SMIM1
Small integral membrane protein 1
Also known as: SMIM1_HUMAN, Vel
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- B2RUZ4
- Gene
- SMIM1
- Ensembl
- ENSG00000235169
- Chromosome
- 1
- Canonical length
- 78 aa
- Protein class
- Blood group antigen proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Quaternary structure
- Homooligomer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
78 residues, UniProt reviewed canonical sequence.
>B2RUZ4|SMIM1
1 MQPQESHVHY SRWEDGSRDG VSLGAVSSTE EASRCRRISQ RLCTGKLGIA MKVLGGVALF
61 WIIFILGYLT GYYVHKCKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SMIM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 48 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 48 nTPM
- testis: 47 nTPM
- bone marrow: 30 nTPM
- kidney: 20 nTPM
- pituitary gland: 20 nTPM
- liver: 16 nTPM
Single-cell type
- megakaryocytes: 538 nCPM
- erythrocyte progenitors: 225 nCPM
- platelets: 202 nCPM
- erythrocytes: 136 nCPM
- breast lactating cells: 74 nCPM
- parietal cells: 74 nCPM
Immune cell
- eosinophil: 49 nTPM
- basophil: 4.4 nTPM
- naive CD4 T-cell: 4 nTPM
- naive B-cell: 3.7 nTPM
- neutrophil: 3.3 nTPM
- memory B-cell: 2.5 nTPM
Brain region
- pons: 21 nTPM
- medulla oblongata: 18 nTPM
- choroid plexus: 15 nTPM
- white matter: 15 nTPM
- spinal cord: 14 nTPM
- midbrain: 14 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.82
- gnomAD pLI
- 0.03
- gnomAD missense Z
- 0.83
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Small integral membrane protein 1
- Domain of unknown function (DUF4731)
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SMIM1 as an antibody target. Whether an autoantibody or antibody against SMIM1 could matter depends on whether native SMIM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SMIM1 is annotated at the cell surface, where native SMIM1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SMIM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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