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    XNDC1N XRCC1 N-terminal domain containing 1, N-terminal like [ Homo sapiens (human) ]

    Gene ID: 100133315, updated on 10-Dec-2024

    Summary

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    Official Symbol
    XNDC1Nprovided by HGNC
    Official Full Name
    XRCC1 N-terminal domain containing 1, N-terminal likeprovided by HGNC
    Primary source
    HGNC:HGNC:54661
    See related
    Ensembl:ENSG00000254469 AllianceGenome:HGNC:54661
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable damaged DNA binding activity. Predicted to be involved in single strand break repair. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See XNDC1N in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (71865509..71928594, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (71792417..71855483, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71576555..71639640, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene XNDC1N-ZNF705EP-ALG1L9P readthrough Neighboring gene RNA, 5S ribosomal pseudogene 342 Neighboring gene MPRA-validated peak1338 silencer Neighboring gene defensin beta 130C (pseudogene) Neighboring gene defensin beta 131B Neighboring gene olfactory receptor family 7 subfamily E member 128 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 126 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71660091-71661028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71661029-71661964 Neighboring gene ring finger protein 121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5175 Neighboring gene interleukin 18 binding protein Neighboring gene nuclear mitotic apparatus protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification of two distinct genes at the vertebrate TRPC2 locus and their characterisation in a marsupial and a monotreme. Frankenberg S, et al. BMC Mol Biol, 2011 Aug 19. PMID 21854574, Free PMC Article
    2. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough XNDC1N-ZNF705EP-ALG1L9P

    Readthrough gene: XNDC1N-ZNF705EP-ALG1L9P, Included gene: ALG1L9P, Included gene: ZNF705EP

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in single strand break repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein XNDC1N
    Names
    XRCC1 N-terminal domain containing 1-like protein
    putative short transient receptor potential channel 2-like protein
    trpC2-like protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001375847.2 → NP_001362776.1  protein XNDC1N isoform 1

      Status: VALIDATED

      Source sequence(s)
      AP002490, AP002495
      Consensus CDS
      CCDS91528.1
      UniProtKB/Swiss-Prot
      Q6ZNB5
      UniProtKB/TrEMBL
      A0A7P0Z4L6, E9PQ18
      Related
      ENSP00000506430.1, ENST00000679412.2
      Conserved Domains (1) summary
      pfam01834
      Location:1 → 150
      XRCC1_N; XRCC1 N terminal domain

    2. NM_001375848.2 → NP_001362777.1  protein XNDC1N isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP002490, AP002495
      UniProtKB/TrEMBL
      A0A8Q3WLL2
      Conserved Domains (1) summary
      pfam01834
      Location:1 → 150
      XRCC1_N; XRCC1 N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      71865509..71928594 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      71792417..71855483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNB5.2 GenPept UniProtKB/Swiss-Prot:Q6ZNB5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials