NME5
entrez
8382
canonical
uniprot
P56597
canonical
ensembl
ENSG00000112981
resolver
ensp
ENSP00000265191
resolver
ensp
ENSP00000573770
resolver
ensp
ENSP00000573771
resolver
ensp
ENSP00000675468
resolver
ensp
ENSP00000685526
resolver
enst
ENST00000265191
resolver
enst
ENST00000903711
resolver
enst
ENST00000903712
resolver
genesymbol
NME5
resolver
genesymbol_syn
RSPH23
resolver
hgnc
HGNC:7853
resolver
uniprot
A0A0S2Z4L9
resolver
uniprot
B2R5G7
resolver
uniprot_entry
A0A0S2Z4L9_HUMAN
resolver
uniprot_entry
NDK5_HUMAN
resolver
uniprot_sec
B2R5G7
resolver
amino_acid_sequence
MEISMPPPQIYVEKTLAIIKPDIVDKEEEIQDIILRSGFTIVQRRKLRLSPEQCSNFYVEKYGKMFFPNLTAYMSSGPLVAMILARHKAISYWLELLGPNNSLVAKETHPDSLRAIYGTDDLRNALHGSNDFAAAEREIRFMFPEVIVEPIPIGQAAKDYLNLHIMPTLLEGLTELCKQKPADPLIWLADWLLKNNPNKPKLCHHPIVEEPY
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 48, without situs inversus (CILD48) [MIM:620032]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed. {ECO:0000269|PubMed:32185794, ECO:0000269|PubMed:32950024}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.11.-
uniprot
proteins
function
FUNCTION: Functions as part of axonemal radial spoke complexes, which play an important part in the motility of sperm and cilia (By similarity). In vitro, does not display nucleoside diphosphate kinase (NDPK) activity (Probable) (PubMed:16313181, PubMed:9742940). Exhibits a 3'-5'-DNA exonuclease activity that removes single nucleotides from the 3' terminus of single-stranded DNA substrates and digests overhanging mismatched 3' termini from double-stranded DNA substrates, possibly participating in DNA nucleolytic processing (PubMed:16313181). Confers protection from cell death mediated by BAX and alters the cellular levels of several antioxidant enzymes, including GPX5 (By similarity). Might be involved in spermiogenesis by enhancing the ability of late-stage spermatids to eliminate reactive oxygen species (By similarity). {ECO:0000250|UniProtKB:Q99MH5, ECO:0000269|PubMed:16313181, ECO:0000305|PubMed:9742940}.
uniprot
proteins
mass_dalton
24236
uniprot
proteins
protein_family
NDK family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16313181
uniprot
proteins
pubmed
32185794
uniprot
proteins
pubmed
32950024
uniprot
proteins
pubmed
9742940
uniprot
proteins
sequence_length
212
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q99MH5}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q99MH5}.
uniprot
proteins