Source: hRBCD ; ID: IPI00025257
BGMUT ; ID: jmh
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)

Gene names: SEMA7A , CD108, SEMAL
Protein names and data: SEM7A_HUMAN , Semaphorin-7A , CDw108; JMH blood group antigen; John-Milton-Hargen human blood group Ag; Semaphorin-K1; Sema K1; Semaphorin-L; Sema L; CD108; Flags: Precursor Lenght: 666 a.a.
Mass: 74824 Da
fasta formatted sequence

Function: Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes.
Cellular location: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Note=Detected in a punctate pattern on the cell membrane of basal and supra-basal skin keratinocytes.
Tissue specificity: Detected in skin keratinocytes and on endothelial cells from skin blood vessels (at protein level). Expressed in fibroblasts, keratinocytes, melanocytes, placenta, testis, ovary, spleen, brain, spinal chord, lung, heart, adrenal gland, lymph nodes, thymus, intestine and kidney.

Genetic variants

Genetic variations in SEMA7A define the John Milton Hagen blood group system (JMH) [MIM:614745]. Three different JMH phenotypes have been identified based on the presence or absence of the high-frequency JMH antigen: JMH-weak, JMH-negative, and JMH-variant. The JMH-weak and -negative phenotypes can be either acquired or inherited and are characterized by a reduction or complete loss of JMH expression on red blood cells. Individuals with the JMH-variant phenotype are usually JMH-positive and have alloantibodies compatible with JMH-negative red blood cells. The JMH-variant phenotype results from rare SEMA7A missense variants.

Database cross-references

UniProt: O75326
Ensembl: ENST00000261918
Ensembl: ENST00000543145
MIM: 607961
MIM: 614745
neXtProt: NX_O75326
Antibodypedia: O75326 (may not find the protein thus also not any antibody)
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