LOCUS       NM_033257               1172 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens DiGeorge syndrome critical region gene 6 like
            (DGCR6L), mRNA.
ACCESSION   NM_033257
VERSION     NM_033257.4
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 1172)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1172)
  AUTHORS   Corominas,R., Yang,X., Lin,G.N., Kang,S., Shen,Y., Ghamsari,L.,
            Broly,M., Rodriguez,M., Tam,S., Wanamaker,S.A., Fan,C., Yi,S.,
            Tasan,M., Lemmens,I., Kuang,X., Zhao,N., Malhotra,D.,
            Michaelson,J.J., Vacic,V., Calderwood,M.A., Roth,F.P.,
            Tavernier,J., Horvath,S., Salehi-Ashtiani,K., Korkin,D., Sebat,J.,
            Hill,D.E., Hao,T., Vidal,M. and Iakoucheva,L.M.
  TITLE     Protein interaction network of alternatively spliced isoforms from
            brain links genetic risk factors for autism
  JOURNAL   Nat Commun 5, 3650 (2014)
   PUBMED   24722188
  REMARK    Erratum:[Nat Commun. 2023 Feb 2;14(1):569. doi:
            10.1038/s41467-023-36264-y.. PMID: 36732511]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1172)
  AUTHORS   Das Chakraborty,R., Bernal,A.J., Schoch,K., Howard,T.D., Ip,E.H.,
            Hooper,S.R., Keshavan,M.S., Jirtle,R.L. and Shashi,V.
  TITLE     Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in
            chromosome 22q11.2 deletion syndrome
  JOURNAL   Transl Psychiatry 2 (4), e105 (2012)
   PUBMED   22832905
  REMARK    GeneRIF: Further studies are now needed to test the usefulness of
            DGCR6 and DGCR6L expression and alterations in the epigenome at
            these loci in predicting childhood anxiety and associated
            adult-onset pathologies in 22q11DS subjects.
            Erratum:[Transl Psychiatry. 2012;2:e124. Chakraborty, D [corrected
            to Das Chakraborty, R]]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1172)
  AUTHORS   Simonis,N., Rual,J.F., Lemmens,I., Boxus,M., Hirozane-Kishikawa,T.,
            Gatot,J.S., Dricot,A., Hao,T., Vertommen,D., Legros,S., Daakour,S.,
            Klitgord,N., Martin,M., Willaert,J.F., Dequiedt,F., Navratil,V.,
            Cusick,M.E., Burny,A., Van Lint,C., Hill,D.E., Tavernier,J.,
            Kettmann,R., Vidal,M. and Twizere,J.C.
  TITLE     Host-pathogen interactome mapping for HTLV-1 and -2 retroviruses
  JOURNAL   Retrovirology 9, 26 (2012)
   PUBMED   22458338
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1172)
  AUTHORS   Li,X., Ke,Q., Li,Y., Liu,F., Zhu,G. and Li,F.
  TITLE     DGCR6L, a novel PAK4 interaction protein, regulates PAK4-mediated
            migration of human gastric cancer cell via LIMK1
  JOURNAL   Int J Biochem Cell Biol 42 (1), 70-79 (2010)
   PUBMED   19778628
  REMARK    GeneRIF: DGCR6L, a novel PAK4 interacting protein, regulated
            PAK4-mediated migration of human gastric cancer cells via LIMK1.
REFERENCE   6  (bases 1 to 1172)
  AUTHORS   Pfuhl,T., Durr,M., Spurk,A., Schwalbert,B., Nord,R., Mysliwietz,J.,
            Kremmer,E. and Grasser,F.A.
  TITLE     Biochemical characterisation of the proteins encoded by the
            DiGeorge critical region 6 (DGCR6) genes
  JOURNAL   Hum Genet 117 (1), 70-80 (2005)
   PUBMED   15821931
REFERENCE   7  (bases 1 to 1172)
  AUTHORS   Edelmann,L., Stankiewicz,P., Spiteri,E., Pandita,R.K., Shaffer,L.,
            Lupski,J.R. and Morrow,B.E.
  TITLE     Two functional copies of the DGCR6 gene are present on human
            chromosome 22q11 due to a duplication of an ancestral locus
  JOURNAL   Genome Res 11 (2), 208-217 (2001)
   PUBMED   11157784
  REMARK    Erratum:[Genome Res 2001 Mar;11(3):503. Lupski, J [corrected to
            Lupski, JR]]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007663.29 and BC000682.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_033257.3.
            
            Summary: This gene, the result of a duplication at this locus, is
            one of two functional genes encoding nearly identical proteins that
            have similar expression patterns. The product of this gene is a
            protein that shares homology with the Drosophila gonadal protein,
            expressed in gonadal tissues and germ cells, and with the human
            laminin gamma-1 chain that functions in cell attachment and
            migration. This gene is located in a region of chromosome 22
            implicated in the DiGeorge syndrome, one facet of a broader
            collection of anomalies referred to as the CATCH 22 syndrome.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.684320.1,
                                           SRR1163655.203191.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000248879.8/ ENSP00000248879.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AC007663.29        166357-166375       c
            20-1134             BC000682.2         1-1115
            1135-1172           AC007663.29        160553-160590       c
FEATURES             Location/Qualifiers
     source          1..1172
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..1172
                     /gene="DGCR6L"
                     /gene_synonym="DGCR6"
                     /note="DiGeorge syndrome critical region gene 6 like"
                     /db_xref="GeneID:85359"
                     /db_xref="HGNC:HGNC:18551"
                     /db_xref="MIM:609459"
     exon            1..182
                     /gene="DGCR6L"
                     /gene_synonym="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..735
                     /gene="DGCR6L"
                     /gene_synonym="DGCR6"
                     /note="diGeorge syndrome critical region 6-like protein"
                     /codon_start=1
                     /product="protein DGCR6L"
                     /protein_id="NP_150282.2"
                     /db_xref="CCDS:CCDS13778.1"
                     /db_xref="GeneID:85359"
                     /db_xref="HGNC:HGNC:18551"
                     /db_xref="MIM:609459"
                     /translation="MERYAAALEEVADGARQQERHYQLLSALQSLVKELPSSFQQRLS
                     YTTLSDLALALLDGTVFEIVQGLLEIQHLTEKSLYNQRLRLQNEHRVLRQALRQKHQE
                     AQQACRPHNLPVVQAAQQRELEAVEHRIREEQRAMDQKIILELDRKVADQQSTLEKAG
                     VAGFYVTTNPQELMLQMNLLELIRKLQQRGCRAGNAALGLGGPWQSPAAQCDQKGSPV
                     PP"
     exon            183..343
                     /gene="DGCR6L"
                     /gene_synonym="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     exon            344..444
                     /gene="DGCR6L"
                     /gene_synonym="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     exon            445..585
                     /gene="DGCR6L"
                     /gene_synonym="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     exon            586..1172
                     /gene="DGCR6L"
                     /gene_synonym="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1108..1113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DGCR6L"
                     /gene_synonym="DGCR6"
                     /note="hexamer: AATAAA"
     polyA_site      1134
                     /gene="DGCR6L"
                     /gene_synonym="DGCR6"
                     /note="major polyA site"
ORIGIN      
        1 gcgccgcgct cgggatgtcg tgaagctggg ggagctcgtc gccgccgccg gcggctagcg
       61 ggcgtccgcg ccatggagcg ctacgcggcc gccttggagg aggtggcgga cggtgcccgg
      121 cagcaggagc gacactacca gttgctgtcg gcgctacaga gcctggtgaa ggagttgccc
      181 agctctttcc agcagcgcct gtcctacacc acgctcagcg acctggccct ggcgcttctc
      241 gacggcaccg tgttcgaaat cgtgcagggg ctactggaga tccagcacct caccgaaaag
      301 agcctgtaca accagcgcct gcgcctacag aacgagcacc gagtgctcag gcaggcgctg
      361 cggcagaagc accaggaagc ccagcaggcc tgccggcccc acaacctgcc tgtggttcag
      421 gcggctcagc agcgagaact agaggccgtg gaacaccgga tccgtgagga gcagcgggcg
      481 atggaccaga agatcatcct ggagctggac cggaaggtgg ctgaccagca gagcacactg
      541 gagaaggcgg gggtggctgg cttctacgtg accaccaacc cacaggagct gatgctgcag
      601 atgaacctgc tggaactcat ccgaaagctg cagcagaggg gctgccgggc agggaatgca
      661 gccctgggac tgggaggtcc ctggcagtcg cctgctgccc agtgtgacca gaaaggcagc
      721 cctgtcccac catagccaca ggcagcagaa gtctgggcag agttcatctt cttgaccttt
      781 ggccactgcc ttcccagctg cccgcagggg gttccccctg ctgaggagag accaggtgga
      841 ccccagctgc ctgtcaccct tcatctggga cttgctgtca aaccctagga tagtctcata
      901 aaggggaggc tgggccagcc tgctgctgtc tgcttcagga ccaggcagag agtgaggctg
      961 ggggttctca caccttactc caccgggcac atcccaacct gcactggggc ccacccgagc
     1021 gcttgttctg gtctcagccg ctcccttggc agctgcagcc cccatgcaga agaggctccc
     1081 aggcccaagc tctgtgtgac ccagagaaat aaagatgcct cagtgtggcc caaatgtggc
     1141 ttgtgtgata gctgcaggtt ctgccataac cg
//
