LOCUS       NM_021962               5395 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens ABR activator of RhoGEF and GTPase (ABR), transcript
            variant 1, mRNA.
ACCESSION   NM_021962
VERSION     NM_021962.5
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 5395)
  AUTHORS   Faralli,J.A., Desikan,H., Peotter,J., Kanneganti,N., Weinhaus,B.,
            Filla,M.S. and Peters,D.M.
  TITLE     Genomic/proteomic analyses of dexamethasone-treated human
            trabecular meshwork cells reveal a role for GULP1 and ABR in
            phagocytosis
  JOURNAL   Mol Vis 25, 237-254 (2019)
   PUBMED   31516309
  REMARK    GeneRIF: The knockdown of GULP1 and ABR using siRNAs decreased
            phagocytosis by 40%.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5395)
  AUTHORS   Ohgushi,M., Minaguchi,M., Eiraku,M. and Sasai,Y.
  TITLE     A RHO Small GTPase Regulator ABR Secures Mitotic Fidelity in Human
            Embryonic Stem Cells
  JOURNAL   Stem Cell Reports 9 (1), 58-66 (2017)
   PUBMED   28579391
  REMARK    GeneRIF: ABR depletion leads to G2/M accumulation in human
            embryonic stem cells. Centrosome dynamics and mitotic fidelity are
            compromised upon ABR depletion. When mitosis progresses without
            ABR, human embryonic stem cells show a high incidence of
            aneuploidy.
REFERENCE   3  (bases 1 to 5395)
  AUTHORS   Oh,D., Han,S., Seo,J., Lee,J.R., Choi,J., Groffen,J., Kim,K.,
            Cho,Y.S., Choi,H.S., Shin,H., Woo,J., Won,H., Park,S.K., Kim,S.Y.,
            Jo,J., Whitcomb,D.J., Cho,K., Kim,H., Bae,Y.C., Heisterkamp,N.,
            Choi,S.Y. and Kim,E.
  TITLE     Regulation of synaptic Rac1 activity, long-term potentiation
            maintenance, and learning and memory by BCR and ABR Rac
            GTPase-activating proteins
  JOURNAL   J Neurosci 30 (42), 14134-14144 (2010)
   PUBMED   20962234
REFERENCE   4  (bases 1 to 5395)
  AUTHORS   Cho,Y.J., Cunnick,J.M., Yi,S.J., Kaartinen,V., Groffen,J. and
            Heisterkamp,N.
  TITLE     Abr and Bcr, two homologous Rac GTPase-activating proteins, control
            multiple cellular functions of murine macrophages
  JOURNAL   Mol Cell Biol 27 (3), 899-911 (2007)
   PUBMED   17116687
REFERENCE   5  (bases 1 to 5395)
  AUTHORS   Zhang,T., Xu,Q., Chen,F.R., Han,Q.D. and Zhang,Y.Y.
  TITLE     Yeast two-hybrid screening for proteins that interact with
            alpha1-adrenergic receptors
  JOURNAL   Acta Pharmacol Sin 25 (11), 1471-1478 (2004)
   PUBMED   15525470
REFERENCE   6  (bases 1 to 5395)
  AUTHORS   Chuang,T.H., Xu,X., Kaartinen,V., Heisterkamp,N., Groffen,J. and
            Bokoch,G.M.
  TITLE     Abr and Bcr are multifunctional regulators of the Rho GTP-binding
            protein family
  JOURNAL   Proc Natl Acad Sci U S A 92 (22), 10282-10286 (1995)
   PUBMED   7479768
REFERENCE   7  (bases 1 to 5395)
  AUTHORS   McDonald,J.D., Daneshvar,L., Willert,J.R., Matsumura,K., Waldman,F.
            and Cogen,P.H.
  TITLE     Physical mapping of chromosome 17p13.3 in the region of a putative
            tumor suppressor gene important in medulloblastoma
  JOURNAL   Genomics 23 (1), 229-232 (1994)
   PUBMED   7829075
REFERENCE   8  (bases 1 to 5395)
  AUTHORS   Tan,E.C., Leung,T., Manser,E. and Lim,L.
  TITLE     The human active breakpoint cluster region-related gene encodes a
            brain protein with homology to guanine nucleotide exchange proteins
            and GTPase-activating proteins
  JOURNAL   J Biol Chem 268 (36), 27291-27298 (1993)
   PUBMED   8262969
REFERENCE   9  (bases 1 to 5395)
  AUTHORS   Heisterkamp,N., Kaartinen,V., van Soest,S., Bokoch,G.M. and
            Groffen,J.
  TITLE     Human ABR encodes a protein with GAPrac activity and homology to
            the DBL nucleotide exchange factor domain
  JOURNAL   J Biol Chem 268 (23), 16903-16906 (1993)
   PUBMED   8349582
REFERENCE   10 (bases 1 to 5395)
  AUTHORS   Heisterkamp,N., Morris,C. and Groffen,J.
  TITLE     ABR, an active BCR-related gene
  JOURNAL   Nucleic Acids Res 17 (21), 8821-8831 (1989)
   PUBMED   2587217
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016292.26, HY133863.1,
            HY115199.1, DR003682.1, U01147.1, AK302682.1, DA327723.1,
            AK124547.1, AK126882.1, AC015884.15, AK127851.1 and AL135250.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_021962.4.
            
            Summary: This gene encodes a protein that is similar to the protein
            encoded by the breakpoint cluster region gene located on chromosome
            22. The protein encoded by this gene contains a GTPase-activating
            protein domain, a domain found in members of the Rho family of
            GTP-binding proteins. Functional studies in mice determined that
            this protein plays a role in vestibular morphogenesis.
            Alternatively spliced transcript variants have been reported for
            this gene. [provided by RefSeq, Feb 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 :: U01147.1, AK302682.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302538.10/ ENSP00000303909.5
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AC016292.26        41536-41542
            8-87                HY133863.1         1-80
            88-109              HY115199.1         53-74
            110-192             DR003682.1         9-91
            193-193             AC016292.26        41728-41728
            194-452             U01147.1           50-308
            453-1339            AK302682.1         187-1073
            1340-1340           DA327723.1         316-316
            1341-2649           AK302682.1         1075-2383
            2650-2650           AK124547.1         2858-2858
            2651-3153           AK302682.1         2385-2887
            3154-3358           AK124547.1         3362-3566
            3359-3624           AK126882.1         2251-2516
            3625-3625           AC015884.15        54785-54785         c
            3626-4838           AK126882.1         2518-3730
            4839-4839           AK127851.1         3228-3228
            4840-5395           AL135250.1         8-563               c
FEATURES             Location/Qualifiers
     source          1..5395
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..5395
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /note="ABR activator of RhoGEF and GTPase"
                     /db_xref="GeneID:29"
                     /db_xref="HGNC:HGNC:81"
                     /db_xref="MIM:600365"
     exon            1..315
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     CDS             255..2834
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /note="isoform a is encoded by transcript variant 1;
                     active breakpoint cluster region-related protein; ABR,
                     RhoGEF and GTPase activating protein; active BCR-related"
                     /codon_start=1
                     /product="active breakpoint cluster region-related protein
                     isoform a"
                     /protein_id="NP_068781.2"
                     /db_xref="CCDS:CCDS10999.1"
                     /db_xref="GeneID:29"
                     /db_xref="HGNC:HGNC:81"
                     /db_xref="MIM:600365"
                     /translation="MEPLSHRGLPRLSWIDTLYSNFSYGTDEYDGEGNEEQKGPPEGS
                     ETMPYIDESPTMSPQLSARSQGGGDGVSPTPPEGLAPGVEAGKGLEMRKLVLSGFLAS
                     EEIYINQLEALLLPMKPLKATATTSQPVLTIQQIETIFYKIQDIYEIHKEFYDNLCPK
                     VQQWDSQVTMGHLFQKLASQLGVYKAFVDNYKVALETAEKCSQSNNQFQKISEELKVK
                     GPKDSKDSHTSVTMEALLYKPIDRVTRSTLVLHDLLKHTPVDHPDYPLLQDALRISQN
                     FLSSINEDIDPRRTAVTTPKGETRQLVKDGFLVEVSESSRKLRHVFLFTDVLLCAKLK
                     KTSAGKHQQYDCKWYIPLADLVFPSPEESEASPQVHPFPDHELEDMKMKISALKSEIQ
                     KEKANKGQSRAIERLKKKMFENEFLLLLNSPTIPFRIHNRNGKSYLFLLSSDYERSEW
                     REAIQKLQKKDLQAFVLSSVELQVLTGSCFKLRTVHNIPVTSNKDDDESPGLYGFLHV
                     IVHSAKGFKQSANLYCTLEVDSFGYFVSKAKTRVFRDTAEPKWDEEFEIELEGSQSLR
                     ILCYEKCYDKTKVNKDNNEIVDKIMGKGQIQLDPQTVETKNWHTDVIEMNGIKVEFSM
                     KFTSRDMSLKRTPSKKQTGVFGVKISVVTKRERSKVPYIVRQCVEEVEKRGIEEVGIY
                     RISGVATDIQALKAVFDANNKDILLMLSDMDINAIAGTLKLYFRELPEPLLTDRLYPA
                     FMEGIALSDPAAKENCMMHLLRSLPDPNLITFLFLLEHLKRVAEKEPINKMSLHNLAT
                     VFGPTLLRPSEVESKAHLTSAADIWSHDVMAQVQVLLYYLQHPPISFAELKRNTLYFS
                     TDV"
     exon            316..500
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            501..599
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            600..785
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            786..893
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            894..954
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1007
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1148
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1270
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1436
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..1559
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..1635
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1740
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            1741..1815
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..1913
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            1914..2045
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2105
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            2106..2215
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            2216..2355
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            2356..2490
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            2491..2596
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            2597..2744
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     exon            2745..5395
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5357..5362
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /note="hexamer: AATAAA"
     polyA_site      5395
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /note="major polyA site"
ORIGIN      
        1 gctcatcggt tccgggatcc gcagctgggc tcggcgcggc cgctggggcc gggagggttc
       61 gggagggttt tgggggctcc cgccccgccc tcgcccctgc cccggccgcc ccgcgctcct
      121 cccggggacc tggttcccgg cctcctcgcc cctccgcgct cgcaacttcg gcctcccccg
      181 gctcccgccc gctctccctc ctttgttgcg cgatgagggt cgggtttcgg atctgaccga
      241 gccgccgccg cgggatggag ccgctcagcc accggggcct gccgcgcctg tcctggatcg
      301 acaccctcta cagcaacttc agctacggga cggacgagta cgacggagag gggaatgagg
      361 agcagaaggg gcccccggag ggctcagaga ccatgccgta catcgatgag tcgcccacca
      421 tgtccccgca gctcagcgcc cgcagccagg gcggggggga tggcgtctcc ccgactccac
      481 ctgagggact ggctcctggg gtggaagcag ggaaaggcct ggagatgagg aagctggttc
      541 tctcggggtt cttggccagc gaagagatct acattaacca gctggaagcc ctgttgctgc
      601 ccatgaaacc cctgaaggcc accgccacca cctcccagcc cgtgctcacc atccagcaga
      661 tcgagaccat cttctacaag atccaggaca tctatgagat ccacaaggag ttctatgaca
      721 acctgtgccc caaggtgcaa cagtgggaca gccaggtcac catgggccac ctcttccaga
      781 agctggccag ccagctcggt gtgtacaaag cgtttgtcga taactataaa gtcgctctgg
      841 agacagctga gaagtgcagc cagtccaaca accagttcca gaagatctca gaggaactca
      901 aagtgaaagg tcccaaggac tccaaggaca gccacacgtc tgtcaccatg gaagctctgc
      961 tctacaagcc cattgaccgg gtcactcgga gcaccctagt cctacacgac ctgctgaagc
     1021 acacacctgt ggaccacccc gactacccgc tgctgcagga tgccctccgc atctcccaga
     1081 acttcctgtc cagcatcaac gaggacatcg acccccgccg gactgcagtg acaacgccca
     1141 agggggagac gcgacagctg gtgaaggacg gcttcctggt ggaagtgtca gagagctccc
     1201 ggaagctgcg gcacgtcttc ctctttacag atgtcctact gtgtgccaag ctgaagaaga
     1261 cctctgcagg gaagcaccag cagtatgact gtaagtggta catccccctg gccgacctgg
     1321 tgtttccatc ccccgaggag tctgaggcca gcccccaggt gcaccccttc ccagaccatg
     1381 agctggagga catgaagatg aagatctctg ccctcaagag tgaaatccag aaggagaaag
     1441 ccaacaaagg ccagagccgg gccatcgagc gcctgaagaa gaagatgttt gagaatgagt
     1501 tcctgctgct gctcaactcc cccacaatcc cgttcaggat ccacaatcgg aatggaaaga
     1561 gttacctgtt cctactgtcc tcggactacg agaggtcaga gtggagagaa gcaattcaga
     1621 aactacagaa gaaggatctc caggcctttg tcctgagctc agtggagctc caggtgctca
     1681 caggatcctg tttcaagctt aggactgtac acaacattcc tgtcaccagc aataaagacg
     1741 acgatgagtc tccaggactc tatggcttcc ttcatgtcat cgtccactct gccaagggat
     1801 ttaagcaatc agccaacctg tactgtaccc tggaggtgga ttccttcggc tattttgtca
     1861 gcaaagccaa aaccagggtg ttccgggaca cagcggagcc caagtgggat gaggagtttg
     1921 agatcgagct ggagggctcc cagtccctga ggatcctgtg ctatgagaag tgctatgaca
     1981 agaccaaggt caacaaggac aacaatgaga tcgtggacaa gatcatgggc aaaggacaga
     2041 tccagctgga cccacaaacc gtggagacca agaactggca cacggacgtg attgagatga
     2101 acgggatcaa agtggaattt tccatgaaat tcaccagccg agatatgagc ctgaagagga
     2161 ccccgtccaa aaagcagacc ggcgtcttcg gtgtgaagat cagcgtggtg acgaagcggg
     2221 agcgctccaa ggtgccctac atcgtccggc agtgtgtgga ggaggtggag aagaggggta
     2281 tcgaggaggt tggcatctac aggatatcgg gcgtggccac ggacatccag gcgctcaagg
     2341 ccgtcttcga tgccaataac aaggacatcc tgctgatgct gagtgacatg gacatcaacg
     2401 ccatcgccgg gacgctcaag ctgtacttcc gggaactgcc cgagccgctc ctcacggacc
     2461 gactctaccc agccttcatg gagggcatcg ccctgtcaga ccctgctgcc aaggaaaact
     2521 gcatgatgca cctgctccgc tccctgcccg accccaacct catcaccttc ctcttcctgc
     2581 tggaacactt gaaaagggtt gccgagaagg agcccatcaa caaaatgtca cttcacaacc
     2641 tggctaccgt gtttggaccc acgttactga gaccctcaga agtggagagc aaagcacacc
     2701 tcacctcggc tgcggacatc tggtcccatg acgtcatggc gcaggtccag gtcctcctct
     2761 actacctgca gcaccccccc atttccttcg cagaactcaa gcggaacaca ctgtacttct
     2821 ccaccgacgt gtagcccgag gcagggtggc tgcgggcggg tggtggaacc agcccctcca
     2881 gcctggggtc caactcagac ttgaaagact gcaatagaaa actcccaaac ccagcactcc
     2941 agactcgagg gaagccagct tccaagaact ggaatgcgta cgtcttttgt gccaccttgt
     3001 acaaagccgg ctgcccagcc ccagcctcac caccgcatcc cacctcctgc cctccatacc
     3061 tctagttgtg tctgatgctc cgtgctgttc gggaattgtt ttatgtacac ttgtcaggca
     3121 gaaaaggtag tgaccggccc ggcgtgggca cacagacagc ccgctttgtt ctttcatttc
     3181 ctccagcact ttctttccgc ctgagtccag cccaaggcct tttattttgc gctgtgtaac
     3241 tgctgccagc ttctctcttg gccctgctcc cagatggcgg tctcctggca gcctcccctc
     3301 agtcttcctc cacccgctct tccttcccag cctgcctgca tgcatgtgca cccttggtct
     3361 tcgctccatc gccttgaaag ctctgaagag gccctgggtt gccgcggcag cagtggtctg
     3421 tttgatgctg ccgtttgccg ctgccggccc ctcctcagac tccgcctttg ggagcacacc
     3481 tgctttgcct tgctgcctgt gcaaatgttg gacaagcaga cacactcaca ctcgtcccca
     3541 gcttagcaca gagctggagc gcccatttct ggaattttcc gtttgggaat ctccacttct
     3601 ggggtttacc tgttcggcct cctgtctatc agtgaggcat ctctgactgt ttcttctact
     3661 gcttttcagt tcccttccct gctgttctat ttcctttgag tgtaaagact cacaggtgac
     3721 ctgctatcga gatagccaga gggtcaggag agaatggggg aggaggcggt caggctgctg
     3781 aggaaacacc acaggctgaa cgggggagga atgcacatgc cacgctgggt gtcccgggtc
     3841 gcggggaggc agctcagctc ttaggagcaa gttgtggggg cttttcaaga ggggccaggc
     3901 ttcctggagg gtgactgatg tggccgaagc aggtgtccag gcaggtaggc tgcagccagg
     3961 agctccctgg caccgcagga cctcgtggta ctcttgcctt agattttaca cacactccac
     4021 agccaagcac tgccacggtc ctccaggacc tgggaagcaa aggcacaggc ccacggtggc
     4081 cagccattgt ggtgccgccc cagcttctgg atacagcctt ttgggtaaac actgggaact
     4141 ccagaagttg tggggagagt ggggaatcag acagccgcct ctaggggctg ggttctgctg
     4201 gggcctcctt gttggtgctg taggcacccg ccagggagca gggacccgac ttgcagacgc
     4261 attgcccggt actaggaagg agtgaggtgt gttcccaccg tacacttccc acacgagctg
     4321 cggctgccag cctcgggcca tcagcctagg agagcagatg cagctccagg ggctcgactt
     4381 atagccagtt acagctcccc ggctcttctg tgtggcagag cgtcgtttcc gggccctcag
     4441 ggctggggag ctcagttccc attgcttgtg ctcagggctg agtcttaaag aagggtttgc
     4501 cggccctaac gctgcagcgc gtgcgcggtg agaggccctt tttgagcctg tttactcctg
     4561 tggccttggg cagaacagta aatactctgt gcacggagga aagacatgcc caagaggaag
     4621 gaagtactga ccatcggctg cctgtgagca gcttagcaag gagcccttgc tccctgggaa
     4681 aggcggtgaa cttgagtcta aagatgcagt gcctggccct tcctaaggtc cctgcctggc
     4741 atccgagtgt cggtgtgtgg cacagaaggc tcctgcttgc ttccaaagtg atggacagga
     4801 aggggcagag tgagtcacgg cccagactgg gcaccttcgc gtctcagcct cagggagccc
     4861 cacagcccca agctcgctga ggcaacgtga gaacaggcta tgggaaggct gcaaaggctg
     4921 agaaatgcaa aggctcatat ttataaatcc cacccccaga gtggggaggg tcaggtgcca
     4981 gacctggact aaactgcacc aaggaaacac ccagcagggt ctcctgtgag ccggggacca
     5041 tgcagcccga aacctccagt cactgcgccc ggcaggagtc aggagccagg gactgtgcag
     5101 cctggaacct ccagtcactg tgcccagcag ggtgggctgt gcccagcagg agtcaggcta
     5161 agaaacgcca ggtctgcctg ttcttgctgg gcaatggctg atggctgcca gtttctgctg
     5221 atacacaggt aggatgggac ccttcatgaa tatctgactt taataagttg gtaaggatat
     5281 atttttttgt ctatgttctg tttcaactta tgtagattat tataaattga tgtaaaccac
     5341 gtgagaggaa aatgttaata aaaaatgcaa agccccatca tttgcacaaa actca
//
