GORAB_MOUSE
ID GORAB_MOUSE Reviewed; 368 AA.
AC Q8BRM2; Q8CAA8;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=RAB6-interacting golgin;
DE AltName: Full=N-terminal kinase-like-binding protein 1;
DE Short=NTKL-BP1;
DE Short=NTKL-binding protein 1;
DE Short=mNTKL-BP1;
DE AltName: Full=SCY1-like 1-binding protein 1;
DE Short=SCYL1-BP1;
DE Short=SCYL1-binding protein 1;
GN Name=Gorab; Synonyms=Ntklbp1, Scyl1bp1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH SCYL1, SUBCELLULAR
RP LOCATION, AND TISSUE SPECIFICITY.
RC TISSUE=Fetus;
RX PubMed=12783284; DOI=10.1007/s10038-003-0031-5;
RA Di Y., Li J., Fang J., Xu Z., He X., Zhang F., Ling J., Li X., Xu D.,
RA Li L., Li Y.Y., Huo K.;
RT "Cloning and characterization of a novel gene which encodes a protein
RT interacting with the mitosis-associated kinase-like protein NTKL.";
RL J. Hum. Genet. 48:315-321(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J; TISSUE=Brain cortex, Hypothalamus, Kidney, and Lung;
RX PubMed=12466851; DOI=10.1038/nature01266;
RA Okazaki Y., Furuno M., Kasukawa T., Adachi J., Bono H., Kondo S.,
RA Nikaido I., Osato N., Saito R., Suzuki H., Yamanaka I., Kiyosawa H.,
RA Yagi K., Tomaru Y., Hasegawa Y., Nogami A., Schonbach C., Gojobori T.,
RA Baldarelli R., Hill D.P., Bult C., Hume D.A., Quackenbush J., Schriml L.M.,
RA Kanapin A., Matsuda H., Batalov S., Beisel K.W., Blake J.A., Bradt D.,
RA Brusic V., Chothia C., Corbani L.E., Cousins S., Dalla E., Dragani T.A.,
RA Fletcher C.F., Forrest A., Frazer K.S., Gaasterland T., Gariboldi M.,
RA Gissi C., Godzik A., Gough J., Grimmond S., Gustincich S., Hirokawa N.,
RA Jackson I.J., Jarvis E.D., Kanai A., Kawaji H., Kawasawa Y.,
RA Kedzierski R.M., King B.L., Konagaya A., Kurochkin I.V., Lee Y.,
RA Lenhard B., Lyons P.A., Maglott D.R., Maltais L., Marchionni L.,
RA McKenzie L., Miki H., Nagashima T., Numata K., Okido T., Pavan W.J.,
RA Pertea G., Pesole G., Petrovsky N., Pillai R., Pontius J.U., Qi D.,
RA Ramachandran S., Ravasi T., Reed J.C., Reed D.J., Reid J., Ring B.Z.,
RA Ringwald M., Sandelin A., Schneider C., Semple C.A., Setou M., Shimada K.,
RA Sultana R., Takenaka Y., Taylor M.S., Teasdale R.D., Tomita M., Verardo R.,
RA Wagner L., Wahlestedt C., Wang Y., Watanabe Y., Wells C., Wilming L.G.,
RA Wynshaw-Boris A., Yanagisawa M., Yang I., Yang L., Yuan Z., Zavolan M.,
RA Zhu Y., Zimmer A., Carninci P., Hayatsu N., Hirozane-Kishikawa T.,
RA Konno H., Nakamura M., Sakazume N., Sato K., Shiraki T., Waki K., Kawai J.,
RA Aizawa K., Arakawa T., Fukuda S., Hara A., Hashizume W., Imotani K.,
RA Ishii Y., Itoh M., Kagawa I., Miyazaki A., Sakai K., Sasaki D., Shibata K.,
RA Shinagawa A., Yasunishi A., Yoshino M., Waterston R., Lander E.S.,
RA Rogers J., Birney E., Hayashizaki Y.;
RT "Analysis of the mouse transcriptome based on functional annotation of
RT 60,770 full-length cDNAs.";
RL Nature 420:563-573(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP SUBCELLULAR LOCATION, INTERACTION WITH RAB6A, AND TISSUE SPECIFICITY.
RX PubMed=18997784; DOI=10.1038/ng.252;
RA Hennies H.C., Kornak U., Zhang H., Egerer J., Zhang X., Seifert W.,
RA Kuhnisch J., Budde B., Naetebus M., Brancati F., Wilcox W.R., Mueller D.,
RA Kaplan P.B., Rajab A., Zampino G., Fodale V., Dallapiccola B., Newman W.,
RA Metcalfe K., Clayton-Smith J., Tassabehji M., Steinmann B., Barr F.A.,
RA Nuernberg P., Wieacker P., Mundlos S.;
RT "Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6
RT interacting golgin.";
RL Nat. Genet. 40:1410-1412(2008).
CC -!- SUBUNIT: Interacts with RCHY1 (By similarity). Interacts with SCYL1 and
CC RAB6A/RAB6. {ECO:0000250, ECO:0000269|PubMed:12783284,
CC ECO:0000269|PubMed:18997784}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12783284}. Golgi
CC apparatus {ECO:0000269|PubMed:18997784}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8BRM2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8BRM2-2; Sequence=VSP_020979;
CC -!- TISSUE SPECIFICITY: Expressed in small intestine, kidney, skeletal
CC muscle, lung, spleen, brain and heart. High expression is observed in
CC osteoblasts and skin; also expressed in osteoclasts albeit at lower
CC levels. {ECO:0000269|PubMed:12783284, ECO:0000269|PubMed:18997784}.
CC -!- SIMILARITY: Belongs to the GORAB family. {ECO:0000305}.
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DR EMBL; AK039170; BAC30263.1; -; mRNA.
DR EMBL; AK043953; BAC31712.1; -; mRNA.
DR EMBL; AK165909; BAE38454.1; -; mRNA.
DR EMBL; AK169151; BAE40930.1; -; mRNA.
DR EMBL; BC119132; AAI19133.1; -; mRNA.
DR EMBL; BC119134; AAI19135.1; -; mRNA.
DR CCDS; CCDS15429.1; -. [Q8BRM2-1]
DR RefSeq; NP_001300667.1; NM_001313738.1. [Q8BRM2-2]
DR RefSeq; NP_849214.2; NM_178883.6. [Q8BRM2-1]
DR AlphaFoldDB; Q8BRM2; -.
DR SMR; Q8BRM2; -.
DR BioGRID; 221044; 1.
DR STRING; 10090.ENSMUSP00000036253; -.
DR iPTMnet; Q8BRM2; -.
DR PhosphoSitePlus; Q8BRM2; -.
DR EPD; Q8BRM2; -.
DR jPOST; Q8BRM2; -.
DR MaxQB; Q8BRM2; -.
DR PaxDb; Q8BRM2; -.
DR PeptideAtlas; Q8BRM2; -.
DR PRIDE; Q8BRM2; -.
DR ProteomicsDB; 271420; -. [Q8BRM2-1]
DR ProteomicsDB; 271421; -. [Q8BRM2-2]
DR Antibodypedia; 34371; 379 antibodies from 28 providers.
DR Ensembl; ENSMUST00000045138; ENSMUSP00000036253; ENSMUSG00000040124. [Q8BRM2-1]
DR GeneID; 98376; -.
DR KEGG; mmu:98376; -.
DR UCSC; uc007dhl.1; mouse. [Q8BRM2-1]
DR CTD; 92344; -.
DR MGI; MGI:2138271; Gorab.
DR VEuPathDB; HostDB:ENSMUSG00000040124; -.
DR eggNOG; ENOG502R60M; Eukaryota.
DR GeneTree; ENSGT00390000014886; -.
DR HOGENOM; CLU_064636_0_0_1; -.
DR InParanoid; Q8BRM2; -.
DR OMA; PMAQGWA; -.
DR OrthoDB; 1277705at2759; -.
DR PhylomeDB; Q8BRM2; -.
DR TreeFam; TF324839; -.
DR BioGRID-ORCS; 98376; 1 hit in 71 CRISPR screens.
DR PRO; PR:Q8BRM2; -.
DR Proteomes; UP000000589; Chromosome 1.
DR RNAct; Q8BRM2; protein.
DR Bgee; ENSMUSG00000040124; Expressed in manus and 220 other tissues.
DR ExpressionAtlas; Q8BRM2; baseline and differential.
DR Genevisible; Q8BRM2; MM.
DR GO; GO:0005737; C:cytoplasm; IDA:HGNC-UCL.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0005794; C:Golgi apparatus; ISO:MGI.
DR GO; GO:0005730; C:nucleolus; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0031069; P:hair follicle morphogenesis; IMP:MGI.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:MGI.
DR GO; GO:1901622; P:positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning; IMP:MGI.
DR InterPro; IPR007033; GORAB.
DR PANTHER; PTHR21470; PTHR21470; 1.
DR Pfam; PF04949; Transcrip_act; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Golgi apparatus;
KW Reference proteome.
FT CHAIN 1..368
FT /note="RAB6-interacting golgin"
FT /id="PRO_0000252445"
FT REGION 1..43
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 55..133
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 188..368
FT /note="Necessary for interaction with RCHY1"
FT /evidence="ECO:0000250"
FT REGION 302..368
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 145..310
FT /evidence="ECO:0000255"
FT COMPBIAS 8..40
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 113..133
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 320..334
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..155
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12466851"
FT /id="VSP_020979"
SQ SEQUENCE 368 AA; 41487 MW; 5204B23BE1E0C196 CRC64;
MAQDWAGFSE EELRRLKQNK DPFEPQRRIP VKKTRQQLQR EKALLEQSQK LGLQDGSASL
LPEQLLSAPK QRANSQKPRS PSPVAPSPLT PTSSSGDGKL PGVGSQPQEP GLENSHHGHK
SAEVRAPKPD CKVEKKKMEL QEKSRWEVLQ QEQRLMEEKN KRKKALLAQA IAERSKKTQA
ETIKLKRIQK ELQALDDMVS ADIGILRNRI DQASLEYSYA RKRFDRAEAE YITAKLDLQR
KTETKEQLTE HLCTIIQQNE LRKAKKLEEL MQQLDVQADE EALQLEVEVE QLLREQEAEA
AKQMASVERL CPPDGESVSS ELAEENNEPQ KQAPSPETDK PGKCCSSSPH RLDCPDPGAK
NFSAAVAT
