LOCUS       NM_152281               2540 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens golgin, RAB6 interacting (GORAB), transcript variant
            1, mRNA.
ACCESSION   NM_152281
VERSION     NM_152281.3
KEYWORDS    RefSeq; MANE Select.
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 2540)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2540)
  AUTHORS   Witkos,T.M., Chan,W.L., Joensuu,M., Rhiel,M., Pallister,E.,
            Thomas-Oates,J., Mould,A.P., Mironov,A.A., Biot,C., Guerardel,Y.,
            Morelle,W., Ungar,D., Wieland,F.T., Jokitalo,E., Tassabehji,M.,
            Kornak,U. and Lowe,M.
  TITLE     GORAB scaffolds COPI at the trans-Golgi for efficient enzyme
            recycling and correct protein glycosylation
  JOURNAL   Nat Commun 10 (1), 127 (2019)
   PUBMED   30631079
  REMARK    GeneRIF: Loss of RAB6-interacting golgin (GORAB) causes impairment
            of coat protein complex I (COPI)-mediated retrieval of trans-Golgi
            enzymes, resulting in a deficit in glycosylation of secretory cargo
            proteins.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2540)
  AUTHORS   Takeda,R., Takagi,M., Shinohara,H., Futagawa,H., Narumi,S.,
            Hasegawa,T., Nishimura,G. and Yoshihashi,H.
  TITLE     Novel compound heterozygous mutations identified by whole exome
            sequencing in a Japanese patient with geroderma osteodysplastica
  JOURNAL   Eur J Med Genet 60 (12), 635-638 (2017)
   PUBMED   28807865
  REMARK    GeneRIF: Novel compound heterozygous nonsense mutations were
            identified in the GORAB gene of a geroderma osteodysplastica
            patient.
REFERENCE   4  (bases 1 to 2540)
  AUTHORS   Al-Bughaili,M., Neuhann,T.M., Flottmann,R., Mundlos,S.,
            Spielmann,M., Kornak,U. and Fischer-Zirnsak,B.
  TITLE     A de novo 1q23.3-q24.2 deletion combined with a GORAB missense
            mutation causes a distinctive phenotype with cutis laxa
  JOURNAL   J Hum Genet 62 (2), 325-328 (2017)
   PUBMED   27604556
  REMARK    GeneRIF: in the present study a de novo deletion on 1q23.3-q24.2
            combined with a GORAB missense mutation leads to a distinctive
            phenotype with features from Gerodermia osteodysplastica and also
            short stature, cutis laxa, frequent fractures, facial dysmorphism,
            cup-shaped ears and intellectual disability
REFERENCE   5  (bases 1 to 2540)
  AUTHORS   Yan,J., Zhang,D., Di,Y., Shi,H., Rao,H. and Huo,K.
  TITLE     A newly identified Pirh2 substrate SCYL1-BP1 can bind to MDM2 and
            accelerate MDM2 self-ubiquitination
  JOURNAL   FEBS Lett 584 (15), 3275-3278 (2010)
   PUBMED   20598683
REFERENCE   6  (bases 1 to 2540)
  AUTHORS   Kim,J., Kim,Y.S. and Ko,J.
  TITLE     CK beta 8/CCL23 induces cell migration via the Gi/Go
            protein/PLC/PKC delta/NF-kappa B and is involved in inflammatory
            responses
  JOURNAL   Life Sci 86 (9-10), 300-308 (2010)
   PUBMED   19951712
  REMARK    GeneRIF: The chemotaxis signal pathway induced by chemokines
            CKbeta8 and CKbeta8-1 is mediated via the Gi/Go protein,
            phospholipase C (PLC) and protein kinase C delta (PKC delta).
REFERENCE   7  (bases 1 to 2540)
  AUTHORS   Al-Dosari,M. and Alkuraya,F.S.
  TITLE     A novel missense mutation in SCYL1BP1 produces geroderma
            osteodysplastica phenotype indistinguishable from that caused by
            nullimorphic mutations
  JOURNAL   Am J Med Genet A 149A (10), 2093-2098 (2009)
   PUBMED   19681135
  REMARK    GeneRIF: study supplements the limited available data on SCYL1BP1
            and further establishes deficiency of this recently described
            golgin as the only known cause of geroderma osteodysplastica
REFERENCE   8  (bases 1 to 2540)
  AUTHORS   Hennies,H.C., Kornak,U., Zhang,H., Egerer,J., Zhang,X., Seifert,W.,
            Kuhnisch,J., Budde,B., Natebus,M., Brancati,F., Wilcox,W.R.,
            Muller,D., Kaplan,P.B., Rajab,A., Zampino,G., Fodale,V.,
            Dallapiccola,B., Newman,W., Metcalfe,K., Clayton-Smith,J.,
            Tassabehji,M., Steinmann,B., Barr,F.A., Nurnberg,P., Wieacker,P.
            and Mundlos,S.
  TITLE     Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a
            Rab-6 interacting golgin
  JOURNAL   Nat Genet 40 (12), 1410-1412 (2008)
   PUBMED   18997784
  REMARK    GeneRIF: Study demonstrates that gerodermia osteodysplastica is
            caused by loss-of-function mutations in SCYL1BP1, which is highly
            expressed in skin and osteoblasts.
REFERENCE   9  (bases 1 to 2540)
  AUTHORS   Zhang,L., Li,J., Wang,C., Ma,Y. and Huo,K.
  TITLE     A new human gene hNTKL-BP1 interacts with hPirh2
  JOURNAL   Biochem Biophys Res Commun 330 (1), 293-297 (2005)
   PUBMED   15781263
  REMARK    GeneRIF: assessment of interaction with hPirh2
REFERENCE   10 (bases 1 to 2540)
  AUTHORS   Di,Y., Li,J., Fang,J., Xu,Z., He,X., Zhang,F., Ling,J., Li,X.,
            Xu,D., Li,L., Li,Y.Y. and Huo,K.
  TITLE     Cloning and characterization of a novel gene which encodes a
            protein interacting with the mitosis-associated kinase-like protein
            NTKL
  JOURNAL   J Hum Genet 48 (6), 315-321 (2003)
   PUBMED   12783284
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK021814.1, AL162399.12,
            BC047476.1 and AK057661.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 16, 2019 this sequence version replaced NM_152281.2.
            
            Summary: This gene encodes a member of the golgin family, a group
            of coiled-coil proteins localized to the Golgi. The encoded protein
            may function in the secretory pathway. The encoded protein, which
            also localizes to the cytoplasm, was identified by interactions
            with the N-terminal kinase-like protein, and thus it may function
            in mitosis. Mutations in this gene have been associated with
            geroderma osteodysplastica. Alternatively spliced transcript
            variants have been described. [provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367763.8/ ENSP00000356737.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                AK021814.1         38-115
            79-79               AL162399.12        28434-28434
            80-665              AK021814.1         117-702
            666-701             BC047476.1         981-1016
            702-928             AK021814.1         739-965
            929-1214            BC047476.1         1244-1529
            1215-2231           AK057661.1         1069-2085
            2232-2540           AL162399.12        49716-50024
FEATURES             Location/Qualifiers
     source          1..2540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     gene            1..2540
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /note="golgin, RAB6 interacting"
                     /db_xref="GeneID:92344"
                     /db_xref="HGNC:HGNC:25676"
                     /db_xref="MIM:607983"
     exon            1..119
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1168
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /note="isoform a is encoded by transcript variant 1;
                     NTKL-binding protein 1; N-terminal kinase-like-binding
                     protein 1; RAB6-interacting golgin; SCYL1-binding protein
                     1; SCY1-like 1-binding protein 1"
                     /codon_start=1
                     /product="RAB6-interacting golgin isoform a"
                     /protein_id="NP_689494.3"
                     /db_xref="CCDS:CCDS1289.2"
                     /db_xref="GeneID:92344"
                     /db_xref="HGNC:HGNC:25676"
                     /db_xref="MIM:607983"
                     /translation="MAQGWAGFSEEELRRLKQTKDPFEPQRRLPAKKSRQQLQREKAL
                     VEQSQKLGLQDGSTSLLPEQLLSAPKQRVNVQKPPFSSPTLPSHFTLTSPVGDGQPQG
                     IESQPKELGLENSHDGHNNVEILPPKPDCKLEKKKVELQEKSRWEVLQQEQRLMEEKN
                     KRKKALLAKAIAERSKRTQAETMKLKRIQKELQALDDMVSADIGILRNRIDQASLDYS
                     YARKRFDRAEAEYIAAKLDIQRKTEIKEQLTEHLCTIIQQNELRKAKKLEELMQQLDV
                     EADEETLELEVEVERLLHEQEVESRRPVVRLERPFQPAEESVTLEFAKENRKCQEQAV
                     SPKVDDQCGNSSSIPFLSPNCPNQEGNDISAALAT"
     exon            120..477
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            478..579
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            580..720
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            721..2540
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2127..2132
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /note="hexamer: AATAAA"
     polyA_site      2152
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /note="major polyA site"
     regulatory      2522..2527
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
                     /note="hexamer: AATAAA"
     polyA_site      2540
                     /gene="GORAB"
                     /gene_synonym="GO; NTKLBP1; SCYL1BP1"
ORIGIN      
        1 gttggcagtc gcggctgcga gatttgggca cttttggggg tgccggtggc ccgggccgat
       61 ggcgcaaggt tgggcaggat tctctgagga ggaactgagg agactaaagc agactaaaga
      121 tccatttgaa ccacagcgac gtctccccgc gaagaaaagt cgacaacaac ttcagcgaga
      181 aaaagccctt gtagagcaaa gccaaaaact tgggcttcaa gatggatcaa cctcattact
      241 tccagagcag ctgctttcag caccaaaaca gagagttaac gttcaaaaac cacctttttc
      301 ttcccctact cttccgagtc atttcactct cacctccccc gttggtgatg gacaaccaca
      361 gggcattgaa agtcagccaa aggaactggg acttgagaat tcccatgatg gtcacaacaa
      421 tgttgagatt ctacctccaa agccagattg caaattggag aaaaagaaag tggaattgca
      481 agaaaaatct cgttgggaag tcctccaaca agaacaacgg ctaatggaag agaaaaataa
      541 acgtaaaaaa gctcttttgg ctaaagctat tgcagaaaga tccaaaagaa ctcaggcaga
      601 gaccatgaaa ctaaagcgga tccagaagga gttgcaggct ttagatgaca tggtgtcagc
      661 tgacattgga attctcagga accggattga tcaggccagc ttagactatt catacgctcg
      721 gaagcggttt gacagggctg aagcagagta cattgcagca aagctagata tacagcgcaa
      781 gactgagata aaagagcaac tcactgaaca cctttgtacg atcatacagc aaaatgagct
      841 ccgaaaggcc aagaagttgg aggagttgat gcaacaacta gatgtagaag ccgatgaaga
      901 gactttggag cttgaggtgg aggtcgagag attgctacac gaacaagaag tagaatcaag
      961 gagaccagtg gttcgtttag agaggccatt tcagcctgcg gaggagagtg tgacattaga
     1021 atttgctaaa gagaacagaa agtgtcaaga acaagctgtt tccccaaagg tagatgacca
     1081 gtgtggaaat tccagtagca tcccctttct tagtccaaac tgcccaaatc aagaaggtaa
     1141 tgacatttca gctgctttgg ccacatgaag ttctggtatt cttttgagct aatatggtat
     1201 tgagtaaagt atactttttg cagtagatca tgccctgacc tccaataaaa acctctttaa
     1261 aacaatgctg atttttgaat tcatgattag ttttagtaaa ttaataggtt tggccattct
     1321 aaaatccaaa attatgataa ctgtatttct aggggtatgt ttcaccttga ttttggcccg
     1381 gttctttcag tgttccgttt acccttttta ctgaaagtaa gtgacttaaa aggatggaag
     1441 aaaaactaca tggttggagt gtttttagat cagataaata tagaaaagta aaatggaaaa
     1501 tgatactcaa tacctagtta aactcatttc acttctcctg ggagacgtat taagactgga
     1561 agtcctattt tatttaatca gtatcagtaa aaagacaaaa attacagtgt gaacaagaga
     1621 aaaacaggaa tagaagaaaa aagttgcagg ttgaattatc tatctggata ttactagagt
     1681 tgtaaaacac aacttggaaa ctggaattta tgtgaagaac caaacaactt aaaccagcat
     1741 cacttttgtc ttcaatttgc cttccagtga ttttagttta caacctgcgt tttgttattt
     1801 gaaacacaca cacttatata taaacacatg taattttact attttattgt ctttccttta
     1861 atcgatgaat tgattaaatt tagacaatta aaacatttct aaagtgagac tgaaaataat
     1921 atagaaaatc tcattgctac ttgtgattat caaaaaaagt atgtattttc tttctaaagt
     1981 tatctataaa tatgtttttg atatgttgga catgaattac cctgtcatga agcgtttaaa
     2041 ttgttaaaat gctgattttc ttattagttt gttaattgcc tgttactagt acttgaccaa
     2101 tacattgtgc tatatgtaaa tgtgtaaata aatattgtaa ttttctcaca aagtctgtga
     2161 atatcacatt atgatttatt tatcagaaat tccaaaaagt aaaaatatta cctttgagga
     2221 cttttttttt ttaaaaaaag aattattatc agagaacata agcacaagta taagattgta
     2281 tccataaaag tttctgaaaa acttagggac atcctgtttt taaatgggtt tgtttgaggg
     2341 tattatcttc tggtaatata gatgagcttt atatttttat attatgtaat ttgagttgaa
     2401 agtataacat tttactactg acttctctaa acagaagcat ttctatagat agttgtgctt
     2461 ttatttatga aatacataaa agccaacagt ttcattgtct aacacacttc tttttctaag
     2521 gaataaacaa gtctgatgta
//
