NAF1
entrez
92345
canonical
uniprot
Q96HR8
canonical
ensembl
ENSG00000145414
resolver
ensp
ENSP00000274054
resolver
ensp
ENSP00000408963
resolver
ensp
ENSP00000521341
resolver
genesymbol
NAF1
resolver
hgnc
HGNC:25126
resolver
uniprot
D3DP28
resolver
uniprot
E9PAZ2
resolver
uniprot_entry
NAF1_HUMAN
resolver
uniprot_sec
D3DP28
resolver
uniprot_sec
E9PAZ2
resolver
amino_acid_sequence
MEVVEAAAAQLETLKFNGTDFGVGEGPAAPSPGSAPVPGTQPPLQSFEGSPDAGQTVEVKPAGEQPLQPVLNAVAAGTPAPQPQPPAESPACGDCVTSPGAAEPARAPDSLETSDSDSDSDSETDSDSSSSSSSSSSSSSSSSSSCISLPPVLSDGDDDLQIEKENKNFPLKTKDELLLNELPSVEELTIILPEDIELKPLGMVSSIIEQLVIIESMTNLPPVNEETVIFKSDRQAAGKIFEIFGPVAHPFYVLRFNSSDHIESKGIKIKETMYFAPSMKDFTQYIFTEKLKQDKGSDASWKNDQEPPPEALDFSDDEKEKEAKQRKKSQIQGRKKLKSEFNEPGEDFTEVHQNWNAHSSASEHAKGYRNREFTRGFSRARYPRSCHGRPPPQHFYNSEHMVSQETSGFPSQRQNNPIMPQYPFPLPVFDMHNFPLRPPPPPPPPPVNMGWATPNMAAHPLLNLPYSLPPPPPPPPLPPPPSSGDSNSHFGPYY
uniprot
proteins
disease_involvement
DISEASE: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 7 (PFBMFT7) [MIM:620365]: An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT7 patients manifest anemia, lymphopenia, liver involvement with portal hypertension and hepatopulmonary syndrome, premature graying of the hair, nail dystrophy, and predisposition to squamous cell cancers or myelodysplasia. {ECO:0000269|PubMed:27510903}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4. {ECO:0000269|PubMed:16618814}.
uniprot
proteins
mass_dalton
53717
uniprot
proteins
protein_family
NAF1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16601202
uniprot
proteins
pubmed
16618814
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17135485
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27510903
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
494
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27510903}. Nucleus {ECO:0000269|PubMed:27510903}. Note=Shuttles between the cytoplasm and the nucleus. Absent from the nucleolus (By similarity). {ECO:0000250|UniProtKB:P53919}.
uniprot
proteins