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CDIN1 CDAN1 interacting nuclease 1 [ Homo sapiens (human) ]

Gene ID: 84529, updated on 5-Mar-2024

Summary

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Official Symbol
CDIN1provided by HGNC
Official Full Name
CDAN1 interacting nuclease 1provided by HGNC
Primary source
HGNC:HGNC:26929
See related
Ensembl:ENSG00000186073 MIM:615626; AllianceGenome:HGNC:26929
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
HH114; C15orf41
Summary
This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Expression
Broad expression in heart (RPKM 18.6), urinary bladder (RPKM 3.9) and 17 other tissues See more
Orthologs
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Genomic context

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See CDIN1 in Genome Data Viewer
Location:
15q14
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (36579626..36810244)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (34385147..34615722)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (36871827..37102445)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370770 Neighboring gene VISTA enhancer hs355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9193 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:36919333-36919834 Neighboring gene tropomyosin 3 pseudogene Neighboring gene Sharpr-MPRA regulatory region 1254 Neighboring gene LARP4 pseudogene Neighboring gene tyrosylprotein sulfotransferase 2 pseudogene 1 Neighboring gene uncharacterized LOC124903466 Neighboring gene VISTA enhancer hs828 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:37045234-37045802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9194 Neighboring gene casein kinase 1 alpha 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9195 Neighboring gene small nucleolar RNA U3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:37169875-37170652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:37170653-37171430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:37172643-37173204 Neighboring gene NANOG hESC enhancer GRCh37_chr15:37173676-37174246 Neighboring gene uncharacterized LOC145845

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. Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene. Méndez M, et al. Ann Hematol, 2021 Feb. PMID 33159567
  2. Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities. Scott C, et al. Haematologica, 2021 Nov 1. PMID 33121234, Free PMC Article
  3. A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I). Shroff M, et al. Biochem J, 2020 May 29. PMID 32239177, Free PMC Article
  4. Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a. Rathe M, et al. Pediatr Blood Cancer, 2018 Mar. PMID 29049846
  5. Genetic and functional insights into CDA-I prevalence and pathogenesis. Olijnik AA, et al. J Med Genet, 2021 Mar. PMID 32518175, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic and functional insights into CDA-I prevalence and pathogenesis.
    Title: Genetic and functional insights into CDA-I prevalence and pathogenesis.
  2. Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.
    Title: Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.
  3. 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.
  4. A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I).
    Title: A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I).
  5. Mutation in C!%ORF41 gene is associated with congenital dyserythropoietic anemia.
    Title: Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia.
  6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

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

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

Clone Names

  • FLJ22851, MGC11326

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 erythrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm 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 

General protein information

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Preferred Names
CDAN1-interacting nuclease 1
Names
protein C15orf41
uncharacterized protein C15orf41

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_034055.1 RefSeqGene

    Range
    5024..235642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130010.3 → NP_001123482.1  CDAN1-interacting nuclease 1 isoform 1

    See identical proteins and their annotated locations for NP_001123482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AA581466, AL526474, BC006254, BX647650, DA467314
    Consensus CDS
    CCDS45215.1
    UniProtKB/Swiss-Prot
    B2RD87, Q9Y2V0
    Related
    ENSP00000401362.2, ENST00000437989.6
    Conserved Domains (1) summary
    pfam14811
    Location:135 → 265
    TPD; Protein of unknown function TPD sequence-motif

  2. NM_001290232.2 → NP_001277161.1  CDAN1-interacting nuclease 1 isoform 2

    See identical proteins and their annotated locations for NP_001277161.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' and 3' UTRs, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AC013640, AC019016, AC103988, AK315446
    Consensus CDS
    CCDS45216.1
    UniProtKB/Swiss-Prot
    Q9Y2V0
    Related
    ENSP00000457854.1, ENST00000562877.5
    Conserved Domains (1) summary
    pfam14811
    Location:37 → 167
    TPD; Protein of unknown function TPD sequence-motif

  3. NM_001290233.2 → NP_001277162.1  CDAN1-interacting nuclease 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple 3' exons and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-temrinus and is longer than isoform 1.
    Source sequence(s)
    AC013640, AC103988, AK026504, BC006254
    Consensus CDS
    CCDS86445.1
    UniProtKB/TrEMBL
    A0A2R8YD89
    Related
    ENSP00000493669.1, ENST00000570265.6
    Conserved Domains (1) summary
    pfam14811
    Location:135 → 241
    TPD; Protein of unknown function TPD sequence-motif

  4. NM_001321756.2 → NP_001308685.1  CDAN1-interacting nuclease 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC013640, AC019016, AC103988
    Consensus CDS
    CCDS45216.1
    UniProtKB/Swiss-Prot
    Q9Y2V0
    Conserved Domains (1) summary
    pfam14811
    Location:37 → 167
    TPD; Protein of unknown function TPD sequence-motif

  5. NM_001321757.2 → NP_001308686.1  CDAN1-interacting nuclease 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC013640, AC019016, AC103988
    Consensus CDS
    CCDS86447.1
    UniProtKB/TrEMBL
    A0A2R8Y7J6
    Related
    ENSP00000496325.1, ENST00000643612.1
    Conserved Domains (1) summary
    pfam14811
    Location:12 → 142
    TPD; Protein of unknown function TPD sequence-motif

  6. NM_001321758.2 → NP_001308687.1  CDAN1-interacting nuclease 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC013640, AC019016, AC103988
    Conserved Domains (1) summary
    pfam14811
    Location:98 → 228
    TPD; Protein of unknown function TPD sequence-motif

  7. NM_001321759.2 → NP_001308688.1  CDAN1-interacting nuclease 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC013640, AC019016, AC103988
    Consensus CDS
    CCDS45215.1
    UniProtKB/Swiss-Prot
    B2RD87, Q9Y2V0
    Related
    ENSP00000455397.1, ENST00000566621.6
    Conserved Domains (1) summary
    pfam14811
    Location:135 → 265
    TPD; Protein of unknown function TPD sequence-motif

  8. NM_001321760.2 → NP_001308689.1  CDAN1-interacting nuclease 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC013640, AC019016, AC103988
    Consensus CDS
    CCDS86446.1
    UniProtKB/TrEMBL
    A0A2R8YEZ2
    Related
    ENSP00000494718.1, ENST00000646533.1
    Conserved Domains (1) summary
    pfam14811
    Location:135 → 203
    TPD; Protein of unknown function TPD sequence-motif

  9. NM_001321761.2 → NP_001308690.1  CDAN1-interacting nuclease 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC013640, AC019016, AC103988
    Consensus CDS
    CCDS81861.1
    UniProtKB/TrEMBL
    H3BS01
    Related
    ENSP00000456477.1, ENST00000569302.6
    Conserved Domains (1) summary
    pfam14811
    Location:135 → 271
    TPD; Protein of unknown function TPD sequence-motif

  10. NM_032499.6 → NP_115888.1  CDAN1-interacting nuclease 1 isoform 2

    See identical proteins and their annotated locations for NP_115888.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' and 3' UTRs, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AA581466, AC013640, AC103988, AF114263, AL526474, BX647650, DA534917
    Consensus CDS
    CCDS45216.1
    UniProtKB/Swiss-Prot
    Q9Y2V0
    Related
    ENSP00000456736.1, ENST00000567389.5
    Conserved Domains (1) summary
    pfam14811
    Location:37 → 167
    TPD; Protein of unknown function TPD sequence-motif

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    36579626..36810244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433174.1 → XP_047289130.1  CDAN1-interacting nuclease 1 isoform X4

  2. XM_017022676.2 → XP_016878165.1  CDAN1-interacting nuclease 1 isoform X1

    Conserved Domains (1) summary
    pfam14811
    Location:103 → 199
    TPD; Protein of unknown function TPD sequence-motif

  3. XM_017022677.2 → XP_016878166.1  CDAN1-interacting nuclease 1 isoform X1

    Conserved Domains (1) summary
    pfam14811
    Location:103 → 199
    TPD; Protein of unknown function TPD sequence-motif

  4. XM_047433171.1 → XP_047289127.1  CDAN1-interacting nuclease 1 isoform X2

  5. XM_047433172.1 → XP_047289128.1  CDAN1-interacting nuclease 1 isoform X3

  6. XM_047433173.1 → XP_047289129.1  CDAN1-interacting nuclease 1 isoform X3

  7. XM_047433175.1 → XP_047289131.1  CDAN1-interacting nuclease 1 isoform X5

  8. XM_047433176.1 → XP_047289132.1  CDAN1-interacting nuclease 1 isoform X6

    UniProtKB/TrEMBL
    A0A2R8Y7J6

RNA

  1. XR_007064491.1 RNA Sequence

  2. XR_007064492.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    34385147..34615722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378997.1 → XP_054234972.1  CDAN1-interacting nuclease 1 isoform X4

  2. XM_054378995.1 → XP_054234970.1  CDAN1-interacting nuclease 1 isoform X1

  3. XM_054378996.1 → XP_054234971.1  CDAN1-interacting nuclease 1 isoform X1

  4. XM_054378998.1 → XP_054234973.1  CDAN1-interacting nuclease 1 isoform X6

    UniProtKB/TrEMBL
    A0A2R8Y7J6

RNA

  1. XR_008489019.1 RNA Sequence

  2. XR_008489020.1 RNA Sequence

  3. XR_008489021.1 RNA Sequence

  4. XR_008489022.1 RNA Sequence

  5. XR_008489023.1 RNA Sequence

  6. XR_008489024.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2V0.2 GenPept UniProtKB/Swiss-Prot:Q9Y2V0

Gene LinkOut

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