Polymorphism

C O N T E N T S

  1. See Also
  2. Description

See Also

Serology

Description

This file is a summary of the human proteins that are responsible for the molecular basis of the blood group antigens. Blood group antigens are surface markers on the outside of the red blood cell membrane. Most of them are proteins, but some are carbohydrates attached to lipids or proteins.

BLOOD GROUP ANTIGEN PROTEINS
 Blood Group Carrier or Effector Protein Name systemGene nameSWISS-PROT cross referenceAntigen names
ABOFucosylglycoprotein alpha-n-acetylgalactosaminyltransferase (EC 2.4.1.40) (Histo-blood group A transferase) / Fucosylglycoprotein 3-alpha-galactosyltransferase (EC 2.4.1.37) (Histo-blood group B transferase)Gene: ABOBGAT_HUMANAntigens: A/B
Chido/RodgersComplement C4Gene: C4A and C4BCO4_HUMANAntigens: Ch1 to Ch6, WH, Rg1, Rg2
ColtonAquaporin-CHIP (Aquaporin 1). Gene: AQP1; CHIP28AQP1_HUMANAntigens: Co(a/b
CromerComplement decay-accelerating factor (Antigen CD55).Gene: DAF; CD55DAF_HUMANAntigens: Cr(a), Dr(a), Es(a), Tc(a/b/c), Wd(a), WES(a/b), IFC, UMC
DiegoBand 3 anion transport protein (Anion exchange protein 1) (AE 1).Gene: SLC4A1; AE1;EPB3B3AT_HUMANAntigens: Di(a/b), Wr(a/b), Wd(a), Rb(a), WARR
DombrockDombrock glycoprotein.Gene: DONot yet identifiedAntigens: Do(a/b), Gy(a), Hy, Jo(A)
DuffyDuffy antigen (Fy glycoprotein) (Glycoprotein D) (GpFy).Gene: FY; GPD; DARCDUFF_HUMANAntigens: Fy(a/b)
GerbichGlycophorin C (PAS-2') (Glycoprotein beta) (Glycoconnectin) (Sialoglycoprotein D) (Glycophorin D) (GpD).Gene: GYPC; GPCGLPC_HUMANAntigens: An(a), Dh(A), Ls(a), Wb
HhGalactoside 2-L-fucosyltransferase 1 (EC 2.4.1.69) (Alpha(1,2)Ft 1)(Fucosyltransferase 1)Gene: FUT1FUT1_HUMAN *
HhGalactoside 2-L-fucosyltransferase 2 (EC 2.4.1.69) (Alpha(1,2)Ft 2)(Fucosyltransferase 2) (Secretor factor).Gene: FUT2FUT2_HUMANAntigens: H/h, Se/se
IIiGene: GCNT2, IGnTAntigens: I/i
IndianCD44 antigen (Phagocytic glycoprotein I) (PGP-1) (Hutch-I) (Extracellular matrix receptor-III) (ECMR-III) (Hermes antigen) (Hyaluronate receptor) (Heparan sulfate proteoglycan) (Epican).Gene: CD44; LHRCD44_HUMANAntigens: In(a/b)
KellKell blood group glycoprotein (EC 3.4.24.-).Gene: KELKELL_HUMANAntigens: K/k, Kp(a/b/c), Js(a/b), Ul(a), KEL11/17, KEL14/24
KiddUrea transporter, erythrocyte.Gene: SLC14A1; UT1; HUT11; UTE; JK; RACH1UT1_HUMANAntigens: Jk(a/b)
KnopsComplement receptor type 1 (C3b/C4b receptor) (Antigen CD35).Gene: CR1; C3BRCR1_HUMANAntigens: Kn(a/b), McC(a), Sl(a), Yk(a)
KxMembrane transport protein XK (Kx antigen).Gene: XKXK_HUMAN 
Landsteiner-WienerLandsteiner-Wiener blood group glycoprotein.Gene: LWLW_HUMANAntigens: Lw(a/b)
LewisGalactoside 3(4)-L-fucosyltransferase (EC 2.4.1.65) (Fucosyltransferase 3) (FUCT-III).Gene: FUT3; LEFUT3_HUMANAntigens: Le(a/b)
LutheranLutheran blood group glycoprotein (B-CAM cell surface glycoprotein) (Auberger B antigen) (F8/G253 antigen)Gene: LU; BCAM; MSK19LU_HUMANAntigens: Lu(a/b), Au(a/b), LU6 to LU20
MNSGlycophorin A (PAS-2) (Sialoglycoprotein alpha) (MN sialoglycoprotein).Gene: GYPA; GPAGLPA_HUMANAntigens: M/N, S/s, U, He, Mi(a), M(c), Vw, Mur, M(g), Vr, M(e), Mt(a), St(a), Ri(a), Cl(a), Ny(a), Hut, Hil, M(v), Far, Mit, Dantu, Hop, Nob, En(a), ENKT, etc.
MNSGlycophorin B (PAS-3) (Sialoglycoprotein delta) (SS-active sialoglycoprotein).Gene: GYPB; GPBGLPB_HUMAN*
PA yet undefined galactoyltransferase.Gene: P1Not yet identifiedAntigens: P1
RhBlood group RH(CE) polypeptide (Rhesus C/E antigens) (RHPI).Gene: RHCE; RHC; RHERHCE_HUMANAntigens: C/c, E/e, D, f, C(e), C(w), C(x), V, E(w), G, Tar,VS, D(w), cE, etc.
RhBlood group RH(D) polypeptide (Rhesus D antigen)(RHPII).Gene: RHDRHD_HUMANAntigens: C/c, E/e, D, f, C(e), C(w), C(x), V, E(w), G, Tar,VS, D(w), cE, etc.
SciannaScianna glycoprotein.Gene: SANot yet identifiedAntigens: Sc(1/2), Sc3
XgXg glycoprotein (Protein PBDX)Gene: XG; PBDXXG_HUMANAntigens: Xg(a)
YtAcetylcholinesterase (EC 3.1.1.7).Gene: ACHEACES_HUMANAntigens: Yt(a/b)