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] See more...

Aliases for CDIN1 Gene

Aliases for CDIN1 Gene

  • CDAN1 Interacting Nuclease 1 2 3
  • Chromosome 15 Open Reading Frame 41 2 5
  • Protein C15orf41 3 4
  • C15orf41 3 5
  • HH114 2 3
  • Uncharacterized Protein C15orf41 3
  • Protein HH114 4
  • MGC11326 2
  • FLJ22851 2

External Ids for CDIN1 Gene

Previous HGNC Symbols for CDIN1 Gene

  • C15orf41

Summaries for CDIN1 Gene

Entrez Gene Summary for CDIN1 Gene

  • 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]

GeneCards Summary for CDIN1 Gene

CDIN1 (CDAN1 Interacting Nuclease 1) is a Protein Coding gene. Diseases associated with CDIN1 include Anemia, Congenital Dyserythropoietic, Type Ib and Anemia, Congenital Dyserythropoietic, Type Ia.

UniProtKB/Swiss-Prot Summary for CDIN1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDIN1 Gene

Genomics for CDIN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDIN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J036580 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 606.2 +0.4 390 3.2 RNF2 CREB1 PRDM10 ZNF629 SIX5 FOXA1 LARP7 ZNF143 RBFOX2 POLR2A CDIN1 LOC751603 MEIS2
GH15J036611 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 600.3 +33.2 33189 4 ZNF629 ZSCAN4 ZNF600 SCRT2 JUND JUN FOS FOSL1 EP300 POLR3A ENSG00000261635 LOC751603 CDIN1 MEIS2
GH15J035751 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE CraniofacialAtlas 600 -828.1 -828111 1.4 CTCF TEAD4 REST RAD21 ZNF316 MAFF SMC3 MAFK MAFG IRF4 CDIN1 lnc-C15orf41-17 piR-60828 DPH6 DPH6-DT
GH15J036594 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.4 +15.2 15247 0.1 CDIN1 LOC751603 MEIS2
GH15J036577 Enhancer 0.3 Ensembl dbSUPER 605.9 -1.5 -1510 0.2 CDIN1 lnc-C15orf41-9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDIN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDIN1

Genomic Locations for CDIN1 Gene

Genomic Locations for CDIN1 Gene
chr15:36,579,611-36,810,248
(GRCh38/hg38)
Size:
230,638 bases
Orientation:
Plus strand
chr15:36,871,812-37,102,449
(GRCh37/hg19)
Size:
230,638 bases
Orientation:
Plus strand

Genomic View for CDIN1 Gene

Genes around CDIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDIN1 Gene

Proteins for CDIN1 Gene

  • Protein details for CDIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2V0-CO041_HUMAN
    Recommended name:
    Protein C15orf41
    Protein Accession:
    Q9Y2V0
    Secondary Accessions:
    • B2RD87

    Protein attributes for CDIN1 Gene

    Size:
    281 amino acids
    Molecular mass:
    32264 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH06254.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CDIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDIN1 Gene

Post-translational modifications for CDIN1 Gene

  • Ubiquitination at Lys176
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CDIN1 Gene

Domains & Families for CDIN1 Gene

Gene Families for CDIN1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CDIN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDIN1 Gene

GenScript: Design optimal peptide antigens:
  • Protein HH114 (CO041_HUMAN)
genes like me logo Genes that share domains with CDIN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CDIN1 Gene

Function for CDIN1 Gene

Molecular function for CDIN1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in erythroid cell differentiation.

Phenotypes From GWAS Catalog for CDIN1 Gene

genes like me logo Genes that share phenotypes with CDIN1: view

Human Phenotype Ontology for CDIN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDIN1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CDIN1 Gene

Localization for CDIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDIN1 Gene

Nucleus. Cytoplasm. Note=Mainly nuclear. {ECO:0000269 PubMed:31191338}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDIN1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 0
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CDIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 31191338
GO:0005737 cytoplasm IEA,IDA 31191338
genes like me logo Genes that share ontologies with CDIN1: view

Pathways & Interactions for CDIN1 Gene

PathCards logo

SuperPathways for CDIN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CDIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030218 erythrocyte differentiation IMP 31191338
genes like me logo Genes that share ontologies with CDIN1: view

No data available for Pathways by source and SIGNOR curated interactions for CDIN1 Gene

Drugs & Compounds for CDIN1 Gene

No Compound Related Data Available

Transcripts for CDIN1 Gene

mRNA/cDNA for CDIN1 Gene

10 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDIN1

Alternative Splicing Database (ASD) splice patterns (SP) for CDIN1 Gene

No ASD Table

Relevant External Links for CDIN1 Gene

GeneLoc Exon Structure for
CDIN1

Expression for CDIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDIN1

SOURCE GeneReport for Unigene cluster for CDIN1 Gene:

Hs.48348

Evidence on tissue expression from TISSUES for CDIN1 Gene

  • Heart(4.4)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with CDIN1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDIN1 Gene

Orthologs for CDIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CDIN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C15orf41 31
  • 100 (a)
OneToOne
C15H15orf41 30
  • 99.29 (n)
Dog
(Canis familiaris)
Mammalia C15orf41 31
  • 97 (a)
OneToOne
C30H15orf41 30
  • 94.9 (n)
Cow
(Bos Taurus)
Mammalia C10H15ORF41 31
  • 96 (a)
OneToOne
C10H15orf41 30
  • 93.83 (n)
Rat
(Rattus norvegicus)
Mammalia RGD1563680 30
  • 91.93 (n)
Mouse
(Mus musculus)
Mammalia BC052040 30 17 31
  • 91.58 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C15orf41 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C15orf41 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C5H15ORF41 30 31
  • 83.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C15orf41 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c15orf41 30
  • 69.16 (n)
Str.12368 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.22285 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:154061 30
  • 66.18 (n)
C17H15orf41 31
  • 65 (a)
OneToOne
wufb38f07 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG12713 30 31
  • 47.44 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005605 30
  • 46.69 (n)
Species where no ortholog for CDIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDIN1 Gene

ENSEMBL:
Gene Tree for CDIN1 (if available)
TreeFam:
Gene Tree for CDIN1 (if available)

Paralogs for CDIN1 Gene

No data available for Paralogs for CDIN1 Gene

Variants for CDIN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDIN1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
692133 Uncertain Significance: Congenital dyserythropoietic anemia type type 1B 36,579,919(+) C/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
692134 Likely Pathogenic: Congenital dyserythropoietic anemia type type 1B 36,657,840(+) A/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
692135 Likely Pathogenic: Congenital dyserythropoietic anemia type type 1B 36,709,934(+) A/C MISSENSE_VARIANT,INTRON_VARIANT
692136 Uncertain Significance: Congenital dyserythropoietic anemia type type 1B 36,709,952(+) A/G MISSENSE_VARIANT,INTRON_VARIANT
710471 Likely Benign: not provided 36,645,260(+) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CDIN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDIN1 Gene

Variant ID Type Subtype PubMed ID
esv1000709 CNV deletion 20482838
esv1525561 CNV deletion 17803354
esv1643729 CNV insertion 17803354
esv2081110 CNV deletion 18987734
esv2749571 CNV deletion 23290073
esv2749572 CNV deletion 23290073
esv3361212 CNV insertion 20981092
nsv1051232 CNV gain 25217958
nsv1138355 CNV deletion 24896259
nsv1149671 CNV duplication 26484159
nsv569197 CNV loss 21841781
nsv94945 CNV deletion 16902084
nsv976922 CNV duplication 23825009

Variation tolerance for CDIN1 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.04; 95.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDIN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDIN1 Gene

Disorders for CDIN1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CDIN1 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CDIN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CO041_HUMAN
  • Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. {ECO:0000269 PubMed:23716552, ECO:0000269 PubMed:29885034, ECO:0000269 PubMed:31191338}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with CDIN1: view

No data available for Genatlas for CDIN1 Gene

Publications for CDIN1 Gene

  1. Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. (PMID: 31191338) Russo R … Iolascon A (Frontiers in physiology 2019) 2 3 4
  2. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. (PMID: 23716552) Babbs C … Buckle VJ (Haematologica 2013) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene. (PMID: 29885034) Palmblad J … Björck E (American journal of hematology 2018) 4

No data available for Mastermind for CDIN1 Gene

Products for CDIN1 Gene

Sources for CDIN1 Gene