SMIM1_HUMAN

Source: PM23856902
BGMUT ; ID: 33
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: SMIM1
Protein names and data: SMIM1_HUMAN , Small integral membrane protein 1 , Vel blood group antigen Lenght: 78 a.a.
Mass: 8749 Da
fasta formatted sequence
Function: Regulator of red blood cells formation (By similarity).
Cellular location: Membrane; Single-pass membrane protein (Potential).
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.

Genetic variants

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.

Database cross-references

UniProt: B2RUZ4
Ensembl: ENST00000444870
MIM: 615242
MIM: 615264
neXtProt: NX_B2RUZ4
Antibodypedia: B2RUZ4 (may not find the protein thus also not any antibody)
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