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Aliases for SMIM1 Gene

Aliases for SMIM1 Gene

  • Small Integral Membrane Protein 1 (Vel Blood Group) 2 3
  • Small Integral Membrane Protein 1 2 3
  • Vel Blood Group Antigen 3 4
  • Vel 3 6

External Ids for SMIM1 Gene

Summaries for SMIM1 Gene

Entrez Gene Summary for SMIM1 Gene

  • 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]

GeneCards Summary for SMIM1 Gene

SMIM1 (Small Integral Membrane Protein 1 (Vel Blood Group)) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SMIM1 Gene

  • Regulator of red blood cells formation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMIM1 Gene

Genomics for SMIM1 Gene

Genomic Location for SMIM1 Gene

Start:
3,772,761 bp from pter
End:
3,775,982 bp from pter
Size:
3,222 bases
Orientation:
Plus strand

Genomic View for SMIM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM1 Gene

No data available for Regulatory Elements for SMIM1 Gene

Proteins for SMIM1 Gene

  • Protein details for SMIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B2RUZ4-SMIM1_HUMAN
    Recommended name:
    Small integral membrane protein 1
    Protein Accession:
    B2RUZ4
    Secondary Accessions:

    Protein attributes for SMIM1 Gene

    Size:
    78 amino acids
    Molecular mass:
    8749 Da
    Quaternary structure:
    • Homooligomer; disulfide-linked.

neXtProt entry for SMIM1 Gene

Proteomics data for SMIM1 Gene at MOPED

Post-translational modifications for SMIM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMIM1 Gene

No data available for DME Specific Peptides for SMIM1 Gene

Domains for SMIM1 Gene

Gene Families for SMIM1 Gene

HGNC:

Protein Domains for SMIM1 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

B2RUZ4

UniProtKB/Swiss-Prot:

SMIM1_HUMAN
Family:
  • Belongs to the SMIM1 family.:
    • B2RUZ4
genes like me logo Genes that share domains with SMIM1: view

No data available for Suggested Antigen Peptide Sequences for SMIM1 Gene

Function for SMIM1 Gene

Molecular function for SMIM1 Gene

UniProtKB/Swiss-Prot Function: Regulator of red blood cells formation.

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SMIM1 Gene

Localization for SMIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM1 Gene

Membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for SMIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SMIM1: view

No data available for Subcellular locations from COMPARTMENTS for SMIM1 Gene

Pathways for SMIM1 Gene

SuperPathways for SMIM1 Gene

No Data Available

Interacting Proteins for SMIM1 Gene

Gene Ontology (GO) - Biological Process for SMIM1 Gene

None

No data available for Pathways by source for SMIM1 Gene

Transcripts for SMIM1 Gene

mRNA/cDNA for SMIM1 Gene

Unigene Clusters for SMIM1 Gene

Small integral membrane protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM1 Gene

No ASD Table

Relevant External Links for SMIM1 Gene

GeneLoc Exon Structure for
SMIM1
ECgene alternative splicing isoforms for
SMIM1

Expression for SMIM1 Gene

mRNA expression in normal human tissues for SMIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMIM1 Gene

This gene is overexpressed in Whole Blood (12.8), Testis (6.0), and Heart - Atrial Appendage (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SMIM1 Gene

SOURCE GeneReport for Unigene cluster for SMIM1 Gene Hs.22047

mRNA Expression by UniProt/SwissProt for SMIM1 Gene

B2RUZ4-SMIM1_HUMAN
Tissue specificity: Highly expressed in the bone marrow and expressed at lower levels in non-hematopoietic tissues. Highly expressed in erythroleukemia cell lines. Up-regulated in CD34+ hematopoietic progenitors cultured toward red blood cells.
genes like me logo Genes that share expressions with SMIM1: view

Orthologs for SMIM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMIM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMIM1 35
  • 98.72 (n)
  • 97.44 (a)
cow
(Bos Taurus)
Mammalia SMIM1 35
  • 79.91 (n)
  • 69.23 (a)
SMIM1 36
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMIM1 35
  • 81.2 (n)
  • 70.51 (a)
SMIM1 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smim1 35
  • 82.48 (n)
  • 80.77 (a)
Smim1 16
Smim1 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smim1 35
  • 82.91 (n)
  • 79.49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia smim1 35
  • 66.23 (n)
  • 67.11 (a)
Species with no ortholog for SMIM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SMIM1 Gene

ENSEMBL:
Gene Tree for SMIM1 (if available)
TreeFam:
Gene Tree for SMIM1 (if available)

Paralogs for SMIM1 Gene

No data available for Paralogs for SMIM1 Gene

Variants for SMIM1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM1 Gene

B2RUZ4-SMIM1_HUMAN
SMIM1 is responsible for the Vel blood group system (VEL) [MIM:615264]. The Vel antigen is present on red blood cells from all people except rare Vel-negative individuals who can form antibodies to Vel in response to transfusion or pregnancy. These antibodies may cause severe hemolytic reactions in blood recipients. In most cases, Vel-negative individuals are homozygous for a 17 nucleotide frameshift deletion in exon 3. In some cases, Vel-negative are heterozygous for the 17 nucleotide frameshift deletion and a missense variant at position 51

Sequence variations from dbSNP and Humsavar for SMIM1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1175548 -- 3,776,468(-) ACACA(C/T)AGCCA downstream-variant-500B
rs1175549 -- 3,775,163(-) CAAAG(G/T)GGTAG intron-variant
rs1175550 -- 3,774,964(-) CCCAA(C/T)CTAGG intron-variant
rs1181893 -- 3,774,906(-) CGCCT(G/T)CTGGC intron-variant
rs1184341 -- 3,774,676(-) CCGGG(A/G)TGGAT intron-variant

Relevant External Links for SMIM1 Gene

HapMap Linkage Disequilibrium report
SMIM1
Human Gene Mutation Database (HGMD)
SMIM1

No data available for Structural Variations from Database of Genomic Variants (DGV) for SMIM1 Gene

Disorders for SMIM1 Gene

(1) OMIM Diseases for SMIM1 Gene (615242)

No disorders were found for SMIM1 Gene.

No data available for UniProtKB/Swiss-Prot for SMIM1 Gene

Publications for SMIM1 Gene

  1. Disruption of SMIM1 causes the Vel- blood type. (PMID: 23505126) Ballif B.A. … Arnaud L. (EMBO Mol. Med. 2013) 2 3 4
  2. Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype. (PMID: 23563606) Storry J.R. … Olsson M.L. (Nat. Genet. 2013) 2 3 4
  3. SMIM1 underlies the Vel blood group and influences red blood cell traits. (PMID: 23563608) Cvejic A. … Albers C.A. (Nat. Genet. 2013) 2 3 4
  4. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. (PMID: 23720494) Evans D.M. … Whitfield J.B. (Hum. Mol. Genet. 2013) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4

Products for SMIM1 Gene

Sources for SMIM1 Gene

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