Home |
Help |
Advanced search
2024-04-20 07:49:55, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001205019 4590 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.
ACCESSION NM_001205019
VERSION NM_001205019.1 GI:326381122
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 4590)
AUTHORS Ramanjam,V., Delport,S. and Wilmshurst,J.M.
TITLE The diagnostic difficulties of complex glycerol kinase deficiency
JOURNAL J. Child Neurol. 25 (10), 1269-1271 (2010)
PUBMED 20110216
REMARK GeneRIF: Two siblings with the contiguous X-linked gene deletion
syndrome, complex glycerol kinase deficiency, are described. The
elder sibling demonstrates the difficulties diagnosing this rare
condition.
REFERENCE 2 (bases 1 to 4590)
AUTHORS Lu,Y., Dolle,M.E., Imholz,S., van 't Slot,R., Verschuren,W.M.,
Wijmenga,C., Feskens,E.J. and Boer,J.M.
TITLE Multiple genetic variants along candidate pathways influence plasma
high-density lipoprotein cholesterol concentrations
JOURNAL J. Lipid Res. 49 (12), 2582-2589 (2008)
PUBMED 18660489
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 4590)
AUTHORS Zhang,Y.H., Huang,B.L., Jialal,I., Northrup,H., McCabe,E.R. and
Dipple,K.M.
TITLE Asymptomatic isolated human glycerol kinase deficiency associated
with splice-site mutations and nonsense-mediated decay of mutant
RNA
JOURNAL Pediatr. Res. 59 (4 PT 1), 590-592 (2006)
PUBMED 16549535
REMARK GeneRIF: Results suggest that influences on RNA processing and
protein stability represent modifiers of the glycerol kinase
deficiency phenotype.
REFERENCE 4 (bases 1 to 4590)
AUTHORS Ohira,R.H., Dipple,K.M., Zhang,Y.H. and McCabe,E.R.
TITLE Human and murine glycerol kinase: influence of exon 18 alternative
splicing on function
JOURNAL Biochem. Biophys. Res. Commun. 331 (1), 239-246 (2005)
PUBMED 15845384
REMARK GeneRIF: Comparison of expression patterns, as well as enzymatic
characteristics and subcellular localization of alternatively
spliced glycerol kinase isoforms.
REFERENCE 5 (bases 1 to 4590)
AUTHORS Stepanian,S.V., Huyn,S.T., McCabe,E.R. and Dipple,K.M.
TITLE Characterization of the human glycerol kinase promoter:
identification of a functional HNF-4alpha binding site and evidence
for transcriptional activation
JOURNAL Mol. Genet. Metab. 80 (4), 412-418 (2003)
PUBMED 14654354
REMARK GeneRIF: a functional HNF-4alpha binding site in the first 500 bp
of the 5(') upstream region is important for increased levels of
glycerol kinase expression
REFERENCE 6 (bases 1 to 4590)
AUTHORS Sargent,C.A., Young,C., Marsh,S., Ferguson-Smith,M.A. and
Affara,N.A.
TITLE The glycerol kinase gene family: structure of the Xp gene, and
related intronless retroposons
JOURNAL Hum. Mol. Genet. 3 (8), 1317-1324 (1994)
PUBMED 7987308
REFERENCE 7 (bases 1 to 4590)
AUTHORS Guo,W., Worley,K., Adams,V., Mason,J., Sylvester-Jackson,D.,
Zhang,Y.H., Towbin,J.A., Fogt,D.D., Madu,S., Wheeler,D.A. et al.
TITLE Genomic scanning for expressed sequences in Xp21 identifies the
glycerol kinase gene
JOURNAL Nat. Genet. 4 (4), 367-372 (1993)
PUBMED 8401584
REFERENCE 8 (bases 1 to 4590)
AUTHORS Love,D.R., Bloomfield,J.F., Kenwrick,S.J., Yates,J.R. and
Davies,K.E.
TITLE Physical mapping distal to the DMD locus
JOURNAL Genomics 8 (1), 106-112 (1990)
PUBMED 2081587
REFERENCE 9 (bases 1 to 4590)
AUTHORS Pillers,D.A., Weleber,R.G., Powell,B.R., Hanna,C.E., Magenis,R.E.
and Buist,N.R.
TITLE Aland Island eye disease (Forsius-Eriksson ocular albinism) and an
Xp21 deletion in a patient with Duchenne muscular dystrophy,
glycerol kinase deficiency, and congenital adrenal hypoplasia
JOURNAL Am. J. Med. Genet. 36 (1), 23-28 (1990)
PUBMED 2159212
REFERENCE 10 (bases 1 to 4590)
AUTHORS Kaneko,M., Kurokawa,M. and Ishibashi,S.
TITLE Binding and function of mitochondrial glycerol kinase in comparison
with those of mitochondrial hexokinase
JOURNAL Arch. Biochem. Biophys. 237 (1), 135-141 (1985)
PUBMED 2982325
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC042421.1, AK313215.1,
AK294938.1, AA689298.1, AC112496.2 and AW300142.1.
This sequence is a reference standard in the RefSeqGene project.
Summary: The protein encoded by this gene belongs to the FGGY
kinase family. This protein is a key enzyme in the regulation of
glycerol uptake and metabolism. It catalyzes the phosphorylation of
glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations
in this gene are associated with glycerol kinase deficiency (GKD).
Alternatively spliced transcript variants encoding different
isoforms have been found for this gene. [provided by RefSeq, Mar
2011].
Transcript Variant: This variant (4) contains an additional
in-frame coding exon at the 3' end compared to variant 1. This
results in a longer isoform (d) with a protein segment not found in
isoform a. The exon combination used for this variant is inferred,
however, there is cross-species evidence for the existence of such
a variant in mouse (AK044308:BAC31861) and cow
(BC122692.1:AAI22693.1).
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
RNAseq introns :: mixed/partial sample support ERS025081, ERS025082
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-415 BC042421.1 2-416
416-908 AK313215.1 352-844
909-1416 AK294938.1 944-1451
1417-1761 BC042421.1 1418-1762
1762-2197 AK294938.1 1797-2232
2198-3279 BC042421.1 2111-3192
3280-3725 AA689298.1 23-468 c
3726-4557 AC112496.2 126492-127323 c
4558-4590 AW300142.1 1-33 c
FEATURES Location/Qualifiers
source 1..4590
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp21.3"
gene 1..4590
/gene="GK"
/gene_synonym="GK1; GKD"
/note="glycerol kinase"
/db_xref="GeneID:2710"
/db_xref="HGNC:4289"
/db_xref="MIM:300474"
exon 1..257
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
misc_feature 18..20
/gene="GK"
/gene_synonym="GK1; GKD"
/note="upstream in-frame stop codon"
variation 33
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="g"
/db_xref="dbSNP:112897079"
variation 34
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="g"
/db_xref="dbSNP:113093297"
variation 61
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="g"
/db_xref="dbSNP:113441127"
variation 157
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:377111827"
variation 162
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:370271242"
CDS 180..1859
/gene="GK"
/gene_synonym="GK1; GKD"
/EC_number="2.7.1.30"
/note="isoform d is encoded by transcript variant 4;
ATP:glycerol 3-phosphotransferase; glycerokinase"
/codon_start=1
/product="glycerol kinase isoform d"
/protein_id="NP_001191948.1"
/db_xref="GI:326381123"
/db_xref="GeneID:2710"
/db_xref="HGNC:4289"
/db_xref="MIM:300474"
/translation="
MAASKKAVLGPLVGAVDQGTSSTRFLVFNSKTAELLSHHQVEIKQEFPREGWVEQDPKEILHSVYECIEKTCEKLGQLNIDISNIKAIGVSNQRETTVVWDKITGEPLYNAVVWLDLRTQSTVESLSKRIPGNNNFVKSKTGLPLSTYFSAVKLRWLLDNVRKVQKAVEEKRALFGTIDSWLIWSLTGGVNGGVHCTDVTNASRTMLFNIHSLEWDKQLCEFFGIPMEILPNVRSSSEIYGLMKISHSVKAGALEGVPISGCLGDQSAALVGQMCFQIGQAKNTYGTGCFLLCNTGHKCVFSDHGLLTTVAYKLGRDKPVYYALEGSVAIAGAVIRWLRDNLGIIKTSEEIEKLAKEVGTSYGCYFVPAFSGLYAPYWEPSARGIICGLTQFTNKCHIAFAALEAVCFQTREILDAMNRDCGIPLSHLQVDGGMTSNKILMQLQADILYIPVVKPSMPETTALGAAMAAGAAEGVGVWSLEPEDLSAVTMERFEPQINAEESEIRYSTWKKAVMKSMGWVTTQSPESGDPSIFCSLPLGFFIVSSMVMLIGARYISGIP
"
misc_feature 210..1736
/gene="GK"
/gene_synonym="GK1; GKD"
/note="Metazoan glycerol kinase 1 and 3-like proteins;
belongs to the FGGY family of carbohydrate kinases;
Region: FGGY_GK1-3_metazoa; cd07792"
/db_xref="CDD:212664"
misc_feature 210..1736
/gene="GK"
/gene_synonym="GK1; GKD"
/note="glycerol kinase; Region: glycerol_kin; TIGR01311"
/db_xref="CDD:162296"
misc_feature order(213..218,222..224,228..230,237..242,249..257,
261..266,276..278,282..284,330..332,435..452,459..461,
519..530,537..542,549..551,591..596,600..611,615..617,
621..626,774..779,786..791,801..803,807..812,816..818,
882..896,951..953,957..962,1038..1040,1047..1049,
1071..1082,1092..1118,1137..1139,1143..1145,1152..1154,
1158..1169,1185..1187,1287..1292,1311..1313,1317..1322,
1326..1328,1554..1556,1560..1568,1572..1598,1602..1607,
1632..1637)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="putative N- and C-terminal domain interface
[polypeptide binding]; other site"
/db_xref="CDD:212664"
misc_feature order(228..230,234..245,249..251,456..464,519..521,
621..623,972..977,1032..1040,1047..1049,1173..1178,
1182..1187,1221..1226,1230..1232,1473..1481,1488..1490)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="active site"
/db_xref="CDD:212664"
misc_feature order(228..230,234..245,249..251,972..974,1032..1040,
1173..1178,1182..1187,1221..1226,1230..1232,1473..1481,
1488..1490)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="MgATP binding site [chemical binding]; other site"
/db_xref="CDD:212664"
misc_feature order(228..230,237..239,972..974)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="catalytic site [active]"
/db_xref="CDD:212664"
misc_feature order(228..230,972..974)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="metal binding site [ion binding]; metal-binding
site"
/db_xref="CDD:212664"
misc_feature order(300..302,351..356,360..365,372..377,384..389,
495..497,732..734,741..743,909..911,930..932)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="putative homotetramer interface [polypeptide
binding]; other site"
/db_xref="CDD:212664"
misc_feature order(318..320,327..329,336..338,522..524,1167..1169,
1176..1178,1188..1190,1197..1199,1266..1268,1272..1274,
1287..1289,1323..1352,1362..1367,1371..1373,1701..1703)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="putative homodimer interface [polypeptide binding];
other site"
/db_xref="CDD:212664"
misc_feature order(459..464,519..521,621..623,972..974)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="putative glycerol binding site [chemical binding];
other site"
/db_xref="CDD:212664"
variation 223
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:201406258"
exon 258..331
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
exon 332..438
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 344
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:34795481"
variation 365
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:45537438"
variation 416
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:17857267"
exon 439..516
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 445
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:368340300"
variation 511
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:201622490"
exon 517..593
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 551
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:149553741"
variation 570
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:17854203"
exon 594..731
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 669
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:199782390"
variation 680
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:17854202"
exon 732..841
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 734
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:148306668"
variation 752
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:367693560"
exon 842..908
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
exon 909..926
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 919
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:369560582"
exon 927..962
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 950
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:61730292"
variation 962
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:201629061"
exon 963..1030
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 967
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:61739587"
exon 1031..1073
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1059
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:132630331"
exon 1074..1154
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1091
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:141460778"
variation 1121
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:367704871"
exon 1155..1233
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1186
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371481560"
variation 1196
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:146346162"
variation 1229
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:200898041"
exon 1234..1330
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
STS 1258..1375
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="GK"
/db_xref="UniSTS:506551"
variation 1277
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:200152844"
variation 1292
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:139652893"
exon 1331..1415
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1389
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:61740818"
exon 1416..1536
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1429
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:61730293"
variation 1434
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:132630329"
variation 1446
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:113389040"
variation 1516
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:132630328"
variation 1533
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:375131981"
exon 1537..1680
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1578
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:369956146"
variation 1602
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:144409441"
variation 1605
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:61742225"
variation 1628
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:373405873"
variation 1655
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:370464342"
exon 1681..1761
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1687
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:146142647"
variation 1703
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:61730295"
variation 1704
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:132630330"
variation 1727
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:377416052"
exon 1762..1848
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1772
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:377501703"
exon 1849..4579
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1870
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:1803659"
STS 1971..2147
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH16"
/db_xref="UniSTS:4226"
polyA_signal 2014..2019
/gene="GK"
/gene_synonym="GK1; GKD"
variation 2049
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:182551917"
polyA_site 2051
/gene="GK"
/gene_synonym="GK1; GKD"
variation 2060
/gene="GK"
/gene_synonym="GK1; GKD"
/replace=""
/replace="t"
/db_xref="dbSNP:34867477"
STS 2078..2139
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="GDB:655772"
/db_xref="UniSTS:52343"
variation 2199
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:3931219"
variation 2200
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:187871122"
STS 2279..2360
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH92654"
/db_xref="UniSTS:90021"
STS 2605..2739
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH38757"
/db_xref="UniSTS:86741"
polyA_signal 2804..2809
/gene="GK"
/gene_synonym="GK1; GKD"
polyA_site 2830
/gene="GK"
/gene_synonym="GK1; GKD"
variation 2856
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:138317985"
variation 2888
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:201500166"
variation 2971
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:5972215"
variation 3041
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:192553031"
variation 3051
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:111524220"
variation 3103
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73632545"
variation 3126
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5972216"
variation 3138
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:5972217"
variation 3142
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5972218"
variation 3176
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:5972219"
variation 3255
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:5972220"
variation 3271
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142179849"
variation 3284
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5926945"
variation 3293
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5972221"
STS 3330..3477
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH93765"
/db_xref="UniSTS:91920"
variation 3338
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73452162"
variation 3398
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5927597"
variation 3475
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:5972222"
variation 3536
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:377422043"
variation 3642
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5926946"
variation 3645
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="g"
/db_xref="dbSNP:5927598"
polyA_signal 3703..3708
/gene="GK"
/gene_synonym="GK1; GKD"
polyA_site 3731
/gene="GK"
/gene_synonym="GK1; GKD"
variation 3758
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:146509969"
variation 3780
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:187274085"
variation 3799
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:191998784"
variation 3908..3909
/gene="GK"
/gene_synonym="GK1; GKD"
/replace=""
/replace="a"
/db_xref="dbSNP:373925548"
variation 4051
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:140725888"
variation 4081
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2170611"
variation 4084
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:375515904"
variation 4142
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:5927599"
variation 4311
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:28551561"
variation 4318
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:207478216"
variation 4328
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:184459838"
variation 4427
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:189289452"
polyA_signal 4559..4564
/gene="GK"
/gene_synonym="GK1; GKD"
polyA_site 4579
/gene="GK"
/gene_synonym="GK1; GKD"
ORIGIN
gggccggaggggcggggtgagaaggctgcgcgcgggtaaaggggccgcctcgagcgcggtccgagcgttcagcggacgcgcgcggcctcgatctctggactcgtcacctgcccctccccctcccgccgccgtcacccaggaaaccggccgcaatcgccggccgacctgaagctggtttcatggcagcctcaaagaaggcagttttggggccattggtgggggcggtggaccagggcaccagttcgacgcgctttttggttttcaattcaaaaacagctgaactacttagtcatcatcaagtagaaataaaacaagagttcccaagagaaggatgggtggaacaggaccctaaggaaattctacattctgtctatgagtgtatagagaaaacatgtgagaaacttggacagctcaatattgatatttccaacataaaagctattggtgtcagcaaccagagggaaaccactgtagtctgggacaagataactggagagcctctctacaatgctgtggtgtggcttgatctaagaacccagtctaccgttgagagtcttagtaaaagaattccaggaaataataactttgtcaagtccaagacaggccttccacttagcacttacttcagtgcagtgaaacttcgttggctccttgacaatgtgagaaaagttcaaaaggccgttgaagaaaaacgagctctttttgggactattgattcatggcttatttggagtttgacaggaggagtcaatggaggtgtccactgtacagatgtaacaaatgcaagtaggactatgcttttcaacattcattctttggaatgggataaacaactctgcgaattttttggaattccaatggaaattcttccaaatgtccggagttcttctgagatctatggcctaatgaaaatctctcatagcgtgaaagctggggccttggaaggtgtgccaatatctgggtgtttaggggaccagtctgctgcattggtgggacaaatgtgcttccagattggacaagccaaaaatacgtatggaacaggatgtttcttactatgtaatacaggccataagtgtgtattttctgatcatggccttctcaccacagtggcttacaaacttggcagagacaaaccagtatattatgctttggaaggttctgtagctatagctggtgctgttattcgctggctaagagacaatcttggaattataaagacctcagaagaaattgaaaaacttgctaaagaagtaggtacttcttatggctgctacttcgtcccagcattttcggggttatatgcaccttattgggagcccagcgcaagagggataatctgtggactcactcagttcaccaataaatgccatattgcttttgctgcattagaagctgtttgtttccaaactcgagagattttggatgccatgaatcgagactgtggaattccactcagtcatttgcaggtagatggaggaatgaccagcaacaaaattcttatgcagctacaagcagacattctgtatataccagtagtgaagccctcaatgcccgaaaccactgcactgggtgcggctatggcggcaggggctgcagaaggagtcggcgtatggagtctcgaacccgaggatttgtctgccgtcacgatggagcggtttgaacctcagattaatgcggaggaaagtgaaattcgttattctacatggaagaaagctgtgatgaagtcaatgggttgggttacaactcaatctccagaaagtggtgaccctagtatcttctgtagtctgcccttgggcttttttatagtgagtagcatggtaatgttaatcggagcaaggtacatctcaggtattccataaaacctaccaactcatggattcccaagatgtgagctttttacataatgaaagaacccagcaattctgtctcttaatgcaatgacactattcatagactttgattttatttataagccacttgctgcatgaccctccaagtagacctgtggcttaaaataaagaaaatgcagcaaaaagaatgctatagaaatatttggtggttttttttttttttaaacatccacagttaaggttgggccagctacctttggggctgaccccctccattgccataacatcctgctccattccctctaagatgtaggaagaattcggatccttaccattggaatcttccatcgaacatactcaaacacttttggaccaggatttgagtctctgcatgacatatacttgattaaaaggttattactaacctgttaaaaatcagcagctctttgcttttaacagacaccctaaaagtcttcttttctacatagttgaagacagcaacatcttcactgaatgtttgaatagaaacctctactaaattattaaaatagacatttagtgttctcacagcttggatatttttctgaaaagttatttgccaaaactgaaatccttcagatgttttccatggtcccactaattataatgactttctgtctggatcttataggaaaagatactttcttttttcttccatctttcctttttatattttttactttgtatgtataacatacatgcctatatattttatacactgagggtagcccatttataaattaagagcacattatattcagaaggttctaacagggctggtcttaagtgaaccactgtgtatataaatatgttggaaaacagctgtatacatttttgggcaacggttatgcataatatttaccaggagaatttttttcttaacaagccaacatttaaaatttatgttttatgtcaataaaagaaaatatactttattgtgacttcaactatatttcttatcccttacatttttatttaattgtcttagcttaaaaaaagaagaaactgtggaatactacagtaaatattgttttcaaacacaagcaataattcaaatagttatttttcttttgaattaattttagacatattttggatcctattgaggggataagaggatgtcaaaaaagttaaatacctaagtagaaaaaaatatagaaataaagccaagaatctctttcagttcaaatgttatcaattgttaataagaaattgctatctgggatgacagaattacctctgcttagtatctcattataactgaaagaaggtttatcattacaaataccttccaatgaaaccaagaatttctcaaaatatttaatgtcacatattataagaagttacctaatcctgcttcttaacatcaatttttaaaaatatcttaaaattactttgttttgtagtaaacagtgaagaaaagattgcctcctaattatttttttcaatgagtgctgaatgggaaaacatttatatcttactataaaaggttctgttttgtttggaatcaatggtagctttattgactgttctgattgtgctgtttctaatttattgaatctgctaggttttattgatgcagccaccacttaagtgacataaatattatagaaaggtactgtgaaatgatcactttgtggcaggggtacttttaaacataaatgtttctacaaaagtaggttgagttcattgtaaataattgtgaaagccactgttcaaataattttaagattacattaatttttctataaattggaagatttataaatgtttgaaattgtacacattgatatttaatgacaaatttacttaaaataaattgaccccttgttcttacttgcatttctcatttacagactagaacttagttgaaagttaaattaagaaagatgtttcagaggccgggcacggtggctgacgcctgtaatcccagcactttgggaggccgaggtgggcagatcacctgaggtcaggagttcgggactagcctaaccgacatggagaaaccctatctctactaaaaaaaaaaaaagatgtttcaggacatgtgaaacttggctgttagcgcttgatagggcacactctgaagagttaaccaacagccaaagaagtaatttctgtaatgatgaacactttaatcattctattagaagaaactacactgtcccatctcagcatttgcaaaaaataatgttggtaaggtcagcagccattatcaacagggccttgcatggctaactttgaccaccatttttctctcaacctgataggcaacacctcaatcctttgttctccaactaatcagtaaaataagtaatgcatctctgcttctgtaatgatatcttagaatttttagtatgtttcttttgaagtgcccaaagcccaattctttgggatatcttttgggtatctggtatcatgtgggagtgaagaaagaaagtttttggagaaaccaacaaatgaaagctgtgatagcacagaagctaatggcattgacagtggagtaggtagtatttaatctgtagtgtttacaacatagtagatagaagtacaaaaatttttttaactataactctttaatagcttgttttatctagtaatatttaaataatgaagtttccttgatcctttgcttttgcaacctaacaactttaataataagttcacacaataaacaaattagtagaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:2710 -> Molecular function: GO:0004370 [glycerol kinase activity] evidence: IMP
GeneID:2710 -> Molecular function: GO:0004370 [glycerol kinase activity] evidence: NAS
GeneID:2710 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:2710 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:2710 -> Biological process: GO:0006071 [glycerol metabolic process] evidence: IMP
GeneID:2710 -> Biological process: GO:0006071 [glycerol metabolic process] evidence: NAS
GeneID:2710 -> Biological process: GO:0006641 [triglyceride metabolic process] evidence: IMP
GeneID:2710 -> Biological process: GO:0019432 [triglyceride biosynthetic process] evidence: TAS
GeneID:2710 -> Biological process: GO:0019563 [glycerol catabolic process] evidence: IEA
GeneID:2710 -> Biological process: GO:0044255 [cellular lipid metabolic process] evidence: TAS
GeneID:2710 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:2710 -> Biological process: GO:0046167 [glycerol-3-phosphate biosynthetic process] evidence: IMP
GeneID:2710 -> Cellular component: GO:0005737 [cytoplasm] evidence: NAS
GeneID:2710 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: NAS
GeneID:2710 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001191948 -> EC 2.7.1.30
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.