RB18B_DANRE
ID RB18B_DANRE Reviewed; 205 AA.
AC Q6DHC1;
DT 06-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2004, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Ras-related protein Rab-18-B;
DE Flags: Precursor;
GN Name=rab18b; Synonyms=rab18; ORFNames=zgc:92523;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=21473985; DOI=10.1016/j.ajhg.2011.03.012;
RA Bem D., Yoshimura S., Nunes-Bastos R., Bond F.C., Kurian M.A., Rahman F.,
RA Handley M.T., Hadzhiev Y., Masood I., Straatman-Iwanowska A.A.,
RA Cullinane A.R., McNeill A., Pasha S.S., Kirby G.A., Foster K., Ahmed Z.,
RA Morton J.E., Williams D., Graham J.M., Dobyns W.B., Burglen L.,
RA Ainsworth J.R., Gissen P., Muller F., Maher E.R., Barr F.A.,
RA Aligianis I.A.;
RT "Loss-of-function mutations in RAB18 cause Warburg micro syndrome.";
RL Am. J. Hum. Genet. 88:499-507(2011).
CC -!- FUNCTION: Required for the localization of ZFYVE1 to lipid droplets and
CC for its function in mediating the formation of endoplasmic reticulum-
CC lipid droplets (ER-LD) contacts (By similarity). Plays a role in apical
CC endocytosis/recycling (By similarity). Plays a key role in eye and
CC brain development and neurodegeneration (PubMed:21473985).
CC {ECO:0000250|UniProtKB:Q8MXS1, ECO:0000250|UniProtKB:Q9NP72,
CC ECO:0000269|PubMed:21473985}.
CC -!- SUBCELLULAR LOCATION: Apical cell membrane
CC {ECO:0000250|UniProtKB:P35293}. Lipid droplet
CC {ECO:0000250|UniProtKB:Q9NP72}.
CC -!- DISRUPTION PHENOTYPE: The most common abnormalities observed at 3 days
CC post-fertilization are microphthalmia, microcephaly, pericardial edema,
CC delayed jaw formation, a reduced overall body size, and a general
CC developmental delay. Further characterization revealed that the rab18b
CC morphants have delayed retinal development and abnormal retinal
CC lamination, residual nucleated lens fiber cells, widely open choroid
CC fissure, and microphthalmia at day 3. {ECO:0000269|PubMed:21473985}.
CC -!- SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
CC {ECO:0000305}.
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DR EMBL; BC076054; AAH76054.1; -; mRNA.
DR RefSeq; NP_001003449.1; NM_001003449.1.
DR AlphaFoldDB; Q6DHC1; -.
DR SMR; Q6DHC1; -.
DR STRING; 7955.ENSDARP00000042736; -.
DR PaxDb; Q6DHC1; -.
DR Ensembl; ENSDART00000158335; ENSDARP00000133937; ENSDARG00000098344.
DR GeneID; 445055; -.
DR KEGG; dre:445055; -.
DR CTD; 445055; -.
DR ZFIN; ZDB-GENE-040801-185; rab18b.
DR eggNOG; KOG0080; Eukaryota.
DR GeneTree; ENSGT00940000157325; -.
DR HOGENOM; CLU_041217_10_7_1; -.
DR InParanoid; Q6DHC1; -.
DR OMA; DENSMPL; -.
DR OrthoDB; 1247169at2759; -.
DR PhylomeDB; Q6DHC1; -.
DR TreeFam; TF313448; -.
DR Reactome; R-DRE-6798695; Neutrophil degranulation.
DR Reactome; R-DRE-6811436; COPI-independent Golgi-to-ER retrograde traffic.
DR Reactome; R-DRE-8873719; RAB geranylgeranylation.
DR Reactome; R-DRE-8876198; RAB GEFs exchange GTP for GDP on RABs.
DR PRO; PR:Q6DHC1; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 2.
DR GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0005811; C:lipid droplet; ISS:UniProtKB.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0003924; F:GTPase activity; IBA:GO_Central.
DR GO; GO:0007420; P:brain development; IMP:UniProtKB.
DR GO; GO:0043009; P:chordate embryonic development; IMP:ZFIN.
DR GO; GO:0001654; P:eye development; IMP:UniProtKB.
DR GO; GO:0006886; P:intracellular protein transport; IBA:GO_Central.
DR GO; GO:0034389; P:lipid droplet organization; IBA:GO_Central.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR025662; Sigma_54_int_dom_ATP-bd_1.
DR InterPro; IPR005225; Small_GTP-bd_dom.
DR InterPro; IPR001806; Small_GTPase.
DR Pfam; PF00071; Ras; 1.
DR SMART; SM00174; RHO; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR TIGRFAMs; TIGR00231; small_GTP; 1.
DR PROSITE; PS51419; RAB; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Developmental protein; GTP-binding; Lipid droplet;
KW Lipoprotein; Membrane; Methylation; Nucleotide-binding; Palmitate;
KW Prenylation; Protein transport; Reference proteome; Transport.
FT CHAIN 1..202
FT /note="Ras-related protein Rab-18-B"
FT /id="PRO_0000121198"
FT PROPEP 203..205
FT /note="Removed in mature form"
FT /evidence="ECO:0000255"
FT /id="PRO_0000370820"
FT MOTIF 37..45
FT /note="Effector region"
FT /evidence="ECO:0000250"
FT BINDING 15..22
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 63..67
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 122..125
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT MOD_RES 202
FT /note="Cysteine methyl ester"
FT /evidence="ECO:0000255"
FT LIPID 198
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000255"
FT LIPID 202
FT /note="S-geranylgeranyl cysteine"
FT /evidence="ECO:0000250"
SQ SEQUENCE 205 AA; 23013 MW; 4854D8252A2E2B21 CRC64;
MDDDVLTTLK ILIIGESGVG KSSLLLRFTD DTFDPELAAT IGVDFKVKTI AIDGNRAKLA
IWDTAGQERF RTLTPSYYRG AQGVILVYDV TKRDTFTKLE NWLNELETYC TRNDLVKMLV
GNKIDKDNRE VDRNEGLKFA RKHSMLFIEA SAKTRDGVQC AFEELVEKIL QTPGLWESSI
QNHGVQLSDN EPQRQGACGG YCSLV
