2024-05-02 06:14:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004920 5105 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 2, mRNA. ACCESSION NM_004920 XM_002345084 XM_003119693 XM_003120900 XM_003120903 XR_111752 XR_115154 XR_115155 VERSION NM_004920.2 GI:335353808 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 5105) AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K., Gibbs,R.A. and Butte,N.F. TITLE Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population JOURNAL PLoS ONE 7 (12), E51954 (2012) PUBMED 23251661 REFERENCE 2 (bases 1 to 5105) AUTHORS Tomomura,M., Morita,N., Yoshikawa,F., Konishi,A., Akiyama,H., Furuichi,T. and Kamiguchi,H. TITLE Structural and functional analysis of the apoptosis-associated tyrosine kinase (AATYK) family JOURNAL Neuroscience 148 (2), 510-521 (2007) PUBMED 17651901 REMARK GeneRIF: This paper deals with the mouse ortholog. REFERENCE 3 (bases 1 to 5105) AUTHORS Lee,S., Bang,S., Song,K. and Lee,I. TITLE Differential expression in normal-adenoma-carcinoma sequence suggests complex molecular carcinogenesis in colon JOURNAL Oncol. Rep. 16 (4), 747-754 (2006) PUBMED 16969489 REFERENCE 4 (bases 1 to 5105) AUTHORS Honma,N., Asada,A., Takeshita,S., Enomoto,M., Yamakawa,E., Tsutsumi,K., Saito,T., Satoh,T., Itoh,H., Kaziro,Y., Kishimoto,T. and Hisanaga,S. TITLE Apoptosis-associated tyrosine kinase is a Cdk5 activator p35 binding protein JOURNAL Biochem. Biophys. Res. Commun. 310 (2), 398-404 (2003) PUBMED 14521924 REMARK GeneRIF: Apoptosis-associated tyrosine kinase is a Cdk5 activator p35 binding protein. REFERENCE 5 (bases 1 to 5105) AUTHORS Tomomura,M., Hasegawa,Y., Hashikawa,T., Tomomura,A., Yuzaki,M., Furuichi,T. and Yano,R. TITLE Differential expression and function of apoptosis-associated tyrosine kinase (AATYK) in the developing mouse brain JOURNAL Brain Res. Mol. Brain Res. 112 (1-2), 103-112 (2003) PUBMED 12670708 REFERENCE 6 (bases 1 to 5105) AUTHORS Tomomura,M., Fernandez-Gonzales,A., Yano,R. and Yuzaki,M. TITLE Characterization of the apoptosis-associated tyrosine kinase (AATYK) expressed in the CNS JOURNAL Oncogene 20 (9), 1022-1032 (2001) PUBMED 11314040 REFERENCE 7 (bases 1 to 5105) AUTHORS Baker,S.J., Sumerson,R., Reddy,C.D., Berrebi,A.S., Flynn,D.C. and Reddy,E.P. TITLE Characterization of an alternatively spliced AATYK mRNA: expression pattern of AATYK in the brain and neuronal cells JOURNAL Oncogene 20 (9), 1015-1021 (2001) PUBMED 11314039 REFERENCE 8 (bases 1 to 5105) AUTHORS Raghunath,M., Patti,R., Bannerman,P., Lee,C.M., Baker,S., Sutton,L.N., Phillips,P.C. and Damodar Reddy,C. TITLE A novel kinase, AATYK induces and promotes neuronal differentiation in a human neuroblastoma (SH-SY5Y) cell line JOURNAL Brain Res. Mol. Brain Res. 77 (2), 151-162 (2000) PUBMED 10837911 REFERENCE 9 (bases 1 to 5105) AUTHORS Seki,N., Hayashi,A., Hattori,A., Kozuma,S., Ohira,M., Hori,T. and Saito,T. TITLE Chromosomal assignment of a human apoptosis-associated tyrosine kinase gene on chromosome 17q25.3 by somatic hybrid analysis and fluorescence in situ hybridization JOURNAL J. Hum. Genet. 44 (2), 141-142 (1999) PUBMED 10083745 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AB014541.2, AK131395.1, AC115099.6 and BI256809.1. On or before Jun 13, 2011 this sequence version replaced gi:310132484, gi:310132485, gi:310113188, gi:310132488, gi:310132486, gi:310113189, gi:310113191, gi:4758641. Summary: The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AB014541.2 [ECO:0000332] 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 1-1964 AB014541.2 1-1964 1965-2449 AK131395.1 1869-2353 2450-2450 AC115099.6 108718-108718 c 2451-4831 AB014541.2 2451-4831 4832-4832 AC115099.6 104927-104927 c 4833-5081 AB014541.2 4833-5081 5082-5105 BI256809.1 286-309 FEATURES Location/Qualifiers source 1..5105 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q25.3" gene 1..5105 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /note="apoptosis-associated tyrosine kinase" /db_xref="GeneID:9625" /db_xref="HGNC:21" /db_xref="MIM:605276" exon 1..47 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 48..192 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" CDS 168..3983 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /EC_number="2.7.11.1" /note="isoform 2 is encoded by transcript variant 2; lemur tyrosine kinase 1; serine/threonine-protein kinase LMTK1; CDK5-binding protein; p35-binding protein; brain apoptosis-associated tyrosine kinase" /codon_start=1 /product="serine/threonine-protein kinase LMTK1 isoform 2" /protein_id="NP_004911.2" /db_xref="GI:335353809" /db_xref="CCDS:CCDS58607.1" /db_xref="GeneID:9625" /db_xref="HGNC:21" /db_xref="MIM:605276" /translation="
MAKQPGRSVQLLKSTDVGRHSLLYLKEIGRGWFGKVFLGEVNSGISSAQVVVKELQASASVQEQMQFLEEVQPYRALKHSNLLQCLAQCAEVTPYLLVMEFCPLGDLKGYLRSCRVAESMAPDPRTLQRMACEVACGVLHLHRNNFVHSDLALRNCLLTADLTVKIGDYGLAHCKYREDYFVTADQLWVPLRWIAPELVDEVHSNLLVVDQTKSGNVWSLGVTIWELFELGTQPYPQHSDQQVLAYTVREQQLKLPKPQLQLTLSDRWYEVMQFCWLQPEQRPTAEEVHLLLSYLCAKGATEAEEEFERRWRSLRPGGGGVGPGPGAAGPMLGGVVELAAASSFPLLEQFAGDGFHADGDDVLTVTETSRGLNFEYKWEAGRGAEAFPATLSPGRTARLQELCAPDGAPPGVVPVLSAHSPSLGSEYFIRLEEAAPAAGHDPDCAGCAPSPPATADQDDDSDGSTAASLAMEPLLGHGPPVDVPWGRGDHYPRRSLARDPLCPSRSPSPSAGPLSLAEGGAEDADWGVAAFCPAFFEDPLGTSPLGSSGAPPLPLTGEDELEEVGARRAAQRGHWRSNVSANNNSGSRCPESWDPVSAGGHAEGCPSPKQTPRASPEPGYPGEPLLGLQAASAQEPGCCPGLPHLCSAQGLAPAPCLVTPSWTETASSGGDHPQAEPKLATEAEGTTGPRLPLPSVPSPSQEGAPLPSEEASAPDAPDALPDSPTPATGGEVSAIKLASALNGSSSSPEVEAPSSEDEDTAEATSGIFTDTSSDGLQARRPDVVPAFRSLQKQVGTPDSLDSLDIPSSASDGGYEVFSPSATGPSGGQPRALDSGYDTENYESPEFVLKEAQEGCEPQAFAELASEGEGPGPETRLSTSLSGLNEKNPYRDSAYFSDLEAEAEATSGPEKKCGGDRAPGPELGLPSTGQPSEQVCLRPGVSGEAQGSGPGEVLPPLLQLEGSSPEPSTCPSGLVPEPPEPQGPAKVRPGPSPSCSQFFLLTPVPLRSEGNSSEFQGPPGLLSGPAPQKRMGGPGTPRAPLRLALPGLPAALEGRPEEEEEDSEDSDESDEELRCYSVQEPSEDSEEEAPAVPVVVAESQSARNLRSLLKMPSLLSETFCEDLERKKKAVSFFDDVTVYLFDQESPTRELGEPFPGAKESPPTFLRGSPGSPSAPNRPQQADGSPNGSTAEEGGGFAWDDDFPLMTAKAAFAMALDPAAPAPAAPTPTPAPFSRFTVSPAPTSRFSITHVSDSDAESKRGPEAGAGGESKEA
" misc_feature 240..1043 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /note="Protein kinase; unclassified specificity; Region: STYKc; smart00221" /db_xref="CDD:197583" misc_feature 243..1049 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /note="Catalytic domain of the Protein Tyrosine Kinases, Apoptosis-associated tyrosine kinases 1 and 3; Region: PTKc_Aatyk1_Aatyk3; cd05087" /db_xref="CDD:173646" misc_feature order(249..263,273..275,318..320,324..326,462..473, 480..485,615..617,627..632,636..638,669..671,723..737, 762..764,885..887) /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /note="active site" /db_xref="CDD:173646" misc_feature order(249..254,258..263,273..275,318..320,324..326, 462..473,480..485,627..632,636..638,669..671) /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /note="ATP binding site [chemical binding]; other site" /db_xref="CDD:173646" misc_feature order(615..617,627..629,723..737,762..764,885..887) /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /note="substrate binding site [chemical binding]; other site" /db_xref="CDD:173646" misc_feature 666..743 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /note="activation loop (A-loop); other site" /db_xref="CDD:173646" exon 193..272 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 273..391 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 392..479 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 480..613 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 614..698 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 699..820 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 821..970 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 971..3593 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 3594..3741 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 3742..3942 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" exon 3943..5090 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /inference="alignment:Splign:1.39.8" variation 4832 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" /replace="a" /replace="g" /db_xref="dbSNP:1801833" polyA_site 5090 /gene="AATK" /gene_synonym="AATYK; AATYK1; LMR1; LMTK1; p35BP" ORIGIN
gccaccaggtgaaggtccaaggctgctggggcagatggcggtggcaggagtttgagaatgcggagggggacgagtacgcagccgacctggcgcagggctccccggccacggcagcacagaacgggcccgacgtgtacgtcctgccactcacggaggtctccttgcccatggccaagcagcctgggcgctcagtgcagctcctcaagtccacagacgtgggccggcacagcctcctgtacctgaaggaaatcggccgtggctggttcgggaaggtgttcctgggggaggtgaactctggcatcagcagtgcccaggtggtggtgaaggagctgcaggctagtgccagcgtgcaggagcagatgcagttcctggaggaggtgcagccctacagggccctgaagcacagcaacctgctccagtgcctggcccagtgcgccgaggtgacgccctacctgctggtgatggagttctgcccactgggggacctcaagggctacctgcggagctgccgggtggcggagtccatggctcccgacccccggaccctgcagcgcatggcctgtgaggtggcctgtggcgtcctgcaccttcatcgcaacaatttcgtgcacagcgacctggccctgcggaactgcctgctcacggctgacctgacggtgaagattggtgactatggcctggctcactgcaagtacagagaggactacttcgtgactgccgaccagctgtgggtgcctctgcgctggatcgcgccagagctggtggacgaggtgcatagcaacctgctcgtcgtggaccagaccaagagcgggaatgtgtggtccctgggcgtgaccatctgggagctctttgagctgggcacgcagccctatccccagcactcggaccagcaggtgctggcgtacacggtccgggagcagcagctcaagctgcccaagccccagctgcagctgaccctgtcggaccgctggtacgaggtgatgcagttctgctggctgcagcccgagcagcggcccacagccgaggaggtgcacctgctgctgtcctacctgtgtgccaagggcgccaccgaagcagaggaggagtttgaacggcgctggcgctctctgcggcccggcgggggcggcgtggggcccgggcccggtgcggcggggcccatgctgggcggcgtggtggagctcgccgctgcctcgtccttcccgctgctggagcagttcgcgggcgacggcttccacgcggacggcgacgacgtgctgacggtgaccgagaccagccgaggcctcaattttgagtacaagtgggaggcgggccgcggcgcggaggccttcccggccacgctgagccctggccgcaccgcacgcctgcaggagctgtgcgcccccgacggcgcgcccccgggcgtggttccggtgctcagcgcgcacagcccgtcgctgggcagcgagtacttcatccgcctagaggaggccgcacccgccgccggccacgaccctgactgcgccggctgcgcccccagtccacctgccaccgcggaccaggacgacgactctgacggcagcaccgccgcctcgctggccatggagccgctgctgggccacgggccacccgtcgacgtcccctggggccgcggcgaccactaccctcgcagaagcttggcgcgggacccgctctgcccctcacgctctccctcgccctcggcggggcccctgagtctggcggagggaggagcggaggatgcagactggggcgtggccgccttctgtcctgccttcttcgaggacccactgggcacgtcccctttggggagctcaggggcgcccccgctgccgctgactggcgaggatgagctagaggaggtgggagcgcggagggccgcccagcgcgggcactggcgctccaacgtgtcagccaacaacaacagcggcagccgctgtccagagtcctgggaccccgtctctgcgggcggccacgctgagggctgccccagtccaaagcagaccccacgggcctcccccgagccggggtaccctggagagcctctgcttgggctccaggcagcctctgcccaggagccaggctgctgccccggcctccctcatctatgctctgcccagggcctggcacctgctccctgcctggttacaccctcctggacagagacagccagtagtgggggtgaccacccgcaggcagagcccaagcttgccacggaggctgagggcactaccggaccccgcctgccccttccttccgtcccctccccatcccaggagggagccccacttccctcggaggaggccagtgcccccgacgcccctgatgccctgcctgactctcccacgcctgctactggtggcgaggtgtctgccatcaagctggcttctgccctgaatggcagcagcagctctcccgaggtggaggcacccagcagtgaggatgaggacacggccgaggccacctcaggcatcttcaccgacacgtccagcgacggcctgcaggccaggaggccggatgtggtgccagccttccgctctctgcagaagcaggtggggacccccgactccctggactccctggacatcccgtcctcagccagtgatggtggctatgaggtcttcagcccgtcggccactggcccctctggagggcagccgcgagcgctggacagtggctatgacaccgagaactatgagtcccctgagtttgtgctcaaggaggcgcaggaagggtgtgagccccaggcctttgcggagctggcctcagagggtgagggccccgggcccgagacacggctctccacctccctcagtggcctcaacgagaagaatccctaccgagactctgcctacttctcagacctcgaggctgaggccgaggccacctcaggcccagagaagaagtgcggcggggaccgagcccccgggccagagctgggcctgccgagcactgggcagccgtctgagcaggtctgtctcaggcctggggtttccggggaggcacaaggctctggccccggggaggtgctgcccccactgctgcagcttgaagggtcctccccagagcccagcacctgcccctcgggcctggtcccagagcctccggagccccaaggcccagccaaggtgcggcctgggcccagccccagctgctcccagtttttcctgctgaccccggttccgctgagatcagaaggcaacagctctgagttccaggggcccccaggactgttgtcagggccggccccacaaaagcggatggggggcccaggcacccccagagccccactccgcctggctctgcccggcctccctgcggccttggagggccggccggaggaggaggaggaggacagtgaggacagcgacgagtctgacgaggagctccgctgctacagcgtccaggagcctagcgaggacagcgaagaggaggcgccggcggtgcccgtggtggtggctgagagccagagcgcgcgcaacctgcgcagcctgctcaagatgcccagcctgctgtccgagaccttctgcgaggacctggaacgcaagaagaaggccgtgtccttcttcgacgacgtcaccgtctacctctttgaccaggaaagccccacccgggagctcggggagcccttcccgggcgccaaggaatcgccccctacgttccttagggggagccccggctctcccagcgcccccaaccggccgcagcaggctgatggctccccaaatggctccacagcggaagagggtggtgggttcgcgtgggacgacgacttcccgctgatgacggccaaggcagccttcgccatggccctagacccggccgcacccgccccggctgcgcccacgcccacgcccgctcccttctcgcgcttcacggtgtcgcccgcgcccacgtcccgcttctccatcacgcacgtgtctgactcggacgccgagtccaagagaggacctgaagctggtgccgggggtgagagtaaagaggcttgagacctgggcagctcctgcccctcaaggctggcgtcaccggagcccctgccaggcagcagcgaggatggtgaccgagaaggtggggaccacgtcctggtggctgttggcagcagattcaggtgcctctgccccacgcggtgtcctggagaagcccgtgggatgagaggccctggatggtagatcggccatgctccgccccagaggcagaattcgtctgggcttttaggcttgctgctagcccctgggggcgcctggagccacagtgggtgtctgtacacacatacacactcaaaaggggccagtgcccctgggcacggcggcccccaccctctgccctgcctgcctggcctcggaggacccgcatgccccatccggcagctcctccggtgtgctcacaggacacttaaaccaggacgaggcatggccccgagacactggcaggtttgtgagcctcttcccaccccctgtgcccccacccttgcctggttcctggtggctcagggcaaggagtggccctgggcgcccgtgtcggtcctgtttccgctgcccttatctcaaagtccgtggctgtttccccttcactgactcagctagacccgtaagcccacccttcccacagggaacaggctgctcccacctgggtcccgctgtggccacggtgggcagcccaaaagatcaggggtggaggggcttccaggctgtactcctgccccgtgggccccgttctagaggtgcccttggcaggaccgtgcaggcagctcccctctgtggggcagtatctggtcctgtgccccagctgccaaaggagagtgggggccatgccccgcagtcagtgttggggggctcctacctacagggagagggatggtggggaaggggtggagctgggggcagggcagcacagggaatatttttgtaactaactaactgctgtggttggagcgaatggaagttgggtgattttaagttattgttgccaaagagatgtaaagtttattgttgcttcgcagggggatttgttttgtgttttgtttgaggcttagaacgctggtgcaatgttttcttgttccttgttttttaagagaaatgaagctaagacaaaagaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:9625 -> Molecular function: GO:0004674 [protein serine/threonine kinase activity] evidence: IEA GeneID:9625 -> Molecular function: GO:0004713 [protein tyrosine kinase activity] evidence: IEA GeneID:9625 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:9625 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA GeneID:9625 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:9625 -> Biological process: GO:0007420 [brain development] evidence: IEA GeneID:9625 -> Biological process: GO:0030517 [negative regulation of axon extension] evidence: IEA GeneID:9625 -> Biological process: GO:0032482 [Rab protein signal transduction] evidence: IEA GeneID:9625 -> Biological process: GO:0038083 [peptidyl-tyrosine autophosphorylation] evidence: IEA GeneID:9625 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:9625 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IEA GeneID:9625 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:9625 -> Cellular component: GO:0044295 [axonal growth cone] evidence: IEA GeneID:9625 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IEA GeneID:9625 -> Cellular component: GO:0055037 [recycling endosome] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_004911 -> EC 2.7.11.1
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