CDIN1 (CDAN1 interacting nuclease 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 84529
Gene name CDAN1 interacting nuclease 1
Gene symbol CDIN1
Synonyms (NCBI Gene)
C15orf41HH114
Chromosome 15
Chromosome location 15q14
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 isofor
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 31191338
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615626 26929 ENSG00000186073
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2V0
Protein name CDAN1-interacting nuclease 1 (Protein HH114)
Protein function Plays a role in erythroid cell differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14811 TPD 132 → 269 Protein of unknown function TPD sequence-motif Family
Sequence 
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHH
TSEAIESYYQRYLNGVVKNGAAPVLLDLANEVDYAPSLMARLILERFLQEHEETPPSKSI
INSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNLSF
LDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRF
GPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA
Sequence length 281
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital dyserythropoietic anemia type type 1B Likely pathogenic rs587777100, rs587777101, rs1595503440 RCV000083301
RCV000083302
RCV000853478
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CDIN1-related disorder Likely benign rs139465273, rs201451061 RCV003930560
RCV003970473
Cervical cancer Benign; Likely benign rs139444685 RCV005891436
Familial cancer of breast Benign; Likely benign rs139444685 RCV005891435
Gastric cancer Benign; Likely benign rs139444685 RCV005891438