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2024-04-24 21:49:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000167 4485 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.
ACCESSION NM_000167
VERSION NM_000167.5 GI:326381120
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 4485)
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 4485)
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 4485)
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 4485)
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 4485)
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 4485)
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 4485)
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 4485)
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 4485)
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 4485)
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.
On Mar 18, 2011 this sequence version replaced gi:189409112.
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 (2) lacks an in-frame coding exon
compared to variant 1. This results in a shorter isoform (b)
missing a 6 aa protein segment compared to isoform a.
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##
Transcript exon combination :: L13943.1, BC037549.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##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
909-1798 BC042421.1 928-1817
1799-2092 AK294938.1 1939-2232
2093-3174 BC042421.1 2111-3192
3175-3620 AA689298.1 23-468 c
3621-4452 AC112496.2 126492-127323 c
4453-4485 AW300142.1 1-33 c
FEATURES Location/Qualifiers
source 1..4485
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp21.3"
gene 1..4485
/gene="GK"
/gene_synonym="GK1; GKD"
/note="glycerol kinase"
/db_xref="GeneID:2710"
/db_xref="HGNC:4289"
/db_xref="HPRD:08363"
/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..1754
/gene="GK"
/gene_synonym="GK1; GKD"
/EC_number="2.7.1.30"
/note="isoform b is encoded by transcript variant 2;
ATP:glycerol 3-phosphotransferase; glycerokinase"
/codon_start=1
/product="glycerol kinase isoform b"
/protein_id="NP_000158.1"
/db_xref="GI:4504007"
/db_xref="CCDS:CCDS35224.1"
/db_xref="GeneID:2710"
/db_xref="HGNC:4289"
/db_xref="HPRD:08363"
/db_xref="MIM:300474"
/translation="
MAASKKAVLGPLVGAVDQGTSSTRFLVFNSKTAELLSHHQVEIKQEFPREGWVEQDPKEILHSVYECIEKTCEKLGQLNIDISNIKAIGVSNQRETTVVWDKITGEPLYNAVVWLDLRTQSTVESLSKRIPGNNNFVKSKTGLPLSTYFSAVKLRWLLDNVRKVQKAVEEKRALFGTIDSWLIWSLTGGVNGGVHCTDVTNASRTMLFNIHSLEWDKQLCEFFGIPMEILPNVRSSSEIYGLMKAGALEGVPISGCLGDQSAALVGQMCFQIGQAKNTYGTGCFLLCNTGHKCVFSDHGLLTTVAYKLGRDKPVYYALEGSVAIAGAVIRWLRDNLGIIKTSEEIEKLAKEVGTSYGCYFVPAFSGLYAPYWEPSARGIICGLTQFTNKCHIAFAALEAVCFQTREILDAMNRDCGIPLSHLQVDGGMTSNKILMQLQADILYIPVVKPSMPETTALGAAMAAGAAEGVGVWSLEPEDLSAVTMERFEPQINAEESEIRYSTWKKAVMKSMGWVTTQSPESGIP
"
misc_feature 210..1718
/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..1718
/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..896,933..935,939..944,1020..1022,1029..1031,
1053..1064,1074..1100,1119..1121,1125..1127,1134..1136,
1140..1151,1167..1169,1269..1274,1293..1295,1299..1304,
1308..1310,1536..1538,1542..1550,1554..1580,1584..1589,
1614..1619)
/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..623,954..959,1014..1022,1029..1031,1155..1160,
1164..1169,1203..1208,1212..1214,1455..1463,1470..1472)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="active site"
/db_xref="CDD:212664"
misc_feature order(228..230,234..245,249..251,954..956,1014..1022,
1155..1160,1164..1169,1203..1208,1212..1214,1455..1463,
1470..1472)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="MgATP binding site [chemical binding]; other site"
/db_xref="CDD:212664"
misc_feature order(228..230,237..239,954..956)
/gene="GK"
/gene_synonym="GK1; GKD"
/note="catalytic site [active]"
/db_xref="CDD:212664"
misc_feature order(228..230,954..956)
/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..914)
/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..524,1149..1151,
1158..1160,1170..1172,1179..1181,1248..1250,1254..1256,
1269..1271,1305..1334,1344..1349,1353..1355,1683..1685)
/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..623,954..956)
/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..944
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 932
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:61730292"
variation 944
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:201629061"
exon 945..1012
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 949
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:61739587"
exon 1013..1055
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1041
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:132630331"
exon 1056..1136
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1073
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:141460778"
variation 1103
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:367704871"
exon 1137..1215
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1168
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371481560"
variation 1178
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:146346162"
variation 1211
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:200898041"
exon 1216..1312
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
STS 1240..1357
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="GK"
/db_xref="UniSTS:506551"
variation 1259
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:200152844"
variation 1274
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:139652893"
exon 1313..1397
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1371
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:61740818"
exon 1398..1518
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1411
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:61730293"
variation 1416
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:132630329"
variation 1428
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:113389040"
variation 1498
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:132630328"
variation 1515
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:375131981"
exon 1519..1662
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1560
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:369956146"
variation 1584
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:144409441"
variation 1587
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:61742225"
variation 1610
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:373405873"
variation 1637
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:370464342"
exon 1663..1743
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1669
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:146142647"
variation 1685
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:61730295"
variation 1686
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:132630330"
variation 1709
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:377416052"
exon 1744..4474
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1765
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:1803659"
STS 1866..2042
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH16"
/db_xref="UniSTS:4226"
polyA_signal 1909..1914
/gene="GK"
/gene_synonym="GK1; GKD"
variation 1944
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:182551917"
polyA_site 1946
/gene="GK"
/gene_synonym="GK1; GKD"
variation 1955
/gene="GK"
/gene_synonym="GK1; GKD"
/replace=""
/replace="t"
/db_xref="dbSNP:34867477"
STS 1973..2034
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="GDB:655772"
/db_xref="UniSTS:52343"
variation 2094
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:3931219"
variation 2095
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:187871122"
STS 2174..2255
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH92654"
/db_xref="UniSTS:90021"
STS 2500..2634
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH38757"
/db_xref="UniSTS:86741"
polyA_signal 2699..2704
/gene="GK"
/gene_synonym="GK1; GKD"
polyA_site 2725
/gene="GK"
/gene_synonym="GK1; GKD"
variation 2751
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:138317985"
variation 2783
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:201500166"
variation 2866
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:5972215"
variation 2936
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:192553031"
variation 2946
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:111524220"
variation 2998
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73632545"
variation 3021
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5972216"
variation 3033
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:5972217"
variation 3037
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5972218"
variation 3071
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:5972219"
variation 3150
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:5972220"
variation 3166
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142179849"
variation 3179
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5926945"
variation 3188
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5972221"
STS 3225..3372
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH93765"
/db_xref="UniSTS:91920"
variation 3233
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73452162"
variation 3293
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5927597"
variation 3370
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:5972222"
variation 3431
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:377422043"
variation 3537
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5926946"
variation 3540
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="g"
/db_xref="dbSNP:5927598"
polyA_signal 3598..3603
/gene="GK"
/gene_synonym="GK1; GKD"
polyA_site 3626
/gene="GK"
/gene_synonym="GK1; GKD"
variation 3653
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:146509969"
variation 3675
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:187274085"
variation 3694
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:191998784"
variation 3803..3804
/gene="GK"
/gene_synonym="GK1; GKD"
/replace=""
/replace="a"
/db_xref="dbSNP:373925548"
variation 3946
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:140725888"
variation 3976
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2170611"
variation 3979
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:375515904"
variation 4037
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:5927599"
variation 4206
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:28551561"
variation 4213
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:207478216"
variation 4223
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:184459838"
variation 4322
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:189289452"
polyA_signal 4454..4459
/gene="GK"
/gene_synonym="GK1; GKD"
polyA_site 4474
/gene="GK"
/gene_synonym="GK1; GKD"
ORIGIN
gggccggaggggcggggtgagaaggctgcgcgcgggtaaaggggccgcctcgagcgcggtccgagcgttcagcggacgcgcgcggcctcgatctctggactcgtcacctgcccctccccctcccgccgccgtcacccaggaaaccggccgcaatcgccggccgacctgaagctggtttcatggcagcctcaaagaaggcagttttggggccattggtgggggcggtggaccagggcaccagttcgacgcgctttttggttttcaattcaaaaacagctgaactacttagtcatcatcaagtagaaataaaacaagagttcccaagagaaggatgggtggaacaggaccctaaggaaattctacattctgtctatgagtgtatagagaaaacatgtgagaaacttggacagctcaatattgatatttccaacataaaagctattggtgtcagcaaccagagggaaaccactgtagtctgggacaagataactggagagcctctctacaatgctgtggtgtggcttgatctaagaacccagtctaccgttgagagtcttagtaaaagaattccaggaaataataactttgtcaagtccaagacaggccttccacttagcacttacttcagtgcagtgaaacttcgttggctccttgacaatgtgagaaaagttcaaaaggccgttgaagaaaaacgagctctttttgggactattgattcatggcttatttggagtttgacaggaggagtcaatggaggtgtccactgtacagatgtaacaaatgcaagtaggactatgcttttcaacattcattctttggaatgggataaacaactctgcgaattttttggaattccaatggaaattcttccaaatgtccggagttcttctgagatctatggcctaatgaaagctggggccttggaaggtgtgccaatatctgggtgtttaggggaccagtctgctgcattggtgggacaaatgtgcttccagattggacaagccaaaaatacgtatggaacaggatgtttcttactatgtaatacaggccataagtgtgtattttctgatcatggccttctcaccacagtggcttacaaacttggcagagacaaaccagtatattatgctttggaaggttctgtagctatagctggtgctgttattcgctggctaagagacaatcttggaattataaagacctcagaagaaattgaaaaacttgctaaagaagtaggtacttcttatggctgctacttcgtcccagcattttcggggttatatgcaccttattgggagcccagcgcaagagggataatctgtggactcactcagttcaccaataaatgccatattgcttttgctgcattagaagctgtttgtttccaaactcgagagattttggatgccatgaatcgagactgtggaattccactcagtcatttgcaggtagatggaggaatgaccagcaacaaaattcttatgcagctacaagcagacattctgtatataccagtagtgaagccctcaatgcccgaaaccactgcactgggtgcggctatggcggcaggggctgcagaaggagtcggcgtatggagtctcgaacccgaggatttgtctgccgtcacgatggagcggtttgaacctcagattaatgcggaggaaagtgaaattcgttattctacatggaagaaagctgtgatgaagtcaatgggttgggttacaactcaatctccagaaagtggtattccataaaacctaccaactcatggattcccaagatgtgagctttttacataatgaaagaacccagcaattctgtctcttaatgcaatgacactattcatagactttgattttatttataagccacttgctgcatgaccctccaagtagacctgtggcttaaaataaagaaaatgcagcaaaaagaatgctatagaaatatttggtggttttttttttttttaaacatccacagttaaggttgggccagctacctttggggctgaccccctccattgccataacatcctgctccattccctctaagatgtaggaagaattcggatccttaccattggaatcttccatcgaacatactcaaacacttttggaccaggatttgagtctctgcatgacatatacttgattaaaaggttattactaacctgttaaaaatcagcagctctttgcttttaacagacaccctaaaagtcttcttttctacatagttgaagacagcaacatcttcactgaatgtttgaatagaaacctctactaaattattaaaatagacatttagtgttctcacagcttggatatttttctgaaaagttatttgccaaaactgaaatccttcagatgttttccatggtcccactaattataatgactttctgtctggatcttataggaaaagatactttcttttttcttccatctttcctttttatattttttactttgtatgtataacatacatgcctatatattttatacactgagggtagcccatttataaattaagagcacattatattcagaaggttctaacagggctggtcttaagtgaaccactgtgtatataaatatgttggaaaacagctgtatacatttttgggcaacggttatgcataatatttaccaggagaatttttttcttaacaagccaacatttaaaatttatgttttatgtcaataaaagaaaatatactttattgtgacttcaactatatttcttatcccttacatttttatttaattgtcttagcttaaaaaaagaagaaactgtggaatactacagtaaatattgttttcaaacacaagcaataattcaaatagttatttttcttttgaattaattttagacatattttggatcctattgaggggataagaggatgtcaaaaaagttaaatacctaagtagaaaaaaatatagaaataaagccaagaatctctttcagttcaaatgttatcaattgttaataagaaattgctatctgggatgacagaattacctctgcttagtatctcattataactgaaagaaggtttatcattacaaataccttccaatgaaaccaagaatttctcaaaatatttaatgtcacatattataagaagttacctaatcctgcttcttaacatcaatttttaaaaatatcttaaaattactttgttttgtagtaaacagtgaagaaaagattgcctcctaattatttttttcaatgagtgctgaatgggaaaacatttatatcttactataaaaggttctgttttgtttggaatcaatggtagctttattgactgttctgattgtgctgtttctaatttattgaatctgctaggttttattgatgcagccaccacttaagtgacataaatattatagaaaggtactgtgaaatgatcactttgtggcaggggtacttttaaacataaatgtttctacaaaagtaggttgagttcattgtaaataattgtgaaagccactgttcaaataattttaagattacattaatttttctataaattggaagatttataaatgtttgaaattgtacacattgatatttaatgacaaatttacttaaaataaattgaccccttgttcttacttgcatttctcatttacagactagaacttagttgaaagttaaattaagaaagatgtttcagaggccgggcacggtggctgacgcctgtaatcccagcactttgggaggccgaggtgggcagatcacctgaggtcaggagttcgggactagcctaaccgacatggagaaaccctatctctactaaaaaaaaaaaaagatgtttcaggacatgtgaaacttggctgttagcgcttgatagggcacactctgaagagttaaccaacagccaaagaagtaatttctgtaatgatgaacactttaatcattctattagaagaaactacactgtcccatctcagcatttgcaaaaaataatgttggtaaggtcagcagccattatcaacagggccttgcatggctaactttgaccaccatttttctctcaacctgataggcaacacctcaatcctttgttctccaactaatcagtaaaataagtaatgcatctctgcttctgtaatgatatcttagaatttttagtatgtttcttttgaagtgcccaaagcccaattctttgggatatcttttgggtatctggtatcatgtgggagtgaagaaagaaagtttttggagaaaccaacaaatgaaagctgtgatagcacagaagctaatggcattgacagtggagtaggtagtatttaatctgtagtgtttacaacatagtagatagaagtacaaaaatttttttaactataactctttaatagcttgttttatctagtaatatttaaataatgaagtttccttgatcctttgcttttgcaacctaacaactttaataataagttcacacaataaacaaattagtagaaaaaaaaaaaaaaa
//
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_000158 -> EC 2.7.1.30
by
@meso_cacase at
DBCLS
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