LOCUS       NM_004284               2967 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens chromodomain helicase DNA binding protein 1 like
            (CHD1L), transcript variant 1, mRNA.
ACCESSION   NM_004284 XM_378182
VERSION     NM_004284.6
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 2967)
  AUTHORS   Chen,S., Fan,Y., Sun,Y., Li,S., Zheng,Z., Chu,C., Li,L. and Yin,C.
  TITLE     Identification and functional characteristics of CHD1L gene
            variants implicated in human Mullerian duct anomalies
  JOURNAL   Biol Res 57 (1), 68 (2024)
   PUBMED   39342328
  REMARK    GeneRIF: Identification and functional characteristics of CHD1L
            gene variants implicated in human Mullerian duct anomalies.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2967)
  AUTHORS   Schulz,V.E., Tuff,J.F., Tough,R.H., Lewis,L., Chimukangara,B.,
            Garrett,N., Abdool Karim,Q., Abdool Karim,S.S., McKinnon,L.R.,
            Kharsany,A.B.M. and McLaren,P.J.
  TITLE     Host genetic variation at a locus near CHD1L impacts HIV sequence
            diversity in a South African population
  JOURNAL   J Virol 97 (10), e0095423 (2023)
   PUBMED   37747237
  REMARK    GeneRIF: Host genetic variation at a locus near CHD1L impacts HIV
            sequence diversity in a South African population.
REFERENCE   3  (bases 1 to 2967)
  AUTHORS   Zhang,X. and Sun,Y.
  TITLE     Chromodomain Helicase DNA Binding Protein 1-like, a negative
            regulator of Forkhead box O3a, promotes the proliferation and
            migration of Angiotensin II-induced vascular smooth muscle cells
  JOURNAL   Bioengineered 13 (2), 2597-2609 (2022)
   PUBMED   35001835
  REMARK    GeneRIF: Chromodomain Helicase DNA Binding Protein 1-like, a
            negative regulator of Forkhead box O3a, promotes the proliferation
            and migration of Angiotensin II-induced vascular smooth muscle
            cells.
REFERENCE   4  (bases 1 to 2967)
  AUTHORS   Mohapatra,J., Tashiro,K., Beckner,R.L., Sierra,J., Kilgore,J.A.,
            Williams,N.S. and Liszczak,G.
  TITLE     Serine ADP-ribosylation marks nucleosomes for ALC1-dependent
            chromatin remodeling
  JOURNAL   Elife 10, e71502 (2021)
   PUBMED   34874266
  REMARK    GeneRIF: Serine ADP-ribosylation marks nucleosomes for
            ALC1-dependent chromatin remodeling.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2967)
  AUTHORS   Harvard,C., Strong,E., Mercier,E., Colnaghi,R., Alcantara,D.,
            Chow,E., Martell,S., Tyson,C., Hrynchak,M., McGillivray,B.,
            Hamilton,S., Marles,S., Mhanni,A., Dawson,A.J., Pavlidis,P.,
            Qiao,Y., Holden,J.J., Lewis,S.M., O'Driscoll,M. and
            Rajcan-Separovic,E.
  TITLE     Understanding the impact of 1q21.1 copy number variant
  JOURNAL   Orphanet J Rare Dis 6, 54 (2011)
   PUBMED   21824431
  REMARK    GeneRIF: 1q21.1 copy number variant (CNV) results in newly
            identified function such as decatenation (chromatid untangling)
            checkpoint (DCC) activation in the case of CHD1l/ALC1 in
            lymphoblast cell lines.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2967)
  AUTHORS   Chen,L., Yuan,Y.F., Li,Y., Chan,T.H., Zheng,B.J., Huang,J. and
            Guan,X.Y.
  TITLE     Clinical significance of CHD1L in hepatocellular carcinoma and
            therapeutic potentials of virus-mediated CHD1L depletion
  JOURNAL   Gut 60 (4), 534-543 (2011)
   PUBMED   21068133
  REMARK    GeneRIF: Overexpression of CHD1L was significantly associated with
            tumour microsatellite formation, advanced tumour stage, overall
            survival time of patients who received transarterial
            chemoembolisation treatment and chemoresistance in hepatocellular
            carcinoma.
REFERENCE   7  (bases 1 to 2967)
  AUTHORS   Chen,L., Chan,T.H., Yuan,Y.F., Hu,L., Huang,J., Ma,S., Wang,J.,
            Dong,S.S., Tang,K.H., Xie,D., Li,Y. and Guan,X.Y.
  TITLE     CHD1L promotes hepatocellular carcinoma progression and metastasis
            in mice and is associated with these processes in human patients
  JOURNAL   J Clin Invest 120 (4), 1178-1191 (2010)
   PUBMED   20335658
  REMARK    GeneRIF: CHD1L promotes hepatocellular carcinoma progression and
            metastasis in mice and is associated with these processes in human
            patients.
REFERENCE   8  (bases 1 to 2967)
  AUTHORS   Ahel,D., Horejsi,Z., Wiechens,N., Polo,S.E., Garcia-Wilson,E.,
            Ahel,I., Flynn,H., Skehel,M., West,S.C., Jackson,S.P.,
            Owen-Hughes,T. and Boulton,S.J.
  TITLE     Poly(ADP-ribose)-dependent regulation of DNA repair by the
            chromatin remodeling enzyme ALC1
  JOURNAL   Science 325 (5945), 1240-1243 (2009)
   PUBMED   19661379
  REMARK    GeneRIF: results define ALC1 as a DNA damage-response protein whose
            role in this process is sustained by its association with known DNA
            repair factors and its rapid poly(ADP-ribose)-dependent recruitment
            to DNA damage sites
REFERENCE   9  (bases 1 to 2967)
  AUTHORS   Gottschalk,A.J., Timinszky,G., Kong,S.E., Jin,J., Cai,Y.,
            Swanson,S.K., Washburn,M.P., Florens,L., Ladurner,A.G.,
            Conaway,J.W. and Conaway,R.C.
  TITLE     Poly(ADP-ribosyl)ation directs recruitment and activation of an
            ATP-dependent chromatin remodeler
  JOURNAL   Proc Natl Acad Sci U S A 106 (33), 13770-13774 (2009)
   PUBMED   19666485
  REMARK    GeneRIF: Poly(ADP-ribosyl)ation directs recruitment and activation
            of the ATP-dependent chromatin remodeler ALC1
            GeneRIF: Alc1 is a chromatin remodeling enzyme activated by binding
            of its macrodomain to poly(ADP-ribosyl)ated Parp1. Alc1 is
            recruited to nucleosomes in vitro and to chromatin in cells when
            Parp1 catalyzes poly(ADP-ribose) synthesis at sites of DNA damage.
REFERENCE   10 (bases 1 to 2967)
  AUTHORS   Ma,N.F., Hu,L., Fung,J.M., Xie,D., Zheng,B.J., Chen,L., Tang,D.J.,
            Fu,L., Wu,Z., Chen,M., Fang,Y. and Guan,X.Y.
  TITLE     Isolation and characterization of a novel oncogene, amplified in
            liver cancer 1, within a commonly amplified region at 1q21 in
            hepatocellular carcinoma
  JOURNAL   Hepatology 47 (2), 503-510 (2008)
   PUBMED   18023026
  REMARK    GeneRIF: ALC1 is the target oncogene within the chromosome 1q21
            amplicon and plays a pivotal role in hepeatocellular carcinoma
            pathogenesis.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC242426.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004284.5.
            
            Summary: This gene encodes a DNA helicase protein involved in DNA
            repair. The protein converts ATP to add poly(ADP-ribose) as it
            regulates chromatin relaxation following DNA damage. Overexpression
            of this gene has been linked to several types of cancers. [provided
            by RefSeq, Feb 2017].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: AF537213.1, SRR1803617.21053.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369258.8/ ENSP00000358262.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-147               AC242426.1         121347-121493       c
            148-260             AC242426.1         111442-111554       c
            261-367             AC242426.1         109201-109307       c
            368-482             AC242426.1         108250-108364       c
            483-514             AC242426.1         107615-107646       c
            515-596             AC242426.1         104259-104340       c
            597-759             AC242426.1         99593-99755         c
            760-915             AC242426.1         98090-98245         c
            916-1008            AC242426.1         96659-96751         c
            1009-1105           AC242426.1         95299-95395         c
            1106-1179           AC242426.1         93172-93245         c
            1180-1290           AC242426.1         91896-92006         c
            1291-1405           AC242426.1         88709-88823         c
            1406-1559           AC242426.1         87920-88073         c
            1560-1725           AC242426.1         83986-84151         c
            1726-1874           AC242426.1         79678-79826         c
            1875-2038           AC242426.1         78690-78853         c
            2039-2241           AC242426.1         77677-77879         c
            2242-2340           AC242426.1         76444-76542         c
            2341-2411           AC242426.1         72625-72695         c
            2412-2526           AC242426.1         70455-70569         c
            2527-2635           AC242426.1         69660-69768         c
            2636-2967           AC242426.1         68415-68746         c
FEATURES             Location/Qualifiers
     source          1..2967
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.1"
     gene            1..2967
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /note="chromodomain helicase DNA binding protein 1 like"
                     /db_xref="GeneID:9557"
                     /db_xref="HGNC:HGNC:1916"
                     /db_xref="MIM:613039"
     exon            1..147
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..2714
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /EC_number="3.6.4.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     amplified in liver cancer 1; amplified in liver cancer
                     protein 1"
                     /codon_start=1
                     /product="chromodomain-helicase-DNA-binding protein 1-like
                     isoform 1"
                     /protein_id="NP_004275.4"
                     /db_xref="CCDS:CCDS927.1"
                     /db_xref="GeneID:9557"
                     /db_xref="HGNC:HGNC:1916"
                     /db_xref="MIM:613039"
                     /translation="MERAGATSRGGQAPGFLLRLHTEGRAEAARVQEQDLRQWGLTGI
                     HLRSYQLEGVNWLAQRFHCQNGCILGDEMGLGKTCQTIALFIYLAGRLNDEGPFLILC
                     PLSVLSNWKEEMQRFAPGLSCVTYAGDKEERACLQQDLKQESRFHVLLTTYEICLKDA
                     SFLKSFPWSVLVVDEAHRLKNQSSLLHKTLSEFSVVFSLLLTGTPIQNSLQELYSLLS
                     FVEPDLFSKEEVGDFIQRYQDIEKESESASELHKLLQPFLLRRVKAEVATELPKKTEV
                     VIYHGMSALQKKYYKAILMKDLDAFENETAKKVKLQNILSQLRKCVDHPYLFDGVEPE
                     PFEVGDHLTEASGKLHLLDKLLAFLYSGGHRVLLFSQMTQMLDILQDYMDYRGYSYER
                     VDGSVRGEERHLAIKNFGQQPIFVFLLSTRAGGVGMNLTAADTVIFVDSDFNPQNDLQ
                     AAARAHRIGQNKSVKVIRLIGRDTVEEIVYRKAASKLQLTNMIIEGGHFTLGAQKPAA
                     DADLQLSEILKFGLDKLLASEGSTMDEIDLESILGETKDGQWVSDALPAAEGGSRDQE
                     EGKNHMYLFEGKDYSKEPSKEDRKSFEQLVNLQKTLLEKASQEGRSLRNKGSVLIPGL
                     VEGSTKRKRVLSPEELEDRQKKRQEAAAKRRRLIEEKKRQKEEAEHKKKMAWWESNNY
                     QSFCLPSEESEPEDLENGEESSAELDYQDPDATSLKYVSGDVTHPQAGAEDALIVHCV
                     DDSGHWGRGGLFTALEKRSAEPRKIYELAGKMKDLSLGGVLLFPVDDKESRNKGQDLL
                     ALIVAQHRDRSNVLSGIKMAALEEGLKKIFLAAKKKKASVHLPRIGHATKGFNWYGTE
                     RLIRKHLAARGIPTYIYYFPRSKSAVLHSQSSSSSSRQLVP"
     exon            148..260
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            261..367
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            368..482
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            483..514
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            515..596
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            597..759
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            760..915
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1008
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1105
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1179
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1290
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1405
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1559
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..1725
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            1726..1874
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            1875..2038
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            2039..2241
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            2242..2340
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            2341..2411
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            2412..2526
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            2527..2635
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     exon            2636..2967
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2948..2953
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /note="hexamer: AATAAA"
     polyA_site      2967
                     /gene="CHD1L"
                     /gene_synonym="ALC1; CHDL"
                     /note="major polyA site"
ORIGIN      
        1 gcggggcctc taccggcccg atggagcgcg cgggcgctac tagccgcggg ggccaagccc
       61 ctggcttctt actgcggctt catactgagg gccgagccga ggcggcgcgg gtgcaggagc
      121 aggacttacg gcagtggggg ctgacaggga ttcacctacg ctcttaccag ctggagggag
      181 taaactggct cgcccagcgc ttccattgtc agaatggctg tatcctggga gatgagatgg
      241 gcctggggaa gacctgccag actattgctc tcttcattta tttggcagga agattaaatg
      301 atgaagggcc atttctgatt ctttgtccct tgtctgtttt gagcaactgg aaagaagaaa
      361 tgcagagatt tgctccaggt ctttcctgtg taacatatgc aggcgacaag gaggaaagag
      421 cctgccttca gcaagacctg aaacaggagt cacgttttca tgtgctactg actacctatg
      481 agatttgctt gaaagatgca tcatttctaa aatcattccc ttggagtgtt cttgttgtgg
      541 atgaagctca caggttgaaa aaccaaagct ccctgctgca taagaccttg tcagagttct
      601 cagtagtctt cagtctcctg ttgaccggaa ctcccatcca gaacagcctc caagagctct
      661 actccctcct cagttttgtg gagcctgatc tcttttccaa ggaagaggtg ggagatttta
      721 ttcaacgcta ccaggatatt gagaaagaat ctgagtcagc aagtgaactg cacaaactct
      781 tgcagccatt tctgctgagg cgagtgaaag ctgaggtagc tacagagctt cccaagaaga
      841 cagaagtagt gatataccat ggcatgtcag cattgcagaa gaaatactac aaggccattt
      901 tgatgaaaga cctagatgca tttgaaaatg agacggcaaa gaaagttaaa ctacagaaca
      961 ttttgtccca gcttcgaaag tgtgtggatc acccatattt gtttgatggt gtggagccgg
     1021 agccttttga agttggagac cacctgactg aggctagtgg gaagcttcac ctgctggata
     1081 agctactagc attcctgtat tctgggggcc atcgggtttt acttttctcc caaatgaccc
     1141 agatgttgga tattctccaa gactatatgg attacagagg ctacagctat gagcgtgtgg
     1201 atggttctgt gagaggagaa gagagacact tggccattaa gaactttgga cagcagccca
     1261 ttttcgtttt tctcctgagt actagggcag gtggagttgg catgaactta acagcagcag
     1321 atactgtgat ttttgttgac agtgacttta atcctcagaa tgacttgcaa gcagctgcca
     1381 gggctcatcg cattggccaa aacaagtctg ttaaagttat tcggctgatt ggtcgagaca
     1441 ctgtggaaga aatagtctat aggaaagcag cctccaaact gcagctcacc aacatgatca
     1501 tagaaggagg ccattttact ctgggagccc agaaacccgc tgccgatgct gacctccagt
     1561 tgagtgagat actcaaattt ggtttggata aactgctggc ctctgagggg agcaccatgg
     1621 atgaaataga cctggagtcc atcctgggag aaacaaaaga tggccagtgg gtctctgatg
     1681 ccttgcctgc agcagaagga gggagcagag atcaagagga aggaaaaaat catatgtact
     1741 tatttgaagg taaagattat tctaaagagc ccagtaagga agacagaaaa tcatttgaac
     1801 aactggtaaa ccttcagaaa acccttttgg agaaagctag tcaagagggc cgatcactcc
     1861 gaaataaagg cagtgttctc atcccaggcc ttgtggaggg atctaccaaa aggaagcggg
     1921 ttctgagtcc agaagagctg gaggacagac agaagaaaag acaagaagca gctgccaaga
     1981 gaaggagact catagaggag aagaagaggc aaaaggaaga ggctgaacat aagaaaaaga
     2041 tggcctggtg ggaatccaac aattaccagt ccttctgcct gccctctgag gagagcgagc
     2101 cagaggacct tgagaatggg gaagagagct ctgctgagct ggattaccaa gacccagatg
     2161 ctacttccct caagtacgtt agtggtgatg tcacccaccc tcaggctggg gccgaggatg
     2221 ctctcattgt gcactgcgta gatgactctg gccactgggg cagaggtggt ttatttacag
     2281 ctctggaaaa gcgatccgct gagccaagaa aaatatatga gctggctggg aaaatgaaag
     2341 acctgagttt gggaggtgtc cttttatttc ctgttgatga taaagaatca agaaacaaag
     2401 ggcaagattt gttggccttg attgtggctc agcatcgtga tcgttccaat gtcctgtctg
     2461 gcattaagat ggcagcccta gaagagggcc tgaagaagat atttttagca gcaaaaaaga
     2521 agaaagcaag tgttcatctt ccacgtattg gacatgccac gaaaggtttt aactggtatg
     2581 gtactgagcg acttattcgg aaacatctgg ctgcaagagg catcccaact tacatatatt
     2641 attttcctag aagcaagtct gctgtccttc attcacagtc ttcatcttcc tcctcaagac
     2701 agctggtgcc ttaagaattg gcccagcctc agatcctgtc tttagcaacc agctaatatt
     2761 tacccagagg tactgcaata gagtatttca aaatggaatc aggatctggt gggcctcaga
     2821 aattgtctct tttctgagtt tcagtttggt tctcctggat gttttgctct gttttggtac
     2881 ctgtaatata gggaaacaca actttttttg ggaaagccct ttgaccccag cttgctagtt
     2941 gcataataat aaattttctg ttcctaa
//
