LOCUS       NM_001670               4056 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens ARVCF delta catenin family member (ARVCF), transcript
            variant 1, mRNA.
ACCESSION   NM_001670
VERSION     NM_001670.3
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 4056)
  AUTHORS   Suzuki,N., Idogawa,M., Tange,S., Ohashi,T., Sasaki,Y., Nakase,H.
            and Tokino,T.
  TITLE     p53-induced ARVCF modulates the splicing landscape and supports the
            tumor suppressive function of p53
  JOURNAL   Oncogene 39 (10), 2202-2211 (2020)
   PUBMED   31827232
  REMARK    GeneRIF: p53-induced ARVCF modulates the splicing landscape and
            supports the tumor suppressive function of p53.
REFERENCE   2  (bases 1 to 4056)
  AUTHORS   Zhang,D., Tang,N., Liu,Y. and Wang,E.H.
  TITLE     ARVCF expression is significantly correlated with the malignant
            phenotype of non-small cell lung cancer
  JOURNAL   Mol Carcinog 54 Suppl 1, E185-E191 (2015)
   PUBMED   25683624
  REMARK    GeneRIF: observed ARVCF-dependent changes in small GTPase (mainly
            RhoA) activity in lung cancer cells. We confirmed that ARVCF plays
            an important role in the malignant phenotype
REFERENCE   3  (bases 1 to 4056)
  AUTHORS   Markham,N.O., Doll,C.A., Dohn,M.R., Miller,R.K., Yu,H.,
            Coffey,R.J., McCrea,P.D., Gamse,J.T. and Reynolds,A.B.
  TITLE     DIPA-family coiled-coils bind conserved isoform-specific head
            domain of p120-catenin family: potential roles in hydrocephalus and
            heterotopia
  JOURNAL   Mol Biol Cell 25 (17), 2592-2603 (2014)
   PUBMED   25009281
REFERENCE   4  (bases 1 to 4056)
  AUTHORS   Boardman,J.P., Walley,A., Ball,G., Takousis,P., Krishnan,M.L.,
            Hughes-Carre,L., Aljabar,P., Serag,A., King,C., Merchant,N.,
            Srinivasan,L., Froguel,P., Hajnal,J., Rueckert,D., Counsell,S. and
            Edwards,A.D.
  TITLE     Common genetic variants and risk of brain injury after preterm
            birth
  JOURNAL   Pediatrics 133 (6), e1655-e1663 (2014)
   PUBMED   24819575
  REMARK    GeneRIF: Carriage of the minor allele at rs2518824 in the armadillo
            repeat gene deleted in velocardiofacial syndrome (ARVCF) gene was
            associated with white matter abnormality.
REFERENCE   5  (bases 1 to 4056)
  AUTHORS   Rappe,U., Schlechter,T., Aschoff,M., Hotz-Wagenblatt,A. and
            Hofmann,I.
  TITLE     Nuclear ARVCF protein binds splicing factors and contributes to the
            regulation of alternative splicing
  JOURNAL   J Biol Chem 289 (18), 12421-12434 (2014)
   PUBMED   24644279
  REMARK    GeneRIF: Data indicate that armadillo repeat protein ARVCF
            interacts with the splicing factors the splicing factor SRSF1
            (SF2/ASF), the RNA helicase p68 (DDX5), and the heterogeneous
            nuclear ribonucleoprotein hnRNP H2.
REFERENCE   6  (bases 1 to 4056)
  AUTHORS   Mariner,D.J., Wang,J. and Reynolds,A.B.
  TITLE     ARVCF localizes to the nucleus and adherens junction and is
            mutually exclusive with p120(ctn) in E-cadherin complexes
  JOURNAL   J Cell Sci 113 (Pt 8), 1481-1490 (2000)
   PUBMED   10725230
REFERENCE   7  (bases 1 to 4056)
  AUTHORS   Bonne,S., van Hengel,J. and van Roy,F.
  TITLE     Chromosomal mapping of human armadillo genes belonging to the
            p120(ctn)/plakophilin subfamily
  JOURNAL   Genomics 51 (3), 452-454 (1998)
   PUBMED   9721216
REFERENCE   8  (bases 1 to 4056)
  AUTHORS   Sirotkin,H., Morrow,B., Saint-Jore,B., Puech,A., Das Gupta,R.,
            Patanjali,S.R., Skoultchi,A., Weissman,S.M. and Kucherlapati,R.
  TITLE     Identification, characterization, and precise mapping of a human
            gene encoding a novel membrane-spanning protein from the 22q11
            region deleted in velo-cardio-facial syndrome
  JOURNAL   Genomics 42 (2), 245-251 (1997)
   PUBMED   9192844
REFERENCE   9  (bases 1 to 4056)
  AUTHORS   Sirotkin,H., O'Donnell,H., DasGupta,R., Halford,S., St Jore,B.,
            Puech,A., Parimoo,S., Morrow,B., Skoultchi,A., Weissman,S.M.,
            Scambler,P. and Kucherlapati,R.
  TITLE     Identification of a new human catenin gene family member (ARVCF)
            from the region deleted in velo-cardio-facial syndrome
  JOURNAL   Genomics 41 (1), 75-83 (1997)
   PUBMED   9126485
REFERENCE   10 (bases 1 to 4056)
  AUTHORS   Lindsay,E.A., Goldberg,R., Jurecic,V., Morrow,B., Carlson,C.,
            Kucherlapati,R.S., Shprintzen,R.J. and Baldini,A.
  TITLE     Velo-cardio-facial syndrome: frequency and extent of 22q11
            deletions
  JOURNAL   Am J Med Genet 57 (3), 514-522 (1995)
   PUBMED   7677167
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005663.2 and U51269.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001670.2.
            
            Summary: Armadillo Repeat gene deleted in Velo-Cardio-Facial
            syndrome (ARVCF) is a member of the catenin family. This family
            plays an important role in the formation of adherens junction
            complexes, which are thought to facilitate communication between
            the inside and outside environments of a cell. The ARVCF gene was
            isolated in the search for the genetic defect responsible for the
            autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively
            common human disorder with phenotypic features including cleft
            palate, conotruncal heart defects and facial dysmorphology. The
            ARVCF gene encodes a protein containing two motifs, a coiled coil
            domain in the N-terminus and a 10 armadillo repeat sequence in the
            midregion. Since these sequences can facilitate protein-protein
            interactions ARVCF is thought to function in a protein complex. In
            addition, ARVCF contains a predicted nuclear-targeting sequence
            suggesting that it may have a function as a nuclear protein.
            [provided by RefSeq, Jun 2010].
            
            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 :: U51269.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263207.8/ ENSP00000263207.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AC005663.2         70606-70642         c
            38-4056             U51269.1           2-4020
FEATURES             Location/Qualifiers
     source          1..4056
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..4056
                     /gene="ARVCF"
                     /note="ARVCF delta catenin family member"
                     /db_xref="GeneID:421"
                     /db_xref="HGNC:HGNC:728"
                     /db_xref="MIM:602269"
     exon            1..235
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            236..289
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            290..517
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     CDS             308..3196
                     /gene="ARVCF"
                     /note="isoform 1 is encoded by transcript variant 1;
                     armadillo repeat protein deleted in velo-cardio-facial
                     syndrome; armadillo repeat gene deleted in
                     velocardiofacial syndrome; splicing regulator ARVCF"
                     /codon_start=1
                     /product="splicing regulator ARVCF isoform 1"
                     /protein_id="NP_001661.1"
                     /db_xref="CCDS:CCDS13771.1"
                     /db_xref="GeneID:421"
                     /db_xref="HGNC:HGNC:728"
                     /db_xref="MIM:602269"
                     /translation="MEDCNVHSAASILASVKEQEARFERLTRALEQERRHVALQLERA
                     QQPGMVSGGMGSGQPLPMAWQQLVLQEQSPGSQASLATMPEAPDVLEETVTVEEDPGT
                     PTSHVSIVTSEDGTTRRTETKVTKTVKTVTTRTVRQVPVGPDGLPLLDGGPPLGPFAD
                     GALDRHFLLRGGGPVATLSRAYLSSGGGFPEGPEPRDSPSYGSLSRGLGMRPPRAGPL
                     GPGPGDGCFTLPGHREAFPVGPEPGPPGGRSLPERFQAEPYGLEDDTRSLAADDEGGP
                     ELEPDYGTATRRRPECGRGLHTRAYEDTADDGGELADERPAFPMVTAPLAQPERGSMG
                     SLDRLVRRSPSVDSARKEPRWRDPELPEVLAMLRHPVDPVKANAAAYLQHLCFENEGV
                     KRRVRQLRGLPLLVALLDHPRAEVRRRACGALRNLSYGRDTDNKAAIRDCGGVPALVR
                     LLRAARDNEVRELVTGTLWNLSSYEPLKMVIIDHGLQTLTHEVIVPHSGWEREPNEDS
                     KPRDAEWTTVFKNTSGCLRNVSSDGAEARRRLRECEGLVDALLHALQSAVGRKDTDNK
                     SVENCVCIMRNLSYHVHKEVPGADRYQEAEPGPLGSAVGSQRRRRDDASCFGGKKAKE
                     EWFHQGKKDGEMDRNFDTLDLPKRTEAAKGFELLYQPEVVRLYLSLLTESRNFNTLEA
                     AAGALQNLSAGNWMWATYIRATVRKERGLPVLVELLQSETDKVVRAVAIALRNLSLDR
                     RNKDLIGSYAMAELVRNVRNAQAPPRPGACLEEDTVVAVLNTIHEIVSDSLDNARSLL
                     QARGVPALVALVASSQSVREAKAASHVLQTVWSYKELRGTLQKDGWTKARFQSAAATA
                     KGPKGALSPGGFDDSTLPLVDKSLEGEKTGSRDVIPMDALGPDGYSTVDRRERRPRGA
                     SSAGEASEKEPLKLDPSRKAPPPGPSRPAVRLVDAVGDAKPQPVDSWV"
     exon            518..676
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            677..1203
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1703
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1704..1887
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1888..2005
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2006..2177
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2178..2195
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2196..2267
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2268..2395
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2396..2546
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2547..2745
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2746..2857
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2858..2948
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2949..3002
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            3003..3088
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            3089..3208
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     exon            3209..4056
                     /gene="ARVCF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4039..4044
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARVCF"
                     /note="hexamer: ATTAAA"
     polyA_site      4056
                     /gene="ARVCF"
                     /note="major polyA site"
ORIGIN      
        1 gcgcacgggc cgcgtgaggg cgggagggct ggcccggggt ctcgggttgc gcgctgggcc
       61 tggagggagg gggcggcccc cgcaccggtc cgagttgcgg ccgcgtggac tgcgacccgc
      121 gccgcgccgc accgcgccgc gccctgggaa cgccgctccc cgcgcgccaa cggacccggg
      181 gaagcccttc tggggtccga ggccgcgctg cggggccgcc cacgctgcgc tccaggagcc
      241 agagcctgca gggtgggtgt cgggacatgc tgatcttccc tcaagacagc tggcgggcgc
      301 tctggtcatg gaggactgca atgtgcactc ggccgccagc atcctggcct cggtgaagga
      361 gcaggaggcc cgcttcgaga ggctgacacg ggcactggag caggagcggc gccatgttgc
      421 cctacagctg gagcgtgccc agcagcctgg catggtcagt ggtggcatgg gcagtgggca
      481 gcccctgcca atggcctggc aacagctggt cctccaggag cagagcccag gcagccaggc
      541 ctcactggcc acgatgccgg aggcacctga tgtgctggag gagaccgtga cggtggagga
      601 ggaccccggc acacccactt cccatgtgtc tattgtcaca tccgaagatg gcacaacccg
      661 gcgcaccgag accaaggtca ccaagactgt caagacggtg accactcgga cagtacgcca
      721 ggtgcccgtg ggcccagatg gactccccct gctggatggc ggccccccac taggcccttt
      781 tgcagatggt gccctggacc ggcatttcct gctgcgtggt ggtggcccag tggccacact
      841 ctctcgagcc tacctcagca gtgggggtgg ctttcccgaa ggccccgagc cccgggacag
      901 ccccagctat ggcagcctgt cccgagggct gggcatgcgg cccccacgtg ctggccccct
      961 tggcccaggc cctggtgatg gctgcttcac actgcctggc caccgggaag ccttcccggt
     1021 gggtcctgag cctgggccac caggtggccg ctccctgccc gagcgcttcc aggcagagcc
     1081 gtatggcttg gaggatgaca cgcgcagcct ggccgctgat gacgagggtg gccctgagct
     1141 ggagcctgac tatggcacgg ccacaaggag gaggcctgag tgtgggcggg gccttcatac
     1201 cagggcctac gaggacacag cagatgatgg cggcgagctg gcggacgagc ggcctgcgtt
     1261 cccaatggtg acggcgcccc tggcccagcc tgaacggggc agcatgggca gcctggaccg
     1321 gctggtgcgg cgctcgccct cagtggatag cgcccgcaag gagccgcgct ggcgggaccc
     1381 tgagctgcct gaggtgctgg ccatgctgcg gcaccccgtg gaccccgtga aggccaatgc
     1441 ggccgcctac ctgcagcatc tgtgctttga gaacgagggt gtcaagcggc gtgtacggca
     1501 gttgcggggg ctgccgctgc ttgtggcact gctggaccac ccgcgggctg aggtgcggcg
     1561 ccgggcctgt ggggcactgc gcaacctctc ctatggccgc gacactgaca acaaggccgc
     1621 catccgggac tgcggtggtg tgcctgccct ggtgcgcctg ctgagggctg cccgggacaa
     1681 cgaggtccgt gagcttgtca ctggcaccct gtggaacctg tcatcctatg agcccctgaa
     1741 gatggtcatc attgaccatg gcctgcagac gctgacccac gaggtgatcg tgccccactc
     1801 aggatgggag cgtgagccca acgaggactc caagccacgg gacgccgagt ggacaactgt
     1861 cttcaagaac acgtcgggct gcctgaggaa tgtgagctcc gatggtgctg aggcccggcg
     1921 gcgactccgg gagtgtgaag ggctggtgga cgcgctcctg catgccctgc agtcggctgt
     1981 gggccggaag gacactgaca acaagtcggt ggagaactgc gtgtgcatca tgcggaacct
     2041 gtcctaccac gtgcacaagg aggtgcccgg ggccgacagg taccaggagg ccgagcccgg
     2101 gcccctgggc agtgctgtag gctcccagcg ccggaggcgg gatgatgcca gctgctttgg
     2161 aggcaagaag gccaaagagg agtggttcca ccaaggaaag aaggatggtg agatggaccg
     2221 gaactttgac acgctagacc tgcccaagcg aactgaggcc gccaaaggct ttgagctgct
     2281 gtaccagccc gaggtggtac gtctctacct ctccctcctc acggagagcc ggaacttcaa
     2341 caccctggag gctgccgccg gcgctctgca gaacctcagt gccggcaact ggatgtgggc
     2401 cacgtacatc cgcgccacag tgcgcaaaga gcgcgggctg ccggtgcttg tggaactgct
     2461 gcagtctgag accgacaagg tggtgcgcgc cgtcgccatc gctctgcgca acctctcgct
     2521 ggaccggcgc aacaaagacc tcatcgggag ctacgccatg gctgagcttg tgcggaatgt
     2581 gcgcaatgca caggctccgc cgcgaccggg ggcctgcctg gaggaagaca ccgtggtggc
     2641 ggtgctcaac accatccacg aaatcgtgtc cgacagcctg gataacgcgc gctcgctcct
     2701 gcaggcacgc ggggtgccag cgttggtggc tctcgtggcc tccagccaat cggtacgcga
     2761 agcgaaggcg gcgtcacacg tgctgcagac agtgtggagc tacaaggagc tgcgtggtac
     2821 cttgcagaaa gatggttgga ccaaggcgcg cttccagtca gctgctgcta ctgccaaggg
     2881 gcctaaggga gcactgagtc ctgggggctt cgatgacagc acgctgccac tggtggacaa
     2941 gagccttgag ggcgagaaaa ctggcagccg ggatgtgatc cccatggatg cgctgggccc
     3001 agacggatac tccacggtgg accggaggga gcggaggcca cggggcgcca gctctgcagg
     3061 agaggcctct gagaaggaac ccttgaaact cgaccccagc aggaaggccc ctccccccgg
     3121 gcccagcagg cccgcggtca ggctggtgga cgccgtaggg gacgctaagc ctcagcccgt
     3181 tgattcctgg gtctagcttg catgcctggg cccaggccca gcctcttgtt cttagggctt
     3241 ggatcgtgga agaagggcca ccctgagcag atcgtgccgt ggagcttgga gccccctggc
     3301 ggcaggggtt ggcagcgcct cgccccagcc aagcctgact ttggggacac cctcctgccc
     3361 ccccacccca ctccccccat cctacctaac tccctaggcc tgagttagct gtttactgac
     3421 atggtgctgt gtgtgagcga gtgacagaag gcccgaggag gccgactggg ctgctggggc
     3481 agggcccagg gaggtggcag ggaagggtgc ctggctgggc tttggggctg gtgggatagg
     3541 agggtgcccc tgggaacaca gtgccccagt ggtgcgggcc aggtctggcg ccaggggcag
     3601 gcagctaggc agggaggggg ctgggaaaga acttggactt ctaaaggcgg agggtctccc
     3661 tgggcaccct gcaggcaggc agaccacggt gtggggggtg ccccacaagg cccagccctg
     3721 ggcaaggaag ctttggaagc agcaaggtgg gggtcaggct acaggtgccc cacctcccca
     3781 gagccctgca gtcacgtgag gcccctgtgc agtagagagc ctttctccag cccatgctgg
     3841 ctggggccgg ggctgccgca tctgcctgga gcctgggcag cacctccggg actgaccttc
     3901 ggcagtggct gggggactgc tttcagtgcc tgctgttcgt gactcagaaa cagaagaaaa
     3961 acactgagaa aaagcattaa aaataagcca aaataagact attggtaaac acctaaattt
     4021 ttgtaagaaa atttaaaaat taaagcagca aaggaa
//
