Home |
Help |
Advanced search
2024-04-19 17:55:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_013330 1646 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens NME/NM23 family member 7 (NME7), transcript variant 1,
mRNA.
ACCESSION NM_013330
VERSION NM_013330.3 GI:37574616
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1646)
AUTHORS Heit,J.A., Armasu,S.M., Asmann,Y.W., Cunningham,J.M.,
Matsumoto,M.E., Petterson,T.M. and De Andrade,M.
TITLE A genome-wide association study of venous thromboembolism
identifies risk variants in chromosomes 1q24.2 and 9q
JOURNAL J. Thromb. Haemost. 10 (8), 1521-1531 (2012)
PUBMED 22672568
REFERENCE 2 (bases 1 to 1646)
AUTHORS Smith,N.L., Huffman,J.E., Strachan,D.P., Huang,J., Dehghan,A.,
Trompet,S., Lopez,L.M., Shin,S.Y., Baumert,J., Vitart,V., Bis,J.C.,
Wild,S.H., Rumley,A., Yang,Q., Uitterlinden,A.G., Stott,D.J.,
Davies,G., Carter,A.M., Thorand,B., Polasek,O., McKnight,B.,
Campbell,H., Rudnicka,A.R., Chen,M.H., Buckley,B.M., Harris,S.E.,
Peters,A., Pulanic,D., Lumley,T., de Craen,A.J., Liewald,D.C.,
Gieger,C., Campbell,S., Ford,I., Gow,A.J., Luciano,M.,
Porteous,D.J., Guo,X., Sattar,N., Tenesa,A., Cushman,M.,
Slagboom,P.E., Visscher,P.M., Spector,T.D., Illig,T., Rudan,I.,
Bovill,E.G., Wright,A.F., McArdle,W.L., Tofler,G., Hofman,A.,
Westendorp,R.G., Starr,J.M., Grant,P.J., Karakas,M., Hastie,N.D.,
Psaty,B.M., Wilson,J.F., Lowe,G.D., O'Donnell,C.J., Witteman,J.C.,
Jukema,J.W., Deary,I.J., Soranzo,N., Koenig,W. and Hayward,C.
TITLE Genetic predictors of fibrin D-dimer levels in healthy adults
JOURNAL Circulation 123 (17), 1864-1872 (2011)
PUBMED 21502573
REFERENCE 3 (bases 1 to 1646)
AUTHORS Germain,M., Saut,N., Greliche,N., Dina,C., Lambert,J.C., Perret,C.,
Cohen,W., Oudot-Mellakh,T., Antoni,G., Alessi,M.C., Zelenika,D.,
Cambien,F., Tiret,L., Bertrand,M., Dupuy,A.M., Letenneur,L.,
Lathrop,M., Emmerich,J., Amouyel,P., Tregouet,D.A. and Morange,P.E.
TITLE Genetics of venous thrombosis: insights from a new genome wide
association study
JOURNAL PLoS ONE 6 (9), E25581 (2011)
PUBMED 21980494
REFERENCE 4 (bases 1 to 1646)
AUTHORS Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
TITLE Follow-up of a major linkage peak on chromosome 1 reveals
suggestive QTLs associated with essential hypertension: GenNet
study
JOURNAL Eur. J. Hum. Genet. 17 (12), 1650-1657 (2009)
PUBMED 19536175
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 1646)
AUTHORS Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
and Wijmenga,C.
TITLE Coeliac disease-associated risk variants in TNFAIP3 and REL
implicate altered NF-kappaB signalling
JOURNAL Gut 58 (8), 1078-1083 (2009)
PUBMED 19240061
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 1646)
AUTHORS Cheung,C.L., Chan,B.Y., Chan,V., Ikegawa,S., Kou,I., Ngai,H.,
Smith,D., Luk,K.D., Huang,Q.Y., Mori,S., Sham,P.C. and Kung,A.W.
TITLE Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
genetic association with bone mineral density variation
JOURNAL Hum. Mol. Genet. 18 (4), 679-687 (2009)
PUBMED 19064610
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 7 (bases 1 to 1646)
AUTHORS Desvignes,T., Pontarotti,P., Fauvel,C. and Bobe,J.
TITLE Nme protein family evolutionary history, a vertebrate perspective
JOURNAL BMC Evol. Biol. 9, 256 (2009)
PUBMED 19852809
REMARK Publication Status: Online-Only
REFERENCE 8 (bases 1 to 1646)
AUTHORS Hippe,H.J., Luedde,M., Lutz,S., Koehler,H., Eschenhagen,T.,
Frey,N., Katus,H.A., Wieland,T. and Niroomand,F.
TITLE Regulation of cardiac cAMP synthesis and contractility by
nucleoside diphosphate kinase B/G protein beta gamma dimer
complexes
JOURNAL Circ. Res. 100 (8), 1191-1199 (2007)
PUBMED 17363702
REMARK GeneRIF: Compared with wild-type betagamma nucleoside diphosphate
kinase overexpression of Gbeta nucleoside diphosphate kinase
suppressed basal cAMP formation up to 55%.
REFERENCE 9 (bases 1 to 1646)
AUTHORS Lacombe,M.L., Milon,L., Munier,A., Mehus,J.G. and Lambeth,D.O.
TITLE The human Nm23/nucleoside diphosphate kinases
JOURNAL J. Bioenerg. Biomembr. 32 (3), 247-258 (2000)
PUBMED 11768308
REMARK Review article
REFERENCE 10 (bases 186 to 1621)
AUTHORS Mehus,J.G. and Lambeth,D.O.
TITLE Direct Submission
JOURNAL Submitted (20-MAY-1999) Biochemistry and Molecular Biology, UND
School of Medicine, 501 North Columbia Road, Grand Forks, ND 58201,
USA
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
CD107958.1, AF153191.2 and BC006983.1.
On Oct 8, 2003 this sequence version replaced gi:7242158.
##Evidence-Data-START##
Transcript exon combination :: BC006983.1, AF153191.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-146 CD107958.1 44-189
147-1621 AF153191.2 1-1475
1622-1646 BC006983.1 1468-1492
FEATURES Location/Qualifiers
source 1..1646
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q24"
gene 1..1646
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/note="NME/NM23 family member 7"
/db_xref="GeneID:29922"
/db_xref="HGNC:20461"
/db_xref="HPRD:11394"
/db_xref="MIM:613465"
exon 1..241
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
misc_feature 224..226
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/note="upstream in-frame stop codon"
CDS 239..1369
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/EC_number="2.7.4.6"
/note="isoform a is encoded by transcript variant 1;
nucleoside diphosphate kinase 7; nucleoside-diphosphate
kinase 7; NDK 7; NDP kinase 7; non-metastatic cells 7,
protein expressed in (nucleoside-diphosphate kinase)"
/codon_start=1
/product="nucleoside diphosphate kinase 7 isoform a"
/protein_id="NP_037462.1"
/db_xref="GI:7019465"
/db_xref="CCDS:CCDS1277.1"
/db_xref="GeneID:29922"
/db_xref="HGNC:20461"
/db_xref="HPRD:11394"
/db_xref="MIM:613465"
/translation="
MNHSERFVFIAEWYDPNASLLRRYELLFYPGDGSVEMHDVKNHRTFLKRTKYDNLHLEDLFIGNKVNVFSRQLVLIDYGDQYTARQLGSRKEKTLALIKPDAISKAGEIIEIINKAGFTITKLKMMMLSRKEALDFHVDHQSRPFFNELIQFITTGPIIAMEILRDDAICEWKRLLGPANSGVARTDASESIRALFGTDGIRNAAHGPDSFASAAREMELFFPSSGGCGPANTAKFTNCTCCIVKPHAVSEGLLGKILMAIRDAGFEISAMQMFNMDRVNVEEFYEVYKGVVTEYHDMVTEMYSGPCVAMEIQQNNATKTFREFCGPADPEIARHLRPGTLRAIFGKTKIQNAVHCTDLPEDGLLEVQYFFKILDN
"
misc_feature 245..511
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/note="Domains in hypothetical proteins in Drosophila, C.
elegans and mammals. Occurs singly in some nucleoside
diphosphate kinases; Region: DM10; smart00676"
/db_xref="CDD:128921"
misc_feature 512..904
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/note="Nucleoside diphosphate kinase 7 domain A (NDPk7A):
The nm23-H7 class of nucleoside diphosphate kinase (NDPk7)
consists of an N-terminal DM10 domain and two functional
catalytic NDPk modules, NDPk7A and NDPk7B. The function of
the DM10 domain, which also...; Region: NDPk7A; cd04415"
/db_xref="CDD:58530"
misc_feature order(533..535,647..649,671..673,755..757,773..775,
815..817,845..847,854..856,860..865,887..889)
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/note="active site"
/db_xref="CDD:58530"
misc_feature order(545..547,554..562,569..571,578..580,605..613)
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/note="multimer interface [polypeptide binding]; other
site"
/db_xref="CDD:58530"
misc_feature 950..1351
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/note="Nucleoside diphosphate kinase 7 domain B (NDPk7B):
The nm23-H7 class of nucleoside diphosphate kinase (NDPk7)
consists of an N-terminal DM10 domain and two functional
catalytic NDPk modules, NDPk7A and NDPk7B. The function of
the DM10 domain, which also...; Region: NDPk7B; cd04412"
/db_xref="CDD:58527"
misc_feature order(971..973,1091..1093,1118..1120,1202..1204,
1220..1222,1262..1264,1292..1294,1301..1303,1307..1312,
1334..1336)
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/note="active site"
/db_xref="CDD:58527"
misc_feature order(983..985,998..1006,1013..1015,1022..1024,1049..1057)
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/note="multimer interface [polypeptide binding]; other
site"
/db_xref="CDD:58527"
exon 242..349
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
variation 259
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/replace="c"
/replace="t"
/db_xref="dbSNP:1140523"
exon 350..516
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
exon 517..627
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
exon 628..678
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
exon 679..886
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
exon 887..992
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
exon 993..1057
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
exon 1058..1126
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
exon 1127..1228
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
exon 1229..1336
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
exon 1337..1623
/gene="NME7"
/gene_synonym="MN23H7; nm23-H7"
/inference="alignment:Splign:1.39.8"
ORIGIN
acagaataatggcgtctcgtagccccaggcgacagcgtggaggggcgggtctgtcgattggatgaacgcagctgagattactcccagccactaaggacgaagaggtggggcggtggcgtcccacgcctcgtgcgacagtgggcggggctttgttgcctgagtaaccgtatgatggtggtggtggtggtgtcttcctgtctcaacgatacctattttctagtgctgagatcctgagacaatgaatcatagtgaaagattcgttttcattgcagagtggtatgatccaaatgcttcacttcttcgacgttatgagcttttattttacccaggggatggatctgttgaaatgcatgatgtaaagaatcatcgcacctttttaaagcggaccaaatatgataacctgcacttggaagatttatttataggcaacaaagtgaatgtcttttctcgacaactggtattaattgactatggggatcaatatacagctcgccagctgggcagtaggaaagaaaaaacgctagccctaattaaaccagatgcaatatcaaaggctggagaaataattgaaataataaacaaagctggatttactataaccaaactcaaaatgatgatgctttcaaggaaagaagcattggattttcatgtagatcaccagtcaagaccctttttcaatgagctgatccagtttattacaactggtcctattattgccatggagattttaagagatgatgctatatgtgaatggaaaagactgctgggacctgcaaactctggagtggcacgcacagatgcttctgaaagcattagagccctctttggaacagatggcataagaaatgcagcgcatggccctgattcttttgcttctgcggccagagaaatggagttgttttttccttcaagtggaggttgtgggccggcaaacactgctaaatttactaattgtacctgttgcattgttaaaccccatgctgtcagtgaaggactgttgggaaagatcctgatggctatccgagatgcaggttttgaaatctcagctatgcagatgttcaatatggatcgggttaatgttgaggaattctatgaagtttataaaggagtagtgaccgaatatcatgacatggtgacagaaatgtattctggcccttgtgtagcaatggagattcaacagaataatgctacaaagacatttcgagaattttgtggacctgctgatcctgaaattgcccggcatttacgccctggaactctcagagcaatctttggtaaaactaagatccagaatgctgttcactgtactgatctgccagaggatggcctattagaggttcaatacttcttcaagatcttggataattagtggtgtggaaagtaaagaagtcacaggttgggacatttagacaagagtgaatcacacacgaggaatgtgttcattcttttattgtccgttgttttaacctgactgaatacaagatcaacaagagcactgtactcctggcaattattacatatgttagaacatggattttgcactgtagacaacatttaacaccagtctatggggtactgcattgctttttataaagttcaaaataaagatttattttcaaacaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:29922 -> Molecular function: GO:0004550 [nucleoside diphosphate kinase activity] evidence: IEA
GeneID:29922 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:29922 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:29922 -> Biological process: GO:0003351 [epithelial cilium movement] evidence: IEA
GeneID:29922 -> Biological process: GO:0006183 [GTP biosynthetic process] evidence: IEA
GeneID:29922 -> Biological process: GO:0006228 [UTP biosynthetic process] evidence: IEA
GeneID:29922 -> Biological process: GO:0006241 [CTP biosynthetic process] evidence: IEA
GeneID:29922 -> Biological process: GO:0007368 [determination of left/right symmetry] evidence: IEA
GeneID:29922 -> Biological process: GO:0007420 [brain development] evidence: IEA
GeneID:29922 -> Biological process: GO:0042073 [intraflagellar transport] evidence: IEA
GeneID:29922 -> Biological process: GO:0060830 [ciliary receptor clustering involved in smoothened signaling pathway] evidence: IEA
GeneID:29922 -> Biological process: GO:0060972 [left/right pattern formation] evidence: IEA
GeneID:29922 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_037462 -> EC 2.7.4.6
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.