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CDAN1 codanin 1 [ Homo sapiens (human) ]

Gene ID: 146059, updated on 17-Jan-2022

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
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Genomic context

See CDAN1 in Genome Data Viewer
Location:
15q15.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20211119 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 
involved_in chromatin organization IBA
Inferred from Biological aspect of Ancestor
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
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_138477.4NP_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 109.20211119

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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