LOCUS       NM_032208               5858 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens ANTXR cell adhesion molecule 1 (ANTXR1), transcript
            variant 1, mRNA.
ACCESSION   NM_032208
VERSION     NM_032208.3
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 5858)
  AUTHORS   Damagatla,M., Verma,A., Pochaboina,V., Bhate,M. and Senthil,S.
  TITLE     GAPO syndrome: a novel variant in ANTXR1 gene
  JOURNAL   Ophthalmic Genet 45 (4), 395-400 (2024)
   PUBMED   38691016
  REMARK    GeneRIF: GAPO syndrome: a novel variant in ANTXR1 gene.
REFERENCE   2  (bases 1 to 5858)
  AUTHORS   Przyklenk,M., Karmacharya,S., Bonasera,D., Pasanen-Zentz,A.L.,
            Kmoch,S., Paulsson,M., Wagener,R., Liccardi,G. and Schiavinato,A.
  TITLE     ANTXR1 deficiency promotes fibroblast senescence: implications for
            GAPO syndrome as a progeroid disorder
  JOURNAL   Sci Rep 14 (1), 9321 (2024)
   PUBMED   38653789
  REMARK    GeneRIF: ANTXR1 deficiency promotes fibroblast senescence:
            implications for GAPO syndrome as a progeroid disorder.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5858)
  AUTHORS   Falcone,M.M., Chang,Y.H., Lidov,H., Stagner,A.M. and Dagi,L.R.
  TITLE     Two siblings with GAPO syndrome: Ophthalmic presentation and
            histopathologic findings
  JOURNAL   Ophthalmic Genet 44 (6), 598-601 (2023)
   PUBMED   36748830
  REMARK    GeneRIF: Two siblings with GAPO syndrome: Ophthalmic presentation
            and histopathologic findings.
REFERENCE   4  (bases 1 to 5858)
  AUTHORS   Zhou,C., Liang,A., Zhang,J., Leng,J., Xi,B., Zhou,B., Yang,Y.,
            Zhu,R., Zhong,L., Jiang,X. and Wan,D.
  TITLE     Depleting ANTXR1 suppresses glioma growth via deactivating PI3K/AKT
            pathway
  JOURNAL   Cell Cycle 22 (19), 2097-2112 (2023)
   PUBMED   37974357
  REMARK    GeneRIF: Depleting ANTXR1 suppresses glioma growth via deactivating
            PI3K/AKT pathway.
REFERENCE   5  (bases 1 to 5858)
  AUTHORS   Jin,T., Zhang,Z., Han,Y., Li,D., Liu,J., Jiang,M., Kurita,R.,
            Nakamura,Y., Hu,F., Fang,X., Huang,S. and Sun,Z.
  TITLE     ANTXR1 Regulates Erythroid Cell Proliferation and Differentiation
            through wnt/beta-Catenin Signaling Pathway In Vitro and in
            Hematopoietic Stem Cell
  JOURNAL   Dis Markers 2022, 1226697 (2022)
   PUBMED   36065334
  REMARK    GeneRIF: ANTXR1 Regulates Erythroid Cell Proliferation and
            Differentiation through wnt/beta-Catenin Signaling Pathway In Vitro
            and in Hematopoietic Stem Cell.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5858)
  AUTHORS   Liu,X.H., Collier,R.J. and Youle,R.J.
  TITLE     Inhibition of axotomy-induced neuronal apoptosis by extracellular
            delivery of a Bcl-XL fusion protein
  JOURNAL   J Biol Chem 276 (49), 46326-46332 (2001)
   PUBMED   11574549
REFERENCE   7  (bases 1 to 5858)
  AUTHORS   Bradley,K.A., Mogridge,J., Mourez,M., Collier,R.J. and Young,J.A.
  TITLE     Identification of the cellular receptor for anthrax toxin
  JOURNAL   Nature 414 (6860), 225-229 (2001)
   PUBMED   11700562
  REMARK    GeneRIF: Here we describe the cloning of the human PA receptor
            using a genetic complementation approach
REFERENCE   8  (bases 1 to 5858)
  AUTHORS   Carson-Walter,E.B., Watkins,D.N., Nanda,A., Vogelstein,B.,
            Kinzler,K.W. and St Croix,B.
  TITLE     Cell surface tumor endothelial markers are conserved in mice and
            humans
  JOURNAL   Cancer Res 61 (18), 6649-6655 (2001)
   PUBMED   11559528
REFERENCE   9  (bases 1 to 5858)
  AUTHORS   St Croix,B., Rago,C., Velculescu,V., Traverso,G., Romans,K.E.,
            Montgomery,E., Lal,A., Riggins,G.J., Lengauer,C., Vogelstein,B. and
            Kinzler,K.W.
  TITLE     Genes expressed in human tumor endothelium
  JOURNAL   Science 289 (5482), 1197-1202 (2000)
   PUBMED   10947988
REFERENCE   10 (bases 1 to 5858)
  AUTHORS   Schmidt,D.R. and Schreiber,S.L.
  TITLE     Molecular association between ATR and two components of the
            nucleosome remodeling and deacetylating complex, HDAC2 and CHD4
  JOURNAL   Biochemistry 38 (44), 14711-14717 (1999)
   PUBMED   10545197
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC361072.1, AF279145.2,
            AK223273.1 and BU687536.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 20, 2020 this sequence version replaced NM_032208.2.
            
            Summary: This gene encodes a type I transmembrane protein and is a
            tumor-specific endothelial marker that has been implicated in
            colorectal cancer. The encoded protein has been shown to also be a
            docking protein or receptor for Bacillus anthracis toxin, the
            causative agent of the disease, anthrax. The binding of the
            protective antigen (PA) component, of the tripartite anthrax toxin,
            to this receptor protein mediates delivery of toxin components to
            the cytosol of cells. Once inside the cell, the other two
            components of anthrax toxin, edema factor (EF) and lethal factor
            (LF) disrupt normal cellular processes. Three alternatively spliced
            variants that encode different protein isoforms have been
            described. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and it encodes the longest protein (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 :: AF279145.2, SRR14038196.2205364.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303714.9/ ENSP00000301945.4
            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
            1-178               DC361072.1         59-236
            179-4752            AF279145.2         1-4574
            4753-5314           AK223273.1         1091-1652
            5315-5858           BU687536.1         17-560              c
FEATURES             Location/Qualifiers
     source          1..5858
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..5858
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /note="ANTXR cell adhesion molecule 1"
                     /db_xref="GeneID:84168"
                     /db_xref="HGNC:HGNC:21014"
                     /db_xref="MIM:606410"
     exon            1..473
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     CDS             322..2016
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 2310008J16Rik; 2810405N18Rik; tumor endothelial
                     marker 8; anthrax toxin receptor 1"
                     /codon_start=1
                     /product="anthrax toxin receptor 1 isoform 1 precursor"
                     /protein_id="NP_115584.1"
                     /db_xref="CCDS:CCDS1892.1"
                     /db_xref="GeneID:84168"
                     /db_xref="HGNC:HGNC:21014"
                     /db_xref="MIM:606410"
                     /translation="MATAERRALGIGFQWLSLATLVLICAGQGGRREDGGPACYGGFD
                     LYFILDKSGSVLHHWNEIYYFVEQLAHKFISPQLRMSFIVFSTRGTTLMKLTEDREQI
                     RQGLEELQKVLPGGDTYMHEGFERASEQIYYENRQGYRTASVIIALTDGELHEDLFFY
                     SEREANRSRDLGAIVYCVGVKDFNETQLARIADSKDHVFPVNDGFQALQGIIHSILKK
                     SCIEILAAEPSTICAGESFQVVVRGNGFRHARNVDRVLCSFKINDSVTLNEKPFSVED
                     TYLLCPAPILKEVGMKAALQVSMNDGLSFISSSVIITTTHCSDGSILAIALLILFLLL
                     ALALLWWFWPLCCTVIIKEVPPPPAEESEEEDDDGLPKKKWPTVDASYYGGRGVGGIK
                     RMEVRWGEKGSTEEGAKLEKAKNARVKMPEQEYEFPEPRNLNNNMRRPSSPRKWYSPI
                     KGKLDALWVLLRKGYDRVSVMRPQPGDTGRCINFTRVKNNQPAKYPLNNAYHTSSPPP
                     APIYTPPPPAPHCPPPPPSAPTPPIPSPPSTLPPPPQAPPPNRAPPPSRPPPRPSV"
     exon            474..545
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            546..617
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            618..699
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            700..733
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            734..813
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            814..882
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            883..963
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1024
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1123
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..1193
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..1272
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1368
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..1410
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..1506
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1674
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1675..1755
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1756..5858
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5683..5688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /note="hexamer: AATAAA"
     polyA_site      5701
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /note="major polyA site"
     regulatory      5840..5845
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /note="hexamer: AATAAA"
     polyA_site      5858
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
ORIGIN      
        1 acggaactcc ttccattgca aaagctcggc gcggcctcgg gagctgcccg gcggccccgg
       61 accgaggcag ccctcccctt taaaagaagc ggaggacagg attgggatcc ttgaaacccg
      121 aaacccagaa acagcatcgg agcggaaacc agaggggaaa ccttgaactc ctccagacaa
      181 ttgcttccgg ggagttgcga gggagcgagg gggaataaag gacccgcgag gaagggcccg
      241 cggatggcgc gtccctgagg gtcgtggcga gttcgcggag cgtgggaagg agcggaccct
      301 gctctccccg ggctgcgggc catggccacg gcggagcgga gagccctcgg catcggcttc
      361 cagtggctct ctttggccac tctggtgctc atctgcgccg ggcaaggggg acgcagggag
      421 gatgggggtc cagcctgcta cggcggattt gacctgtact tcattttgga caaatcagga
      481 agtgtgctgc accactggaa tgaaatctat tactttgtgg aacagttggc tcacaaattc
      541 atcagcccac agttgagaat gtcctttatt gttttctcca cccgaggaac aaccttaatg
      601 aaactgacag aagacagaga acaaatccgt caaggcctag aagaactcca gaaagttctg
      661 ccaggaggag acacttacat gcatgaagga tttgaaaggg ccagtgagca gatttattat
      721 gaaaacagac aagggtacag gacagccagc gtcatcattg ctttgactga tggagaactc
      781 catgaagatc tctttttcta ttcagagagg gaggctaata ggtctcgaga tcttggtgca
      841 attgtttact gtgttggtgt gaaagatttc aatgagacac agctggcccg gattgcggac
      901 agtaaggatc atgtgtttcc cgtgaatgac ggctttcagg ctctgcaagg catcatccac
      961 tcaattttga agaagtcctg catcgaaatt ctagcagctg aaccatccac catatgtgca
     1021 ggagagtcat ttcaagttgt cgtgagagga aacggcttcc gacatgcccg caacgtggac
     1081 agggtcctct gcagcttcaa gatcaatgac tcggtcacac tcaatgagaa gcccttttct
     1141 gtggaagata cttatttact gtgtccagcg cctatcttaa aagaagttgg catgaaagct
     1201 gcactccagg tcagcatgaa cgatggcctc tcttttatct ccagttctgt catcatcacc
     1261 accacacact gttctgacgg ttccatcctg gccatcgccc tgctgatcct gttcctgctc
     1321 ctagccctgg ctctcctctg gtggttctgg cccctctgct gcactgtgat tatcaaggag
     1381 gtccctccac cccctgccga ggagagtgag gaagaagatg atgatggtct gcctaagaaa
     1441 aagtggccaa cggtagacgc ctcttattat ggtgggagag gcgttggagg cattaaaaga
     1501 atggaggttc gttggggaga aaagggctcc acagaagaag gtgctaagtt ggaaaaggca
     1561 aagaatgcaa gagtcaagat gccggagcag gaatatgaat tccctgagcc gcgaaatctc
     1621 aacaacaata tgcgtcggcc ttcttccccc cggaagtggt actctccaat caagggaaaa
     1681 ctcgatgcct tgtgggtcct actgaggaaa ggatatgatc gtgtgtctgt gatgcgtcca
     1741 cagccaggag acacggggcg ctgcatcaac ttcaccaggg tcaagaacaa ccagccagcc
     1801 aagtacccac tcaacaacgc ctaccacacc tcctcgccgc ctcctgcccc catctacact
     1861 cccccacctc ctgcgcccca ctgccctccc ccgcccccca gcgcccctac ccctcccatc
     1921 ccgtccccac cttccaccct tccccctcct ccccaggctc cacctcccaa cagggcacct
     1981 cctccctccc gccctcctcc aaggccttct gtctagagcc caaagttcct gctctgggct
     2041 ctctcagaaa cttcaggaga tgttagaaca agtctttcca gttagagaag aggagtggtg
     2101 ataaagccca ctgaccttca cacattctaa aaattggttg gcaatgccag tataccaaca
     2161 atcatgatca gctgaaagaa acagatattt taaattgcca gaaaacaaat gatgaggcaa
     2221 ctacagtcag atttatagcc agccatctat cacctctaga aggttccaga gacagtgaaa
     2281 ctgcaagatg ctctcaacag gattatgtct catggagacc agtaagaaaa tcatttatct
     2341 gaaggtgaaa tgcagagttg gataagaaat acattgctgg gtttctaaaa tgctgccttc
     2401 ctgcctctac tccacctcca tccctggact ttggaccctt ggcctaggag cctaaggacc
     2461 ttcacccctg tgcaccaccc aagaaagagg aaaactttgc ctacaacttt ggaaatgctg
     2521 gggtccctgg tgtggtaaga aactcaacat cagacgggta tgcagaagga tgttcttctg
     2581 ggatttgcag gtacataaaa aatgtatggc atcttttcct tgcaaattct tccagtttcc
     2641 aagtgagaag gggagcaggt gtttactgat ggaaaaggta tgttgctatg ttgatgtgta
     2701 agtgaaatca gttgtgtgca atagacaggg gcgtattcat gggagcatca gccagtttct
     2761 aaaacccaca ggccatcagc agctagaggt ggctggcttt ggccagacat ggaccctaaa
     2821 tcaacagaca atggcattgt cgaagagcaa cctgttaatg aatcatgtta aaaatcaagg
     2881 tttggcttca gtttaaatca cttgaggtat gaagtttatc ctgttttcca gagataaaca
     2941 taagttgatc ttcccaaaat accatcatta ggacctatca cacaatatca ctagtttttt
     3001 ttgtttgttt gttttttgtt ttttttcttg gtaaagccat gcaccacaga cttctgggca
     3061 gagctgagag acaatggtcc tgacataata aggatctttg attaaccccc ataaggcatg
     3121 tgtgtgtata caaatatact tctctttggc ttttcgacat agaacctcag ctgttaacca
     3181 aggggaaata catcagatct gcaacacaga aatgctctgc ctgaaatttc caccatgcct
     3241 aggactcacc ccatttatcc aggtctttct ggatctgttt aatcaataag ccctataatc
     3301 acttgctaaa cactgggctt catcacccag ggataaaaac agagatcatt gtcttggacc
     3361 tcctgcatca gcctattcaa aattatctct ctctctagct ttccacaaat cctaaaattc
     3421 ctgtcccaag ccacccaaat tctcagatct tttctggaac aaggcagaat ataaaataaa
     3481 tatacattta gtggcttggg ctatggtctc caaagatcct tcaaaaatac atcaagccag
     3541 cttcattcac tcactttact tagaacagag atataagggc ctgggatgca tttattttat
     3601 caataccaat ttttgtggcc atggcagaca ttgctaatca atcacagcac tatttcctat
     3661 taagcccact gatttcttca caatccttct caaattacaa ttccaaagag ccgccactca
     3721 acagtcagat gaacccaaca gtcagatgag agaaatgaac cctacttgct atctctatct
     3781 tagaaagcaa aaacaaacag gagtttccag ggagaatggg aaagccaggg ggcataaaag
     3841 gtacagtcag gggaaaatag atctaggcag agtgccttag tcagggacca cgggcgctga
     3901 atctgcagtg ccaacaccaa actgacacat ctccaggtgt acctccaacc ctagccttct
     3961 cccacagctg cctacaacag agtctcccag ccttctcaga gagctaaaac cagaaatttc
     4021 cagactcatg aaagcaaccc cccagcctct ccccaaccct gccgcattgt ctaattttta
     4081 gaacactagg cttcttcttt catgtagttc ctcataagca ggggccagaa tatctcagcc
     4141 acctgcagtg acattgctgg acccctgaaa accattccat aggagaatgg gttccccagg
     4201 ctcacagtgt agagacattg agcccatcac aactgttttg actgctggca gtctaaaaca
     4261 gtccacccac cccatggcac tgccgcgtga ttcccgcggc cattcagaag ttcaagccga
     4321 gatgctgacg ttgctgagca acgagatggt gagcatcagt gcaaatgcac cattcagcac
     4381 atcagtcata tgcccagtgc agttacaaga tgttgtttcg gcaaagcatt ttgatggaat
     4441 agggaactgc aaatgtatga tgattttgaa aaggctcagc aggatttgtt cttaaaccga
     4501 ctcagtgtgt catccccggt tatttagaat tacagttaag aaggagaaac ttctataaga
     4561 ctgtatgaac aaggtgatat cttcatagtg ggctattaca ggcaggaaaa tgttttaact
     4621 ggtttacaaa atccatcaat acttgtgtca ttccctgtaa aaggcaggag acatgtgatt
     4681 atgatcagga aactgcacaa aattattgtt ttcagccccc gtgttattgt ccttttgaac
     4741 tgtttttttt tttattaaag ccaaatttgt gttgtatata ttcgtattcc atgtgttaga
     4801 tggaagcatt tcctatccag tgtgaataaa aagaacagtt gtagtaaatt attataaagc
     4861 cgatgatatt tcatggcagg ttattctacc aagctgtgct tgttggtttt tcccatgact
     4921 gtattgcttt tataaatgta caaatagtta ctgaaatgac gagacccttg tttgcacagc
     4981 attaataaga accttgataa gaaccatatt ctgttgacag ccagctcaca gtttcttgcc
     5041 tgaagcttgg tgcaccctcc agtgagacac aagatctctc ttttaccaaa gttgagaaca
     5101 gagctggtgg attaattaat agtcttcgat atctggccat gggtaacctc attgtaacta
     5161 tcatcagaat gggcagagat gatcttgaag tgtcacatac actaaagtcc aaacactatg
     5221 tcagatgggg gtaaaatcca ttaaagaaca ggaaaaaata attataagat gataagcaaa
     5281 tgtttcagcc caatgtcaac ccagttaaaa aaaaaattaa tgctgtgtaa aatggttgaa
     5341 ttagtttgca aactatataa agacatatgc agtaaaaagt ctgttaatgc acatcctgtg
     5401 ggaatggagt gttctaacca attgcctttt cttgttatct gagctctcct atattatcat
     5461 actcagataa ccaaattaaa agaattagaa tatgattttt aatacactta acattaaact
     5521 cttctaactt tcttctttct gtgataattc agaagatagt tatggatctt caatgcctct
     5581 gagtcattgt tataaaaaat cagttatcac tataccatgc tataggagac tgggcaaaac
     5641 ctgtacaatg acaaccctgg aagttgcttt ttttaaaaaa ataataaatt tcttaaatca
     5701 actctttttt ctggttgtct gtttgttata aagtgcaacg tattcaagtc ctcaatatcc
     5761 tgatcataat accatgctat aggagactgg gcaaaacctg tacaatgaca accctggaag
     5821 ttgctttttt aaaaaaaata ataaatttct taaatcaa
//
