NME8
entrez
51314
canonical
uniprot
Q8N427
canonical
ensembl
ENSG00000086288
resolver
ensp
ENSP00000199447
resolver
ensp
ENSP00000397063
resolver
enst
ENST00000199447
resolver
enst
ENST00000440017
resolver
genesymbol
NME8
resolver
genesymbol_syn
SPTRX2
resolver
genesymbol_syn
TXNDC3
resolver
hgnc
HGNC:16473
resolver
uniprot
Q9NZH1
resolver
uniprot_entry
NDK8_HUMAN
resolver
uniprot_sec
Q9NZH1
resolver
amino_acid_sequence
MASKKREVQLQTVINNQSLWDEMLQNKGLTVIDVYQAWCGPCRAMQPLFRKLKNELNEDEILHFAVAEADNIVTLQPFRDKCEPVFLFSVNGKIIEKIQGANAPLVNKKVINLIDEERKIAAGEMARPQYPEIPLVDSDSEVSEESPCESVQELYSIAIIKPDAVISKKVLEIKRKITKAGFIIEAEHKTVLTEEQVVNFYSRIADQCDFEEFVSFMTSGLSYILVVSQGSKHNPPSEETEPQTDTEPNERSEDQPEVEAQVTPGMMKNKQDSLQEYLERQHLAQLCDIEEDAANVAKFMDAFFPDFKKMKSMKLEKTLALLRPNLFHERKDDVLRIIKDEDFKILEQRQVVLSEKEAQALCKEYENEDYFNKLIENMTSGPSLALVLLRDNGLQYWKQLLGPRTVEEAIEYFPESLCAQFAMDSLPVNQLYGSDSLETAEREIQHFFPLQSTLGLIKPHATSEQREQILKIVKEAGFDLTQVKKMFLTPEQIEKIYPKVTGKDFYKDLLEMLSVGPSMVMILTKWNAVAEWRRLMGPTDPEEAKLLSPDSIRAQFGISKLKNIVHGASNAYEAKEVVNRLFEDPEEN
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 6 (CILD6) [MIM:610852]: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:17360648}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.-.-
uniprot
proteins
ec_number
3.1.11.-
uniprot
proteins
function
FUNCTION: Possesses an intrinsic kinase activity (PubMed:16313181). In vitro, does not exhibit nucleoside diphosphate kinase (NDPK) activity or disulfide bond-reducing activity (PubMed:11737268, PubMed:16313181). Additionally, 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, suggesting a role in DNA nucleolytic processing (PubMed:16313181). May be required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs (By similarity). {ECO:0000250|UniProtKB:Q715S9, ECO:0000269|PubMed:11737268, ECO:0000269|PubMed:16313181}.
uniprot
proteins
mass_dalton
67270
uniprot
proteins
post_translational_modification
PTM: Undergoes autophosphorylation. {ECO:0000269|PubMed:16313181}.
uniprot
proteins
protein_family
NDK family
uniprot
proteins
pubmed
11737268
uniprot
proteins
pubmed
11768308
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16313181
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17360648
uniprot
proteins
sequence_length
588
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11737268}. Note=In spermatozoa, it is an integral component of the fibrous sheath (FS). {ECO:0000250|UniProtKB:Q715S9}.
uniprot
proteins