC:44204
See related
Ensembl:ENSG00000235169 MIM:615242
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Vel
Summary
This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]
Expression
Broad expression in testis (RPKM 6.7), bone marrow (RPKM 6.0) and 14 other tissues See more
Orthologs
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Genomic context

See SMIM1 in Genome Data Viewer
Location:
1p36.32
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (3772749..3775956)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (3689313..3692520)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tumor protein p73 Neighboring gene TP73 antisense RNA 1 Neighboring gene coiled-coil domain containing 27 Neighboring gene RNA, 7SL, cytoplasmic 574, pseudogene Neighboring gene leucine rich repeat containing 47 Neighboring gene Sharpr-MPRA regulatory region 1968

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
GeneReviews: Not available
Vel blood group system
MedGen: C2745907 OMIM: 615264 GeneReviews: Not available
not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell surface IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
small integral membrane protein 1
Names
vel blood group antigen

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.

Genomic

  1. NG_033869.1 RefSeqGene

    Range
    4989..8196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_827

mRNA and Protein(s)

  1. NM_001163724.3NP_001157196.1  small integral membrane protein 1

    See identical proteins and their annotated locations for NP_001157196.1

    Status: REVIEWED

    Source sequence(s)
    AL365330
    Consensus CDS
    CCDS57966.1
    UniProtKB/Swiss-Prot
    B2RUZ4
    UniProtKB/TrEMBL
    M4WDD3
    Related
    ENSP00000457386.1, ENST00000444870.7
    Conserved Domains (1) summary
    pfam15875
    Location:377
    DUF4731; Domain of unknown function (DUF4731)
  2. NM_001288583.2NP_001275512.1  small integral membrane protein 1

    See identical proteins and their annotated locations for NP_001275512.1

    Status: REVIEWED

    Source sequence(s)
    AL365330
    Consensus CDS
    CCDS57966.1
    UniProtKB/Swiss-Prot
    B2RUZ4
    UniProtKB/TrEMBL
    M4WDD3
    Related
    ENSP00000496314.2, ENST00000642557.4
    Conserved Domains (1) summary
    pfam15875
    Location:377
    DUF4731; Domain of unknown function (DUF4731)
  3. NM_001379690.1NP_001366619.1  small integral membrane protein 1

    Status: REVIEWED

    Source sequence(s)
    AL365330
    Conserved Domains (1) summary
    pfam15875
    Location:377
    DUF4731; Domain of unknown function (DUF4731)
  4. NM_001379691.1NP_001366620.1  small integral membrane protein 1

    Status: REVIEWED

    Source sequence(s)
    AL365330
    Conserved Domains (1) summary
    pfam15875
    Location:377
    DUF4731; Domain of unknown function (DUF4731)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    3772749..3775956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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