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Previous release (v1)
2024-11-23 07:19:01, GGRNA.v2 : RefSeq release 226 (Sep, 2024)
LOCUS NM_001414457 5376 bp mRNA linear PRI 10-APR-2024
DEFINITION Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript
variant 4, mRNA.
ACCESSION NM_001414457 XM_005269051
VERSION NM_001414457.1
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 5376)
AUTHORS Fan,H., Zhou,D., Zhang,X., Jiang,M., Kong,X., Xue,T., Gao,L.,
Lu,D., Tao,C. and Wang,L.
TITLE hsa_circRNA_BECN1 acts as a ceRNA to promote polycystic ovary
syndrome progression by sponging the miR-619-5p/Rab5b axis
JOURNAL Mol Hum Reprod 29 (11) (2023)
PUBMED 37882757
REMARK GeneRIF: hsa_circRNA_BECN1 acts as a ceRNA to promote polycystic
ovary syndrome progression by sponging the miR-619-5p/Rab5b axis.
REFERENCE 2 (bases 1 to 5376)
AUTHORS Alan Harris,R., Archer,K.J., Goodarzi,M.O., York,T.P., Rogers,J.,
Dunaif,A., McAllister,J.M. and Strauss,J.F. 3rd.
TITLE Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are
associated with polycystic ovary syndrome
JOURNAL Gene 852, 147062 (2023)
PUBMED 36423778
REMARK GeneRIF: Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and
RAB5B are associated with polycystic ovary syndrome.
REFERENCE 3 (bases 1 to 5376)
AUTHORS Huang,H., Pan,J., Spielberg,D.R., Hanchard,N.A., Scott,D.A.,
Burrage,L.C., Dai,H., Murdock,D., Rosenfeld,J.A., Mohammad,A.,
Huang,T., Lindsey,A.G., Kim,H., Chen,J., Ramu,A., Morrison,S.A.,
Dawson,Z.D., Hu,A.Z., Tycksen,E., Silverman,G.A., Baldridge,D.,
Wambach,J.A., Pak,S.C., Brody,S.L. and Schedl,T.
CONSRTM Undiagnosed Diseases Network
TITLE A dominant negative variant of RAB5B disrupts maturation of
surfactant protein B and surfactant protein C
JOURNAL Proc Natl Acad Sci U S A 119 (6) (2022)
PUBMED 35121658
REMARK GeneRIF: A dominant negative variant of RAB5B disrupts maturation
of surfactant protein B and surfactant protein C.
REFERENCE 4 (bases 1 to 5376)
AUTHORS Christensen,J.R., Kendrick,A.A., Truong,J.B., Aguilar-Maldonado,A.,
Adani,V., Dzieciatkowska,M. and Reck-Peterson,S.L.
TITLE Cytoplasmic dynein-1 cargo diversity is mediated by the
combinatorial assembly of FTS-Hook-FHIP complexes
JOURNAL Elife 10, e74538 (2021)
PUBMED 34882091
REMARK Publication Status: Online-Only
REFERENCE 5 (bases 1 to 5376)
AUTHORS Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
TITLE Interactome Mapping Provides a Network of Neurodegenerative Disease
Proteins and Uncovers Widespread Protein Aggregation in Affected
Brains
JOURNAL Cell Rep 32 (7), 108050 (2020)
PUBMED 32814053
REFERENCE 6 (bases 1 to 5376)
AUTHORS Callaghan,J., Nixon,S., Bucci,C., Toh,B.H. and Stenmark,H.
TITLE Direct interaction of EEA1 with Rab5b
JOURNAL Eur J Biochem 265 (1), 361-366 (1999)
PUBMED 10491193
REFERENCE 7 (bases 1 to 5376)
AUTHORS Chiariello,M., Bruni,C.B. and Bucci,C.
TITLE The small GTPases Rab5a, Rab5b and Rab5c are differentially
phosphorylated in vitro
JOURNAL FEBS Lett 453 (1-2), 20-24 (1999)
PUBMED 10403367
REFERENCE 8 (bases 1 to 5376)
AUTHORS Bao,S., Zhu,J. and Garvey,W.T.
TITLE Cloning of Rab GTPases expressed in human skeletal muscle: studies
in insulin-resistant subjects
JOURNAL Horm Metab Res 30 (11), 656-662 (1998)
PUBMED 9918381
REFERENCE 9 (bases 1 to 5376)
AUTHORS Bucci,C., Lutcke,A., Steele-Mortimer,O., Olkkonen,V.M., Dupree,P.,
Chiariello,M., Bruni,C.B., Simons,K. and Zerial,M.
TITLE Co-operative regulation of endocytosis by three Rab5 isoforms
JOURNAL FEBS Lett 366 (1), 65-71 (1995)
PUBMED 7789520
REFERENCE 10 (bases 1 to 5376)
AUTHORS Wilson,D.B. and Wilson,M.P.
TITLE Identification and subcellular localization of human rab5b, a new
member of the ras-related superfamily of GTPases
JOURNAL J Clin Invest 89 (3), 996-1005 (1992)
PUBMED 1541686
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AC034102.32.
On Nov 25, 2022 this sequence version replaced XM_005269051.4.
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 :: SRR11853563.7588.1,
SRR11853567.7216.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1968540, SAMEA1968968
[ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-62 AC034102.32 187160-187221 c
63-165 AC034102.32 181825-181927 c
166-420 AC034102.32 174176-174430 c
421-572 AC034102.32 171201-171352 c
573-695 AC034102.32 170495-170617 c
696-789 AC034102.32 169846-169939 c
790-5376 AC034102.32 164616-169202 c
FEATURES Location/Qualifiers
source 1..5376
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q13.2"
gene 1..5376
/gene="RAB5B"
/note="RAB5B, member RAS oncogene family"
/db_xref="GeneID:5869"
/db_xref="HGNC:HGNC:9784"
/db_xref="MIM:179514"
exon 1..62
/gene="RAB5B"
/inference="alignment:Splign:2.1.0"
exon 63..165
/gene="RAB5B"
/inference="alignment:Splign:2.1.0"
exon 166..420
/gene="RAB5B"
/inference="alignment:Splign:2.1.0"
CDS 258..905
/gene="RAB5B"
/EC_number="3.6.5.2"
/note="isoform 1 is encoded by transcript variant 4;
ras-related protein Rab-5B"
/codon_start=1
/product="ras-related protein Rab-5B isoform 1"
/protein_id="NP_001401386.1"
/db_xref="GeneID:5869"
/db_xref="HGNC:HGNC:9784"
/db_xref="MIM:179514"
/translation="
MTSRSTARPNGQPQASKICQFKLVLLGESAVGKSSLVLRFVKGQFHEYQESTIGAAFLTQSVCLDDTTVKFEIWDTAGQERYHSLAPMYYRGAQAAIVVYDITNQETFARAKTWVKELQRQASPSIVIALAGNKADLANKRMVEYEEAQAYADDNSLLFMETSAKTAMNVNDLFLAIAKKLPKSEPQNLGGAAGRSRGVDLHEQSQQNKSQCCSN"
misc_feature 261..263
/gene="RAB5B"
/note="N-acetylthreonine.
/evidence=ECO:0007744|PubMed:19413330; propagated from
UniProtKB/Swiss-Prot (P61020.1); acetylation site"
misc_feature 315..803
/gene="RAB5B"
/note="Rab-related GTPase family includes Rab5 and Rab22;
regulates early endosome fusion; Region: Rab5_related;
cd01860"
/db_xref="CDD:206653"
misc_feature 315..323
/gene="RAB5B"
/note="Rab subfamily motif 1 (RabSF1); other site"
/db_xref="CDD:206653"
misc_feature 336..359
/gene="RAB5B"
/note="G1 box; other site"
/db_xref="CDD:206653"
misc_feature order(342..362,390..395,408..413,489..491,654..659,
663..665,744..752)
/gene="RAB5B"
/note="GTP/Mg2+ binding site [chemical binding]; other
site"
/db_xref="CDD:206653"
misc_feature order(360..395,405..410)
/gene="RAB5B"
/note="Rab subfamily motif 2 (RabSF2); other site"
/db_xref="CDD:206653"
misc_feature order(390..392,405..431)
/gene="RAB5B"
/note="Switch I region; other site"
/db_xref="CDD:206653"
misc_feature 402..428
/gene="RAB5B"
/note="propagated from UniProtKB/Swiss-Prot (P61020.1);
Region: Effector region. /evidence=ECO:0000255"
misc_feature order(405..407,417..440,459..461,465..467)
/gene="RAB5B"
/note="putative GEF interaction site [polypeptide
binding]; other site"
/db_xref="CDD:206653"
misc_feature 411..413
/gene="RAB5B"
/note="G2 box; other site"
/db_xref="CDD:206653"
misc_feature order(414..419,423..425,477..482,501..503,507..509,
513..521)
/gene="RAB5B"
/note="putative GDI interaction site [polypeptide
binding]; other site"
/db_xref="CDD:206653"
misc_feature 414..428
/gene="RAB5B"
/note="Rab family motif 1 (RabF1); other site"
/db_xref="CDD:206653"
misc_feature order(420..428,432..434,498..500,519..524)
/gene="RAB5B"
/note="effector interaction site [active]"
/db_xref="CDD:206653"
misc_feature 465..479
/gene="RAB5B"
/note="Rab family motif 2 (RabF2); other site"
/db_xref="CDD:206653"
misc_feature 480..491
/gene="RAB5B"
/note="G3 box; other site"
/db_xref="CDD:206653"
misc_feature order(489..491,495..527)
/gene="RAB5B"
/note="Switch II region; other site"
/db_xref="CDD:206653"
misc_feature 498..515
/gene="RAB5B"
/note="Rab family motif 3 (RabF3); other site"
/db_xref="CDD:206653"
misc_feature 507..509
/gene="RAB5B"
/note="Phosphoserine, by LRRK2.
/evidence=ECO:0000269|PubMed:29125462; propagated from
UniProtKB/Swiss-Prot (P61020.1); phosphorylation site"
misc_feature 522..527
/gene="RAB5B"
/note="Rab family motif 4 (RabF4); other site"
/db_xref="CDD:206653"
misc_feature 549..566
/gene="RAB5B"
/note="Rab family motif 5 (RabF5); other site"
/db_xref="CDD:206653"
misc_feature 630..647
/gene="RAB5B"
/note="Rab subfamily motif 3 (RabSF3); other site"
/db_xref="CDD:206653"
misc_feature 654..665
/gene="RAB5B"
/note="G4 box; other site"
/db_xref="CDD:206653"
misc_feature 744..752
/gene="RAB5B"
/note="G5 box; other site"
/db_xref="CDD:206653"
misc_feature 792..800
/gene="RAB5B"
/note="Rab subfamily motif 4 (RabSF4); other site"
/db_xref="CDD:206653"
misc_feature 813..902
/gene="RAB5B"
/note="propagated from UniProtKB/Swiss-Prot (P61020.1);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
exon 421..572
/gene="RAB5B"
/inference="alignment:Splign:2.1.0"
exon 573..695
/gene="RAB5B"
/inference="alignment:Splign:2.1.0"
exon 696..789
/gene="RAB5B"
/inference="alignment:Splign:2.1.0"
exon 790..5376
/gene="RAB5B"
/inference="alignment:Splign:2.1.0"
polyA_site 3385
/gene="RAB5B"
/note="major polyA site"
regulatory 5358..5363
/regulatory_class="polyA_signal_sequence"
/gene="RAB5B"
/note="hexamer: AATAAA"
polyA_site 5376
/gene="RAB5B"
ORIGIN
gagctgcagctgtttgtctgttcgacacaggcttggggccgacgggggagacggagccccaggtaacactggatcaacaaaatgaagagctgagccaagtggtagaactctcatttcaagattttggtgacttgggtttaaacagagttggagagggagatgaaggagtgttgaagcctggaaatcccctccccttccccctcccccctttacagtatccccctccctccaccctttcccattctgataatctggccatgactagcagaagcacagctaggcccaatgggcaaccccaggccagcaaaatttgccagttcaaattggtcctgctgggagaatctgcagtgggaaagtcaagcctggtattacgttttgtcaaagggcagttccatgagtaccaggagagcaccattggagcggccttcctcacccagtccgtttgtctagatgacacaacagtgaagtttgagatctgggacacagctgggcaggagcgatatcacagcttagcccccatgtactacaggggtgcccaagctgcaatcgtggtttacgacattactaatcaggaaacctttgcccgagcaaagacatgggtgaaggaactacagcgacaggccagtcctagcatcgttattgccctggcagggaacaaagctgacctggccaacaaacgtatggtggagtatgaagaggcccaggcatatgcagatgacaacagcttattgttcatggagacttcagccaagacagctatgaacgtgaatgatctcttcctggcaatagctaagaagttgccaaagagtgaaccccagaatctgggaggtgcagcaggccgaagccggggtgtggatctccatgaacagtcccagcagaacaagagccagtgttgtagcaactgagggggtggctagcagcaaacaagtatggagctagcacaagagctaagaaataacctccatccctacccctcagcacacaacccctacggtaacagcacactgagccctggctcccaagggctgcctcctgacagctccgtcatggcactttttaacgcttcagcaacaaacaccaggcagctgttgccactggcctcctaccccctactctggggcttgggggtcaactccccccaggacttaccttccaaaacaaactttcttcactttgtattataggtacaagacagcgacttacgtatcttttctcctcctccctagtgttcctccccattttttcagaaaacacttctgactcctgtcccttccccttctgcttttggtcagtccctgttcttgagcctcttttctcctctccccaggatgcagaaagtggtgaacccaggaactgaggaaggaggtttccagttcatttacattaagggccctgggggagaataaagctcagagcaggagggagtaaggaaacatttcctttttgtttttatttggttggagtttctcatatttgaaaacattgcggtatccatgatttggccttgtggagggtgttcctaggtagaggtgagaatggggaggcaagatctcaggcaccaggcaggaggtgccttgtaagctaactgggcggaggtggaggtgcagtgtcaactgtggctctgtaactcttcaaaggcccagtttcccctcacgcagcctcttaggtagcgtttcccctaatcgtgggggttggaccccagagtcttccaaagaattttcactggttgcctgcatctttggctctgctgtgatctgattggaggagggacagtttctggtacccatcctctgatttatacatatgcattttttcccctctggcctttagatggcctcagccccagccaccatatacccctgcagtttgcactttaattgatggtagttcagttggggtacttgttttatggaagttttgattgatttacttgccctcccaccttctttttaattcaatgaaatctgaggttaatgcgaggttcgaggagaggttatagataaaactaccagtggcagctactcaagtcctatctccactgttagcttcctccaactctaattattaacctatattcttgccaagctaactattgactataggtttgcctttcctggagaattaattgagcaattgaggagtgtctcaggatagcacaggccaaggtaggggagtaaaaaggaggtcaggcaaaagggaggagttttctgtcctttcccaggtttcacactcaatttgatatccattaccatgtcttttctacttccttgtaaataggtatgatctttattcccactgtacagtctgttctatcctctgcctcccatcaggccctgtttctttgttcctttgttaatatcttgaatttagtccctccatccttaatccccccatccctccccatcatgcaaccagtggtttaatccatgtaccaataggggctagtaccacagaggcctcctgtggtgccctcgtatcataccacctgttcctgtggagagggaatgaccggcactgaaggtaccttacaactggctcatattatcagaggaccttggtcctttctaaatctctagtctctcttcatatccttcatcaggtgttttaagatgtctctgagaagccatcaaggcaaaagagaactttaagttccttgttccagcccggagttttgggaaagaaagaaaggaaaggtcacagtgacctaggattggaaccttcctgcccttttggcttgcagactgccttctatcccagaacagctgagaaatctatgaagctgagattctgaaggacccagcttaggttcttccacttaggcctcaattcccttccttttccaggggcagccttagttcccatggccctgaaacacacacatttcccccttcctttcccagaagccactggccccccatagcacccagtgcatcctttttacaagtggaagaactaggatggctttccaaagtcttctagaaatgaagttctttctctgtgcagctttcccccttggagcaggagtgaagatgtttcattatcttgggcctgggaaaccacttccccaggcttctccctccccccacccccataggaacaggatttggccttagcttctgggcctatcggctgccttccctctacttcctaccacctcttctgccttcctttgagctctgttgggcttggggatcttagttttcttttgtttatttcccagctcatttttttcttctggtcagtttttttaagggggggtgttgtggttttttgtttttgttttgcttctgagaaagcatttgcctttcttcctctcccaacataacaatcgtggtaacagaatgcgactgctgatttaccgatgtatttaatgtaagtaaaaaaaggaaaaaaagaaaagggcattggagtgttgcttttttttattttattgttattattattattatttttgctatttgtcaggtactaggaatttggaagaaaggatacccagtaatgttctactgaatcagaaacacacctttccctgcatcttgatacatctttattccctttaatcttttcttaaacatctagtttagaaaatagcccttctattgctatttaatcacccctcttctaaggccactagattgttcatcaaatcaaaccctattatatctttttaggccctcttaacagaatgtatatgtgtagggtatggtctgtggatctttgggcccactgatcagattagagagaggggtgctatttgaagtagtatacaaaaatgtatgtgcatatttctttttttttttttaattgagacggagtctctgtcgctagcctggagtacagtggcacgatcttggctcacagcaatctccgcctcctgagttcaagtgattctcctgcctcagcctcctgagtagctaggattacaggcacgcaccaacacacccagctaatttttgtatttttagtagagacggggtttcaccatgttggtcaggctggtcttgaactcctgacctcgtgatccacccaccttggcctcccaaagtgctgggattacgggcgtgagccactgcgcccggccgtatgtgcatatttctaggatccatttctatatgtttctcaaaggggtccatgacccaaaggttgaaaaacatcactgagttagttttcttgtagcttccacctcaacgggaaaatttcctctggatctgctcttgactcctagtgtacttcaaacccttcagtccaccacagtctaaaggtcgagggaagggaaatgaaataggattatgtgtggttgcagtaggctttaaattccaaagaatctgaaggtggataggaaagaggactggtgccagacaaatctgacattctaggcctgtctctgtcaacttaaccagctgtggccttgatcaagttagttagtgccttccgcctcgtttcttcatctgtaaagtaaaagctgaagattaaggtcaattatgtaaagtatgtgtgtcacacaaaagtagatgacactattaggaaggaggcttttagatagtccctaactgacttctctgtatcttcctttggctgagacttttttttttttaggttgaagctcgctttctctctctctccctctttctccctctctctctctctctcactctctctctctccatatatatatacatatatatatatatatatattttttttttaacaactggtaggataggttgggcattagccttcttcagtgatttgattgtatacagattgaaatcctttccatttccaaacacttaagagccaaagccaacttgccaacttttcactgtcggttcccttaccttatatctcttggtaataccccccacccccgttccctgattcctggtaaaagctctagttggagagccgaaaggaaaggaaatgatctttcaaaattaaaggtgaacaccttcacttaaactgattaaaattgcagctccaccgtccggcctctagagggcagtgtatggatacatttgtccagattgggggactaggtttgataaattttgtcctgcatcaaatgacaaaagggtaataggaaatgtattatatttatgccccttactttgagataagagactacaaccttcatacttcggggtgttaagctgccattgctcttgttaaggggcagtttgttttttaagagatggggtcttgctctgttgtccaggctggagtgcagtgccgcgatcttggctcagtgcaacctcgaactcctgggcttaagcgatcctcccgcctcagcctcccgagtactgggactacaggcgtgtgccaccaaggggcgattattattttttttttctacgcaaaataaaagacggctattca
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
[Full Text]