RHCE_HUMAN
Source:
hRBCD
; ID:
IPI00329565
PM19886704
PM23856902
BGMUT
; ID: rh
PM22954596
Marked as 'Integral membrane protein'
Confidence:
high (a blood group or CD marker)
Search PubMed for
(RBC AND this entry)
Gene names:
RHCE
, RHC, RHE
Protein names and data:
RHCE_HUMAN
, Blood group Rh(CE) polypeptide
, Rh polypeptide 1; RhPI; Rh30A; RhIXB; Rhesus C/E antigens; CD240CE
Lenght: 417 a.a.
Mass: 45560 Da
fasta formatted sequence
Function:
May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Cellular location:
Membrane; Multi-pass membrane protein.
Tissue specificity:
Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts.
Genetic variants
RhCE and RhD are responsible for the RH blood group system. The molecular basis of the E=Rh3/e=Rh5 blood group antigens is a single variation in position 226; Pro-226 corresponds to Rh3 and Ala-226 to Rh5. The molecular basis of the C=Rh2/c=Rh4 blood group antigens is a single variation in position 102; Ser-103 corresponds to Rh2 and Pro-103 to Rh4.
16 - 16
W -> C (associated with altered expression of E antigen). VAR_006911
36 - 36
A -> T (in C(X)/Rh9 antigen). VAR_006912
41 - 41
Q -> R (in C(W)/Rh8 antigen; dbSNP:rs138268848). VAR_006913
138268848
60 - 60
L -> I (in dbSNP:rs181860403). VAR_006914
181860403
68 - 68
N -> S (in dbSNP:rs1053344). VAR_006915
1053344
103 - 103
P -> S (in C/Rh2 antigen; dbSNP:rs676785). VAR_006916
676785
127 - 127
A -> V (in dbSNP:rs1053346). VAR_055260
1053346
128 - 128
G -> D (in dbSNP:rs1053347). VAR_055261
1053347
154 - 154
R -> T (in RhEKH). VAR_013301
182 - 182
T -> S (in dbSNP:rs1053350). VAR_055262
1053350
198 - 198
N -> K (in dbSNP:rs1053354). VAR_055263
1053354
226 - 226
P -> A (in E/Rh5 antigen; dbSNP:rs609320). VAR_006917
609320
233 - 233
Q -> E (in RhEFM). VAR_013302
238 - 238
M -> V (in RhEFM; dbSNP:rs144163296). VAR_013303
144163296
245 - 245
L -> V (in VS antigen; dbSNP:rs1053361). VAR_006918
1053361
263 - 263
R -> G (in dbSNP:rs1132763). VAR_057987
1132763
267 - 267
M -> K (in dbSNP:rs1132764). VAR_057988
1132764
323 - 323
H -> P (in dbSNP:rs1053366). VAR_055264
1053366
325 - 325
I -> S (in dbSNP:rs1053367). VAR_055265
1053367
329 - 329
H -> D (in dbSNP:rs1053370). VAR_055266
1053370
329 - 329
H -> R (in dbSNP:rs1053371). VAR_055267
1053371
330 - 330
S -> Y (in dbSNP:rs1053372). VAR_055268
1053372
331 - 331
I -> N (in dbSNP:rs1053373). VAR_055269
1053373
398 - 398
V -> E (in dbSNP:rs630612). VAR_057989
630612
Database cross-references
UniProt:
P18577
Ensembl:
ENST00000294413
MIM:
111690
MIM:
111700
neXtProt:
NX_P18577
Antibodypedia:
P18577
(may not find the protein thus also not any antibody)
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