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2024-04-25 00:02:57, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018238 2925 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens acylglycerol kinase (AGK), mRNA.
ACCESSION NM_018238
VERSION NM_018238.3 GI:187607258
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 2925)
AUTHORS Aldahmesh,M.A., Khan,A.O., Mohamed,J.Y., Alghamdi,M.H. and
Alkuraya,F.S.
TITLE Identification of a truncation mutation of acylglycerol kinase
(AGK) gene in a novel autosomal recessive cataract locus
JOURNAL Hum. Mutat. 33 (6), 960-962 (2012)
PUBMED 22415731
REMARK GeneRIF: This is the first mutation in AGK gene to be implicated in
the development of isolated cataract.
REFERENCE 2 (bases 1 to 2925)
AUTHORS Mayr,J.A., Haack,T.B., Graf,E., Zimmermann,F.A., Wieland,T.,
Haberberger,B., Superti-Furga,A., Kirschner,J., Steinmann,B.,
Baumgartner,M.R., Moroni,I., Lamantea,E., Zeviani,M.,
Rodenburg,R.J., Smeitink,J., Strom,T.M., Meitinger,T., Sperl,W. and
Prokisch,H.
TITLE Lack of the mitochondrial protein acylglycerol kinase causes
Sengers syndrome
JOURNAL Am. J. Hum. Genet. 90 (2), 314-320 (2012)
PUBMED 22284826
REMARK GeneRIF: The loss of AGK led to a decrease of the adenine
nucleotide translocator in the inner mitochondrial membrane in
muscle.
GeneRIF: Lack of the AGK causes Sengers syndrome
REFERENCE 3 (bases 1 to 2925)
AUTHORS Calvo,S.E., Compton,A.G., Hershman,S.G., Lim,S.C., Lieber,D.S.,
Tucker,E.J., Laskowski,A., Garone,C., Liu,S., Jaffe,D.B.,
Christodoulou,J., Fletcher,J.M., Bruno,D.L., Goldblatt,J.,
Dimauro,S., Thorburn,D.R. and Mootha,V.K.
TITLE Molecular diagnosis of infantile mitochondrial disease with
targeted next-generation sequencing
JOURNAL Sci Transl Med 4 (118), 118RA10 (2012)
PUBMED 22277967
REMARK GeneRIF: Recessive mutations in AGK cause mitochondrial DNA
depletion
REFERENCE 4 (bases 1 to 2925)
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 5 (bases 1 to 2925)
AUTHORS Nouh,M.A., Wu,X.X., Okazoe,H., Tsunemori,H., Haba,R.,
Abou-Zeid,A.M., Saleem,M.D., Inui,M., Sugimoto,M., Aoki,J. and
Kakehi,Y.
TITLE Expression of autotaxin and acylglycerol kinase in prostate cancer:
association with cancer development and progression
JOURNAL Cancer Sci. 100 (9), 1631-1638 (2009)
PUBMED 19549252
REMARK GeneRIF: High Expression of acylglycerol kinase is associated with
development and progression of prostate cancer.
REFERENCE 6 (bases 1 to 2925)
AUTHORS Epand,R.M., Shulga,Y.V., Timmons,H.C., Perri,A.L., Belani,J.D.,
Perinpanathan,K., Johnson-McIntire,L.B., Bajjalieh,S., Dicu,A.O.,
Elias,C., Rychnovsky,S.D. and Topham,M.K.
TITLE Substrate chirality and specificity of diacylglycerol kinases and
the multisubstrate lipid kinase
JOURNAL Biochemistry 46 (49), 14225-14231 (2007)
PUBMED 18004883
REMARK GeneRIF: The chiral specificity of diacylglycerol kinase alpha,
zeta & epsilon mimics the substrate specificity, with MuLK being
the least selective and the epsilon isoform of diacylglycerol
kinase exhibiting the greatest selectivity.
REFERENCE 7 (bases 1 to 2925)
AUTHORS Spiegel,S. and Milstien,S.
TITLE Functions of the multifaceted family of sphingosine kinases and
some close relatives
JOURNAL J. Biol. Chem. 282 (4), 2125-2129 (2007)
PUBMED 17135245
REMARK Review article
REFERENCE 8 (bases 1 to 2925)
AUTHORS Van Overloop,H., Gijsbers,S. and Van Veldhoven,P.P.
TITLE Further characterization of mammalian ceramide kinase: substrate
delivery and (stereo)specificity, tissue distribution, and
subcellular localization studies
JOURNAL J. Lipid Res. 47 (2), 268-283 (2006)
PUBMED 16269826
REFERENCE 9 (bases 1 to 2925)
AUTHORS Bektas,M., Payne,S.G., Liu,H., Goparaju,S., Milstien,S. and
Spiegel,S.
TITLE A novel acylglycerol kinase that produces lysophosphatidic acid
modulates cross talk with EGFR in prostate cancer cells
JOURNAL J. Cell Biol. 169 (5), 801-811 (2005)
PUBMED 15939762
REFERENCE 10 (bases 1 to 2925)
AUTHORS Waggoner,D.W., Johnson,L.B., Mann,P.C., Morris,V., Guastella,J. and
Bajjalieh,S.M.
TITLE MuLK, a eukaryotic multi-substrate lipid kinase
JOURNAL J. Biol. Chem. 279 (37), 38228-38235 (2004)
PUBMED 15252046
REMARK GeneRIF: identification and characterization of a novel lipid
kinase that phosphorylates multiple substrates, MuLK
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB032353.1, AK001704.1,
BC022777.1 and AJ278150.1.
This sequence is a reference standard in the RefSeqGene project.
On May 7, 2008 this sequence version replaced gi:21359926.
Summary: The protein encoded by this gene is a mitochondrial
membrane protein involved in lipid and glycerolipid metabolism. The
encoded protein is a lipid kinase that catalyzes the formation of
phosphatidic and lysophosphatidic acids. Defects in this gene have
been associated with mitochondrial DNA depletion syndrome 10.
[provided by RefSeq, Feb 2012].
##Evidence-Data-START##
Transcript exon combination :: BC022777.1, AK001704.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-132 DB032353.1 1-132
133-146 AK001704.1 1-14
147-398 BC022777.1 1-252
399-2151 AJ278150.1 255-2007
2152-2925 BC022777.1 2006-2779
FEATURES Location/Qualifiers
source 1..2925
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q34"
gene 1..2925
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/note="acylglycerol kinase"
/db_xref="GeneID:55750"
/db_xref="HGNC:21869"
/db_xref="HPRD:08554"
/db_xref="MIM:610345"
exon 1..157
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 8
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:183107224"
variation 10
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:148553992"
variation 37..38
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace=""
/replace="cg"
/db_xref="dbSNP:369856579"
exon 158..272
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
misc_feature 166..168
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/note="upstream in-frame stop codon"
CDS 172..1440
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/EC_number="2.7.1.107"
/EC_number="2.7.1.94"
/note="multi-substrate lipid kinase; multiple substrate
lipid kinase; acylglycerol kinase, mitochondrial; hAGK;
hsMuLK"
/codon_start=1
/product="acylglycerol kinase, mitochondrial precursor"
/protein_id="NP_060708.1"
/db_xref="GI:8922701"
/db_xref="CCDS:CCDS5865.1"
/db_xref="GeneID:55750"
/db_xref="HGNC:21869"
/db_xref="HPRD:08554"
/db_xref="MIM:610345"
/translation="
MTVFFKTLRNHWKKTTAGLCLLTWGGHWLYGKHCDNLLRRAACQEAQVFGNQLIPPNAQVKKATVFLNPAACKGKARTLFEKNAAPILHLSGMDVTIVKTDYEGQAKKLLELMENTDVIIVAGGDGTLQEVVTGVLRRTDEATFSKIPIGFIPLGETSSLSHTLFAESGNKVQHITDATLAIVKGETVPLDVLQIKGEKEQPVFAMTGLRWGSFRDAGVKVSKYWYLGPLKIKAAHFFSTLKEWPQTHQASISYTGPTERPPNEPEETPVQRPSLYRRILRRLASYWAQPQDALSQEVSPEVWKDVQLSTIELSITTRNNQLDPTSKEDFLNICIEPDTISKGDFITIGSRKVRNPKLHVEGTECLQASQCTLLIPEGAGGSFSIDSEEYEAMPVEVKLLPRKLQFFCDPRKREQMLTSPTQ
"
transit_peptide 172..264
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="non-experimental evidence, no additional
details recorded"
/note="Mitochondrion (Potential); propagated from
UniProtKB/Swiss-Prot (Q53H12.2)"
misc_feature 187..189
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q53H12.2); acetylation site"
mat_peptide 265..1437
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/product="Acylglycerol kinase, mitochondrial"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q53H12.2)"
misc_feature 355..744
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/note="Diacylglycerol kinase catalytic domain; Region:
DAGK_cat; pfam00781"
/db_xref="CDD:201440"
variation 176
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:374309273"
variation 178
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:10262855"
variation 188
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:148294392"
variation 196
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:139967538"
variation 200
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:35269563"
variation 218
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:376806008"
variation 226
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:367844999"
exon 273..312
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 279
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:199611875"
variation 292..293
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace=""
/replace="c"
/db_xref="dbSNP:34156673"
variation 298
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:201177536"
variation 299
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:200454828"
exon 313..392
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 323
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:201647632"
variation 357
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="g"
/replace="t"
/db_xref="dbSNP:199778260"
exon 393..468
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 399
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:17852106"
variation 403
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:368567634"
variation 426
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:201868332"
exon 469..561
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 484
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:76803650"
variation 498
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:148971840"
variation 502
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="g"
/db_xref="dbSNP:145805257"
variation 526
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:180770509"
exon 562..594
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 587
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="g"
/db_xref="dbSNP:144706178"
exon 595..689
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 616
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:113986866"
variation 649
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="t"
/db_xref="dbSNP:375210929"
variation 670
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:141323107"
variation 688
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907024"
exon 690..759
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 715
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:200104400"
variation 748
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:202037926"
exon 760..839
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 771
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:79774717"
variation 792
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:140431258"
variation 793
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:376000469"
variation 799
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:368565785"
variation 825
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:144977618"
variation 826
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:201584377"
exon 840..897
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 855
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:150732826"
exon 898..1048
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 913
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:78219214"
variation 914
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:150160397"
variation 935
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:112625649"
variation 959
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:138656216"
variation 970
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:142723772"
variation 974
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:142779190"
variation 1012
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907025"
variation 1023
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:183816817"
variation 1025
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="g"
/db_xref="dbSNP:147416485"
exon 1049..1146
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 1051
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:139547145"
variation 1067
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="g"
/db_xref="dbSNP:375822022"
variation 1070
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:143558063"
variation 1126
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:200130683"
exon 1147..1217
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 1175
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:147134228"
variation 1201
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:199821443"
exon 1218..1302
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 1222
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="g"
/db_xref="dbSNP:148604072"
variation 1223
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="g"
/db_xref="dbSNP:374861637"
variation 1259
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:142069429"
variation 1269
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:369042931"
variation 1298
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:150893768"
exon 1303..2925
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/inference="alignment:Splign:1.39.8"
variation 1356
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:55701664"
variation 1360
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:367862146"
variation 1368
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:139412235"
variation 1482
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:370588816"
variation 1487
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:183235336"
variation 1581
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:6943245"
variation 1584
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:141018660"
variation 1619
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:149824194"
variation 1624
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:116500538"
variation 1759
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace=""
/replace="c"
/db_xref="dbSNP:142235678"
variation 1760
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:3735282"
variation 1804
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="g"
/db_xref="dbSNP:368718308"
variation 1847
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="g"
/replace="t"
/db_xref="dbSNP:145885230"
variation 1898
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:376295974"
variation 1901..1902
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace=""
/replace="tgtt"
/db_xref="dbSNP:143849281"
variation 1923
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:56369959"
variation 1983
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:149002373"
variation 1986..1987
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace=""
/replace="a"
/db_xref="dbSNP:371205762"
variation 2061
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:192654792"
variation 2078
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="g"
/replace="t"
/db_xref="dbSNP:372104767"
variation 2093
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:184839269"
variation 2139..2140
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace=""
/replace="aa"
/db_xref="dbSNP:368254280"
STS 2140..2260
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/standard_name="RH45804"
/db_xref="UniSTS:81531"
variation 2200
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:370730359"
variation 2227
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:188382958"
variation 2263
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:144618318"
variation 2322
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="c"
/db_xref="dbSNP:375239996"
variation 2373
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:73171606"
polyA_signal 2395..2400
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
polyA_site 2427
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
variation 2432
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:191308473"
variation 2464
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:78124534"
polyA_signal 2481..2486
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
polyA_site 2519
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
variation 2615
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:71545336"
variation 2625..2626
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace=""
/replace="ttct"
/db_xref="dbSNP:368182908"
variation 2626..2627
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace=""
/replace="tctt"
/db_xref="dbSNP:376580705"
variation 2650
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="t"
/db_xref="dbSNP:184938991"
polyA_site 2661
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
variation 2677
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:202211411"
variation 2779..2780
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace=""
/replace="a"
/db_xref="dbSNP:34546763"
polyA_site 2781
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
variation 2798
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="t"
/db_xref="dbSNP:189393927"
variation 2907
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="c"
/replace="t"
/db_xref="dbSNP:140297904"
variation 2923
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
/replace="a"
/replace="g"
/db_xref="dbSNP:145307785"
polyA_site 2925
/gene="AGK"
/gene_synonym="CATC5; MTDPS10; MULK"
ORIGIN
atccgagccggttcccgcccccggcccgaactggcccgcgcgcgctcgcagccccgcggcggaacccgagggcggcggcagcggtttcccttgaacgagccggggaatctggagggagcacacaggaaaggcagagccgcgagctggaccagccgtgcaaatctctagaagatgacggtgttctttaaaacgcttcgaaatcactggaagaaaactacagctgggctctgcctgctgacctggggaggccattggctctatggaaaacactgtgataacctcctaaggagagcagcctgtcaagaagctcaggtgtttggcaatcaactcattcctcccaatgcacaagtgaagaaggccactgtttttctcaatcctgcagcttgcaaaggaaaagccaggactctatttgaaaaaaatgctgccccgattttacatttatctggcatggatgtgactattgttaagacagattatgagggacaagccaagaaactcctggaactgatggaaaacacggatgtgatcattgttgcaggaggagatgggacactgcaggaggttgttactggtgttcttcgacgaacagatgaggctaccttcagtaagattcccattggatttatcccactgggagagaccagtagtttgagtcataccctctttgccgaaagtggaaacaaagtccaacatattactgatgccacacttgccattgtgaaaggagagacagttccacttgatgtcttgcagatcaagggtgaaaaggaacagcctgtatttgcaatgaccggccttcgatggggatctttcagagatgctggcgtcaaagttagcaagtactggtatcttgggcctctaaaaatcaaagcagcccactttttcagcactcttaaggagtggcctcagactcatcaagcctctatctcatacacgggacctacagagagacctcccaatgaaccagaggagacccctgtacaaaggccttctttgtacaggagaatattacgaaggcttgcgtcctactgggcacaaccacaggatgccctttcccaagaggtgagcccggaggtctggaaagatgtgcagctgtccaccattgaactgtccatcacaacacggaataatcagcttgacccgacaagcaaagaagattttctgaatatctgcattgaacctgacaccatcagcaaaggagactttataactataggaagtcgaaaggtgagaaaccccaagctgcacgtggagggcacggagtgtctccaagccagccagtgcactttgcttatcccggagggagcagggggctcttttagcattgacagtgaggagtatgaagcgatgcctgtggaggtgaaactgctccccaggaagctgcagttcttctgtgatcctaggaagagagaacagatgctcacaagccccacccagtgagcagcagaagacaagcactctgagaccacactttaggccaccggtgggaccaaaagggaacaggtgcctcagccatcccaacagtgtcgtcagagggtccccagggcattttcatggcaagtacccctctgcccccactccagcagtgcttcccaaagtgtgctctgtcacctgctttgcaatcggcttccattagcgcatgttttattttggtgtgacggttggccctcctaaacacggactttcctcaggctggttcaagacggaaaaggactttcttctgttttcttccaaagtgcaaccacagtggagagcccacggtgggcttagcctgcctaggcccttccatttctcttctttgaccgtgctaggaattccaggaaagtgcattcctgccctggtgaccttttcctatgtctaggctcctccacaggtgctgctattttgtgagctccggctcctgtttagcttttatttcagttctaacctcagtccagaaacatatgtgaggttgtttccctcttcagccacggctacaataccggaaaatgctagtttttatttatttttttaagtagtgcttcctaaatggtttgcatgagagccacctggggtacatgttgaaaacttatttggggtctaccccaaacctaataacccaaatttggggatggggcccaggaatatgcatttttaaaaagtcatctgcccttcccaggtgattctgtaagttgtccctcaactgtacttggagaaatcgtgttttaaagcagtagtccacaaagtattctgctcatgtgcccccaaaagtattttgaaaaatcatgtataccctcacccatctaagttgatatctaaaattttatctaagttggtatctaaaatttttcatgggaagttaaatagttgacaaagtatgtatttgctggtgtcgtgtaaatattggtattttaaaataaaaactgttacatcactattttaaacatatccagtacaatttaaatatcacaacaatttgacacccttcattcatttataaaaataaatgagctagttctttagtagttaaacatttcaaattggcttttctccttctgtatttccataccacttttcagccaagaatcctatcataatgtaatctattatgcccgacatcttttaatcattcaccccattacttcttgtcaacaaaaaatataaatggaaattttttttttagctcttgctttaagtgtttgtttgttatctcagtccagaaccaatattatcgtaattaattattggtatataatgaaaacggtattaattcttggatgattaaaagtttttttattagaatgttctttatcctaattagttcatttatccaagaatacatgaatgtgatttacagctgagatggggttcaacctcagctgtattccttgtttctgtatagatgtaagcacataaattcgatggaatagaattacgttaacaatg
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:55750 -> Molecular function: GO:0001729 [ceramide kinase activity] evidence: IEA
GeneID:55750 -> Molecular function: GO:0004143 [diacylglycerol kinase activity] evidence: IEA
GeneID:55750 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:55750 -> Molecular function: GO:0047620 [acylglycerol kinase activity] evidence: IEA
GeneID:55750 -> Biological process: GO:0007205 [protein kinase C-activating G-protein coupled receptor signaling pathway] evidence: IEA
GeneID:55750 -> Biological process: GO:0046486 [glycerolipid metabolic process] evidence: IEA
GeneID:55750 -> Biological process: GO:0046513 [ceramide biosynthetic process] evidence: IEA
GeneID:55750 -> Cellular component: GO:0031966 [mitochondrial membrane] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_060708 -> EC 2.7.1.107
NP_060708 -> EC 2.7.1.94
by
@meso_cacase at
DBCLS
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