VP13B_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
VPS13B
, CHS1, COH1, KIAA0532
Protein names and data:
VP13B_HUMAN
, Vacuolar protein sorting-associated protein 13B
, Cohen syndrome protein 1
Lenght: 4022 a.a.
Mass: 448664 Da
fasta formatted sequence
Function:
May be involved in protein sorting in post Golgi membrane traffic (By similarity).
Disease:
( OMIM:
216550
607817
)
Cohen syndrome (COH1) [MIM:216550]: A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Widely expressed. There is apparent differential expression of different transcripts. In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all adult tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult. Expression is very low in adult brain tissue. Isoform 1 and isoform 2 are expressed in brain and retina. Isoform 2 is expressed ubiquitously.
Genetic variants
829 - 829
A -> T (in dbSNP:rs61753721). VAR_058749
61753721
866 - 866
V -> I. VAR_058750
1138 - 1138
P -> L (in dbSNP:rs35342235). VAR_057750
35342235
1494 - 1494
Missing (in COH1). VAR_058751
1739 - 1744
Missing (in COH1). VAR_058752
1994 - 1994
I -> V (in dbSNP:rs139640224). VAR_058753
139640224
2193 - 2193
L -> R (in COH1; could be a rare polymorphism). VAR_017759
2341 - 2341
Y -> C (in COH1). VAR_038422
2481 - 2481
V -> I (found in a patient with mental retardation and facial dysmorphisms). VAR_069429
2584 - 2584
V -> A (in dbSNP:rs7833870). VAR_057751
7833870
2645 - 2645
G -> D (in COH1). VAR_038423
2773 - 2773
S -> L (in COH1). VAR_058754
2820 - 2820
I -> T (in COH1). VAR_058755
2822 - 2822
Y -> C. VAR_058756
2993 - 2993
N -> S (in COH1; dbSNP:rs28940272). VAR_038424
28940272
3001 - 3001
L -> V (in a breast cancer sample; somatic mutation). VAR_036325
3142 - 3142
S -> R. VAR_058757
3432 - 3432
G -> R (in dbSNP:rs6468694). VAR_057752
6468694
Database cross-references
UniProt:
Q7Z7G8
Ensembl:
ENST00000355155
Ensembl:
ENST00000357162
Ensembl:
ENST00000358544
Ensembl:
ENST00000395996
Ensembl:
ENST00000441350
Ensembl:
ENST00000496144
MIM:
216550
MIM:
607817
neXtProt:
NX_Q7Z7G8
Antibodypedia:
Q7Z7G8
(may not find the protein thus also not any antibody)
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