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    CDAN1 codanin 1 [ Homo sapiens (human) ]

    Gene ID: 146059, updated on 17-Sep-2024

    Summary

    Official Symbol
    CDAN1provided by HGNC
    Official Full Name
    codanin 1provided by HGNC
    Primary source
    HGNC:HGNC:1713
    See related
    Ensembl:ENSG00000140326 MIM:607465; AllianceGenome:HGNC:1713
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDAN1 in Genome Data Viewer
    Location:
    15q15.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (42723544..42737128, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (40530676..40544263, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 9305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9306 Neighboring gene eukaryotic translation initiation factor 4E binding protein 2 pseudogene 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:42892996-42893612 Neighboring gene StAR related lipid transfer domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9307 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:42911331-42912096 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:42912097-42912861 Neighboring gene NANOG hESC enhancer GRCh37_chr15:42957961-42958533 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43022854-43023381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6378 Neighboring gene TTBK2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:43051195-43051957 Neighboring gene tau tubulin kinase 2 Neighboring gene Sharpr-MPRA regulatory region 5629 Neighboring gene keratin 8 pseudogene 50

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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 organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within chromatin organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_positive_effect chromatin organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in import into nucleus 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 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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
      Q6NYD0, Q7Z7L5, Q8IWY9, Q969N3
      Related
      ENSP00000348564.3, ENST00000356231.4
      Conserved Domains (1) summary
      pfam15296
      Location:784899
      Codanin-1_C; Codanin-1 C-terminus

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      42723544..42737128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254176.6XP_005254233.1  codanin-1 isoform X3

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

      Conserved Domains (1) summary
      pfam15296
      Location:792907
      Codanin-1_C; Codanin-1 C-terminus
    3. XM_011521270.3XP_011519572.1  codanin-1 isoform X1

      Conserved Domains (1) summary
      pfam15296
      Location:793908
      Codanin-1_C; Codanin-1 C-terminus
    4. XM_047432195.1XP_047288151.1  codanin-1 isoform X6

    5. XM_011521274.3XP_011519576.1  codanin-1 isoform X6

      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
    6. XM_047432193.1XP_047288149.1  codanin-1 isoform X4

    7. XM_047432194.1XP_047288150.1  codanin-1 isoform X5

    RNA

    1. XR_931757.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      40530676..40544263 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377364.1XP_054233339.1  codanin-1 isoform X2

    2. XM_054377363.1XP_054233338.1  codanin-1 isoform X1

    3. XM_054377365.1XP_054233340.1  codanin-1 isoform X3

    4. XM_054377368.1XP_054233343.1  codanin-1 isoform X6

    5. XM_054377369.1XP_054233344.1  codanin-1 isoform X6

    6. XM_054377366.1XP_054233341.1  codanin-1 isoform X4

    7. XM_054377367.1XP_054233342.1  codanin-1 isoform X5

    RNA

    1. XR_008488925.1 RNA Sequence