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CDIN1 (CDAN1 interacting nuclease 1)
Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84529
Gene nameGene Name - the full gene name approved by the HGNC.
CDAN1 interacting nuclease 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CDIN1
SynonymsGene synonyms aliases
C15orf41, HH114
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q14
SummarySummary of gene provided in NCBI Entrez 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 isofor
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 31191338
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 31191338
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
Gene Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Congenital dyserythropoietic anemia, type III, Anemia of inadequate production, ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 9220189, 23716552, 31191338, 29885034
Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia, Congenital dyserythropoietic anemia, type I, Congenital dyserythropoietic anemia, type II, Congenital dyserythropoietic anemia type I rs121918221, rs121918222, rs121918224, rs121918225, rs121918226, rs80338697, rs80338699, rs120074166, rs120074167, rs120074168, rs120074169, rs80338694, rs80338696, rs398124225, rs398124226, rs199939108, rs727504145, rs1555788144, rs138334226, rs1403456625, rs1600244935, rs140334403, rs1600288964 29885034, 9220189, 23716552
Unknown
Disease name Disease term dbSNP ID References
Erythroid hyperplasia Erythroid hyperplasia

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