LOCUS       NM_001822               3156 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens chimerin 1 (CHN1), transcript variant 1, mRNA.
ACCESSION   NM_001822
VERSION     NM_001822.7
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 3156)
  AUTHORS   Wang,M., Liu,J., Pang,H. and Bu,J.
  TITLE     Special clinical features with a novel mutation site of CHN1 gene
            in a Chinese family with Duane retraction syndrome
  JOURNAL   Strabismus 32 (1), 23-29 (2024)
   PUBMED   38509018
  REMARK    GeneRIF: Special clinical features with a novel mutation site of
            CHN1 gene in a Chinese family with Duane retraction syndrome.
REFERENCE   2  (bases 1 to 3156)
  AUTHORS   Li,J.P., Zeng,S.H., Zhang,Y.H. and Liu,Y.J.
  TITLE     Bioinformatics-based analysis of the association between the
            A1-chimaerin (CHN1) gene and gastric cancer
  JOURNAL   Bioengineered 12 (1), 2874-2889 (2021)
   PUBMED   34152250
  REMARK    GeneRIF: Bioinformatics-based analysis of the association between
            the A1-chimaerin (CHN1) gene and gastric cancer.
REFERENCE   3  (bases 1 to 3156)
  AUTHORS   Zhao,H., Wang,L., Wang,S., Chen,X., Liang,M., Zhang,X., Wang,J. and
            Xu,X.
  TITLE     CHN1 promotes epithelial-mesenchymal transition via the
            Akt/GSK-3beta/Snail pathway in cervical carcinoma
  JOURNAL   J Transl Med 19 (1), 295 (2021)
   PUBMED   34238315
  REMARK    GeneRIF: CHN1 promotes epithelial-mesenchymal transition via the
            Akt/GSK-3beta/Snail pathway in cervical carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3156)
  AUTHORS   Angelini,C., Trimouille,A., Arveiler,B., Espil-Taris,C.,
            Ichinose,N., Lasseaux,E., Tourdias,T. and Lacombe,D.
  TITLE     CHN1 and duane retraction syndrome: Expanding the phenotype to
            cranial nerves development disease
  JOURNAL   Eur J Med Genet 64 (4), 104188 (2021)
   PUBMED   33667650
  REMARK    GeneRIF: CHN1 and duane retraction syndrome: Expanding the
            phenotype to cranial nerves development disease.
REFERENCE   5  (bases 1 to 3156)
  AUTHORS   Dong,J.M., Smith,P., Hall,C. and Lim,L.
  TITLE     Promoter region of the transcriptional unit for human alpha
            1-chimaerin, a neuron-specific GTPase-activating protein for p21rac
  JOURNAL   Eur J Biochem 227 (3), 636-646 (1995)
   PUBMED   7867622
REFERENCE   6  (bases 1 to 3156)
  AUTHORS   Hall,C., Sin,W.C., Teo,M., Michael,G.J., Smith,P., Dong,J.M.,
            Lim,H.H., Manser,E., Spurr,N.K., Jones,T.A. et al.
  TITLE     Alpha 2-chimerin, an SH2-containing GTPase-activating protein for
            the ras-related protein p21rac derived by alternate splicing of the
            human n-chimerin gene, is selectively expressed in brain regions
            and testes
  JOURNAL   Mol Cell Biol 13 (8), 4986-4998 (1993)
   PUBMED   8336731
REFERENCE   7  (bases 1 to 3156)
  AUTHORS   Barry,B.J., Whitman,M.C., Hunter,D.G. and Engle,E.C.
  TITLE     Duane Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301369
REFERENCE   8  (bases 1 to 3156)
  AUTHORS   Lim,H.H., Michael,G.J., Smith,P., Lim,L. and Hall,C.
  TITLE     Developmental regulation and neuronal expression of the mRNA of rat
            n-chimaerin, a p21rac GAP:cDNA sequence
  JOURNAL   Biochem J 287 (Pt 2) (Pt 2), 415-422 (1992)
   PUBMED   1445199
REFERENCE   9  (bases 1 to 3156)
  AUTHORS   Ahmed,S., Kozma,R., Monfries,C., Hall,C., Lim,H.H., Smith,P. and
            Lim,L.
  TITLE     Human brain n-chimaerin cDNA encodes a novel phorbol ester receptor
  JOURNAL   Biochem J 272 (3), 767-773 (1990)
   PUBMED   2268301
REFERENCE   10 (bases 1 to 3156)
  AUTHORS   Hall,C., Monfries,C., Smith,P., Lim,H.H., Kozma,R., Ahmed,S.,
            Vanniasingham,V., Leung,T. and Lim,L.
  TITLE     Novel human brain cDNA encoding a 34,000 Mr protein n-chimaerin,
            related to both the regulatory domain of protein kinase C and BCR,
            the product of the breakpoint cluster region gene
  JOURNAL   J Mol Biol 211 (1), 11-16 (1990)
   PUBMED   2299665
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007435.12, AC020596.8 and
            AC018890.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 27, 2019 this sequence version replaced NM_001822.6.
            
            Summary: This gene encodes GTPase-activating protein for
            ras-related p21-rac and a phorbol ester receptor. It is
            predominantly expressed in neurons, and plays an important role in
            neuronal signal-transduction mechanisms. Mutations in this gene are
            associated with Duane's retraction syndrome 2 (DURS2).
            Alternatively spliced transcript variants encoding different
            isoforms have been described for this gene. [provided by RefSeq,
            Apr 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: AK289941.1, BC011393.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409900.9/ ENSP00000386741.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-488               AC007435.12        60341-60828         c
            489-527             AC020596.8         80410-80448         c
            528-583             AC020596.8         73134-73189         c
            584-615             AC020596.8         46780-46811         c
            616-729             AC020596.8         43304-43417         c
            730-1018            AC020596.8         6086-6374           c
            1019-1096           AC018890.13        147091-147168       c
            1097-1181           AC018890.13        124645-124729       c
            1182-1355           AC018890.13        112520-112693       c
            1356-1433           AC018890.13        111722-111799       c
            1434-1571           AC018890.13        109116-109253       c
            1572-1677           AC018890.13        101918-102023       c
            1678-3156           AC018890.13        99020-100498        c
FEATURES             Location/Qualifiers
     source          1..3156
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..3156
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /note="chimerin 1"
                     /db_xref="GeneID:1123"
                     /db_xref="HGNC:HGNC:1943"
                     /db_xref="MIM:118423"
     exon            1..488
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             470..1849
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     N-chimaerin; a2-chimaerin; Rho GTPase-activating protein
                     2; alpha-chimerin; A-chimaerin; chimerin (chimaerin) 1;
                     chimaerin 1; n-chimerin"
                     /codon_start=1
                     /product="N-chimaerin isoform 1"
                     /protein_id="NP_001813.1"
                     /db_xref="CCDS:CCDS46455.1"
                     /db_xref="GeneID:1123"
                     /db_xref="HGNC:HGNC:1943"
                     /db_xref="MIM:118423"
                     /translation="MALTLFDTDEYRPPVWKSYLYQLQQEAPHPRRITCTCEVENRPK
                     YYGREFHGMISREAADQLLIVAEGSYLIRESQRQPGTYTLALRFGSQTRNFRLYYDGK
                     HFVGEKRFESIHDLVTDGLITLYIETKAAEYIAKMTINPIYEHVGYTTLNREPAYKKH
                     MPVLKETHDERDSTGQDGVSEKRLTSLVRRATLKENEQIPKYEKIHNFKVHTFRGPHW
                     CEYCANFMWGLIAQGVKCADCGLNVHKQCSKMVPNDCKPDLKHVKKVYSCDLTTLVKA
                     HTTKRPMVVDMCIREIESRGLNSEGLYRVSGFSDLIEDVKMAFDRDGEKADISVNMYE
                     DINIITGALKLYFRDLPIPLITYDAYPKFIESAKIMDPDEQLETLHEALKLLPPAHCE
                     TLRYLMAHLKRVTLHEKENLMNAENLGIVFGPTLMRSPELDAMAALNDIRYQRLVVEL
                     LIKNEDILF"
     exon            489..527
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            528..583
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            584..615
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            616..729
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            730..1018
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1096
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1181
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1355
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1433
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1571
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1677
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1678..3156
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2452..2457
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /note="hexamer: AATAAA"
     polyA_site      2474
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
     regulatory      2544..2549
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /note="hexamer: ATTAAA"
     regulatory      2562..2567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /note="hexamer: AATAAA"
     polyA_site      2570
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /note="major polyA site"
     polyA_site      2583
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
     polyA_site      2612
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
     regulatory      2628..2633
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2652
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
     regulatory      3136..3141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
                     /note="hexamer: AATAAA"
     polyA_site      3156
                     /gene="CHN1"
                     /gene_synonym="ARHGAP2; CHN; DURS2; NC; RHOGAP2"
ORIGIN      
        1 gtgggagacg ctatcgcaag atggcgtctg cgaggccgcg ggatgcggag tgagcgcgcc
       61 ccgccggggg ctgtgcgagg ctgctgctgc tctccccgtc gccgccgccg ccgccgccag
      121 tgcggcgccg cctctccgcc agccactgcg ccgcggccaa gcctcctgcc tcgcaggtac
      181 ctcctcccgc gcgcacgctc cgcgcctgat ggcagcgaca agtgccggct cgcggagagc
      241 tagcggggct ccctgggccc ggtgcgcccg acaataacgc gtgaataact ttttcttgca
      301 gcggtccccc gcgtcccggc ctgcagcctc cccgggcgcc ggcgccccca gcacgcccca
      361 tcgggcaccc cactctctcc gaggtgtggg tgcggcgggc tgatgaggtg atccctagcc
      421 cgcctgggag gagcgcctgg actcgcgggc ggcggcgagc gcctttacaa tggccctgac
      481 cctgtttgat acagatgaat atagacctcc tgtttggaaa tcttacttat atcagctaca
      541 acaggaagcc cctcatcctc gaagaattac ctgtacttgc gaggtggaaa acagaccaaa
      601 gtattatgga agagagtttc atggcatgat ctccagagaa gcagccgacc agctcttgat
      661 tgtggctgag gggagctacc tcatccggga gagccagcgg cagccaggga cctacacttt
      721 ggctttaaga tttggaagtc aaaccagaaa cttcaggctc tactacgatg gcaagcactt
      781 tgttggggag aaacgctttg agtccatcca cgatctggtg actgatggct tgattactct
      841 ctatattgaa accaaggcag cagaatacat tgccaagatg acgataaacc caatttatga
      901 gcacgtagga tacacaacct taaacagaga gccagcatac aaaaaacata tgccagtcct
      961 gaaagagaca catgatgaga gagattctac aggccaggat ggggtgtcag agaaaaggtt
     1021 gacatcactt gttagaagag caactctgaa agaaaacgag caaattccaa aatatgaaaa
     1081 gattcacaat ttcaaggtgc atacattcag agggccacac tggtgtgaat actgtgccaa
     1141 ctttatgtgg ggtctcattg ctcagggagt gaaatgtgca gattgtggtt tgaatgttca
     1201 taagcagtgt tccaagatgg tcccaaatga ctgtaagcca gacttgaagc atgtcaaaaa
     1261 ggtgtacagc tgtgacctta cgacgctcgt gaaagcacat accactaagc ggccaatggt
     1321 ggtagacatg tgcatcaggg agattgagtc tagaggtctt aattctgaag gactataccg
     1381 agtatcagga tttagtgacc taattgaaga tgtcaagatg gctttcgaca gagatggtga
     1441 gaaggcagat atttctgtga acatgtatga agatatcaac attatcactg gtgcacttaa
     1501 actgtacttc agggatttgc caattccact cattacatat gatgcctacc ctaagtttat
     1561 agaatctgcc aaaattatgg atccggatga gcaattggaa acccttcatg aagcactgaa
     1621 actactgcca cctgctcact gcgaaaccct ccggtacctc atggcacatc taaagagagt
     1681 gaccctccac gaaaaggaga atcttatgaa tgcagagaac cttggaatcg tctttggacc
     1741 cacccttatg agatctccag aactagacgc catggctgca ttgaatgata tacggtatca
     1801 gagactggtg gtggagctgc ttatcaaaaa cgaagacatt ttattttaaa tttttaattt
     1861 gaggggaaaa gaaatgtttt acagatgaag gaatgtttta tagtaattta atttgctcct
     1921 gtagctgcat tatttcttga ttagaggttt gggcatataa ccagattaaa gtgaaggaac
     1981 tttctgttgt ttttgtagca ccgctcagct gtcttgtaaa acagtgaaca cacgctttct
     2041 ggttctagta atcctgggtg tttatcacgt tcagagaaac tcaagctatt gcatgattag
     2101 ccccctatct ggcaaggaaa ccccatacag aagaaacaac aaacctgcgc ctgcaccgcc
     2161 tctgcgtcct gggtagtctg tgcttgtaat ccagcatgtt tcacagagta agcctgttgt
     2221 gactttgctt ttggggtcta tgtcattggt ttctgatgct tgtacaaaca cgcacacaca
     2281 aatggataaa acagcacctc tggctgttac attaccataa accatatcac atgcctacat
     2341 tttacaaatg atttctggtt tctcttagtt cttctctaac atagtacttt ctttccagca
     2401 aaagcaaaat gtgttttcag atttgttact ttaataaagg ttatccatac caataaaaag
     2461 tgtacaacac agcattttct gttaaattat tattggtttt cagttgtaat ttggtatttt
     2521 ttctggcatg cgtttattaa tttattaaat tggcttttag aaataaaaaa tattgatagc
     2581 ttactttttt ctcataagaa tattcgggaa aatgtgtttg gccatttatt aaatactgag
     2641 tacttcttct gacctctttt gtttactgtt aaaagtgata agcttctaaa ataatcattt
     2701 aaaactgctt acagttagaa caaccattaa ttccatttat ttttcttctt atattactct
     2761 ggcagaaatc tagaaaatat tttcttgaca tactttttaa tgagaggttg ggcaggagtt
     2821 cctaccagag ctctcagaag aagaaagagg ctaactaaaa agagtaactt cttctaaaca
     2881 tttgatttgt caaaaatata tgacatcaac atgcattgag ctgacaatgc tgcctgagag
     2941 atgagcccca gaggccaacc tggtggctgg agaaggggtc tgcagctagg ggccaggagc
     3001 ccagattctg ggcctggtac taccactggc cacctgtgtg gcttggagcc aacaaccctc
     3061 cagagtctgt ttctgtgcct atcagatgaa cacctttcta gaacgaaagt tccatcctgt
     3121 tttcaaattt ttaacaataa aagacacatg ttcaaa
//
