LOCUS       NM_001278293            3988 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ARF like GTPase 6 (ARL6), transcript variant 3, mRNA.
ACCESSION   NM_001278293
VERSION     NM_001278293.3
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 3988)
  AUTHORS   Wang,J., Che,F., Zhao,Y., Wei,L., Chen,D., Dai,C., Zhang,B.,
            Zhou,X., Yang,B. and Chen,Z.
  TITLE     The Prognostic and Therapeutic Roles of ARL-6 Gene in
            Hepatocellular Carcinoma
  JOURNAL   Int J Med Sci 21 (2), 207-218 (2024)
   PUBMED   38169538
  REMARK    GeneRIF: The Prognostic and Therapeutic Roles of ARL-6 Gene in
            Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3988)
  AUTHORS   Gouronc,A., Zilliox,V., Jacquemont,M.L., Darcel,F., Leuvrey,A.S.,
            Nourisson,E., Antin,M., Alessandri,J.L., Doray,B., Gueguen,P.,
            Payet,F., Randrianaivo,H., Stoetzel,C., Scheidecker,S.,
            Flodrops,H., Dollfus,H. and Muller,J.
  TITLE     High prevalence of Bardet-Biedl syndrome in La Reunion Island is
            due to a founder variant in ARL6/BBS3
  JOURNAL   Clin Genet 98 (2), 166-171 (2020)
   PUBMED   32361989
  REMARK    GeneRIF: High prevalence of Bardet-Biedl syndrome in La Reunion
            Island is due to a founder variant in ARL6/BBS3.
REFERENCE   3  (bases 1 to 3988)
  AUTHORS   Singh,S.K., Gui,M., Koh,F., Yip,M.C. and Brown,A.
  TITLE     Structure and activation mechanism of the BBSome membrane protein
            trafficking complex
  JOURNAL   Elife 9, e53322 (2020)
   PUBMED   31939736
  REMARK    GeneRIF: Structure and activation mechanism of the BBSome membrane
            protein trafficking complex.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3988)
  AUTHORS   Pretorius,P.R., Baye,L.M., Nishimura,D.Y., Searby,C.C., Bugge,K.,
            Yang,B., Mullins,R.F., Stone,E.M., Sheffield,V.C. and
            Slusarski,D.C.
  TITLE     Identification and functional analysis of the vision-specific BBS3
            (ARL6) long isoform
  JOURNAL   PLoS Genet 6 (3), e1000884 (2010)
   PUBMED   20333246
  REMARK    GeneRIF: These data demonstrate that the BBS3L transcript is
            required for proper retinal function and organization.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3988)
  AUTHORS   Ingley,E., Williams,J.H., Walker,C.E., Tsai,S., Colley,S.,
            Sayer,M.S., Tilbrook,P.A., Sarna,M., Beaumont,J.G. and Klinken,S.P.
  TITLE     A novel ADP-ribosylation like factor (ARL-6), interacts with the
            protein-conducting channel SEC61beta subunit
  JOURNAL   FEBS Lett 459 (1), 69-74 (1999)
   PUBMED   10508919
REFERENCE   6  (bases 1 to 3988)
  AUTHORS   Jacobs,S., Schilf,C., Fliegert,F., Koling,S., Weber,Y.,
            Schurmann,A. and Joost,H.G.
  TITLE     ADP-ribosylation factor (ARF)-like 4, 6, and 7 represent a subgroup
            of the ARF family characterization by rapid nucleotide exchange and
            a nuclear localization signal
  JOURNAL   FEBS Lett 456 (3), 384-388 (1999)
   PUBMED   10462049
REFERENCE   7  (bases 1 to 3988)
  AUTHORS   Sheffield,V.C., Carmi,R., Kwitek-Black,A., Rokhlina,T.,
            Nishimura,D., Duyk,G.M., Elbedour,K., Sunden,S.L. and Stone,E.M.
  TITLE     Identification of a Bardet-Biedl syndrome locus on chromosome 3 and
            evaluation of an efficient approach to homozygosity mapping
  JOURNAL   Hum Mol Genet 3 (8), 1331-1335 (1994)
   PUBMED   7987310
REFERENCE   8  (bases 1 to 3988)
  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   9  (bases 1 to 3988)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 3988)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292958.1, BU183949.1,
            AC110491.5, BM464340.1, BQ441226.1, BM982145.1 and AL138043.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001278293.2.
            
            Summary: The protein encoded by this gene belongs to the ARF-like
            (ADP ribosylation factor-like) sub-family of the ARF family of
            GTP-binding proteins which are involved in regulation of
            intracellular traffic. Mutations in this gene are associated with
            Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding
            long isoform BBS3L, has been described (PMID: 20333246). [provided
            by RefSeq, Apr 2016].
            
            Transcript Variant: Variants 1, 2 and 3 encode the same isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK292958.1, SRR1660809.94976.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000463745.6/ ENSP00000419619.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1003              AK292958.1         1-1003
            1004-1032           BU183949.1         385-413
            1033-1033           AC110491.5         146830-146830       c
            1034-1294           BU183949.1         415-675
            1295-2049           BM464340.1         17-771
            2050-2309           AC110491.5         145554-145813       c
            2310-2724           BQ441226.1         3-417
            2725-3379           BM982145.1         76-730              c
            3380-3988           AL138043.1         16-624
FEATURES             Location/Qualifiers
     source          1..3988
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..3988
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /note="ARF like GTPase 6"
                     /db_xref="GeneID:84100"
                     /db_xref="HGNC:HGNC:13210"
                     /db_xref="MIM:608845"
     exon            1..220
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /inference="alignment:Splign:2.1.0"
     exon            221..370
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /inference="alignment:Splign:2.1.0"
     CDS             248..808
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /note="isoform 1 is encoded by transcript variant 3;
                     Bardet-Biedl syndrome 3 protein; ADP ribosylation factor
                     like GTPase 6; ARL6 interacting reticulophagy regulator 1"
                     /codon_start=1
                     /product="ADP-ribosylation factor-like protein 6 isoform
                     1"
                     /protein_id="NP_001265222.1"
                     /db_xref="CCDS:CCDS2928.1"
                     /db_xref="GeneID:84100"
                     /db_xref="HGNC:HGNC:13210"
                     /db_xref="MIM:608845"
                     /translation="MGLLDRLSVLLGLKKKEVHVLCLGLDNSGKTTIINKLKPSNAQS
                     QNILPTIGFSIEKFKSSSLSFTVFDMSGQGRYRNLWEHYYKEGQAIIFVIDSSDRLRM
                     VVAKEELDTLLNHPDIKHRRIPILFFANKMDLRDAVTSVKVSQLLCLENIKDKPWHIC
                     ASDAIKGEGLQEGVDWLQDQIQTVKT"
     exon            371..432
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /inference="alignment:Splign:2.1.0"
     exon            433..501
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /inference="alignment:Splign:2.1.0"
     exon            502..596
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /inference="alignment:Splign:2.1.0"
     exon            597..726
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /inference="alignment:Splign:2.1.0"
     exon            727..782
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /inference="alignment:Splign:2.1.0"
     exon            783..3988
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3413..3418
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /note="hexamer: CATAAA"
     polyA_site      3437
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
     regulatory      3846..3851
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /note="hexamer: ATTAAA"
     polyA_site      3868
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /note="major polyA site"
     regulatory      3919..3924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /note="hexamer: AATAAA"
     regulatory      3933..3938
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /note="hexamer: ATTACA"
     polyA_site      3944
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
     regulatory      3949..3954
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /note="hexamer: AATAAA"
     polyA_site      3954
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
     polyA_site      3988
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
ORIGIN      
        1 aaggcgcctg ctcagcgact gatgcacaga ctgctgcaga ggctgccggt tttcccaact
       61 tctagagacg gctttgctca ttaccaggca tccttcccat gtaggcatcg agaagaaggc
      121 tgagggaccc tcgcaccaga tttccatccc ggagaccgat acgagtgcgt ccattcctgt
      181 tgccagctcc tgcgccctcc ggactaacct caaaaaccag ctggtttgta aatatttgaa
      241 tcacattatg ggattgctag acagactttc agtcttgctt ggcctgaaga agaaggaggt
      301 tcatgttttg tgccttgggc tagataatag tggcaaaacg acgatcatta acaaacttaa
      361 accttcaaat gctcaatctc aaaatatcct tccaacaata ggattcagca tagagaaatt
      421 caaatcatcc agtttgtcat ttacagtgtt tgacatgtca ggtcaaggaa gatacagaaa
      481 tctctgggaa cactattata aagaaggcca agctattatt tttgtcattg atagtagtga
      541 tagattaaga atggttgtgg ccaaagaaga actcgatact cttctgaatc atccagatat
      601 taaacaccgt cgaattccaa tcttattctt tgcaaataaa atggatctta gagatgcagt
      661 gacatctgta aaagtgtctc agttgctgtg tttagagaac atcaaagata aaccctggca
      721 tatttgtgct agtgatgcca taaaaggaga aggcttgcaa gaaggtgtag actggcttca
      781 agatcagatc cagactgtga agacatgaaa agataatagt tggaaacctc agcaattttc
      841 aattcaagga atctatctaa gacaaataga atacattttg taaaagatgt ttatgcatca
      901 aaaaatataa ttttctgctt gcatttatgg actctgacct ttttaagaac ataggacttc
      961 aggtatgcta atttggccat taattattta aaaactaaat attccctcaa aagggctccc
     1021 tagaattatc aagttcttag tgaaggtcta catttgattg tacgtagaat gtttaaaagt
     1081 cagttataag ccatctcatc ccatcataat ttatgatatg tttaatatat tttatttttt
     1141 aattgtcttt ttaaaaaatt tagtttatga ctttgcagta tgaattgtgc ttgtgaaaaa
     1201 gaactttaaa tatttataag ggaccatggg taattaatat atattcaatt tttactatgt
     1261 gtcactgtca ataaaatgta aaatataatg tgccaactag tgcgctttgt ttatgctgaa
     1321 aagaataatg ctctgttagt atggtatttc gtgtcatact gtcaagcatt tgtaaaccat
     1381 ctgagactaa gttaagctga atttatttat tcagtgtatg ttgaacatct ctacaccaac
     1441 tagtcagaca tagtcctagg caatgatgtt acgaggtaaa taagacatat ccttatcttc
     1501 agagaactta aaatttaatg agggataatt tgagaacctt tccatggata gtatctaatt
     1561 ttatttcatt ggctgaatga aaatattgca tcttcagatt aagaggtata aagtaaatta
     1621 atatttgact gttcagtaat cattactgac atcttgtttt tcacttttaa atgcctccaa
     1681 tttaccatag cactttgtta aaataaattg tgacttttaa ctttttcatg aacataactg
     1741 ctacataaat gttctttaga attttagaca tatctcaggc acacaaatta ttagttctca
     1801 caaattagag aacacttata attgtgaact ctaaatagaa accttcattt taatcactga
     1861 gcaacagtat atagagcaat attgttgatc ctgataaaca ctgcatataa agaaaaactg
     1921 taatatacaa tatataccat ctcaagtatg cttagctttg aaaatgatga aaatagaagg
     1981 caaaagtaag tgagtaataa agatgttata gtaactgcag tagtggtaca tgtttcacaa
     2041 agattttaat aaaagcacat aaagctacaa taaaagttct atattccagt ttcttatagt
     2101 ccagaaatag cagtgatttg gcatttggca aattgaaagt tacccagaaa attccaatgg
     2161 ctcagcatct tagctagttt accatctctc ttgtaaattg ttttagagga tacaaaatga
     2221 aaatctcatt aatctaaagt tgctgcagat ataggaagga cataaggatg gaaacaatga
     2281 atgtaatttt ttaaaaaact gatatgctac aactatttta ggatggagaa agaattgatt
     2341 gagaattcaa atcctcactc acttaccata aggtagtaat aaaattaata atagttacta
     2401 ctatatgatc attatattat aagcaggtat tacacataca gaattttcaa catttaatcc
     2461 tcccaataag cctatgtggc aggttttatt atttccattt tatagatcag taaactgagg
     2521 cgttaaaatg ttatgtaatt tgccaaagtt caaaaagctg gtaagtctgg tactaggatt
     2581 cagtaccaag cagtctgttt taagacagat gattcaagag tatgatagat attagaaata
     2641 cagatatatc tgccagaata acaattaaaa tgatagaaaa ggctcttact tgggacagca
     2701 accaggacag ggatggtaga gggaaggtca gagactagag actactcttt gctttttttg
     2761 ttttcttttt ttttctttta aagctattaa cactactcaa attttaaact ctggatacaa
     2821 atgactttga taaaagtcct taaaactatt ttgacattaa attatttggt attccacaaa
     2881 ctacagtagc tcatacctat gcaaatattt agaagaagga gaagtaccct ttttctttgt
     2941 tttcatgatc tccaaaatct agtttttagt ctataaacat ccatccctac tccacatttt
     3001 catgtaaaga ttatgtagaa gttgggcaac agtgtagtca caggatgtca tataagtgtg
     3061 aataagctga gattattgca tttgtattta gcatattata caattaaaat gtattttatt
     3121 aaacctgaag caagttttct ttcatgtcta gacatcagtg tgttacagag tttaattcat
     3181 taagctctgt atttgaatat aacaccttgt aaaaatgttt gaaacttatc ctcttgtatg
     3241 ttaaatattt aaatatttgt atatggccct attcagcctg tgctttataa atcacaaaag
     3301 agctgggttt tatatgtttg ttttttattt ctaagctctc tgcgaaaaag ttacaaattg
     3361 tctccttaag atattttttc tttgtaattt ttttatatca tgttgtgatt tccataaata
     3421 tgtgcagtta ctcttgataa tacttgtctt attcatttca ggttgctata acaaagtacc
     3481 atagactggg tggcttataa acgacagaaa tttatttctt acagctctgg agctggaagt
     3541 ctgagatcag attaccagca tggttgggtt ctggtgagag ccgtcttggt tgcagactgc
     3601 catcttcttg tatcctcaca tggccaaaag aggacaagag aactctctgg agtctgtttg
     3661 ataagagcat gaatcccatt acatcttcac atggctcctc ccaaagaccc cacctcctaa
     3721 tatcatcaca tgtcatcaca tagggggtta gaatttcaac atagaaattt tgggagaaca
     3781 caaacattca gtcagttgca atacttaagg caaattcatc ttgcttataa ctctggtgca
     3841 tgtgcattaa aatactattg cattgtaact gagtttgtac ctattttctg ctttctgatt
     3901 atttcctttg ttcatgaaaa taaatgactg gtattacaag gtcacctaaa taaataggtt
     3961 tgtgtacgtc tgcgactaga gagaaata
//
