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P09651 Proteins RRM domain Repeats
Uniprot ID:P09651
Protein name: Heterogeneous nuclear ribonucleoprotein A1
Gene : HNRNPA1 HNRPA1
Protein Family:
Squence Length : 372
Sequnce
>P09651 373 MSKSESPKEPEQLRKLFIGGLSFETTDESLRSHFEQWGTLTDCVVMRDPNTKRSRGFGFVTYATVEEVDAAMNARPHKVDGRVVEPKRAVSREDSQRPGAHLTVKKIFVGGIKEDTEEHHLRDYFEQYGKIEVIEIMTDRGSGKKRGFAFVTFDDHDSVDKIVIQKYHTVNGHNCEVRKALSKQEMASASSSQRGRSGSGNFGGGRGGGFGGNDNFGRGGNFSGRGGFGGSRGGGGYGGSGDGYNGFGNDGGYGGGGPGYSGGSRGYGSGGQGYGNQGSGYGGSGSYDSYNNGGGGGFGGGSGSNFGGGGSYNDFGNYNNQSSNFGPMKGGNFGGRSSGPYGGGGQYFAKPRNQGGYGGSSSSSSYGSGRRF
Domains
DOMAIN 14 97 RRM 1 DOMAIN 105 184 RRM 2
RRM sequence regions
14 - 97 LFIGGLSFETTDESLRSHFEQWGTLTDCVVMRDPNTKRSRGFGFVTYATVEEVDAAMNARPHKVDGRVVEPKRAVSREDSQRPG 105 - 184 IFVGGIKEDTEEHHLRDYFEQYGKIEVIEIMTDRGSGKKRGFAFVTFDDHDSVDKIVIQKYHTVNGHNCEVRKALSKQEM
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 (PubMed:17371836). May bind to specific miRNA hairpins (PubMed:28431233).; (Microbial infection) May play a role in HCV RNA replication"
Mutation
326 326 G->A: No nuclear import nor export 327 327 P->A: No nuclear import nor export 334 335 GG->LL: Normal nuclear import and export
Disease
"DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry"