IGHG1_HUMAN
Source:
PM19886704
PM23856902
BSc_CH
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:
IGHG1
Protein names and data:
IGHG1_HUMAN
, Ig gamma-1 chain C region
Lenght: 330 a.a.
Mass: 36106 Da
fasta formatted sequence
Disease:
( OMIM:
147100
254500
)
Multiple myeloma (MM) [MIM:254500]: A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving IGHG1 is found in multiple myeloma. Translocation t(11;14)(q13;q32) with the IgH locus. Translocation t(11;14)(q13;q32) with CCND1; translocation t(4;14)(p16.3;q32.3) with FGFR3; translocation t(6;14)(p25;q32) with IRF4.
Cellular location:
Secreted.
Genetic variants
97 - 97
K -> R (in G1M(3) marker). VAR_003886
239 - 239
D -> E (in G1M(non-1) marker). VAR_003887
241 - 241
L -> M (in G1M(non-1) marker). VAR_003888
Database cross-references
UniProt:
P01857
Ensembl:
ENST00000390549
Ensembl:
ENST00000605583
MIM:
147100
MIM:
254500
neXtProt:
NX_P01857
Antibodypedia:
P01857
(may not find the protein thus also not any antibody)
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