LOCUS       NM_001317056            3423 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens autophagy related 9B (ATG9B), transcript variant 3,
            mRNA.
ACCESSION   NM_001317056 XM_011516064
VERSION     NM_001317056.2
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 3423)
  AUTHORS   Xu,W., Tang,Y., Yang,Y., Wang,C., Liu,C., Zhang,J., Zhao,L. and
            Wang,G.
  TITLE     Depletion of CPNE7 sensitizes colorectal cancer to 5-fluorouracil
            by downregulating ATG9B expression
  JOURNAL   J Cell Mol Med 28 (8), e18261 (2024)
   PUBMED   38526029
  REMARK    GeneRIF: Depletion of CPNE7 sensitizes colorectal cancer to
            5-fluorouracil by downregulating ATG9B expression.
REFERENCE   2  (bases 1 to 3423)
  AUTHORS   Chiduza,G.N., Garza-Garcia,A., Almacellas,E., De Tito,S., Pye,V.E.,
            van Vliet,A.R., Cherepanov,P. and Tooze,S.A.
  TITLE     ATG9B is a tissue-specific homotrimeric lipid scramblase that can
            compensate for ATG9A
  JOURNAL   Autophagy 20 (3), 557-576 (2024)
   PUBMED   37938170
  REMARK    GeneRIF: ATG9B is a tissue-specific homotrimeric lipid scramblase
            that can compensate for ATG9A.
REFERENCE   3  (bases 1 to 3423)
  AUTHORS   Karami,B., Azimi,A., Rahimi,Z., Mahmoudi,S. and Jalilian,N.
  TITLE     Contribution of NOS3AS Variants to Susceptibility to Essential
            Hypertension: A Study in Kermanshah Province, Western Iran
  JOURNAL   Biochem Genet 61 (5), 2149-2158 (2023)
   PUBMED   36966459
  REMARK    GeneRIF: Contribution of NOS3AS Variants to Susceptibility to
            Essential Hypertension: A Study in Kermanshah Province, Western
            Iran.
REFERENCE   4  (bases 1 to 3423)
  AUTHORS   Liang,W., Moyzis,A.G., Lampert,M.A., Diao,R.Y., Najor,R.H. and
            Gustafsson,A.B.
  TITLE     Aging is associated with a decline in Atg9b-mediated autophagosome
            formation and appearance of enlarged mitochondria in the heart
  JOURNAL   Aging Cell 19 (8), e13187 (2020)
   PUBMED   32627317
  REMARK    GeneRIF: Aging is associated with a decline in Atg9b-mediated
            autophagosome formation and appearance of enlarged mitochondria in
            the heart.
REFERENCE   5  (bases 1 to 3423)
  AUTHORS   Kusama,Y., Sato,K., Kimura,N., Mitamura,J., Ohdaira,H. and
            Yoshida,K.
  TITLE     Comprehensive analysis of expression pattern and promoter
            regulation of human autophagy-related genes
  JOURNAL   Apoptosis 14 (10), 1165-1175 (2009)
   PUBMED   19657746
REFERENCE   6  (bases 1 to 3423)
  AUTHORS   Kang,M.R., Kim,M.S., Oh,J.E., Kim,Y.R., Song,S.Y., Kim,S.S.,
            Ahn,C.H., Yoo,N.J. and Lee,S.H.
  TITLE     Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B
            and ATG12 in gastric and colorectal cancers with microsatellite
            instability
  JOURNAL   J Pathol 217 (5), 702-706 (2009)
   PUBMED   19197948
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3423)
  AUTHORS   Fish,J.E., Matouk,C.C., Yeboah,E., Bevan,S.C., Khan,M., Patil,K.,
            Ohh,M. and Marsden,P.A.
  TITLE     Hypoxia-inducible expression of a natural cis-antisense transcript
            inhibits endothelial nitric-oxide synthase
  JOURNAL   J Biol Chem 282 (21), 15652-15666 (2007)
   PUBMED   17403686
REFERENCE   8  (bases 1 to 3423)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 3423)
  AUTHORS   Yamada,T., Carson,A.R., Caniggia,I., Umebayashi,K., Yoshimori,T.,
            Nakabayashi,K. and Scherer,S.W.
  TITLE     Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes
            an autophagy-related protein (APG9-like2) highly expressed in
            trophoblast
  JOURNAL   J Biol Chem 280 (18), 18283-18290 (2005)
   PUBMED   15755735
  REMARK    GeneRIF: APG9L2 is highly expressed in placenta (trophoblast cells)
            and pituitary gland of adult tissues.
REFERENCE   10 (bases 1 to 3423)
  AUTHORS   Robb,G.B., Carson,A.R., Tai,S.C., Fish,J.E., Singh,S., Yamada,T.,
            Scherer,S.W., Nakabayashi,K. and Marsden,P.A.
  TITLE     Post-transcriptional regulation of endothelial nitric-oxide
            synthase by an overlapping antisense mRNA transcript
  JOURNAL   J Biol Chem 279 (36), 37982-37996 (2004)
   PUBMED   15234981
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY515311.1, BX420361.2,
            AC010973.7, BM821239.1, BX380863.2 and BU741121.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 7, 2021 this sequence version replaced NM_001317056.1.
            
            Summary: This gene functions in the regulation of autophagy, a
            lysosomal degradation pathway. This gene also functions as an
            antisense transcript in the posttranscriptional regulation of the
            endothelial nitric oxide synthase 3 gene, which has 3' overlap with
            this gene on the opposite strand. Mutations in this gene and
            disruption of the autophagy process have been associated with
            multiple cancers. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Sep 2012].
            
            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 :: SRR14038193.2731545.1,
                                           SRR14038195.908224.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000639579.2/ ENSP00000491504.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1561              AY515311.1         6-1566
            1562-1924           BX420361.2         1-363
            1925-224142         AC010973.7         1-222218
            224143-224629       BX420361.2         364-850
            224630-224866       BM821239.1         161-397
            224867-225477       BX380863.2         146-756             c
            225478-225640       BU741121.1         18-180              c
FEATURES             Location/Qualifiers
     source          1..3423
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..3423
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /note="autophagy related 9B"
                     /db_xref="GeneID:285973"
                     /db_xref="HGNC:HGNC:21899"
                     /db_xref="MIM:612205"
     exon            1..621
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..2846
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /note="endothelial nitric oxide synthase antisense;
                     autophagy 9-like 2 protein; APG9-like 2; nitric oxide
                     synthase 3-overlapping antisense gene protein; ATG9
                     autophagy related 9 homolog B"
                     /codon_start=1
                     /product="autophagy-related protein 9B"
                     /protein_id="NP_001303985.1"
                     /db_xref="CCDS:CCDS83242.1"
                     /db_xref="GeneID:285973"
                     /db_xref="HGNC:HGNC:21899"
                     /db_xref="MIM:612205"
                     /translation="MVSRMGWGGRRRRLGRWGDLGPGSVPLLPMPLPPPPPPSCRGPG
                     GGRISIFSLSPAPHTRSSPSSFSPPTAGPPCSVLQGTGASQSCHSALPIPATPPTQAQ
                     PAMTPASASPSWGSHSTPPLAPATPTPSQQCPQDSPGLRVGPLIPEQDYERLEDCDPE
                     GSQDSPIHGEEQQPLLHVPEGLRGSWHHIQNLDSFFTKIYSYHQRNGFACILLEDVFQ
                     LGQFIFIVTFTTFLLRCVDYNVLFANQPSNHTRPGPFHSKVTLSDAILPSAQCAERIR
                     SSPLLVLLLVLAAGFWLVQLLRSVCNLFSYWDIQVFYREALHIPPEELSSVPWAEVQS
                     RLLALQRSGGLCVQPRPLTELDIHHRILRYTNYQVALANKGLLPARCPLPWGGSAAFL
                     SRGLALNVDLLLFRGPFSLFRGGWELPHAYKRSDQRGALAARWGRTVLLLAALNLALS
                     PLVLAWQVLHVFYSHVELLRREPGALGARGWSRLARLQLRHFNELPHELRARLARAYR
                     PAAAFLRTAAPPAPLRTLLARQLVFFAGALFAALLVLTVYDEDVLAVEHVLTAMTALG
                     VTATVARSFIPEEQCQGRAPQLLLQTALAHMHYLPEEPGPGGRDRAYRQMAQLLQYRA
                     VSLLEELLSPLLTPLFLLFWFRPRALEIIDFFHHFTVDVAGVGDICSFALMDVKRHGH
                     PQWLSAGQTEASLSQRAEDGKTELSLMRFSLAHPLWRPPGHSSKFLGHLWGRVQQDAA
                     AWGATSARGPSTPGVLSNCTSPLPEAFLANLFVHPLLPPRDLSPTAPCPAAATASLLA
                     SISRIAQDPSSVSPGGTGGQKLAQLPELASAEMSLHVIYLHQLHQQQQQQEPWGEAAA
                     SILSRPCSSPSQPPSPDEEKPSWSSDGSSPASSPRQQWGTQKARNLFPGGFQVTTDTQ
                     KEPDRASCTD"
     exon            622..665
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            666..730
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            731..892
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1034
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1789
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            1790..1943
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            1944..2123
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            2124..2360
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            2361..2494
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            2495..2591
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            2592..2718
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            2719..2860
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     exon            2861..3423
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3398..3403
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /note="hexamer: AGTAAA"
     polyA_site      3423
                     /gene="ATG9B"
                     /gene_synonym="APG9L2; NOS3AS; SONE"
                     /note="major polyA site"
ORIGIN      
        1 agtgtcacag acctttgtgg aagcaacaac agctcccatc cttccaacct ttctggagaa
       61 gccgtggcct gatggtgagc cgaatgggct ggggggggag aagaaggcgg ctggggcggt
      121 ggggagatct ggggcccgga tcggtgcccc tcctccccat gccactgcca cctcctcctc
      181 ctccttcatg ccggggacct gggggaggga ggatctccat cttctctctg tcccctgccc
      241 ctcatacaag aagctccccc tcctcatttt cccctcccac cgcagggccc ccttgctcag
      301 tgctacaggg gacaggggct tctcagtctt gccacagtgc tctccctatc ccagccaccc
      361 ccccaacaca ggctcaacct gcaatgacac ctgcctctgc atctccctcc tggggatccc
      421 actccacccc acccctggcc ccggcaaccc ccactccctc acagcagtgc ccccaggact
      481 ctcctgggct gcgggtaggc cctttgatcc ctgaacagga ttatgagcgg ctggaggact
      541 gtgaccctga ggggtcccaa gactcaccca tccacgggga ggagcagcaa cccctgcttc
      601 atgtccctga agggctccga ggctcctggc atcacatcca gaacctggac agtttcttca
      661 ccaagatcta cagctaccac cagcggaatg gctttgcctg catcttgctg gaggatgtct
      721 tccagctggg acaatttatt ttcattgtca ccttcacaac cttcctcctt cgatgcgtgg
      781 attacaatgt tctctttgcc aaccaaccaa gtaaccatac cagacctggg ccgttccaca
      841 gcaaagtgac cctgtcagat gccatcctac cctcagccca gtgtgctgag aggatccgct
      901 ccagcccgct gctggtcctc ctcctggtcc tggctgccgg cttctggctg gtccaactgc
      961 ttcgctcagt ctgcaacctc ttcagctact gggacatcca ggtgttttac agggaggccc
     1021 tgcacatccc cccggaggag ctgagctcgg ttccctgggc agaggtgcag tcccgcctct
     1081 tggcactgca gcggagcggg ggcctgtgcg tgcagccgcg gcccctgacg gagctggaca
     1141 tccaccaccg catcctgcgc tacaccaact accaggtggc gctggccaac aaaggcctgc
     1201 tgccggcccg ctgcccgctg ccctggggag gcagtgcggc tttcctcagc cgcggcctgg
     1261 cgctcaatgt cgacctgctg ctcttccgcg gtcccttctc gctcttccgc gggggctggg
     1321 agctgccgca cgcctacaag cgcagcgacc agcggggcgc cctagcagcg cgctgggggc
     1381 gcacagtgct gctgctggcc gccctgaacc tggcgctgag cccgctggtg ctggcctggc
     1441 aggttctgca cgtcttctat agccacgtgg agctgctgcg gcgcgagcct ggcgcgctgg
     1501 gggcgcgcgg ctggtcccgc ctggcgcgct tgcagctgcg ccacttcaac gagctgccgc
     1561 acgagctgcg cgcgcgcctg gcccgcgcct accgccccgc cgccgccttc ctgcgcaccg
     1621 ctgcgccccc cgcgcccctg cgcacgctgc tggcccgcca gctcgttttc ttcgcgggtg
     1681 cactcttcgc cgcgctgctt gtgctcaccg tctacgacga ggacgtgcta gccgtggagc
     1741 acgtgctcac cgccatgacc gcgctcgggg tcaccgccac cgtcgccagg tctttcattc
     1801 cggaagagca gtgccagggt cgtgcgccgc agctcctgct gcagacagcc ctggcccaca
     1861 tgcactacct cccggaggag cccggccccg gcggcaggga ccgcgcctac cggcagatgg
     1921 cgcagctgct gcagtaccga gcggtctccc tcctggagga gctcctgtcc ccgctcctca
     1981 ccccgctgtt tctgcttttc tggttccgcc ctcgtgccct ggagattatc gacttttttc
     2041 atcacttcac tgtggatgtg gctggggttg gggacatctg ttcctttgcc cttatggatg
     2101 tgaagcgcca cggacaccct cagtggctct cggcgggaca gactgaggcc tcgctgtctc
     2161 agcgtgcgga ggacggcaag actgagcttt ctttgatgcg gttctccctg gcgcatccac
     2221 tctggcgccc cccagggcac agctctaagt ttcttgggca cctctggggc cgagtacaac
     2281 aagatgcagc tgcctggggt gccacctcgg ctcgcggccc ctccaccccg ggggtgctca
     2341 gcaactgcac ctcgcccctg cctgaggcct tcctggccaa cctcttcgtg caccctctcc
     2401 tgcctccgag agatctgagc ccgacagccc cctgtccagc tgcggccaca gccagcctcc
     2461 ttgcctccat ttcccgaatt gcccaggacc ccagctctgt gtccccagga ggcactgggg
     2521 gccagaagct ggcccagctc ccagaacttg cttctgccga gatgagtctc catgtcatct
     2581 acctgcacca gcttcaccag cagcagcagc agcaggagcc gtggggtgag gctgcagcct
     2641 ccatcctgtc caggccctgc tccagcccct cacagccacc ctcgcctgat gaggagaagc
     2701 catcctggtc aagtgacggc tccagtcctg cctctagccc cagacaacag tggggaaccc
     2761 agaaggcccg gaatctgttc cccggagggt ttcaggtgac cacagacacc cagaaggagc
     2821 ctgaccgggc ctcttgcact gactgagacg actcctcagg gtaccctggc ttcggcagcc
     2881 acaggagatt ggagggtgga gtagaaaaac acaaggagtc attgttagag gccccataga
     2941 tgacaggccc aggtgcttta gttgggcagg acctgggagt cagtgaggaa ctcgccccga
     3001 gaacagagaa aaggtaggca aggagaggag atgctgatgg catctggaaa caagtcttag
     3061 agatggtctg cacccagagg gaataagggg agacatcccc aactggaatg tgtcctggag
     3121 cagctgcctg ggaagaagtc ctcgagtttc ctcaaggtgg gggacagagg tcaaggatga
     3181 ggccgagcta aatggaaggg cgacagtgag gcaggtgggc tttaaggctg tggattcgtc
     3241 atgctggcgg ctgccagcag cactttcagg ttccttgggg cttgtagggg atggggactt
     3301 gtcagtggaa agacgggagg gatgatgttt ttggacttca gtacgggtgt gatgtcccag
     3361 gaagtgggtg tggctcccca tcctgtatga aataagcagt aaagcttgct catggctgtt
     3421 gca
//
