2024-03-28 21:12:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014857 3022 bp mRNA linear PRI 26-MAY-2013 DEFINITION Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA. ACCESSION NM_014857 VERSION NM_014857.4 GI:344217730 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 3022) AUTHORS Kim,J.H., Jung,S.H., Bae,J.S., Lee,H.S., Yim,S.H., Park,S.Y., Bang,S.Y., Hu,H.J., Shin,H.D., Bae,S.C. and Chung,Y.J. TITLE Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women JOURNAL Arthritis Rheum. 65 (4), 1055-1063 (2013) PUBMED 23335107 REMARK GeneRIF: Deletion variants of RABGAP1L were found to be significantly associated with SLE in Korean women. REFERENCE 2 (bases 1 to 3022) AUTHORS Olson,J.E., Wang,X., Pankratz,V.S., Fredericksen,Z.S., Vachon,C.M., Vierkant,R.A., Cerhan,J.R. and Couch,F.J. TITLE Centrosome-related genes, genetic variation, and risk of breast cancer JOURNAL Breast Cancer Res. Treat. 125 (1), 221-228 (2011) PUBMED 20508983 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (bases 1 to 3022) AUTHORS Oguri,M., Kato,K., Yokoi,K., Yoshida,T., Watanabe,S., Metoki,N., Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y. TITLE Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals JOURNAL Am. J. Hypertens. 23 (1), 70-77 (2010) PUBMED 19851296 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 3022) AUTHORS Ishibashi,K., Kanno,E., Itoh,T. and Fukuda,M. TITLE Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity JOURNAL Genes Cells 14 (1), 41-52 (2009) PUBMED 19077034 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DB087378.1, AK095838.2, AB449904.1, BC012094.1 and BG193682.1. On Aug 25, 2011 this sequence version replaced gi:78217385. Transcript Variant: This variant (1) contains novel exon structure at both its 5' and 3' ends, and thus differs in both UTRs and in the 5' and 3' coding regions, compared to variant 4. The encoded isoform (A) has distinct N- and C-termini, and is significantly longer than isoform C. ##Evidence-Data-START## Transcript exon combination :: AK095838.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-130 DB087378.1 1-130 131-1208 AK095838.2 28-1105 1209-2725 AB449904.1 932-2448 2726-3007 BC012094.1 491-772 3008-3022 BG193682.1 397-411 FEATURES Location/Qualifiers source 1..3022 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q24" gene 1..3022 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /note="RAB GTPase activating protein 1-like" /db_xref="GeneID:9910" /db_xref="HGNC:24663" /db_xref="MIM:609238" exon 1..244 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 86 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:191678903" variation 91..92 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="" /replace="ctccc" /db_xref="dbSNP:150254430" variation 133 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:372474719" variation 198 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="g" /replace="t" /db_xref="dbSNP:376978379" exon 245..415 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 254 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:199622723" variation 267 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:2103640" variation 273 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:373434556" CDS 278..2725 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /note="isoform A is encoded by transcript variant 1; TBC1 domain family, member 18; expressed in hematopoietic cells, heart, liver (HLL)" /codon_start=1 /product="rab GTPase-activating protein 1-like isoform A" /protein_id="NP_055672.3" /db_xref="GI:78217386" /db_xref="CCDS:CCDS1314.1" /db_xref="GeneID:9910" /db_xref="HGNC:24663" /db_xref="MIM:609238" /translation="
MEVRASLQKVSGSSDSVATMNSEEFVLVPQYADDNSTKHEEKPQLKIVSNGDEQLEKAMEEILRDSEKRPSSLLVDCQSSSEISDHSFGDIPASQTNKPSLQLILDPSNTEISTPRPSSPGGLPEEDSVLFNKLTYLGCMKVSSPRNEVEALRAMATMKSSSQYPFPVTLYVPNVPEGSVRIIDQSSNVEIASFPIYKVLFCARGHDGTTESNCFAFTESSHGSEEFQIHVFSCEIKEAVSRILYSFCTAFKRSSRQVSDVKDSVIPTPDSDVFTFSVSLEVKEDDGKGNFSPVPKDRDKFYFKLKQGIEKKVVITVQQLSNKELAIERCFGMLLSPGRNVKNSDMHLLDMESMGKSYDGRAYVITGMWNPNAPVFLALNEETPKDKQVYMTVAVDMVVTEVVEPVRFLLETVVRVYPANERFWYFSRKTFTETFFMRLKQSEGKGHTNAGDAIYEVVSLQRESDKEEPVTPTSGGGPMSPQDDEAEEESDNELSSGTGDVSKDCPEKILYSWGELLGKWHSNLGARPKGLSTLVKSGVPEALRAEVWQLLAGCHDNQAMLDRYRILITKDSAQESVITRDIHRTFPAHDYFKDTGGDGQESLYKICKAYSVYDEDIGYCQGQSFLAAVLLLHMPEEQAFCVLVKIMYDYGLRDLYRNNFEDLHCKFYQLERLMQEQLPDLHSHFSDLNLEAHMYASQWFLTLFTAKFPLCMVFHIIDLLLCEGLNIIFHVALALLKTSKEDLLQADFEGALKFFRVQLPKRYRAEENARRLMEQACNIKVPTKKLKKYEKEYQTMRESQLQQEDPMDRYKFVYL
" misc_feature 662..1033 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /note="GAPCenA Phosphotyrosine-binding (PTB) domain; Region: GAPCenA; cd01211" /db_xref="CDD:176287" misc_feature order(662..691,779..832,845..853,863..889,914..940, 956..982,992..1033) /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /note="PTB core; other site" /db_xref="CDD:176287" misc_feature order(875..883,887..889,998..1000,1010..1012,1019..1021, 1031..1033) /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /note="peptide binding site [polypeptide binding]; other site" /db_xref="CDD:176287" misc_feature order(875..877,935..937,956..958) /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /note="phosphotyrosine binding site [chemical binding]; other site" /db_xref="CDD:176287" misc_feature 1145..1543 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /note="Kinesin protein; Region: DUF3694; pfam12473" /db_xref="CDD:193043" misc_feature 1688..1690 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (Q5R372.1); phosphorylation site" misc_feature 1715..1717 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q5R372.1); phosphorylation site" misc_feature 1745..1747 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q5R372.1); phosphorylation site" misc_feature <1823..2533 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /note="GTPase-activating protein [General function prediction only]; Region: COG5210" /db_xref="CDD:34807" misc_feature 1898..2509 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /note="Rab-GTPase-TBC domain; Region: RabGAP-TBC; pfam00566" /db_xref="CDD:201311" variation 320 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:147580824" variation 358 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:141470344" variation 369 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="t" /db_xref="dbSNP:145032473" variation 373 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:138791107" exon 416..608 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 475 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:140528551" variation 476 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:138469250" variation 511 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:17854182" variation 517 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:201091388" variation 534 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:199921822" variation 580 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="g" /replace="t" /db_xref="dbSNP:201854323" variation 598 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:189440280" exon 609..819 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 642..643 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="" /replace="c" /db_xref="dbSNP:34416766" variation 660 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:374978225" variation 668 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:367685627" variation 714 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:201323511" variation 760 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:370425662" variation 766 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:200402801" variation 783 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:372332127" variation 802 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:376043803" variation 810 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="g" /replace="t" /db_xref="dbSNP:368590454" exon 820..994 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 830 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:368672299" variation 832 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:200126832" variation 841 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:142743501" variation 867 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:143661013" variation 883 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:140628487" variation 906 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:138264771" variation 940 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:376064634" variation 949 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:144504710" variation 989 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:371333673" variation 990 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:373653316" exon 995..1152 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 1032 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:148341321" variation 1033 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:147517172" variation 1035 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:377226119" variation 1076 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:201387814" variation 1080 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="c" /db_xref="dbSNP:368432186" variation 1084 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:142774633" variation 1085 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:371240194" variation 1106 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:7339904" variation 1107 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="g" /replace="t" /db_xref="dbSNP:143354894" variation 1120 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:146737785" variation 1122 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:375652492" variation 1130 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:200430317" exon 1153..1263 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 1176 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="c" /db_xref="dbSNP:151025740" variation 1210 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:140942610" exon 1264..1330 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" exon 1331..1433 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 1342 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:202068518" variation 1344 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="c" /db_xref="dbSNP:12724520" variation 1392 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:141892306" variation 1411 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="c" /db_xref="dbSNP:199535098" variation 1415 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="c" /db_xref="dbSNP:12724656" exon 1434..1600 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 1498 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:369535967" variation 1507 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:138510261" variation 1508 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:148684223" variation 1570 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="c" /db_xref="dbSNP:201532986" variation 1579 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:17854181" exon 1601..1742 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 1623 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="t" /db_xref="dbSNP:142728115" variation 1640 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="t" /db_xref="dbSNP:370068818" variation 1662 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:373960756" variation 1672 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="c" /db_xref="dbSNP:199975855" variation 1679 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:377380635" variation 1701 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:142260750" exon 1743..1836 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 1773 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:377531997" variation 1775 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:201974181" variation 1809 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:370164900" variation 1830..1831 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="" /replace="a" /db_xref="dbSNP:35176576" exon 1837..1987 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 1857 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:147972067" variation 1860 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:150517419" variation 1867 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:182025880" variation 1874 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:146229419" variation 1877 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:371618472" variation 1904 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:374115211" variation 1908 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:367655060" variation 1961 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:201615958" variation 1969 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="c" /db_xref="dbSNP:201455300" variation 1971 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:371880631" exon 1988..2101 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 2005 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:370651815" variation 2038 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:140750799" variation 2074 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:112915481" variation 2077 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:61747504" exon 2102..2176 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 2120 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:145274426" variation 2131 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:368229419" variation 2168 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:74126862" exon 2177..2302 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 2251 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:141447470" variation 2257 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:139844710" exon 2303..2446 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 2323 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="g" /replace="t" /db_xref="dbSNP:147255156" variation 2427 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:201949597" exon 2447..2488 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" exon 2489..2617 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 2581 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:149852136" variation 2585 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:368502977" variation 2602 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="g" /db_xref="dbSNP:199639499" variation 2613 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="g" /replace="t" /db_xref="dbSNP:199733197" exon 2618..2710 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" variation 2624 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="t" /db_xref="dbSNP:369879598" variation 2653 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:373000781" variation 2693 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:201224754" variation 2710 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="a" /replace="g" /db_xref="dbSNP:148197893" exon 2711..3010 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /inference="alignment:Splign:1.39.8" STS 2849..3007 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /standard_name="SHGC-75933" /db_xref="UniSTS:75349" variation 2895 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="g" /replace="t" /db_xref="dbSNP:115619969" variation 2980 /gene="RABGAP1L" /gene_synonym="HHL; RP1-102G20.1; TBC1D18" /replace="c" /replace="t" /db_xref="dbSNP:373145677" ORIGIN
tggacgagcgcgcttccgacccgccgccaccgcctcctcccctccttctcggcccgccccctccctcgcctcttcctgccaggcggcccttctcccctcccctctcagttccctccgccctcctcgggctccagcggtggcggagcgaacgggaccggcccggcttcagagcgcgaggtggagggtggaacgcgggcgcctgaaggagttgttgtctcggcagcgcccgcggagacgtgaagaggtggttgtgggaagagaagtttgcagaactgaaatggaggtcagagcttcattacagaaggttagtggatcatctgattctgtggctacaatgaacagtgaagaatttgttttggttcctcagtatgcagatgataattctacaaaacatgaagaaaaacctcaactgaagatagtttctaatggtgatgaacaattggaaaaagccatggaagagattttgagagattccgagaaaaggccaagcagtcttcttgttgattgtcaaagttccagtgagatttcagaccattcgtttggagatattccagccagccaaacaaataagccatctcttcagttaattttggatccgtctaacacagaaatttctacacccagaccatcttctccaggtggactacctgaagaagatagtgttttatttaataaactgacctacttaggatgtatgaaggtttcttccccacgtaatgaagtagaggctttacgggcaatggcaaccatgaaatcttccagtcaatacccctttcctgttaccctgtatgtaccaaatgttccagaaggttctgtgagaattatagaccaatccagcaatgtggagatagcatcttttccaatctataaggtgttattctgtgcacgtggacatgacggaacaacagagagcaattgctttgcatttacagagagttcccatggttcggaagaatttcagatacatgttttctcctgtgaaattaaagaggcagtaagcagaattttgtacagtttctgtacagcattcaaacgttcttccagacaagtgtctgatgttaaagactcagttattcctacccccgacagtgatgtgtttaccttcagtgtctccttggaggtaaaagaagacgatggaaaaggaaactttagccctgtgcctaaggatagagataaattttatttcaaattaaagcaaggaatagagaagaaggttgtgattacagtgcagcaactttctaacaaagaattagctattgaaagatgttttggaatgttattaagcccaggtcgaaacgtgaagaacagtgacatgcatttactggatatggaatccatgggaaagagctatgatgggagagcttatgtcatcactggcatgtggaaccccaatgcaccagtatttctggcacttaacgaggaaaccccaaaagataagcaagtatacatgactgtggcagtggatatggtagtcacagaggtggtggagcctgttcgctttctcctggagacagtagtccgtgtgtaccctgcaaatgagcgattttggtatttcagcagaaagactttcacagagactttcttcatgagattgaaacagtctgagggaaaaggccataccaatgctggagatgcaatatatgaggtggtgagtctacagcgagagtctgacaaggaggaaccagtcactcctactagtggagggggtccaatgtcaccccaggatgatgaagcagaagaggagagtgataatgaactctcaagtggaacaggtgatgtgtctaaggattgtcctgagaagatcctgtattcttggggagagttgctaggaaaatggcacagtaaccttggtgcacgaccgaaagggctgtctactctggtgaagagtggtgtccctgaagcattgagggcagaggtatggcagttattggcaggctgccatgacaaccaggcaatgctggatagataccgaattcttatcacaaaggactcagcccaggagagtgttattactcgagatattcatcgtacatttcccgcacatgattactttaaagatactggaggagatggtcaagaatcgctctataagatctgcaaggcctactctgtgtatgatgaagacattgggtactgtcaagggcagtcttttcttgctgctgtattactgctgcatatgccagaggaacaagcattctgtgttttggtgaaaatcatgtacgactatggtttgagagacctctacagaaacaacttcgaagatcttcattgcaaattctaccagttggagagactaatgcaggaacagctaccggacctgcatagccatttttctgatctgaacctggaagctcatatgtatgcatcccagtggtttctcactctttttactgccaagttcccactctgcatggtgttccacatcattgacttactgctttgtgagggtttgaacataatctttcatgtagctttggctctcctaaagacctcaaaggaagaccttctgcaggctgattttgaaggtgctttaaagttctttagagttcagcttccaaagagatacagggcagaggaaaatgcaagaagactgatggagcaggcttgcaatattaaagtaccaaccaagaagctgaagaaatatgagaaagaatatcagacaatgcgagagagtcagctgcaacaggaagacccaatggatagatacaagtttgtatatttgtaggtaactccagctgttgcatttatactgggaatcttcataagaagctgagagaaagagaggggaaaaagaaagtggctttctactttcaaaaatgaaacaaaaaggaaaaatggcaaagtactgttttagctgtgcatgtcatatccacaaagacttttagcaggtgaactgttccaagactgacacaaggatgtttcaaacttgcctctgtctgtagaaaatgttaaaaataccaactcacttggaaggaaaaataaaaatcacaaaggtatattgagcacagtaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:9910 -> Molecular function: GO:0005097 [Rab GTPase activator activity] evidence: IDA GeneID:9910 -> Molecular function: GO:0017137 [Rab GTPase binding] evidence: IDA GeneID:9910 -> Biological process: GO:0032851 [positive regulation of Rab GTPase activity] evidence: IDA GeneID:9910 -> Biological process: GO:0032880 [regulation of protein localization] evidence: IDA GeneID:9910 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:9910 -> Cellular component: GO:0005769 [early endosome] evidence: IDA GeneID:9910 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA
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