Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 4830
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol NME1   Gene   UCSC   Ensembl
Aliases AWD, GAAD, NB, NBS, NDKA, NDPK-A, NDPKA, NM23, NM23-H1
Gene name NME/NM23 nucleoside diphosphate kinase 1
Alternate names nucleoside diphosphate kinase A, NDP kinase A, granzyme A-activated DNase, metastasis inhibition factor nm23, non-metastatic cells 1, protein (NM23A) expressed in, tumor metastatic process-associated protein,
Gene location 17q21.33 (51153558: 51162088)     Exons: 6     NC_000017.11
Gene summary(Entrez) This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]
OMIM 156490

Protein Summary

Protein general information P15531  

Name: Nucleoside diphosphate kinase A (NDK A) (NDP kinase A) (EC 2.7.4.6) (Granzyme A activated DNase) (GAAD) (Metastasis inhibition factor nm23) (NM23 H1) (Tumor metastatic process associated protein)

Length: 152  Mass: 17,149

Tissue specificity: Isoform 1 is expressed in heart, brain, placenta, lung, liver, skeletal muscle, pancreas, spleen and thymus. Expressed in lung carcinoma cell lines but not in normal lung tissues. Isoform 2 is ubiquitously expressed and its expression

Sequence MANCERTFIAIKPDGVQRGLVGEIIKRFEQKGFRLVGLKFMQASEDLLKEHYVDLKDRPFFAGLVKYMHSGPVVA
MVWEGLNVVKTGRVMLGETNPADSKPGTIRGDFCIQVGRNIIHGSDSVESAEKEIGLWFHPEELVDYTSCAQNWI
YE
Structural information
Interpro:  IPR001564 IPR023005
Prosite:   PS00469

Pfam:  
PF00334

PDB:  
1JXV 1UCN 2HVD 2HVE 3L7U 4ENO
PDBsum:   1JXV 1UCN 2HVD 2HVE 3L7U 4ENO

DIP:  
39164
MINT:   221462
STRING:   ENSP00000013034;
Other Databases GeneCards:  NME1;  Malacards:  NME1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000287 magnesium ion binding
IDA molecular_function
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic DNA binding
IEA molecular_function
GO:0002762 negative regulation of my
eloid leukocyte different
iation
IEA biological_process
GO:0003697 single-stranded DNA bindi
ng
IEA molecular_function
GO:0004536 deoxyribonuclease activit
y
IDA molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
EXP molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
EXP molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
IDA molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
EXP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IDA molecular_function
GO:0005525 GTP binding
IDA molecular_function
GO:0005634 nucleus
TAS cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
IEA cellular_component
GO:0005813 centrosome
IEA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005882 intermediate filament
IEA cellular_component
GO:0006163 purine nucleotide metabol
ic process
IBA biological_process
GO:0006165 nucleoside diphosphate ph
osphorylation
IEA biological_process
GO:0006183 GTP biosynthetic process
IEA biological_process
GO:0006220 pyrimidine nucleotide met
abolic process
IBA biological_process
GO:0006228 UTP biosynthetic process
IEA biological_process
GO:0006241 CTP biosynthetic process
IEA biological_process
GO:0006259 DNA metabolic process
IEA biological_process
GO:0006897 endocytosis
IEA biological_process
GO:0007595 lactation
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
TAS biological_process
GO:0009142 nucleoside triphosphate b
iosynthetic process
IBA biological_process
GO:0010629 negative regulation of ge
ne expression
IEA biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
IEA biological_process
GO:0014075 response to amine
IEA biological_process
GO:0015949 nucleobase-containing sma
ll molecule interconversi
on
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0019215 intermediate filament bin
ding
IEA molecular_function
GO:0019901 protein kinase binding
IEA molecular_function
GO:0021766 hippocampus development
IEA biological_process
GO:0032587 ruffle membrane
IDA cellular_component
GO:0033574 response to testosterone
IEA biological_process
GO:0035690 cellular response to drug
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043015 gamma-tubulin binding
IEA molecular_function
GO:0043024 ribosomal small subunit b
inding
IPI molecular_function
GO:0043209 myelin sheath
IEA cellular_component
GO:0043388 positive regulation of DN
A binding
IDA biological_process
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IMP biological_process
GO:0051591 response to cAMP
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071333 cellular response to gluc
ose stimulus
IEA biological_process
GO:0071398 cellular response to fatt
y acid
IEA biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0000287 magnesium ion binding
IDA molecular_function
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic DNA binding
IEA molecular_function
GO:0002762 negative regulation of my
eloid leukocyte different
iation
IEA biological_process
GO:0003697 single-stranded DNA bindi
ng
IEA molecular_function
GO:0004536 deoxyribonuclease activit
y
IDA molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
IEA molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
IEA molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
IEA molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
EXP molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
EXP molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
IDA molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
EXP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IDA molecular_function
GO:0005525 GTP binding
IDA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
TAS cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
TAS cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005741 mitochondrial outer membr
ane
IEA cellular_component
GO:0005813 centrosome
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005882 intermediate filament
IEA cellular_component
GO:0006163 purine nucleotide metabol
ic process
IBA biological_process
GO:0006165 nucleoside diphosphate ph
osphorylation
IEA biological_process
GO:0006165 nucleoside diphosphate ph
osphorylation
IEA biological_process
GO:0006183 GTP biosynthetic process
IEA biological_process
GO:0006220 pyrimidine nucleotide met
abolic process
IBA biological_process
GO:0006228 UTP biosynthetic process
IEA biological_process
GO:0006241 CTP biosynthetic process
IEA biological_process
GO:0006259 DNA metabolic process
IEA biological_process
GO:0006897 endocytosis
IEA biological_process
GO:0007399 nervous system developmen
t
IEA biological_process
GO:0007595 lactation
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
TAS biological_process
GO:0009117 nucleotide metabolic proc
ess
IEA biological_process
GO:0009142 nucleoside triphosphate b
iosynthetic process
IBA biological_process
GO:0010629 negative regulation of ge
ne expression
IEA biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
IEA biological_process
GO:0014075 response to amine
IEA biological_process
GO:0015949 nucleobase-containing sma
ll molecule interconversi
on
TAS biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0019215 intermediate filament bin
ding
IEA molecular_function
GO:0019899 enzyme binding
IEA molecular_function
GO:0019901 protein kinase binding
IEA molecular_function
GO:0021766 hippocampus development
IEA biological_process
GO:0030154 cell differentiation
IEA biological_process
GO:0030879 mammary gland development
IEA biological_process
GO:0032587 ruffle membrane
IDA cellular_component
GO:0033574 response to testosterone
IEA biological_process
GO:0035690 cellular response to drug
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043015 gamma-tubulin binding
IEA molecular_function
GO:0043024 ribosomal small subunit b
inding
IPI molecular_function
GO:0043209 myelin sheath
IEA cellular_component
GO:0043388 positive regulation of DN
A binding
IDA biological_process
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0046872 metal ion binding
IEA molecular_function
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IMP biological_process
GO:0051591 response to cAMP
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071333 cellular response to gluc
ose stimulus
IEA biological_process
GO:0071398 cellular response to fatt
y acid
IEA biological_process
GO:0000287 magnesium ion binding
IDA molecular_function
GO:0004536 deoxyribonuclease activit
y
IDA molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
EXP molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
EXP molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
IDA molecular_function
GO:0004550 nucleoside diphosphate ki
nase activity
EXP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IDA molecular_function
GO:0005525 GTP binding
IDA molecular_function
GO:0005634 nucleus
TAS cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
TAS cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006163 purine nucleotide metabol
ic process
IBA biological_process
GO:0006220 pyrimidine nucleotide met
abolic process
IBA biological_process
GO:0008285 negative regulation of ce
ll proliferation
TAS biological_process
GO:0009142 nucleoside triphosphate b
iosynthetic process
IBA biological_process
GO:0015949 nucleobase-containing sma
ll molecule interconversi
on
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0032587 ruffle membrane
IDA cellular_component
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043024 ribosomal small subunit b
inding
IPI molecular_function
GO:0043388 positive regulation of DN
A binding
IDA biological_process
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa00230  Purine metabolism
hsa00240  Pyrimidine metabolism

Diseases

Associated diseases References
Cancer PMID: 8297127
Endometriosis PMID: 9458291
Neuroblastoma OMIM: 156490
Endometriosis INFBASE24133580

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
9458291 Endometrio
sis

16 patients wit
h histologicall
y verified pelv
ic endometriosi
s
c-myc
c-erb-B2
nm23 and p53
Show abstract
24133580 Endometrio
sis


NME1
VEGF
IL-8
Show abstract
23856325 Endometrio
sis


Female infertility
Show abstract