CDIN1
CDAN1-interacting nuclease 1
Also known as: C15orf41, CDIN1_HUMAN, FLJ22851, HH114, MGC11326
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2V0
- Gene
- CDIN1
- Ensembl
- ENSG00000186073
- Chromosome
- 15
- Canonical length
- 281 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
281 residues, UniProt reviewed canonical sequence.
>Q9Y2V0|CDIN1
1 MILTKAQYDE IAQCLVSVPP TRQSLRKLKQ RFPSQSQATL LSIFSQEYQK HIKRTHAKHH
61 TSEAIESYYQ RYLNGVVKNG AAPVLLDLAN EVDYAPSLMA RLILERFLQE HEETPPSKSI
121 INSMLRDPSQ IPDGVLANQV YQCIVNDCCY GPLVDCIKHA IGHEHEVLLR DLLLEKNLSF
181 LDEDQLRAKG YDKTPDFILQ VPVAVEGHII HWIESKASFG DECSHHAYLH DQFWSYWNRF
241 GPGLVIYWYG FIQELDCNRE RGILLKACFP TNIVTLCHSI ALocalizationUniProt · AlphaFold · HPA
Whether an antibody against CDIN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 74 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 74 nTPM
- tongue: 32 nTPM
- skeletal muscle: 11 nTPM
- esophagus: 8.9 nTPM
- retina: 8.9 nTPM
- smooth muscle: 8.9 nTPM
Single-cell type
- cardiomyocytes: 1,645 nCPM
- thymic myoid cells: 423 nCPM
- myonuclei: 292 nCPM
- prostatic hillock cells: 208 nCPM
- early spermatids: 207 nCPM
- late spermatids: 204 nCPM
Immune cell
- T-reg: 5.2 nTPM
- NK-cell: 3.4 nTPM
- gdT-cell: 2.6 nTPM
- memory CD8 T-cell: 2.4 nTPM
- naive CD4 T-cell: 2.3 nTPM
- MAIT T-cell: 2.2 nTPM
Brain region
- basal ganglia: 18 nTPM
- white matter: 11 nTPM
- pons: 11 nTPM
- cerebellum: 10 nTPM
- medulla oblongata: 9.6 nTPM
- hypothalamus: 8.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CDIN1.
Disease | AllUniProt
Conditions CDIN1 is implicated in, by any mechanism.
- Anemia, congenital dyserythropoietic, 1B (CDAN1B) MIM:615631
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 143 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital dyserythropoietic anemia type type 1B
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.06
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.39
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- CDAN1-interacting nuclease 1
- Protein of unknown function TPD sequence-motif
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CDIN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CDIN1 as an antibody target. Whether an autoantibody or antibody against CDIN1 could matter depends on whether native CDIN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CDIN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CDIN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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