TRFE_HUMAN
Source:
hRBCD
; ID:
IPI00022463
PM23856902
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
TF
, PRO1400
Protein names and data:
TRFE_HUMAN
, Serotransferrin; Transferrin
, Beta-1 metal-binding globulin; Siderophilin; Flags: Precursor
Lenght: 698 a.a.
Mass: 77064 Da
fasta formatted sequence
Function:
Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.
Disease:
( OMIM:
190000
209300
)
Atransferrinemia (ATRAF) [MIM:209300]: A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted.
Tissue specificity:
Expressed by the liver and secreted in plasma.
Genetic variants
Different polymorphic variants of transferrin are known. The sequence shown is the predominant electrophoretic variant (C1 or TF*C1).
42 - 42
R -> L (in dbSNP:rs41298293). VAR_034569
41298293
55 - 55
S -> R (in dbSNP:rs8177318). VAR_029280
8177318
76 - 76
A -> V (in dbSNP:rs41298977). VAR_034570
41298977
77 - 77
D -> N (in ATRAF). VAR_038810
142 - 142
G -> S (in dbSNP:rs1799830). VAR_011997
1799830
277 - 277
G -> S (in allele TF*C3; associated with a reduction in total iron binding capacity; risk factor for iron deficiency anemia in menstruating white women; dbSNP:rs1799899). VAR_011998
1799899
296 - 296
D -> G (in allele TF*D1; dbSNP:rs8177238). VAR_007544
8177238
319 - 319
H -> R (in allele TF*CHI; dbSNP:rs41295774). VAR_007545
41295774
377 - 377
W -> C (in dbSNP:rs1804498). VAR_011999
1804498
448 - 448
I -> V (in dbSNP:rs2692696). VAR_058199
2692696
477 - 477
A -> P (in ATRAF). VAR_012997
562 - 562
G -> V (in dbSNP:rs41296590). VAR_034571
41296590
589 - 589
P -> S (in allele TF*C2; dbSNP:rs1049296). VAR_012000
1049296
645 - 645
T -> P (in dbSNP:rs1130537). VAR_012001
1130537
646 - 646
K -> E (in allele TF*BV). VAR_012998
671 - 671
G -> E (in allele TF*B2; dbSNP:rs121918677). VAR_012999
121918677
Database cross-references
UniProt:
P02787
Ensembl:
ENST00000402696
MIM:
190000
MIM:
209300
neXtProt:
NX_P02787
Antibodypedia:
P02787
(may not find the protein thus also not any antibody)
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