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    CDAN1 codanin 1 [ Homo sapiens (human) ]

    Gene ID: 146059, updated on 4-Jul-2021

    Summary

    Official Symbol
    CDAN1provided by HGNC
    Official Full Name
    codanin 1provided by HGNC
    Primary source
    HGNC:HGNC:1713
    See related
    Ensembl:ENSG00000140326 MIM:607465
    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
    DLT; CDA1; CDAI; CDAN1A; PRO1295
    Summary
    This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]
    Expression
    Ubiquitous expression in ovary (RPKM 7.8), testis (RPKM 5.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CDAN1 in Genome Data Viewer
    Location:
    15q15.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (42723544..42737133, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43015742..43029326, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4E binding protein 2 pseudogene 2 Neighboring gene MYL12B pseudogene 1 Neighboring gene StAR related lipid transfer domain containing 9 Neighboring gene tau tubulin kinase 2 Neighboring gene keratin 8 pseudogene 50 Neighboring gene farnesyl diphosphate synthase pseudogene 4

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within chromatin organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endomembrane system IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    codanin-1
    Names
    congenital dyserythropoietic anemia, type I
    discs lost homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012491.1 RefSeqGene

      Range
      5092..18676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1164

    mRNA and Protein(s)

    1. NM_138477.4NP_612486.2  codanin-1

      See identical proteins and their annotated locations for NP_612486.2

      Status: REVIEWED

      Source sequence(s)
      AC090510, AF525398, BC001092, BC052568, BE884119, HY112237
      Consensus CDS
      CCDS32209.1
      UniProtKB/Swiss-Prot
      Q8IWY9
      Related
      ENSP00000348564.3, ENST00000356231.4
      Conserved Domains (1) summary
      pfam15296
      Location:784899
      Codanin-1_C; Codanin-1 C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      42723544..42737133 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521270.2XP_011519572.1  codanin-1 isoform X1

      Conserved Domains (1) summary
      pfam15296
      Location:793908
      Codanin-1_C; Codanin-1 C-terminus
    2. XM_005254176.5XP_005254233.1  codanin-1 isoform X4

      Conserved Domains (1) summary
      pfam15296
      Location:785900
      Codanin-1_C; Codanin-1 C-terminus
    3. XM_011521271.2XP_011519573.1  codanin-1 isoform X2

      Conserved Domains (1) summary
      pfam15296
      Location:792907
      Codanin-1_C; Codanin-1 C-terminus
    4. XM_011521274.2XP_011519576.1  codanin-1 isoform X3

      See identical proteins and their annotated locations for XP_011519576.1

      Conserved Domains (1) summary
      pfam15296
      Location:448563
      Codanin-1_C; Codanin-1 C-terminus

    RNA

    1. XR_001751105.1 RNA Sequence

    2. XR_001751104.1 RNA Sequence

      Related
      ENST00000643434.1
    3. XR_931757.2 RNA Sequence

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