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2024-04-24 01:09:31, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_030981 1955 bp mRNA linear PRI 05-MAY-2013
DEFINITION Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.
ACCESSION NM_030981 XM_001134089
VERSION NM_030981.2 GI:116014337
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 1955)
AUTHORS Mochizuki,Y., Ohashi,R., Kawamura,T., Iwanari,H., Kodama,T.,
Naito,M. and Hamakubo,T.
TITLE Phosphatidylinositol 3-phosphatase myotubularin-related protein 6
(MTMR6) is regulated by small GTPase Rab1B in the early secretory
and autophagic pathways
JOURNAL J. Biol. Chem. 288 (2), 1009-1021 (2013)
PUBMED 23188820
REMARK GeneRIF: results indicate that the cellular localization of MTMR6
is regulated by Rab1B in the early secretory and autophagic
pathways
REFERENCE 2 (bases 1 to 1955)
AUTHORS Gavriljuk,K., Gazdag,E.M., Itzen,A., Kotting,C., Goody,R.S. and
Gerwert,K.
TITLE Catalytic mechanism of a mammalian Rab.RabGAP complex in atomic
detail
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 109 (52), 21348-21353 (2012)
PUBMED 23236136
REMARK GeneRIF: The detailed molecular reaction mechanism of a complex
between human Rab and RabGAP at the highest possible spatiotemporal
resolution and in atomic detail, is described.
REFERENCE 3 (bases 1 to 1955)
CONSRTM Psychiatric GWAS Consortium Bipolar Disorder Working Group
TITLE Large-scale genome-wide association analysis of bipolar disorder
identifies a new susceptibility locus near ODZ4
JOURNAL Nat. Genet. 43 (10), 977-983 (2011)
PUBMED 21926972
REMARK Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
[added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
[corrected to Meng, Fan]]
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 1955)
AUTHORS Zenner,H.L., Yoshimura,S., Barr,F.A. and Crump,C.M.
TITLE Analysis of Rab GTPase-activating proteins indicates that Rab1a/b
and Rab43 are important for herpes simplex virus 1 secondary
envelopment
JOURNAL J. Virol. 85 (16), 8012-8021 (2011)
PUBMED 21680502
REMARK GeneRIF: Rab1a/b and Rab43, are important for herpes simplex virus
1 virion assembly
REFERENCE 5 (bases 1 to 1955)
AUTHORS Slavin,I., Garcia,I.A., Monetta,P., Martinez,H., Romero,N. and
Alvarez,C.
TITLE Role of Rab1b in COPII dynamics and function
JOURNAL Eur. J. Cell Biol. 90 (4), 301-311 (2011)
PUBMED 21093099
REMARK GeneRIF: Rab1b is a key regulatory component of COPII dynamics and
function.
REFERENCE 6 (bases 1 to 1955)
AUTHORS Overmeyer,J.H., Wilson,A.L., Erdman,R.A. and Maltese,W.A.
TITLE The putative 'switch 2' domain of the Ras-related GTPase, Rab1B,
plays an essential role in the interaction with Rab escort protein
JOURNAL Mol. Biol. Cell 9 (1), 223-235 (1998)
PUBMED 9437002
REFERENCE 7 (bases 1 to 1955)
AUTHORS Chen,D., Guo,J. and Gahl,W.A.
TITLE RAB GTPases expressed in human melanoma cells
JOURNAL Biochim. Biophys. Acta 1355 (1), 1-6 (1997)
PUBMED 9030196
REFERENCE 8 (bases 1 to 1955)
AUTHORS Wilson,A.L., Sheridan,K.M., Erdman,R.A. and Maltese,W.A.
TITLE Prenylation of a Rab1B mutant with altered GTPase activity is
impaired in cell-free systems but not in intact mammalian cells
JOURNAL Biochem. J. 318 (PT 3), 1007-1014 (1996)
PUBMED 8836150
REFERENCE 9 (bases 1 to 1955)
AUTHORS Soldati,T., Rancano,C., Geissler,H. and Pfeffer,S.R.
TITLE Rab7 and Rab9 are recruited onto late endosomes by biochemically
distinguishable processes
JOURNAL J. Biol. Chem. 270 (43), 25541-25548 (1995)
PUBMED 7592724
REFERENCE 10 (bases 1 to 1955)
AUTHORS Plutner,H., Cox,A.D., Pind,S., Khosravi-Far,R., Bourne,J.R.,
Schwaninger,R., Der,C.J. and Balch,W.E.
TITLE Rab1b regulates vesicular transport between the endoplasmic
reticulum and successive Golgi compartments
JOURNAL J. Cell Biol. 115 (1), 31-43 (1991)
PUBMED 1918138
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BG717501.1, AL136635.1 and AP001107.5.
On Oct 11, 2006 this sequence version replaced gi:13569961.
Summary: Members of the RAB protein family, such as RAB1B, are low
molecular mass monomeric GTPases localized on the cytoplasmic
surfaces of distinct membrane-bound organelles. RAB1B functions in
the early secretory pathway and is essential for vesicle transport
between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997
[PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied
by OMIM, Jan 2009].
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##
Transcript exon combination :: AL136635.1, AJ245875.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-49 BG717501.1 6-54
50-762 AL136635.1 2-714
763-1955 AP001107.5 16556-17748
FEATURES Location/Qualifiers
source 1..1955
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q12"
gene 1..1955
/gene="RAB1B"
/note="RAB1B, member RAS oncogene family"
/db_xref="GeneID:81876"
/db_xref="HGNC:18370"
/db_xref="HPRD:11469"
/db_xref="MIM:612565"
exon 1..109
/gene="RAB1B"
/inference="alignment:Splign:1.39.8"
variation 23
/gene="RAB1B"
/replace="a"
/replace="c"
/db_xref="dbSNP:112419770"
variation 86
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:199656742"
CDS 96..701
/gene="RAB1B"
/note="small GTP-binding protein"
/codon_start=1
/product="ras-related protein Rab-1B"
/protein_id="NP_112243.1"
/db_xref="GI:13569962"
/db_xref="CCDS:CCDS31613.1"
/db_xref="GeneID:81876"
/db_xref="HGNC:18370"
/db_xref="HPRD:11469"
/db_xref="MIM:612565"
/translation="
MNPEYDYLFKLLLIGDSGVGKSCLLLRFADDTYTESYISTIGVDFKIRTIELDGKTIKLQIWDTAGQERFRTITSSYYRGAHGIIVVYDVTDQESYANVKQWLQEIDRYASENVNKLLVGNKSDLTTKKVVDNTTAKEFADSLGIPFLETSAKNATNVEQAFMTMAAEIKKRMGPGAASGGERPNLKIDSTPVKPAGGGCC
"
misc_feature 96..98
/gene="RAB1B"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylmethionine; propagated from
UniProtKB/Swiss-Prot (Q9H0U4.1); acetylation site"
misc_feature 108..698
/gene="RAB1B"
/note="Rab family protein; Provisional; Region: PLN03108"
/db_xref="CDD:178655"
misc_feature 114..611
/gene="RAB1B"
/note="Rab GTPase family 1 includes the yeast homolog
Ypt1; Region: Rab1_Ypt1; cd01869"
/db_xref="CDD:206661"
misc_feature 114..125
/gene="RAB1B"
/note="Rab subfamily motif 1 (RabSF1); other site"
/db_xref="CDD:206661"
misc_feature 138..161
/gene="RAB1B"
/note="G1 box; other site"
/db_xref="CDD:206661"
misc_feature order(141..143,147..164,192..194,456..461,465..467,
546..554)
/gene="RAB1B"
/note="GTP/Mg2+ binding site [chemical binding]; other
site"
/db_xref="CDD:206661"
misc_feature order(162..197,204..212)
/gene="RAB1B"
/note="Rab subfamily motif 2 (RabSF2); other site"
/db_xref="CDD:206661"
misc_feature order(192..194,207..233)
/gene="RAB1B"
/note="Switch I region; other site"
/db_xref="CDD:206661"
misc_feature 204..230
/gene="RAB1B"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H0U4.1);
Region: Effector region (By similarity)"
misc_feature order(207..209,219..242,261..263,267..269)
/gene="RAB1B"
/note="putative GEF interaction site [polypeptide
binding]; other site"
/db_xref="CDD:206661"
misc_feature 213..215
/gene="RAB1B"
/note="G2 box; other site"
/db_xref="CDD:206661"
misc_feature order(216..218,222..230,273..275,279..281,300..305,
312..314,324..326,330..341,600..602)
/gene="RAB1B"
/note="putative effector interaction site; other site"
/db_xref="CDD:206661"
misc_feature order(216..221,225..227,279..284,303..305,309..311,
315..323,330..332)
/gene="RAB1B"
/note="GDI interaction site; other site"
/db_xref="CDD:206661"
misc_feature 216..230
/gene="RAB1B"
/note="Rab family motif 1 (RabF1); other site"
/db_xref="CDD:206661"
misc_feature 267..281
/gene="RAB1B"
/note="Rab family motif 2 (RabF2); other site"
/db_xref="CDD:206661"
misc_feature 282..293
/gene="RAB1B"
/note="G3 box; other site"
/db_xref="CDD:206661"
misc_feature 285..344
/gene="RAB1B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H0U4.1);
Region: Switch 2 region, required for interaction with
REP1/CHM"
misc_feature order(291..293,297..329)
/gene="RAB1B"
/note="Switch II region; other site"
/db_xref="CDD:206661"
misc_feature 300..317
/gene="RAB1B"
/note="Rab family motif 3 (RabF3); other site"
/db_xref="CDD:206661"
misc_feature 321..323
/gene="RAB1B"
/experiment="experimental evidence, no additional details
recorded"
/note="O-(2-cholinephosphoryl)serine, by Legionella AnkX;
propagated from UniProtKB/Swiss-Prot (Q9H0U4.1);
phosphorylation site"
misc_feature 324..338
/gene="RAB1B"
/note="Rab family motif 4 (RabF4); other site"
/db_xref="CDD:206661"
misc_feature 324..326
/gene="RAB1B"
/experiment="experimental evidence, no additional details
recorded"
/note="O-AMP-tyrosine, by Legionella DrrA; propagated from
UniProtKB/Swiss-Prot (Q9H0U4.1); modified site"
misc_feature 351..368
/gene="RAB1B"
/note="Rab family motif 5 (RabF5); other site"
/db_xref="CDD:206661"
misc_feature 429..449
/gene="RAB1B"
/note="Rab subfamily motif 3 (RabSF3); other site"
/db_xref="CDD:206661"
misc_feature 456..467
/gene="RAB1B"
/note="G4 box; other site"
/db_xref="CDD:206661"
misc_feature 546..554
/gene="RAB1B"
/note="G5 box; other site"
/db_xref="CDD:206661"
misc_feature 594..611
/gene="RAB1B"
/note="Rab subfamily motif 4 (RabSF4); other site"
/db_xref="CDD:206661"
exon 110..182
/gene="RAB1B"
/inference="alignment:Splign:1.39.8"
variation 149
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:140622155"
variation 164
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:375361090"
exon 183..278
/gene="RAB1B"
/inference="alignment:Splign:1.39.8"
variation 230
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:369688518"
exon 279..374
/gene="RAB1B"
/inference="alignment:Splign:1.39.8"
variation 329
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:146494531"
variation 354
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:11555385"
exon 375..506
/gene="RAB1B"
/inference="alignment:Splign:1.39.8"
variation 383
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:149085050"
variation 418
/gene="RAB1B"
/replace="g"
/replace="t"
/db_xref="dbSNP:143206894"
variation 434
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:372476957"
variation 439
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:371245994"
variation 464
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:199961685"
variation 488
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:61734075"
exon 507..1955
/gene="RAB1B"
/inference="alignment:Splign:1.39.8"
variation 519
/gene="RAB1B"
/replace="a"
/replace="t"
/db_xref="dbSNP:148276108"
variation 545
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:61730423"
variation 566
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:375241856"
variation 570
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:140356034"
variation 578
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:367843963"
variation 635
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:375965398"
variation 638
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:371996451"
variation 659
/gene="RAB1B"
/replace="c"
/replace="g"
/db_xref="dbSNP:371190814"
variation 660
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:189228025"
variation 669
/gene="RAB1B"
/replace="c"
/replace="g"
/db_xref="dbSNP:202183182"
variation 680
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:200992788"
variation 686
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:368830540"
variation 711
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:181942452"
variation 719
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:376404350"
variation 735..737
/gene="RAB1B"
/replace=""
/replace="aag"
/db_xref="dbSNP:3831389"
variation 737..739
/gene="RAB1B"
/replace=""
/replace="tct"
/db_xref="dbSNP:148632819"
variation 741
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:369483409"
variation 826
/gene="RAB1B"
/replace="a"
/replace="c"
/db_xref="dbSNP:142287299"
variation 837
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:147898756"
variation 858
/gene="RAB1B"
/replace="g"
/replace="t"
/db_xref="dbSNP:3203695"
variation 869..870
/gene="RAB1B"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:3203696"
variation 881
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:185769648"
variation 890
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:2508657"
variation 903
/gene="RAB1B"
/replace="g"
/replace="t"
/db_xref="dbSNP:7350526"
variation 943
/gene="RAB1B"
/replace="c"
/replace="g"
/db_xref="dbSNP:191763879"
variation 978
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:368927222"
variation 996
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:183229926"
variation 1051..1053
/gene="RAB1B"
/replace=""
/replace="ttc"
/db_xref="dbSNP:373550360"
variation 1052
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:186183603"
variation 1092
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:79035573"
variation 1252
/gene="RAB1B"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:113221195"
variation 1414
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:112770037"
variation 1446
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:191429393"
variation 1481
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:1043243"
variation 1510
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:141611198"
variation 1541
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:371962546"
variation 1542
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:11227443"
variation 1549
/gene="RAB1B"
/replace="c"
/replace="g"
/db_xref="dbSNP:11227444"
variation 1598
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:1043248"
STS 1604..1735
/gene="RAB1B"
/standard_name="RH69692"
/db_xref="UniSTS:88413"
variation 1623
/gene="RAB1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:9666374"
variation 1640
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:11227445"
variation 1682
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:11227446"
variation 1749
/gene="RAB1B"
/replace="c"
/replace="g"
/db_xref="dbSNP:17411313"
variation 1757
/gene="RAB1B"
/replace="g"
/replace="t"
/db_xref="dbSNP:3211179"
variation 1757
/gene="RAB1B"
/replace="g"
/replace="t"
/db_xref="dbSNP:17411320"
variation 1766
/gene="RAB1B"
/replace="a"
/replace="t"
/db_xref="dbSNP:3211180"
variation 1766
/gene="RAB1B"
/replace="a"
/replace="t"
/db_xref="dbSNP:17414987"
variation 1768
/gene="RAB1B"
/replace=""
/replace="c"
/db_xref="dbSNP:374788736"
variation 1768
/gene="RAB1B"
/replace="c"
/replace="g"
/db_xref="dbSNP:3211181"
variation 1768
/gene="RAB1B"
/replace="c"
/replace="g"
/db_xref="dbSNP:17414994"
variation 1809
/gene="RAB1B"
/replace="a"
/replace="t"
/db_xref="dbSNP:17842199"
variation 1811
/gene="RAB1B"
/replace=""
/replace="g"
/db_xref="dbSNP:34247845"
variation 1822
/gene="RAB1B"
/replace="c"
/replace="t"
/db_xref="dbSNP:145468882"
variation 1854
/gene="RAB1B"
/replace="c"
/replace="g"
/db_xref="dbSNP:34038114"
variation 1874
/gene="RAB1B"
/replace="a"
/replace="c"
/db_xref="dbSNP:1043303"
variation 1928..1929
/gene="RAB1B"
/replace=""
/replace="g"
/db_xref="dbSNP:35154090"
ORIGIN
gcgggcggggcctctggggcggagcggccaccatcttggaacgggaggcggagcagagtcgactgggagcgaccgagcgggccgccgccgccgccatgaaccccgaatatgactacctgtttaagctgcttttgattggcgactcaggcgtgggcaagtcatgcctgctcctgcggtttgctgatgacacgtacacagagagctacatcagcaccatcggggtggacttcaagatccgaaccatcgagctggatggcaaaactatcaaacttcagatctgggacacagcgggccaggaacggttccggaccatcacttccagctactaccggggggctcatggcatcatcgtggtgtatgacgtcactgaccaggaatcctacgccaacgtgaagcagtggctgcaggagattgaccgctatgccagcgagaacgtcaataagctcctggtgggcaacaagagcgacctcaccaccaagaaggtggtggacaacaccacagccaaggagtttgcagactctctgggcatccccttcttggagacgagcgccaagaatgccaccaatgtcgagcaggcgttcatgaccatggctgctgaaatcaaaaagcggatggggcctggagcagcctctgggggcgagcggcccaatctcaagatcgacagcacccctgtaaagccggctggcggtggctgttgctaggaggggcacatggagtgggacaggagggggcaccttctccagatgatgtccctggagggggcaggaggtacctccctctccctctcctggggcatttgagtctgtggctttggggtgtcctgggctccccatctccttctggcccatctgcctgctgccctgagccccggttctgtcagggtccctaagggaggacactcagggcctgtggccaggcagggcggaggcctgctgtgctgttgcctctaggtgactttccaagatgcccccctacacacctttctttggaacgagggctcttctgtcggtgtccctcccacccccatgtatgctgcactgggttctctccttcttcttcctgctgtcctgcccaagaactgagggtctccccggcctctactgccctggctgcagtcagtgcccagggcgaggaatgtggccaggggatccaggacctgggatccagggccctgggctggacctcaggacaggcatggaggccacaggggcccagcagcccaccctttcctctccccactgcctcctctcccttcctacactcccagctcgagccgtccagctgcggtgggatctgagtatatctagggcgggtgggcgggtagcagtgctgggcctgtgtcttgagcctggagggagtctgctcctgccgccctctgccctgccagagacagacccatgcgctgcctgcccaccgtgcccctttgtccccatgtcaggcggaggcggaaggcccaccgtgccagaggctgggcaccagccttaaccctcactctgctagcacctcctccctttccccaaggtagcacatctggctcactccccactccgtctctggagcccaccagggaaggccctcatcccctgccgctacttctctggggaatgtgggttccatccaggattgggggcctctctgctcacccactctgcacccaggatcctagtcccctgccctctggcacagctgcttcctgcaagaaagcaagtctttggtctccctgagaagccatgtccctcgtgctgtctcttgcctgtcccacctgtgccctgccctccagcttgtatttaagtccctgggctgcccccttggggtgccccccgctcccaggttcccctctggtgtcatgtcaggcattttgcaaggaaaagccacttggggaaagatggaaaaggacaaaaaaaattaataaatttccattggccctcgggtgagctgagggtttttgcaaggaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:81876 -> Molecular function: GO:0005525 [GTP binding] evidence: IDA
GeneID:81876 -> Biological process: GO:0007264 [small GTPase mediated signal transduction] evidence: IEA
GeneID:81876 -> Biological process: GO:0015031 [protein transport] evidence: IEA
GeneID:81876 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
GeneID:81876 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA
GeneID:81876 -> Cellular component: GO:0016020 [membrane] evidence: IEA
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DBCLS
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