InnateDB Protein
|
IDBP-595477.3
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
HNRNPA1
|
Protein Name
|
heterogeneous nuclear ribonucleoprotein A1
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000448617
|
InnateDB Gene
|
IDBG-37588 (HNRNPA1)
|
Protein Structure
|
|
Function |
Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection. May play a role in HCV RNA replication. {ECO:0000269PubMed:17229681}.
|
Subcellular Localization |
Nucleus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles continuously between the nucleus and the cytoplasm along with mRNA. Component of ribonucleosomes. In the course of viral infection, colocalizes with HCV NS5B at speckles in the cytoplasm in a HCV-replication dependent manner.
|
Disease Associations |
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3) [MIM:615424]: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. {ECO:0000269PubMed:23455423}. Note=The disease is caused by mutations affecting the gene represented in this entry.Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:23455423}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 315 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
|
Predicted by orthology |
Total |
7 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000504
RNA recognition motif domain
IPR021662
Nuclear factor hnRNPA1
|
PFAM |
PF00076
PF11627
|
PRINTS |
|
PIRSF |
|
SMART |
SM00360
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P09651
|
PhosphoSite |
PhosphoSite-P09651
|
TrEMBL |
Q9BSM5
|
UniProt Splice Variant |
|
Entrez Gene |
3178
|
UniGene |
Hs.735600
|
RefSeq |
NP_002127
|
HUGO |
HGNC:5031
|
OMIM |
164017
|
CCDS |
CCDS41793
|
HPRD |
01242
|
IMGT |
|
EMBL |
AC078778
AK291113
BC002355
BC004945
BC009600
BC012158
BC033714
BC052296
BC070315
BC074502
BC103707
BC104236
BC104237
CH471054
X04347
X06747
X12671
X79536
|
GenPept |
AAH02355
AAH04945
AAH09600
AAH12158
AAH33714
AAH52296
AAH70315
AAH74502
AAI03708
AAI04237
AAI04238
BAF83802
CAA27874
CAA29922
CAA31191
CAA56072
EAW96761
EAW96769
EAW96770
|
|
|