PRIC1_HUMAN
Source:
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PRICKLE1
, RILP
Protein names and data:
PRIC1_HUMAN
, Prickle-like protein 1
, REST/NRSF-interacting LIM domain protein 1; Flags: Precursor
Lenght: 831 a.a.
Mass: 94300 Da
fasta formatted sequence
Function:
Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor.
Disease:
( OMIM:
182940
608500
612437
)
Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]: An autosomal recessive disorder characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia. Note=The disease is caused by mutations affecting the gene represented in this entry. Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Cellular location:
Nucleus membrane. Cytoplasm, cytosol. Note=A smaller amount is detected in the cytosol.
Tissue specificity:
Expressed at highest levels in placenta and at lower levels in lung, liver, kidney and pancreas. Expressed in thalamus, hippocampus, cerebral cortex, and cerebellum (in neurons rather than glia).
Genetic variants
69 - 69
I -> T (may be associated with NTD; dbSNP:rs141795695). VAR_066850
141795695
81 - 81
N -> H (may be associated with NTD). VAR_066851
104 - 104
R -> Q (in EPM1B; affects interaction with REST). VAR_054663
121 - 121
V -> I (may be associated with NTD). VAR_066852
124 - 124
A -> T (in dbSNP:rs79087668). VAR_066853
79087668
144 - 144
R -> H (in EPM1B). VAR_065580
275 - 275
T -> M (may be associated with NTD). VAR_066854
472 - 472
Y -> H (in EPM1B). VAR_065581
682 - 682
R -> C (may be associated with NTD). VAR_066855
739 - 739
S -> F (may be associated with NTD; dbSNP:rs138452760). VAR_066856
138452760
746 - 746
P -> S (in dbSNP:rs3827522). VAR_056164
3827522
771 - 771
D -> N (may be associated with NTD). VAR_066857
799 - 799
S -> C (may be associated with NTD). VAR_066858
Database cross-references
UniProt:
Q96MT3
Ensembl:
ENST00000345127
Ensembl:
ENST00000445766
Ensembl:
ENST00000455697
Ensembl:
ENST00000548696
Ensembl:
ENST00000552240
MIM:
182940
MIM:
608500
MIM:
612437
neXtProt:
NX_Q96MT3
Antibodypedia:
Q96MT3
(may not find the protein thus also not any antibody)
Local full text data:
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