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2024-04-27 04:45:48, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005793 1189 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens NME/NM23 nucleoside diphosphate kinase 6 (NME6), mRNA.
ACCESSION NM_005793
VERSION NM_005793.3 GI:38564323
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 1189)
AUTHORS Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
TITLE Genetic variants in nuclear-encoded mitochondrial genes influence
AIDS progression
JOURNAL PLoS ONE 5 (9), E12862 (2010)
PUBMED 20877624
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 1189)
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 3 (bases 1 to 1189)
AUTHORS Tsuiki,H., Nitta,M., Furuya,A., Hanai,N., Fujiwara,T., Inagaki,M.,
Kochi,M., Ushio,Y., Saya,H. and Nakamura,H.
TITLE A novel human nucleoside diphosphate (NDP) kinase, Nm23-H6,
localizes in mitochondria and affects cytokinesis
JOURNAL J. Cell. Biochem. 76 (2), 254-269 (1999)
PUBMED 10618642
REFERENCE 4 (bases 1 to 1189)
AUTHORS Mehus,J.G., Deloukas,P. and Lambeth,D.O.
TITLE NME6: a new member of the nm23/nucleoside diphosphate kinase gene
family located on human chromosome 3p21.3
JOURNAL Hum. Genet. 104 (6), 454-459 (1999)
PUBMED 10453732
COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final
NCBI review. The reference sequence was derived from BC012828.2.
On Nov 27, 2003 this sequence version replaced gi:33695082.
Summary: Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as
NME6, are ubiquitous enzymes that catalyze transfer of
gamma-phosphates, via a phosphohistidine intermediate, between
nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al.,
1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010].
##Evidence-Data-START##
Transcript exon combination :: BC001808.2, AF051941.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..1189
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p21"
gene 1..1189
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/note="NME/NM23 nucleoside diphosphate kinase 6"
/db_xref="GeneID:10201"
/db_xref="HGNC:20567"
/db_xref="HPRD:09219"
/db_xref="MIM:608294"
exon 1..63
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/inference="alignment:Splign:1.39.8"
misc_feature 8..10
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/note="upstream in-frame stop codon"
CDS 47..631
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/EC_number="2.7.4.6"
/note="inhibitor of p53-induced apoptosis-alpha; NDP
kinase 6; non-metastatic cells 6, protein expressed in
(nucleoside-diphosphate kinase)"
/codon_start=1
/product="nucleoside diphosphate kinase 6"
/protein_id="NP_005784.1"
/db_xref="GI:5031951"
/db_xref="CCDS:CCDS2763.1"
/db_xref="GeneID:10201"
/db_xref="HGNC:20567"
/db_xref="HPRD:09219"
/db_xref="MIM:608294"
/translation="
MTQNLGSEMASILRSPQALQLTLALIKPDAVAHPLILEAVHQQILSNKFLIVRMRELLWRKEDCQRFYREHEGRFFYQRLVEFMASGPIRAYILAHKDAIQLWRTLMGPTRVFRARHVAPDSIRGSFGLTDTRNTTHGSDSVVSASREIAAFFPDFSEQRWYEEEEPQLRCGPVCYSPEGGVHYVAGTGGLGPA
"
misc_feature 104..508
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/note="Nucleoside diphosphate kinase 6 (NDP kinase 6,
NDPk6, NM23-H6; NME6; Inhibitor of p53-induced
apoptosis-alpha, IPIA-alpha): The nm23-H6 gene encoding
NDPk6 is expressed mainly in mitochondria, but also found
at a lower level in most tissues. NDPk6 has...; Region:
NDPk6; cd04414"
/db_xref="CDD:58529"
misc_feature order(125..127,248..250,272..274,356..358,374..376,
416..418,446..448,455..457,461..466,488..490)
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/note="active site"
/db_xref="CDD:58529"
misc_feature order(137..139,155..163,170..172,179..181,206..214)
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/note="multimer interface [polypeptide binding]; other
site"
/db_xref="CDD:58529"
exon 64..160
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/inference="alignment:Splign:1.39.8"
exon 161..263
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/inference="alignment:Splign:1.39.8"
exon 264..303
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/inference="alignment:Splign:1.39.8"
exon 304..464
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/inference="alignment:Splign:1.39.8"
exon 465..1182
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/inference="alignment:Splign:1.39.8"
variation 632
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/replace="c"
/replace="t"
/db_xref="dbSNP:11545439"
variation 718
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1134866"
variation 901
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/replace="a"
/replace="g"
/db_xref="dbSNP:3197223"
variation 950
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1134867"
STS 970..1096
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/standard_name="D15S1477"
/db_xref="UniSTS:474482"
variation 1181..1182
/gene="NME6"
/gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
/replace=""
/replace="a"
/db_xref="dbSNP:71074229"
ORIGIN
gacaaggtgaacccgcagccggacttctgctgcactggggctccgaatgacccagaatctggggagtgagatggcctcaatcttgcgaagccctcaggctctccagctcactctagccctgatcaagcctgacgcagtcgcccatccactgattctggaggctgttcatcagcagattctaagcaacaagttcctgattgtacgaatgagagaactactgtggagaaaggaagattgccagaggttttaccgagagcatgaagggcgttttttctatcagaggctggtggagttcatggccagcgggccaatccgagcctacatccttgcccacaaggatgccatccagctctggaggacgctcatgggacccaccagagtgttccgagcacgccatgtggccccagattctatccgtgggagtttcggcctcactgacacccgcaacaccacccatggttcggactctgtggtttcagccagcagagagattgcagccttcttccctgacttcagtgaacagcgctggtatgaggaggaagagccccagttgcgctgtggccctgtgtgctatagcccagagggaggtgtccactatgtagctggaacaggaggcctaggaccagcctgatgcaggtctatgaagaccagtggtagtgcccagacttctcctagacatctagtctaaaacattctcctaggaccagggaagcctggcttacagtgccatttctgctgggcaccaccacctgcctgagggcctagctcaccacagcacatcctccaggatctagccttctatctacctcttctctggaatgtttatggtggttcagaagaatgatgactcctctttgctgagaactgttcatccttcttcaagaagaagcttgccaggccgggcacggtggctcacgcctataatcccagcactttgggaggccgaggcaggcggatcacaaggtcaggaattcgagaccagcctgaccaacatggtgaaaccccatctctactaaaaatacaacaattagccaggcatggtggtgcatgcctgtaatcccagctactcagaggctgaggcaggagaattgcttgaacctgggaggcagagggtgcagtgagccgagatcgtgccattgcactccagcctgggcgacattctgtctcaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10201 -> Molecular function: GO:0004550 [nucleoside diphosphate kinase activity] evidence: IDA
GeneID:10201 -> Molecular function: GO:0005524 [ATP binding] evidence: NAS
GeneID:10201 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:10201 -> Biological process: GO:0006183 [GTP biosynthetic process] evidence: IEA
GeneID:10201 -> Biological process: GO:0006228 [UTP biosynthetic process] evidence: IEA
GeneID:10201 -> Biological process: GO:0006241 [CTP biosynthetic process] evidence: IEA
GeneID:10201 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:10201 -> Biological process: GO:0009142 [nucleoside triphosphate biosynthetic process] evidence: NAS
GeneID:10201 -> Biological process: GO:0030308 [negative regulation of cell growth] evidence: IDA
GeneID:10201 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: NAS
GeneID:10201 -> Biological process: GO:0045839 [negative regulation of mitosis] evidence: IDA
GeneID:10201 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_005784 -> EC 2.7.4.6
by
@meso_cacase at
DBCLS
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