2025-05-09 17:30:37, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001077242 1774 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA. ACCESSION NM_001077242 VERSION NM_001077242.1 GI:116256341 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 1774) AUTHORS Gawin,B., Niederfuhr,A., Schumacher,N., Hummerich,H., Little,P.F. and Gessler,M. TITLE A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1 JOURNAL Genome Res. 9 (11), 1074-1086 (1999) PUBMED 10568747 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC030970.1 and AJ245600.1. Transcript Variant: This variant (1) represents the more frequently occurring transcript and it encodes the longer protein (isoform 1). ##Evidence-Data-START## Transcript exon combination :: BC030970.1, BC011446.1 [ECO:0000332] 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 1-45 BC030970.1 1-45 46-874 AJ245600.1 1-829 875-1434 BC030970.1 875-1434 1435-1774 AJ245600.1 1390-1729 FEATURES Location/Qualifiers source 1..1774 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p13" gene 1..1774 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /note="DEP domain containing 7" /db_xref="GeneID:91614" /db_xref="HGNC:29899" /db_xref="MIM:612294" exon 1..165 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /inference="alignment:Splign:1.39.8" variation 27 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:138524582" variation 49 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:375775065" variation 57 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="g" /replace="t" /db_xref="dbSNP:144143644" variation 82 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:376201426" variation 92 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:115832789" CDS 93..1628 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /note="isoform 1 is encoded by transcript variant 1; DEP domain-containing protein 7; novel 58.3 KDA protein; dJ85M6.4 (novel 58.3 KDA protein)" /codon_start=1 /product="DEP domain-containing protein 7 isoform 1" /protein_id="NP_001070710.1" /db_xref="GI:116256342" /db_xref="CCDS:CCDS41632.1" /db_xref="GeneID:91614" /db_xref="HGNC:29899" /db_xref="MIM:612294" /translation="
MATVQEKAAALNLSALHSPAHRPPGFSVAQKPFGATYVWSSIINTLQTQVEVKKRRHRLKRHNDCFVGSEAVDVIFSHLIQNKYFGDVDIPRAKVVRVCQALMDYKVFEAVPTKVFGKDKKPTFEDSSCSLYRFTTIPNQDSQLGKENKLYSPARYADALFKSSDIRSASLEDLWENLSLKPANSPHVNISATLSPQVINEVWQEETIGRLLQLVDLPLLDSLLKQQEAVPKIPQPKRQSTMVNSSNYLDRGILKAYSDSQEDEWLSAAIDCLEYLPDQMVVEISRSFPEQPDRTDLVKELLFDAIGRYYSSREPLLNHLSDVHNGIAELLVNGKTEIALEATQLLLKLLDFQNREEFRRLLYFMAVAANPSEFKLQKESDNRMVVKRIFSKAIVDNKNLSKGKTDLLVLFLMDHQKDVFKIPGTLHKIVSVKLMAIQNGRDPNRDAGYIYCQRIDQRDYSNNTEKTTKDELLNLLKTLDEDSKLSAKEKKKLLGQFYKCHPDIFIEHFGD
" misc_feature 207..491 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in DEPDC4-like proteins. DEPDC4 is a DEP domain containing protein of unknown function; Region: DEP_DEPDC4; cd04446" /db_xref="CDD:80329" misc_feature 546..548 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q96QD5.1); phosphorylation site" misc_feature 672..1373 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /note="RhoGAP_BRCC3-like: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of BRCC3-like proteins. This subgroup also contains two groups of closely related proteins, BRCC3 and DEPDC7, which both contain a C-terminal RhoGAP-like domain...; Region: RhoGAP_BRCC3-like; cd04405" /db_xref="CDD:63874" misc_feature order(855..857,1011..1013,1023..1025,1233..1235, 1242..1247,1308..1310) /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /note="putative GTPase interaction site [polypeptide binding]; other site" /db_xref="CDD:63874" misc_feature 855..857 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /note="catalytic residue [active]" /db_xref="CDD:63874" exon 166..556 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /inference="alignment:Splign:1.39.8" variation 173 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:375593314" variation 198 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:368794067" variation 204 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:79199473" variation 231 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:200073795" variation 264 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:374733737" variation 270 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="c" /db_xref="dbSNP:369053359" variation 274 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:200057806" variation 289 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="g" /replace="t" /db_xref="dbSNP:138325318" variation 329 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="t" /db_xref="dbSNP:74559182" variation 380 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:369355382" variation 394 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:372513278" variation 463 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:376814687" variation 472 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:371496330" variation 482 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:202173561" variation 543 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:374632275" exon 557..684 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /inference="alignment:Splign:1.39.8" variation 584 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:367903882" variation 624 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:200200424" variation 638 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="t" /db_xref="dbSNP:17852860" variation 643 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:200498367" variation 666 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:34161108" exon 685..874 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /inference="alignment:Splign:1.39.8" variation 688 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:144655252" variation 703 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="t" /db_xref="dbSNP:375290990" variation 721 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:201784282" variation 725 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:371231815" variation 782 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:190343171" variation 792 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="g" /db_xref="dbSNP:374772959" variation 804 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:199885269" variation 805 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:148509454" variation 843 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="g" /db_xref="dbSNP:373000064" variation 855 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="t" /db_xref="dbSNP:201199439" variation 870 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="g" /replace="t" /db_xref="dbSNP:369472957" exon 875..1086 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /inference="alignment:Splign:1.39.8" variation 941 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="t" /db_xref="dbSNP:202124209" STS 952..1079 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /standard_name="AB070065" /db_xref="UniSTS:480067" variation 956 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:36077875" variation 973 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:370729400" variation 987 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:75979055" variation 1025..1026 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="" /replace="g" /db_xref="dbSNP:35988670" variation 1032 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:377186754" variation 1035 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:370596448" variation 1058 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:966191" exon 1087..1229 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /inference="alignment:Splign:1.39.8" variation 1098 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="t" /db_xref="dbSNP:371828635" variation 1100 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="g" /replace="t" /db_xref="dbSNP:183771544" variation 1166 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:375119204" variation 1188 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="g" /replace="t" /db_xref="dbSNP:369520659" exon 1230..1355 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /inference="alignment:Splign:1.39.8" variation 1276 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:374663038" exon 1356..1434 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /inference="alignment:Splign:1.39.8" variation 1396 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="t" /db_xref="dbSNP:373073447" variation 1402 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:376408973" variation 1409 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:370490867" variation 1424 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="g" /replace="t" /db_xref="dbSNP:185768707" exon 1435..1755 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /inference="alignment:Splign:1.39.8" STS 1446..1631 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /standard_name="RH99094" /db_xref="UniSTS:83970" variation 1449 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:148565354" variation 1453 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="g" /replace="t" /db_xref="dbSNP:374445520" variation 1464 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:202020074" variation 1477 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:368852267" variation 1483 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:17852859" variation 1504 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:374403792" variation 1571 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="g" /replace="t" /db_xref="dbSNP:367948856" variation 1580 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:199502210" variation 1585 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:142956576" variation 1595 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:377079128" variation 1624 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="c" /db_xref="dbSNP:201413831" variation 1643 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:202246545" variation 1652 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:151112215" variation 1667 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="t" /db_xref="dbSNP:200612237" variation 1705 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="c" /replace="t" /db_xref="dbSNP:1059432" variation 1712 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" /replace="a" /replace="g" /db_xref="dbSNP:374578661" polyA_signal 1735..1740 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" polyA_site 1755 /gene="DEPDC7" /gene_synonym="dJ85M6.4; TR2" ORIGIN
gagccacgccccgcacagttaacagacgggcgctcagggagctagggagctgtgaagctgctggaggagttggcgtccggggagcaagggccatggccaccgtgcaggagaaggctgctgcgctgaacctctcggctctccacagccccgcgcacaggcctccgggtttcagtgtagctcagaagccatttggagccacgtatgtatggagcagcatcataaacactcttcaaacacaagtggaagtgaaaaaacgaaggcaccgtttaaaacgacataatgactgctttgttggttcagaagctgtggatgtcattttttctcacctaattcagaataagtattttggtgatgtagatattcctcgagccaaagtggtgagagtgtgtcaagcgcttatggactacaaagtatttgaagcagttccaaccaaagtctttggaaaagacaaaaaacctacatttgaagatagtagttgcagcctttatagattcaccacaatacctaaccaagacagtcagttaggcaaagagaacaaactatattcacctgccaggtatgcagatgcattatttaagtcatccgatatcagatcagccagtttagaggacctgtgggaaaatctgagtttaaagcctgccaactcccctcatgtaaatatctctgcaaccttgtctccacaagttattaatgaagtgtggcaagaagaaacaattgggcgtctactacaacttgtagaccttccacttcttgactccttactgaaacagcaagaggctgtacctaaaattcctcaacctaagaggcagtccaccatggtcaacagcagtaactatctggatcgagggattctcaaggcttatagtgactctcaggaagatgagtggctctcggcagcaattgactgtttagaataccttccagaccaaatggtggtggaaataagcagaagctttcctgagcaaccagaccgaacagacttagtgaaagaacttctgtttgatgccattggcagatattacagtagtagggaacctctgttaaatcacttatctgacgttcataatggaattgcagaactcttagtgaatgggaagacggaaatagctttagaagctacccagctccttctaaagcttttagatttccaaaatagagaagaatttagaagactactgtatttcatggctgttgcagcaaatccttctgagtttaaattacagaaagaaagtgacaaccgaatggttgtgaaaaggatattctcaaaagctattgttgacaataaaaatttatccaaaggcaaaacagatcttctggtactctttttaatggatcatcagaaagatgtttttaagattcctggaactctacataaaattgtaagtgttaagcttatggccatacagaacggaagagatccaaatagagatgcaggatatatttattgccagagaattgatcaacgtgactattccaacaatacagagaagacaaccaaagatgagctgttgaatttactaaaaactcttgatgaggattcaaaactttctgccaaagagaagaaaaaattgctaggtcaattctataagtgtcacccagacatctttattgagcattttggagactgagtttttaatatctgtatataagttgtgtattttaagaataaattatgtatcctaaatatccaatcacatttgtaagcgtggaagctctaaatttgaaactgtacttaataaaaatttttttgtataaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:91614 -> Molecular function: GO:0003674 [molecular_function] evidence: ND GeneID:91614 -> Biological process: GO:0007264 [small GTPase mediated signal transduction] evidence: TAS GeneID:91614 -> Biological process: GO:0008150 [biological_process] evidence: ND GeneID:91614 -> Biological process: GO:0051056 [regulation of small GTPase mediated signal transduction] evidence: TAS GeneID:91614 -> Cellular component: GO:0005575 [cellular_component] evidence: ND GeneID:91614 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
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