LOCUS       NM_001174150            3971 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens ARF like GTPase 13B (ARL13B), transcript variant 3,
            mRNA.
ACCESSION   NM_001174150
VERSION     NM_001174150.2
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 3971)
  AUTHORS   Lin,Z., Shen,Y., Li,Y., Lu,C., Zhu,Y., He,R., Cao,Z., Yin,Z.,
            Gao,H., Guo,B., Ma,X., Cao,M. and Luo,M.
  TITLE     Novel compound heterozygous variants in ARL13B lead to Joubert
            syndrome
  JOURNAL   J Cell Physiol 239 (4), e31189 (2024)
   PUBMED   38219074
  REMARK    GeneRIF: Novel compound heterozygous variants in ARL13B lead to
            Joubert syndrome.
REFERENCE   2  (bases 1 to 3971)
  AUTHORS   Shi,P., Tian,J., Mallinger,J.C., Ling,D., Deleyrolle,L.P.,
            McIntyre,J.C., Caspary,T., Breunig,J.J. and Sarkisian,M.R.
  TITLE     Increasing Ciliary ARL13B Expression Drives Active and
            Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia
  JOURNAL   Cells 12 (19), 2354 (2023)
   PUBMED   37830570
  REMARK    GeneRIF: Increasing Ciliary ARL13B Expression Drives Active and
            Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3971)
  AUTHORS   Mahajan,D., Madugula,V. and Lu,L.
  TITLE     Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by
            interacting with its RVEP motif containing ciliary targeting
            sequence
  JOURNAL   J Biol Chem 299 (5), 104604 (2023)
   PUBMED   36907439
  REMARK    GeneRIF: Rab8 and TNPO1 are ciliary transport adaptors for GTPase
            Arl13b by interacting with its RVEP motif containing ciliary
            targeting sequence.
REFERENCE   4  (bases 1 to 3971)
  AUTHORS   Yinsheng,Z., Miyoshi,K., Qin,Y., Fujiwara,Y., Yoshimura,T. and
            Katayama,T.
  TITLE     TMEM67 is required for the gating function of the transition zone
            that controls entry of membrane-associated proteins ARL13B and
            INPP5E into primary cilia
  JOURNAL   Biochem Biophys Res Commun 636 (Pt 1), 162-169 (2022)
   PUBMED   36334440
  REMARK    GeneRIF: TMEM67 is required for the gating function of the
            transition zone that controls entry of membrane-associated proteins
            ARL13B and INPP5E into primary cilia.
REFERENCE   5  (bases 1 to 3971)
  AUTHORS   Hori,Y., Kobayashi,T., Kikko,Y., Kontani,K. and Katada,T.
  TITLE     Domain architecture of the atypical Arf-family GTPase Arl13b
            involved in cilia formation
  JOURNAL   Biochem Biophys Res Commun 373 (1), 119-124 (2008)
   PUBMED   18554500
  REMARK    GeneRIF: These findings suggest that N and C domains of Arl13b
            cooperatively regulate its ciliary localization and that N
            domain-dependent self-association of Arl13b may be important for
            its function in cilia biogenesis.
REFERENCE   6  (bases 1 to 3971)
  AUTHORS   Cantagrel,V., Silhavy,J.L., Bielas,S.L., Swistun,D., Marsh,S.E.,
            Bertrand,J.Y., Audollent,S., Attie-Bitach,T., Holden,K.R.,
            Dobyns,W.B., Traver,D., Al-Gazali,L., Ali,B.R., Lindner,T.H.,
            Caspary,T., Otto,E.A., Hildebrandt,F., Glass,I.A., Logan,C.V.,
            Johnson,C.A., Bennett,C., Brancati,F., Valente,E.M., Woods,C.G. and
            Gleeson,J.G.
  CONSRTM   International Joubert Syndrome Related Disorders Study Group
  TITLE     Mutations in the cilia gene ARL13B lead to the classical form of
            Joubert syndrome
  JOURNAL   Am J Hum Genet 83 (2), 170-179 (2008)
   PUBMED   18674751
  REMARK    GeneRIF: ARL13B has an evolutionarily conserved role mediating
            cilia function in multiple organs
REFERENCE   7  (bases 1 to 3971)
  AUTHORS   Yoshimura,S., Egerer,J., Fuchs,E., Haas,A.K. and Barr,F.A.
  TITLE     Functional dissection of Rab GTPases involved in primary cilium
            formation
  JOURNAL   J Cell Biol 178 (3), 363-369 (2007)
   PUBMED   17646400
REFERENCE   8  (bases 1 to 3971)
  AUTHORS   Fan,Y., Esmail,M.A., Ansley,S.J., Blacque,O.E., Boroevich,K.,
            Ross,A.J., Moore,S.J., Badano,J.L., May-Simera,H., Compton,D.S.,
            Green,J.S., Lewis,R.A., van Haelst,M.M., Parfrey,P.S.,
            Baillie,D.L., Beales,P.L., Katsanis,N., Davidson,W.S. and
            Leroux,M.R.
  TITLE     Mutations in a member of the Ras superfamily of small GTP-binding
            proteins causes Bardet-Biedl syndrome
  JOURNAL   Nat Genet 36 (9), 989-993 (2004)
   PUBMED   15314642
REFERENCE   9  (bases 1 to 3971)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 3971)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC104036.1, BC062993.1 and
            AA775026.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001174150.1.
            
            Summary: This gene encodes a member of the ADP-ribosylation
            factor-like family. The encoded protein is a small GTPase that
            contains both N-terminal and C-terminal guanine nucleotide-binding
            motifs. This protein is localized in the cilia and plays a role in
            cilia formation and in maintenance of cilia. Mutations in this gene
            are the cause of Joubert syndrome 8. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (3) differs in the 3' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform (1).
            
            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 :: SRR1803615.212916.1,
                                           SRR1803614.165393.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394222.8/ ENSP00000377769.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2447              BC104036.1         7-2453
            2448-3574           BC062993.1         2079-3205
            3575-3971           AA775026.1         5-401               c
FEATURES             Location/Qualifiers
     source          1..3971
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.1-q11.2"
     gene            1..3971
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /note="ARF like GTPase 13B"
                     /db_xref="GeneID:200894"
                     /db_xref="HGNC:HGNC:25419"
                     /db_xref="MIM:608922"
     exon            1..328
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     CDS             270..1556
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /note="isoform 1 is encoded by transcript variant 3;
                     ADP-ribosylation factor-like 2-like 1; ARL2-like protein
                     1; ADP-ribosylation factor-like 13B; ADP ribosylation
                     factor like GTPase 13B"
                     /codon_start=1
                     /product="ADP-ribosylation factor-like protein 13B isoform
                     1"
                     /protein_id="NP_001167621.1"
                     /db_xref="CCDS:CCDS2925.1"
                     /db_xref="GeneID:200894"
                     /db_xref="HGNC:HGNC:25419"
                     /db_xref="MIM:608922"
                     /translation="MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGE
                     YPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFVVDSSDEE
                     RMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC
                     QIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQE
                     RAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKK
                     NQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDET
                     DRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLP
                     KLEPLGETHHNDFYRKPLPPLAVPQRPNSDAHDVIS"
     exon            329..399
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     exon            400..649
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     exon            650..755
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     exon            756..958
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1067
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1293
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1410
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..1479
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..3971
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3552..3557
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /note="hexamer: AATAAA"
     polyA_site      3559
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
     polyA_site      3572
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /note="major polyA site"
     regulatory      3947..3952
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /note="hexamer: TATAAA"
     polyA_site      3971
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
ORIGIN      
        1 gcttttcttt agccgggtcc cgctaactcg gctacggtgt atctgcgtct ttggtcaggt
       61 tgttccttgg ctaagagggc agtcgtcgcg gacccacgcg gttagcaagg cttagtgctc
      121 gggccggccg ccttcacttc cctcccggct tttcctcccg acttatccac tttaggggcg
      181 tctcggagtg ccggaggccc ccggggaaga gcggggtgcc ggtgtccgct ccgggctcgg
      241 atgggaagtg gtgggaggag cgacccggga tgttcagtct gatggccagt tgctgcggct
      301 ggttcaagcg gtggcgggag cctgtcagaa aggtgactct tttgatggtg ggacttgata
      361 atgctggtaa aaccgcaaca gcaaagggaa tccaaggaga ataccctgaa gatgtagctc
      421 ctactgttgg attttcaaaa attaacctta gacaaggaaa gtttgaagtc accatctttg
      481 acttgggagg tggaataaga attcggggaa tctggaagaa ttactatgct gaatcctatg
      541 gggtaatatt tgttgtggat tccagtgatg aagagagaat ggaagagaca aaagaggcta
      601 tgtcagaaat gctaagacat cctaggatat cgggaaagcc tatattggtg ttggcaaata
      661 aacaagataa agaaggagct ttaggagaag ctgatgtcat tgaatgtcta tctctggaaa
      721 aattggtcaa tgagcacaag tgcctgtgtc agatagaacc atgttcagca atctcggggt
      781 atggaaagaa aattgacaag tccattaaaa aaggccttta ttggctgcta catgttattg
      841 caagagactt tgatgcctta aatgaacgca tccaaaaaga gacaacagag cagcgtgctc
      901 ttgaggaaca agagaaacaa gaaagagctg aacgagtgcg aaaattacga gaagaaagaa
      961 aacaaaatga acaggagcag gctgaactcg atggaaccag tggtctggct gagttggacc
     1021 cagaaccaac gaatcctttc cagccaatag catctgtaat cattgagaat gaaggaaaac
     1081 ttgaaagaga gaaaaaaaac caaaaaatgg agaaagacag tgatggctgc cacctgaaac
     1141 ataaaatgga gcatgagcaa atagagacac aaggccaggt taatcacaat ggccaaaaaa
     1201 ataatgaatt tggactagta gaaaattata aggaggcatt aacacagcag ttaaagaatg
     1261 aagatgagac agaccggcca tcattggaat cagctaatgg taaaaagaaa actaagaaac
     1321 taagaatgaa aaggaaccac cgggtagaac cacttaatat agatgactgt gctcctgaga
     1381 gtccaacgcc acccccaccc cctcctcctg ttggctgggg aacccctaaa gtcactagac
     1441 ttccaaaact tgagcctctt ggtgaaacac atcataatga tttctatagg aagccactgc
     1501 ctcccctggc tgtgccacag cgacctaaca gtgatgctca tgatgtgatc tcataaacaa
     1561 gacgtatgga ggagttctct taatatcagc aaggtgaact gggacattct tctttctcag
     1621 aagaagaaac atcttgtaaa ttgatgactg gggcaagata accataataa ttttagtgag
     1681 aagattaata ctcaaggacc tgacttgata attacttatt tgtgtttttc atggttaaaa
     1741 aaataaaaga agcacaatga ccagtacatg aaatcagcat ttggaccaaa ttagcaagat
     1801 ttactgttga ctctggttta tacatcccca ctcatgagca tacttctgaa ggaaaacttt
     1861 acaaaaagag ccaatggact cagcactttc tttactattt gttcaatagc ctatatttct
     1921 agatattaaa tattttttgt aagatatatg cacatagaag ggggacttct aggaatttat
     1981 aaccaaaatt ttaaaactat ttttatattt ttttaaatct ttaaaaattt taattactgt
     2041 gatattgatt atacaccttt tttatagatg atttgtttaa attatatctg gaaaatagag
     2101 ttgatttact ttcagacatg aactatacaa acaggatata tttatatggc ttgaggtatg
     2161 ttttgtaata gcgttgttct ttaagtgtac atcgtaattt gacctaattt aaaaataata
     2221 tattttcgaa gtagtagatt ctcagatctt tattctaaca attacatgat ttgaaaacag
     2281 tactcaatga gactggaaat accttttgta cctaaatgtt ttttaaatta atcaaaatac
     2341 attctgtgag atactattaa aagtctcagt aaagtcctat tttaaaggtt agacactttc
     2401 agagatcaag gtgctcccta tactcccttg ttccatcaga agctgcagtg actcttttag
     2461 gtgattctaa ttctttcatg ccttgaaatt aaactatgaa attaaaggca gaaaaactgg
     2521 aaaacctact gcaggtccag agacttctgt tttacaactg ggaaacagct tgtgtactaa
     2581 agtaatgaga ataaaaatgt tggcccaaaa ttacttttat aaataaataa ttccaaaata
     2641 atttcttaat ttaaaatgat agcacttctc ttgcacttaa gaatggcatc cataagattc
     2701 tgtatttggc atttagacta acttctagat gtatattttt aataatagat tcataatgtt
     2761 acatttaatt gaaaacaaac ctttatatcc aatgaaaata gtataaacag aatgattttt
     2821 ataccacctt gttaagattg gtgcttttgg taacttgtac tgacacaaca gacatgtgct
     2881 agtatctgat aacattaagt acattttatg tcgtttaata taattattta ctttaaaaat
     2941 tgtacttcag aacatcagat tttattcaca ttttttaact cactgaactt taataatcag
     3001 gtcacctgta ctctagtcag cactgtatat attcttggag tttgtacatg ggacttagca
     3061 accacactga gtgaggtaaa agcatttgat ttcagatcta aaattcgtaa caacctaaat
     3121 ttgagaggtg gctgaaatgt gatgaaaagc aatacgaaaa gacaatgtaa actttgaaaa
     3181 ggattttaga gggaaaattg catagctttt tgtaacattt acttaatttt aaaactaaac
     3241 tcatactttt gctatctttt taatatttat ctcgtttggg agtatacgtg tttttaaaat
     3301 ttgtgttttc tatctgttta ctatagtgta gctactggct tcatttaata aaaataaatg
     3361 attttgaaat taaatataat atagaattca cattttatat agctctctca aaaattaatt
     3421 tttattcctt aagcatttta aaaacatttt aaaaaatgtt ttgtaaatcc aggtgtattt
     3481 taacaattaa atgcctattt tgttatatgt tatactttta ttcttaattc tgaattttga
     3541 cattttcaca caataaaaat aatttatatc aatattctgt ttctcttttc aattggtaga
     3601 tttaaatgat ttcctttggg taataaaata ggtaaagatt ttaaaatatg attattgaaa
     3661 aacagtttaa atcagtagat taaaataatg catttttttg atactttaca cacaaaactt
     3721 ttttctctct gcaagttttt atgtatgtgg gaaagaattt gtgattttaa atgcagctac
     3781 aaatagcatt tcaccatatg atgttagagg atttgatgtc tgtcttgcgt taaagctgtt
     3841 ggtcaacaga tatgttttta tgtatttaaa agaggctctt gtgtgccttt atgtgtaaaa
     3901 tgcatattac gtagtataca tgatattgta tgtaactgac ttcaaatata aaactatgca
     3961 tagaaacaac a
//
