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CDAN1 codanin 1 [ Homo sapiens (human) ]

Gene ID: 146059, updated on 2-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. Tamary H, et al. Blood, 1996 Mar 1. PMID 8634422
  2. [Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis]. Wang Y, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2021 Dec 20. PMID 35012925, Free PMC Article
  3. Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy. Goede JS, et al. Ann Hematol, 2006 Sep. PMID 16767397
  4. Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1). Tamary H, et al. Eur J Haematol, 2008 Mar. PMID 18081704
  5. Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene. Ru YX, et al. Ann Hematol, 2008 Sep. PMID 18575862

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Discovering a novel pathogenic CDAN1 variant using exome sequencing and bioinformatics analysis.
    Title: Discovering a novel pathogenic CDAN1 variant using exome sequencing and bioinformatics analysis.
  2. [Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].
    Title: [Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].
  3. Genetic and functional insights into CDA-I prevalence and pathogenesis.
    Title: Genetic and functional insights into CDA-I prevalence and pathogenesis.
  4. Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation.
    Title: Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation.
  5. Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease.
    Title: Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease.
  6. Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis.
    Title: Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis.
  7. Mutation in CDAN1 gene is associated with congenital dyserythropoietic anemia.
    Title: Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia.
  8. The missense substitution in CDAN1, C15ORF41, encodes a novel restriction endonuclease in congenital dyserythropoietic anemia type I.
    Title: Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
  9. The proband with congenital dyserythropoietic anemia Iota in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T.
    Title: Congenital dyserythropoietic anemia in China: a case report from two families and a review.
  10. The authors propose that Codanin-1 acts as a negative regulator of Asf1 function in chromatin assembly.
    Title: Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 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

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

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.

Genomic

  1. NG_012491.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_138477.4 → NP_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:784 → 899
    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_005254176.6 → XP_005254233.1  codanin-1 isoform X3

    Conserved Domains (1) summary
    pfam15296
    Location:785 → 900
    Codanin-1_C; Codanin-1 C-terminus

  2. XM_011521271.3 → XP_011519573.1  codanin-1 isoform X2

    Conserved Domains (1) summary
    pfam15296
    Location:792 → 907
    Codanin-1_C; Codanin-1 C-terminus

  3. XM_011521270.3 → XP_011519572.1  codanin-1 isoform X1

    Conserved Domains (1) summary
    pfam15296
    Location:793 → 908
    Codanin-1_C; Codanin-1 C-terminus

  4. XM_047432195.1 → XP_047288151.1  codanin-1 isoform X6

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

    See identical proteins and their annotated locations for XP_011519576.1

    Conserved Domains (1) summary
    pfam15296
    Location:448 → 563
    Codanin-1_C; Codanin-1 C-terminus

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

  7. XM_047432194.1 → XP_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_054377364.1 → XP_054233339.1  codanin-1 isoform X2

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

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

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

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

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

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

RNA

  1. XR_008488925.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IWY9.4 GenPept UniProtKB/Swiss-Prot:Q8IWY9

Gene LinkOut

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