B2RUZ4 · SMIM1_HUMAN
- ProteinSmall integral membrane protein 1
- GeneSMIM1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Regulator of red blood cell formation.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | cell surface | |
Cellular Component | plasma membrane | |
Molecular Function | protein homodimerization activity |
Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameSmall integral membrane protein 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionB2RUZ4
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Single-pass type II membrane protein
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-46 | Cytoplasmic | ||||
Sequence: MQPQESHVHYSRWEDGSRDGVSLGAVSSTEEASRCRRISQRLCTGK | ||||||
Transmembrane | 47-67 | Helical; Signal-anchor for type II membrane protein | ||||
Sequence: LGIAMKVLGGVALFWIIFILG | ||||||
Topological domain | 68-78 | Extracellular | ||||
Sequence: YLTGYYVHKCK |
Keywords
- Cellular component
Disease & Variants
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 6 | No effect on cell membrane localization; when associated with A-17; A-22 and A-27. No effect on cell surface expression of the Vel antigen; when associated with A-17; A-22 and A-27. | ||||
Sequence: S → A | ||||||
Mutagenesis | 17 | No effect on cell membrane localization; when associated with A-6; A-22 and A-27. No effect on cell surface expression of the Vel antigen; when associated with A-6; A-22 and A-27. | ||||
Sequence: S → A | ||||||
Mutagenesis | 22 | No effect on cell membrane localization; when associated with A-6; A-17 and A-27. No effect on cell surface expression of the Vel antigen; when associated with A-6; A-17 and A-27. | ||||
Sequence: S → A | ||||||
Mutagenesis | 27 | No effect on cell membrane localization; when associated with A-6; A-17 and A-22. No effect on cell surface expression of the Vel antigen; when associated with A-6; A-17 and A-22. | ||||
Sequence: S → A | ||||||
Mutagenesis | 35 | No effect on cell surface expression of the Vel antigen; when associated with S-43. | ||||
Sequence: C → S | ||||||
Mutagenesis | 43 | No effect on cell surface expression of the Vel antigen; when associated with S-35. | ||||
Sequence: C → S | ||||||
Natural variant | VAR_069360 | 51 | found in Vel-negative population; uncertain significance; heterozygous with the 17-nucleotide frameshift deletion; dbSNP:rs1182690110 | |||
Sequence: M → K | ||||||
Natural variant | VAR_069361 | 51 | found in Vel-negative population; uncertain significance; heterozygous with the 17-nucleotide frameshift deletion | |||
Sequence: M → R | ||||||
Mutagenesis | 76-78 | Loss of cell-surface expression of the Vel antigen. | ||||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 80 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for modified residue, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Modified residue | 1 | UniProt | N-acetylmethionine | ||||
Sequence: M | |||||||
Chain | PRO_0000356182 | 1-78 | UniProt | Small integral membrane protein 1 | |||
Sequence: MQPQESHVHYSRWEDGSRDGVSLGAVSSTEEASRCRRISQRLCTGKLGIAMKVLGGVALFWIIFILGYLTGYYVHKCK | |||||||
Modified residue | 6 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 6 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 10 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue | 17 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 17 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 22 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 22 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 27 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 27 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 28 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 29 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 33 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
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.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homooligomer; disulfide-linked.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-20 | Disordered | ||||
Sequence: MQPQESHVHYSRWEDGSRDG | ||||||
Region | 68-78 | Displays the Vel antigen | ||||
Sequence: YLTGYYVHKCK |
Domain
The extracellular domain carries the Vel antigen.
Sequence similarities
Belongs to the SMIM1 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length78
- Mass (Da)8,749
- Last updated2008-07-01 v1
- Checksum72B2879DC4986A82
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A2R8Y7R4 | A0A2R8Y7R4_HUMAN | SMIM1 | 74 | ||
H3BS66 | H3BS66_HUMAN | SMIM1 | 37 |
Polymorphism
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.
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AL365330 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC146945 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
BC146957 EMBL· GenBank· DDBJ | - | mRNA | No translation available. |