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2024-04-26 04:35:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001128127 4572 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens glycerol kinase (GK), transcript variant 3, mRNA.
ACCESSION NM_001128127
VERSION NM_001128127.2 GI:326381121
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 4572)
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 4572)
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 4572)
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 4572)
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 4572)
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 4572)
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 4572)
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 4572)
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 4572)
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 4572)
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:189409119.
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 (3) lacks an in-frame coding exon
in the mid-region, and contains an additional in-frame coding exon
at the 3' end compared to variant 1. This results in a longer
isoform (c) 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##
RNAseq introns :: single sample supports all introns ERS025084,
ERS025085 [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
909-1743 BC042421.1 928-1762
1744-2179 AK294938.1 1797-2232
2180-3261 BC042421.1 2111-3192
3262-3707 AA689298.1 23-468 c
3708-4539 AC112496.2 126492-127323 c
4540-4572 AW300142.1 1-33 c
FEATURES Location/Qualifiers
source 1..4572
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp21.3"
gene 1..4572
/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..1841
/gene="GK"
/gene_synonym="GK1; GKD"
/EC_number="2.7.1.30"
/note="isoform c is encoded by transcript variant 3;
ATP:glycerol 3-phosphotransferase; glycerokinase"
/codon_start=1
/product="glycerol kinase isoform c"
/protein_id="NP_001121599.1"
/db_xref="GI:189409120"
/db_xref="CCDS:CCDS48090.1"
/db_xref="GeneID:2710"
/db_xref="HGNC:4289"
/db_xref="MIM:300474"
/translation="
MAASKKAVLGPLVGAVDQGTSSTRFLVFNSKTAELLSHHQVEIKQEFPREGWVEQDPKEILHSVYECIEKTCEKLGQLNIDISNIKAIGVSNQRETTVVWDKITGEPLYNAVVWLDLRTQSTVESLSKRIPGNNNFVKSKTGLPLSTYFSAVKLRWLLDNVRKVQKAVEEKRALFGTIDSWLIWSLTGGVNGGVHCTDVTNASRTMLFNIHSLEWDKQLCEFFGIPMEILPNVRSSSEIYGLMKAGALEGVPISGCLGDQSAALVGQMCFQIGQAKNTYGTGCFLLCNTGHKCVFSDHGLLTTVAYKLGRDKPVYYALEGSVAIAGAVIRWLRDNLGIIKTSEEIEKLAKEVGTSYGCYFVPAFSGLYAPYWEPSARGIICGLTQFTNKCHIAFAALEAVCFQTREILDAMNRDCGIPLSHLQVDGGMTSNKILMQLQADILYIPVVKPSMPETTALGAAMAAGAAEGVGVWSLEPEDLSAVTMERFEPQINAEESEIRYSTWKKAVMKSMGWVTTQSPESGDPSIFCSLPLGFFIVSSMVMLIGARYISGIP
"
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..1830
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1754
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:377501703"
exon 1831..4561
/gene="GK"
/gene_synonym="GK1; GKD"
/inference="alignment:Splign:1.39.8"
variation 1852
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:1803659"
STS 1953..2129
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH16"
/db_xref="UniSTS:4226"
polyA_signal 1996..2001
/gene="GK"
/gene_synonym="GK1; GKD"
variation 2031
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:182551917"
polyA_site 2033
/gene="GK"
/gene_synonym="GK1; GKD"
variation 2042
/gene="GK"
/gene_synonym="GK1; GKD"
/replace=""
/replace="t"
/db_xref="dbSNP:34867477"
STS 2060..2121
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="GDB:655772"
/db_xref="UniSTS:52343"
variation 2181
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:3931219"
variation 2182
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:187871122"
STS 2261..2342
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH92654"
/db_xref="UniSTS:90021"
STS 2587..2721
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH38757"
/db_xref="UniSTS:86741"
polyA_signal 2786..2791
/gene="GK"
/gene_synonym="GK1; GKD"
polyA_site 2812
/gene="GK"
/gene_synonym="GK1; GKD"
variation 2838
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:138317985"
variation 2870
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:201500166"
variation 2953
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:5972215"
variation 3023
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:192553031"
variation 3033
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:111524220"
variation 3085
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73632545"
variation 3108
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5972216"
variation 3120
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:5972217"
variation 3124
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5972218"
variation 3158
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:5972219"
variation 3237
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:5972220"
variation 3253
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142179849"
variation 3266
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5926945"
variation 3275
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5972221"
STS 3312..3459
/gene="GK"
/gene_synonym="GK1; GKD"
/standard_name="RH93765"
/db_xref="UniSTS:91920"
variation 3320
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73452162"
variation 3380
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5927597"
variation 3457
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:5972222"
variation 3518
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:377422043"
variation 3624
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:5926946"
variation 3627
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="g"
/db_xref="dbSNP:5927598"
polyA_signal 3685..3690
/gene="GK"
/gene_synonym="GK1; GKD"
polyA_site 3713
/gene="GK"
/gene_synonym="GK1; GKD"
variation 3740
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="c"
/replace="t"
/db_xref="dbSNP:146509969"
variation 3762
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:187274085"
variation 3781
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:191998784"
variation 3890..3891
/gene="GK"
/gene_synonym="GK1; GKD"
/replace=""
/replace="a"
/db_xref="dbSNP:373925548"
variation 4033
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="c"
/db_xref="dbSNP:140725888"
variation 4063
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2170611"
variation 4066
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:375515904"
variation 4124
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:5927599"
variation 4293
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:28551561"
variation 4300
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="g"
/replace="t"
/db_xref="dbSNP:207478216"
variation 4310
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="t"
/db_xref="dbSNP:184459838"
variation 4409
/gene="GK"
/gene_synonym="GK1; GKD"
/replace="a"
/replace="g"
/db_xref="dbSNP:189289452"
polyA_signal 4541..4546
/gene="GK"
/gene_synonym="GK1; GKD"
polyA_site 4561
/gene="GK"
/gene_synonym="GK1; GKD"
ORIGIN
gggccggaggggcggggtgagaaggctgcgcgcgggtaaaggggccgcctcgagcgcggtccgagcgttcagcggacgcgcgcggcctcgatctctggactcgtcacctgcccctccccctcccgccgccgtcacccaggaaaccggccgcaatcgccggccgacctgaagctggtttcatggcagcctcaaagaaggcagttttggggccattggtgggggcggtggaccagggcaccagttcgacgcgctttttggttttcaattcaaaaacagctgaactacttagtcatcatcaagtagaaataaaacaagagttcccaagagaaggatgggtggaacaggaccctaaggaaattctacattctgtctatgagtgtatagagaaaacatgtgagaaacttggacagctcaatattgatatttccaacataaaagctattggtgtcagcaaccagagggaaaccactgtagtctgggacaagataactggagagcctctctacaatgctgtggtgtggcttgatctaagaacccagtctaccgttgagagtcttagtaaaagaattccaggaaataataactttgtcaagtccaagacaggccttccacttagcacttacttcagtgcagtgaaacttcgttggctccttgacaatgtgagaaaagttcaaaaggccgttgaagaaaaacgagctctttttgggactattgattcatggcttatttggagtttgacaggaggagtcaatggaggtgtccactgtacagatgtaacaaatgcaagtaggactatgcttttcaacattcattctttggaatgggataaacaactctgcgaattttttggaattccaatggaaattcttccaaatgtccggagttcttctgagatctatggcctaatgaaagctggggccttggaaggtgtgccaatatctgggtgtttaggggaccagtctgctgcattggtgggacaaatgtgcttccagattggacaagccaaaaatacgtatggaacaggatgtttcttactatgtaatacaggccataagtgtgtattttctgatcatggccttctcaccacagtggcttacaaacttggcagagacaaaccagtatattatgctttggaaggttctgtagctatagctggtgctgttattcgctggctaagagacaatcttggaattataaagacctcagaagaaattgaaaaacttgctaaagaagtaggtacttcttatggctgctacttcgtcccagcattttcggggttatatgcaccttattgggagcccagcgcaagagggataatctgtggactcactcagttcaccaataaatgccatattgcttttgctgcattagaagctgtttgtttccaaactcgagagattttggatgccatgaatcgagactgtggaattccactcagtcatttgcaggtagatggaggaatgaccagcaacaaaattcttatgcagctacaagcagacattctgtatataccagtagtgaagccctcaatgcccgaaaccactgcactgggtgcggctatggcggcaggggctgcagaaggagtcggcgtatggagtctcgaacccgaggatttgtctgccgtcacgatggagcggtttgaacctcagattaatgcggaggaaagtgaaattcgttattctacatggaagaaagctgtgatgaagtcaatgggttgggttacaactcaatctccagaaagtggtgaccctagtatcttctgtagtctgcccttgggcttttttatagtgagtagcatggtaatgttaatcggagcaaggtacatctcaggtattccataaaacctaccaactcatggattcccaagatgtgagctttttacataatgaaagaacccagcaattctgtctcttaatgcaatgacactattcatagactttgattttatttataagccacttgctgcatgaccctccaagtagacctgtggcttaaaataaagaaaatgcagcaaaaagaatgctatagaaatatttggtggttttttttttttttaaacatccacagttaaggttgggccagctacctttggggctgaccccctccattgccataacatcctgctccattccctctaagatgtaggaagaattcggatccttaccattggaatcttccatcgaacatactcaaacacttttggaccaggatttgagtctctgcatgacatatacttgattaaaaggttattactaacctgttaaaaatcagcagctctttgcttttaacagacaccctaaaagtcttcttttctacatagttgaagacagcaacatcttcactgaatgtttgaatagaaacctctactaaattattaaaatagacatttagtgttctcacagcttggatatttttctgaaaagttatttgccaaaactgaaatccttcagatgttttccatggtcccactaattataatgactttctgtctggatcttataggaaaagatactttcttttttcttccatctttcctttttatattttttactttgtatgtataacatacatgcctatatattttatacactgagggtagcccatttataaattaagagcacattatattcagaaggttctaacagggctggtcttaagtgaaccactgtgtatataaatatgttggaaaacagctgtatacatttttgggcaacggttatgcataatatttaccaggagaatttttttcttaacaagccaacatttaaaatttatgttttatgtcaataaaagaaaatatactttattgtgacttcaactatatttcttatcccttacatttttatttaattgtcttagcttaaaaaaagaagaaactgtggaatactacagtaaatattgttttcaaacacaagcaataattcaaatagttatttttcttttgaattaattttagacatattttggatcctattgaggggataagaggatgtcaaaaaagttaaatacctaagtagaaaaaaatatagaaataaagccaagaatctctttcagttcaaatgttatcaattgttaataagaaattgctatctgggatgacagaattacctctgcttagtatctcattataactgaaagaaggtttatcattacaaataccttccaatgaaaccaagaatttctcaaaatatttaatgtcacatattataagaagttacctaatcctgcttcttaacatcaatttttaaaaatatcttaaaattactttgttttgtagtaaacagtgaagaaaagattgcctcctaattatttttttcaatgagtgctgaatgggaaaacatttatatcttactataaaaggttctgttttgtttggaatcaatggtagctttattgactgttctgattgtgctgtttctaatttattgaatctgctaggttttattgatgcagccaccacttaagtgacataaatattatagaaaggtactgtgaaatgatcactttgtggcaggggtacttttaaacataaatgtttctacaaaagtaggttgagttcattgtaaataattgtgaaagccactgttcaaataattttaagattacattaatttttctataaattggaagatttataaatgtttgaaattgtacacattgatatttaatgacaaatttacttaaaataaattgaccccttgttcttacttgcatttctcatttacagactagaacttagttgaaagttaaattaagaaagatgtttcagaggccgggcacggtggctgacgcctgtaatcccagcactttgggaggccgaggtgggcagatcacctgaggtcaggagttcgggactagcctaaccgacatggagaaaccctatctctactaaaaaaaaaaaaagatgtttcaggacatgtgaaacttggctgttagcgcttgatagggcacactctgaagagttaaccaacagccaaagaagtaatttctgtaatgatgaacactttaatcattctattagaagaaactacactgtcccatctcagcatttgcaaaaaataatgttggtaaggtcagcagccattatcaacagggccttgcatggctaactttgaccaccatttttctctcaacctgataggcaacacctcaatcctttgttctccaactaatcagtaaaataagtaatgcatctctgcttctgtaatgatatcttagaatttttagtatgtttcttttgaagtgcccaaagcccaattctttgggatatcttttgggtatctggtatcatgtgggagtgaagaaagaaagtttttggagaaaccaacaaatgaaagctgtgatagcacagaagctaatggcattgacagtggagtaggtagtatttaatctgtagtgtttacaacatagtagatagaagtacaaaaatttttttaactataactctttaatagcttgttttatctagtaatatttaaataatgaagtttccttgatcctttgcttttgcaacctaacaactttaataataagttcacacaataaacaaattagtagaaaaaaaaaaaaaaa
//
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_001121599 -> EC 2.7.1.30
by
@meso_cacase at
DBCLS
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