Format

Send to:

Choose Destination
    • Showing Current items.

    CHD1L chromodomain helicase DNA binding protein 1 like [ Homo sapiens (human) ]

    Gene ID: 9557, updated on 17-Jun-2019

    Summary

    Official Symbol
    CHD1Lprovided by HGNC
    Official Full Name
    chromodomain helicase DNA binding protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:1916
    See related
    Ensembl:ENSG00000131778 MIM:613039
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALC1; CHDL
    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]
    Expression
    Ubiquitous expression in testis (RPKM 13.4), bone marrow (RPKM 10.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See CHD1L in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (147172747..147295766)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (146714291..146767447)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, variant U1 small nuclear 8 Neighboring gene NBPF member 13, pseudogene Neighboring gene protein kinase AMP-activated non-catalytic subunit beta 2 Neighboring gene protein disulfide isomerase family A member 3 pseudogene 1 Neighboring gene flavin containing dimethylaniline monoxygenase 5 Neighboring gene HNF4 motif-containing MPRA enhancer 9 Neighboring gene chaperonin containing TCP1 subunit 8 pseudogene 1 Neighboring gene ribosomal protein L7a pseudogene 15 Neighboring gene prostaglandin reductase 1 pseudogene Neighboring gene long intergenic non-protein coding RNA 624 Neighboring gene olfactory receptor family 13 subfamily Z member 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2018-08-30)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2018-08-30)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    NHGRI GWA Catalog
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Dual Incision in GG-NER, organism-specific biosystem (from REACTOME)
      Dual Incision in GG-NER, organism-specific biosystemDouble incision at the damaged DNA strand excises the oligonucleotide that contains the lesion from the open bubble. The excised oligonucleotide is ~27-30 bases long. Incision 5' to the damage site, ...
    • Formation of Incision Complex in GG-NER, organism-specific biosystem (from REACTOME)
      Formation of Incision Complex in GG-NER, organism-specific biosystemAfter the XPC complex and the UV-DDB complex bind damaged DNA, a basal transcription factor TFIIH is recruited to the nucleotide excision repair (NER) site (Volker et al. 2001, Riedl et al. 2003). DN...
    • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
      Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22530

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleotide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    chromodomain-helicase-DNA-binding protein 1-like
    Names
    amplified in liver cancer 1
    amplified in liver cancer protein 1
    NP_001243265.1
    NP_001243266.1
    NP_001243267.1
    NP_001335380.1
    NP_001335381.1
    NP_001335382.1
    NP_001335383.1
    NP_001335384.1
    NP_001335385.1
    NP_001335386.1
    NP_001335387.1
    NP_001335388.1
    NP_001335389.1
    NP_001335390.1
    NP_001335391.1
    NP_001335392.1
    NP_001335393.1
    NP_001335394.1
    NP_001335395.1
    NP_004275.4
    NP_078844.2
    XP_024306817.1
    XP_024306818.1
    XP_024306819.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052905.1 RefSeqGene

      Range
      74448..127573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256336.3NP_001243265.1  chromodomain-helicase-DNA-binding protein 1-like isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MSH9
      Conserved Domains (5) summary
      PLN03142
      Location:16599
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd00046
      Location:15105
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd03331
      Location:616766
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      pfam00271
      Location:246359
      Helicase_C; Helicase conserved C-terminal domain
      pfam06936
      Location:546595
      Selenoprotein_S; Selenoprotein S (SelS)
    2. NM_001256337.3NP_001243266.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several exons in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 4) is shorter when it is compared to isoform 1. Variants 4 and 12-22 all encode the same isoform (4).
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    3. NM_001256338.3NP_001243267.1  chromodomain-helicase-DNA-binding protein 1-like isoform 5

      See identical proteins and their annotated locations for NP_001243267.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks several exons in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC242426
      Consensus CDS
      CCDS58021.1
      UniProtKB/Swiss-Prot
      Q86WJ1
      Related
      ENSP00000358263.3, ENST00000369259.4
      Conserved Domains (2) summary
      cd03331
      Location:512662
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:44495
      SNF2_N; SNF2 family N-terminal domain
    4. NM_001348451.2NP_001335380.1  chromodomain-helicase-DNA-binding protein 1-like isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 8, encodes isoform 6.
      Source sequence(s)
      AC241584, AC242426
      Conserved Domains (2) summary
      cd03331
      Location:644794
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1627
      SNF2_N; SNF2 family N-terminal domain
    5. NM_001348452.1NP_001335381.1  chromodomain-helicase-DNA-binding protein 1-like isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variant 7, encodes isoform 6.
      Source sequence(s)
      AC242426
      Related
      ENSP00000389031.3, ENST00000431239.6
      Conserved Domains (2) summary
      cd03331
      Location:644794
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1627
      SNF2_N; SNF2 family N-terminal domain
    6. NM_001348453.2NP_001335382.1  chromodomain-helicase-DNA-binding protein 1-like isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Conserved Domains (2) summary
      cd03331
      Location:603753
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:2586
      SNF2_N; SNF2 family N-terminal domain
    7. NM_001348454.2NP_001335383.1  chromodomain-helicase-DNA-binding protein 1-like isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENSP00000355100.6, ENST00000361293.10
      Conserved Domains (2) summary
      cd03331
      Location:564714
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:45547
      SNF2_N; SNF2 family N-terminal domain
    8. NM_001348455.2NP_001335384.1  chromodomain-helicase-DNA-binding protein 1-like isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Conserved Domains (2) summary
      cd03331
      Location:553703
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:2536
      SNF2_N; SNF2 family N-terminal domain
    9. NM_001348456.2NP_001335385.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 4 and 13-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    10. NM_001348457.2NP_001335386.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 4, 12, and 14-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    11. NM_001348458.2NP_001335387.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 4, 12-13, and 15-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    12. NM_001348459.2NP_001335388.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 4, 12-14, and 16-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    13. NM_001348460.2NP_001335389.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 4, 12-15, and 17-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    14. NM_001348461.2NP_001335390.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 4, 12-16, and 18-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    15. NM_001348462.2NP_001335391.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 4, 12-17, and 19-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    16. NM_001348463.2NP_001335392.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 4, 12-18, and 20-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    17. NM_001348464.2NP_001335393.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 4, 12-19 and 21-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    18. NM_001348465.2NP_001335394.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 4, 12-20 and 22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    19. NM_001348466.2NP_001335395.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 4 and 12-21, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      A0A0A0MRH8
      Conserved Domains (2) summary
      cd03331
      Location:435585
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1418
      SNF2_N; SNF2 family N-terminal domain
    20. NM_004284.6NP_004275.4  chromodomain-helicase-DNA-binding protein 1-like isoform 1

      See identical proteins and their annotated locations for NP_004275.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC242426
      Consensus CDS
      CCDS927.1
      UniProtKB/Swiss-Prot
      Q86WJ1
      Related
      ENSP00000358262.4, ENST00000369258.8
      Conserved Domains (2) summary
      cd03331
      Location:716866
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:46699
      SNF2_N; SNF2 family N-terminal domain
    21. NM_024568.4NP_078844.2  chromodomain-helicase-DNA-binding protein 1-like isoform 3

      See identical proteins and their annotated locations for NP_078844.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses a different splice site in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1. Variants 3 and 9 both encode the same isoform (3).
      Source sequence(s)
      AC242426
      Conserved Domains (2) summary
      cd03331
      Location:603753
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:2586
      SNF2_N; SNF2 family N-terminal domain

    RNA

    1. NR_046070.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay.(NMD).
      Source sequence(s)
      AC242426
      Related
      ENST00000467213.5
    2. NR_145681.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652161.1
    3. NR_145682.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000650721.1
    4. NR_145683.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000651410.1
    5. NR_145684.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000650828.1
    6. NR_145685.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
    7. NR_145686.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000651407.1
    8. NR_145687.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
    9. NR_145688.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
    10. NR_145689.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652616.1
    11. NR_145690.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652346.1
    12. NR_145691.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
    13. NR_145692.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652494.1
    14. NR_145693.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000488864.5
    15. NR_145694.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652486.1
    16. NR_145695.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000651207.1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      147172747..147295766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451049.1XP_024306817.1  chromodomain-helicase-DNA-binding protein 1-like isoform X1

      Conserved Domains (2) summary
      cd03331
      Location:289439
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1272
      SNF2_N; SNF2 family N-terminal domain
    2. XM_024451050.1XP_024306818.1  chromodomain-helicase-DNA-binding protein 1-like isoform X1

      Conserved Domains (2) summary
      cd03331
      Location:289439
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1272
      SNF2_N; SNF2 family N-terminal domain
    3. XM_024451051.1XP_024306819.1  chromodomain-helicase-DNA-binding protein 1-like isoform X1

      Related
      ENSP00000498899.1, ENST00000652587.1
      Conserved Domains (2) summary
      cd03331
      Location:289439
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1272
      SNF2_N; SNF2 family N-terminal domain

    RNA

    1. XR_001737550.2 RNA Sequence

      Related
      ENST00000651820.1
    Support Center