RBCC

CD109_HUMAN

Source: BD_CD
Marked as 'Membrane associated protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: CD109 , CPAMD7
Protein names and data: CD109_HUMAN , CD109 antigen , 150 kDa TGF-beta-1-binding protein; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7; Platelet-specific Gov antigen; p180; r150; CD109; Flags: Precursor Lenght: 1445 a.a.
Mass: 161689 Da
fasta formatted sequence
Function: Modulates negatively TGFB1 signaling in keratinocytes.
Cellular location: Cell membrane; Lipid-anchor, GPI-anchor.
Tissue specificity: Widely expressed with high level in uterus, aorta, heart, lung, trachea, placenta and in fetal heart, kidney, liver, spleen and lung. Expressed by CD34(+) acute myeloid leukemia cell lines, T-cell lines, activated T-lymphoblasts, endothelial cells and activated platelets. Isoform 5 is expressed in placenta. Isoform 1 is expressed in keratinocytes and placenta.

Genetic variants

The Gov(b) variant in position 703 defines the Gov alloantigenic determinants.

45 - 45 G -> V (in dbSNP:rs9446983). VAR_028875 9446983
377 - 377 G -> D (in dbSNP:rs7741152). VAR_048105 7741152
641 - 641 L -> F (in dbSNP:rs7742662). VAR_048106 7742662
703 - 703 Y -> S (in allele Gov(b); dbSNP:rs10455097). VAR_028876 10455097
797 - 797 N -> S (in dbSNP:rs2351528). VAR_028877 2351528
845 - 845 V -> I (in dbSNP:rs5023688). VAR_028878 5023688
1007 - 1007 Q -> E (in a colorectal cancer sample; somatic mutation). VAR_036236
1009 - 1009 V -> M (in dbSNP:rs35630075). VAR_048107 35630075
1065 - 1065 N -> K (in a colorectal cancer sample; somatic mutation). VAR_036237
1241 - 1241 T -> M (in dbSNP:rs2917862). VAR_028879 2917862
1296 - 1296 H -> R (in dbSNP:rs13207595). VAR_048108 13207595

Database cross-references

UniProt: Q6YHK3
Ensembl: ENST00000287097
Ensembl: ENST00000422508
Ensembl: ENST00000437994
MIM: 608859
neXtProt: NX_Q6YHK3
Antibodypedia: Q6YHK3 (may not find the protein thus also not any antibody)
Local full text data: click here

RBCC Red Blood Cell Collection

CD109_HUMAN

Genetic variants

Database cross-references

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