LOCUS       NM_144967               2985 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens Rho GTPase activating protein 36 (ARHGAP36),
            transcript variant 1, mRNA.
ACCESSION   NM_144967
VERSION     NM_144967.4
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 2985)
  AUTHORS   Melo,U.S., Jatzlau,J., Prada-Medina,C.A., Flex,E., Hartmann,S.,
            Ali,S., Schopflin,R., Bernardini,L., Ciolfi,A., Moeinzadeh,M.H.,
            Klever,M.K., Altay,A., Vallecillo-Garcia,P., Carpentieri,G.,
            Delledonne,M., Ort,M.J., Schwestka,M., Ferrero,G.B., Tartaglia,M.,
            Brusco,A., Gossen,M., Strunk,D., Geissler,S., Mundlos,S.,
            Stricker,S., Knaus,P., Giorgio,E. and Spielmann,M.
  TITLE     Enhancer hijacking at the ARHGAP36 locus is associated with
            connective tissue to bone transformation
  JOURNAL   Nat Commun 14 (1), 2034 (2023)
   PUBMED   37041138
  REMARK    Erratum:[Nat Commun. 2023 Oct 9;14(1):6301. doi:
            10.1038/s41467-023-42123-7.. PMID: 37813867]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2985)
  AUTHORS   Nano,P.R., Johnson,T.K., Kudo,T., Mooney,N.A., Ni,J., Demeter,J.,
            Jackson,P.K. and Chen,J.K.
  TITLE     Structure-activity mapping of ARHGAP36 reveals regulatory roles for
            its GAP homology and C-terminal domains
  JOURNAL   PLoS One 16 (5), e0251684 (2021)
   PUBMED   33999959
  REMARK    GeneRIF: Structure-activity mapping of ARHGAP36 reveals regulatory
            roles for its GAP homology and C-terminal domains.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2985)
  AUTHORS   Eccles,R.L., Czajkowski,M.T., Barth,C., Muller,P.M., McShane,E.,
            Grunwald,S., Beaudette,P., Mecklenburg,N., Volkmer,R., Zuhlke,K.,
            Dittmar,G., Selbach,M., Hammes,A., Daumke,O., Klussmann,E., Urbe,S.
            and Rocks,O.
  TITLE     Bimodal antagonism of PKA signalling by ARHGAP36
  JOURNAL   Nat Commun 7, 12963 (2016)
   PUBMED   27713425
  REMARK    GeneRIF: PKA inhibition by ARHGAP36 promotes derepression of the
            Hedgehog signalling pathway, thereby providing a simple rationale
            for the upregulation of ARHGAP36 in medulloblastoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2985)
  AUTHORS   Croise,P., Houy,S., Gand,M., Lanoix,J., Calco,V., Toth,P.,
            Brunaud,L., Lomazzi,S., Paramithiotis,E., Chelsky,D., Ory,S. and
            Gasman,S.
  TITLE     Cdc42 and Rac1 activity is reduced in human pheochromocytoma and
            correlates with FARP1 and ARHGEF1 expression
  JOURNAL   Endocr Relat Cancer 23 (4), 281-293 (2016)
   PUBMED   26911374
  REMARK    GeneRIF: We have reported here for the first time a reduced
            activity of both Rac1 and Cdc42 in human pheochromocytoma resection
            as well as tumor-associated expression changes of FARP1, ARHGEF1,
            and ARHGAP36
REFERENCE   5  (bases 1 to 2985)
  AUTHORS   Rack,P.G., Ni,J., Payumo,A.Y., Nguyen,V., Crapster,J.A.,
            Hovestadt,V., Kool,M., Jones,D.T., Mich,J.K., Firestone,A.J.,
            Pfister,S.M., Cho,Y.J. and Chen,J.K.
  TITLE     Arhgap36-dependent activation of Gli transcription factors
  JOURNAL   Proc Natl Acad Sci U S A 111 (30), 11061-11066 (2014)
   PUBMED   25024229
  REMARK    GeneRIF: a new mechanism of Gli transcription factor activation and
            implicate ARHGAP36 dysregulation in the onset and/or progression of
            GLI-dependent cancers.
            GeneRIF: ARHGAP36 isoforms capable of Gli activation are
            up-regulated in a subset of human medulloblastomas.
REFERENCE   6  (bases 1 to 2985)
  AUTHORS   Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
            Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
            Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
            Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
            Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
            Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
            Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
            Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
            Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
            Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
            Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
            Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
            Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
            Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
            Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
            Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
            Conquer,J.S., Corby,N., Connor,R.E., David,R., Davies,J., Davis,C.,
            Davis,J., Delgado,O., Deshazo,D., Dhami,P., Ding,Y., Dinh,H.,
            Dodsworth,S., Draper,H., Dugan-Rocha,S., Dunham,A., Dunn,M.,
            Durbin,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
            Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
            Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
            Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
            Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
            Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
            Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
            Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
            Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
            Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
            Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
            Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
            Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
            McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
            Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
            Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
            Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
            Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
            Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
            Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
            Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
            Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
            Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
            Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
            Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
            Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
            West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
            Willey,D.L., Williams,G., Williams,L., Williamson,A.,
            Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
            Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
            Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
            Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
            Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
            Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
            Bentley,D.R.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK128203.1, BC063790.1, CD107623.1 and AL590131.8.
            
            On Nov 22, 2018 this sequence version replaced NM_144967.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK128203.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000276211.10/ ENSP00000276211.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-471               AK128203.1         105-575
            472-2246            BC063790.1         175-1949
            2247-2890           CD107623.1         98-741
            2891-2983           BC063790.1         2594-2686
            2984-2985           AL590131.8         66329-66330
FEATURES             Location/Qualifiers
     source          1..2985
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.1"
     gene            1..2985
                     /gene="ARHGAP36"
                     /note="Rho GTPase activating protein 36"
                     /db_xref="GeneID:158763"
                     /db_xref="HGNC:HGNC:26388"
                     /db_xref="MIM:300937"
     exon            1..99
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            100..494
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     CDS             242..1885
                     /gene="ARHGAP36"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; rho GTPase-activating protein 36"
                     /codon_start=1
                     /product="rho GTPase-activating protein 36 isoform 1
                     precursor"
                     /protein_id="NP_659404.2"
                     /db_xref="CCDS:CCDS14628.1"
                     /db_xref="GeneID:158763"
                     /db_xref="HGNC:HGNC:26388"
                     /db_xref="MIM:300937"
                     /translation="MGGCIPFLKAARALCPRIMPPLLLLSAFIFLVSVLGGAPGHNPD
                     RRTKMVSIHSLSELERLKLQETAYHELVARHFLSEFKPDRALPIDRPNTLDKWFLILR
                     GQQRAVSHKTFGISLEEVLVNEFTRRKHLELTATMQVEEATGQAAGRRRGNVVRRVFG
                     RIRRFFSRRRNEPTLPREFTRRGRRGAVSVDSLAELEDGALLLQTLQLSKISFPIGQR
                     LLGSKRKMSLNPIAKQIPQVVEACCQFIEKHGLSAVGIFTLEYSVQRVRQLREEFDQG
                     LDVVLDDNQNVHDVAALLKEFFRDMKDSLLPDDLYMSFLLTATLKPQDQLSALQLLVY
                     LMPPCHSDTLERLLKALHKITENCEDSIGIDGQLVPGNRMTSTNLALVFGSALLKKGK
                     FGKRESRKTKLGIDHYVASVNVVRAMIDNWDVLFQVPPHIQRQVAKRVWKSSPEALDF
                     IRRRNLRKIQSARIKMEEDALLSDPVETSAEARAAVLAQSKPSDEGSSEEPAVPSGTA
                     RSHDDEEGAGNPPIPEQDRPLLRVPREKEAKTGVSYFFP"
     exon            495..560
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            561..796
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            797..989
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1045
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1196
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1345
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1522
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1620
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1621..1727
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1728..2985
                     /gene="ARHGAP36"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2956..2961
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP36"
                     /note="hexamer: AATAAA"
     polyA_site      2985
                     /gene="ARHGAP36"
                     /note="major polyA site"
ORIGIN      
        1 gcaaaggtta actgcgagct gccgggcact cagcgcgggt catggcgtgg atactggact
       61 gccttttcgc ctcggccttt gagccccgcc cccgccgtgc aaaaacaacc agaggctgct
      121 ctgcttgagg gtgaagccgc ctcccagttt tccctccccc tctaccccca cccccatagt
      181 tctctccacc aggtccagtg acaattggat gatgcagcct tgataatcat ccgattccag
      241 aatgggtggc tgcattcctt ttctgaaggc agcaagggca ctgtgcccca gaatcatgcc
      301 ccctttgctg ttgttgtccg ccttcatttt tttagtgagt gtcttgggag gagccccagg
      361 acacaacccc gaccgcagga cgaagatggt atcgatacac agcctctctg agctggagcg
      421 tctgaagctg caagagactg cttaccacga actcgtggcc agacatttcc tctccgaatt
      481 caaacctgac agagctctgc ctattgaccg tccgaacacc ttggataagt ggtttctgat
      541 tttgagagga cagcagaggg ctgtatcaca caagacattt ggcattagcc tggaagaggt
      601 cctggtgaac gagtttaccc gccgcaagca tcttgaactg acagccacga tgcaggttga
      661 agaagccacc ggtcaggctg cgggccgtcg tcggggaaac gtggtgcgaa gggtgtttgg
      721 ccgcatccgg cgctttttca gtcgcaggcg gaatgagccc accttgcccc gggagttcac
      781 tcgccgtggg cgtcgaggtg cagtgtctgt ggatagtctg gctgagctgg aagacggagc
      841 cctgctgctg cagaccctgc agctttcaaa aatttccttt ccaattggcc aacgacttct
      901 gggatccaaa aggaagatga gtctcaatcc gattgcgaaa caaatccccc aggttgttga
      961 ggcttgctgc caattcattg aaaaacatgg cttaagcgca gtggggattt ttacccttga
     1021 atactccgtg cagcgagtgc gtcagctccg tgaagaattt gatcaaggtc tggatgtagt
     1081 gctggatgac aatcagaatg tgcatgatgt ggctgcactc ctcaaggagt ttttccgtga
     1141 catgaaggat tctctgctgc cagatgatct gtacatgtca ttcctcctga cagcaacttt
     1201 aaagccccag gatcagcttt ctgccctgca gttgctggtc tacctgatgc caccctgcca
     1261 cagtgatacc ctggagcgtc tgctgaaggc cctgcataaa atcactgaga actgcgagga
     1321 ctcaattggc attgatggac agttggtccc aggcaaccgt atgacttcca ctaacttggc
     1381 cttggtgttt ggatctgctc tcctgaaaaa aggaaagttt ggcaagagag agtccaggaa
     1441 aacaaagctg gggattgatc actatgttgc ttctgtcaat gtggtccgtg ccatgattga
     1501 taactgggat gtcctcttcc aggtgcctcc ccatattcag aggcaggttg ctaagcgcgt
     1561 gtggaagtcc agcccggaag cacttgattt tatcagacgc aggaacttga ggaagatcca
     1621 gagtgcacgc ataaagatgg aagaggatgc actactttct gatccagtgg aaacctctgc
     1681 tgaagcccgg gctgctgtcc ttgctcaaag caagccttct gatgaaggtt cctctgagga
     1741 gccagctgtg ccttccggca ctgcccgttc ccatgacgat gaggaaggag cgggtaaccc
     1801 tcccattccg gagcaagacc gcccattgct ccgtgtgccc cgggagaagg aggccaaaac
     1861 tggcgtcagc tacttctttc cttagatgtt tttccttcta taaggtgcca gacaggggaa
     1921 aagggtgggg gtacatctgg gatgtcacag gaaacattaa ggagagagtt gaaggtaaag
     1981 atctgaaggt aagaaggagt tccacctgat gctcgggtca ggatgagaat tccaaacaca
     2041 ctgccagccc cttcactggg gatgcttggt ctcttctgct ggtaaaagca gagatgtttc
     2101 tgtgtcatgc ccaagctccc cggtgctacc ttgcctttct cttttacccc tgatcttggc
     2161 tttctctctc tctctgcaga ctttccttta attgatgtga catttgtggt aaacaccttt
     2221 cccagggaac ctcacaaatc ttgagatgct ttcccttccc cagatgggat tgcatgattt
     2281 ccctgacttt cctaccctcc tccagagagc tcagttggaa aggccctcaa gaggcatgct
     2341 agaacgttag gtcagcctac tgacagctga caaacaatta atgcgaaatc atgtcacacc
     2401 aacccatagc cgtgtccacg cagcaactcc accaccttag gatttccccc tccaaattat
     2461 tcagaccaat ggcttgccaa atggcctctc ccaaaattct gtacagtttt gctcaggtca
     2521 cgccaacagg gaaacctcaa gtgtaggtct aattagtgtt tctgggatcc aaagttagag
     2581 gaaaatttag attttattgc ctggatctgc tttaaagaca attggtgttt acaccctctt
     2641 gtcagcaaaa cagctagtta ggtaaggaca tatagttcca agtaggtaaa gtcacttgat
     2701 tacaaatgtt cttaactatc gtctctgtaa ttcctttata caggacagta caaaattgtg
     2761 ggacatgctc tggtaacaca cagatatggg ttgcatatga tccagaatta cagctgatat
     2821 tatggatgac aactgctaag gtccataaaa tgaagactgt attgtattga gggatagaaa
     2881 ttgatcattt aatgggtaac aactgctgag ctcaaagatt tgtgattgtt aaaacttctc
     2941 tggcatttaa tcattaataa acatctgtat tgtgacagca gcata
//
