DEUP1 (deuterosome assembly protein 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
159989
Gene name Gene Name - the full gene name approved by the HGNC.
Deuterosome assembly protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DEUP1
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC67
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q21
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 29892012, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IBA
GO:0007099 Process Centriole replication IBA
GO:0030030 Process Cell projection organization IEA
Other IDs Other 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
617148 26344 ENSG00000165325
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q05D60
Protein name Deuterosome assembly protein 1 (Coiled-coil domain-containing protein 67)
Protein function Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17045 CEP63 11 → 280 Centrosomal protein of 63 kDa Coiled-coil
Sequence 
MENQAHNTMGTSPCEAELQELMEQIDIMVSNKKMDWERKMRALETRLDLRDQELANAQTC
LDQKGQEVGLLRQKLDSLEKCNLAMTQNYEGQLQSLKAQFSKLTNNFEKLRLHQMKQNKV
PRKELPHLKEEIPFELSNLNQKLEEFRAKSREWDKQEILYQTHLISLDAQQKLLSEKCNQ
FQKQAQSYQTQLNGKKQCLEDSSSEIPRLICDPDPNCEINERDEFIIEKLKSAVNEIALS
RNKLQDENQKLLQELKMYQRQCQAMEAGLSEVKSELQSRDDLLRIIEMERLQLHRELLKI
GECQNAQGNKTRLESSYLPSIKEPERKIKELFSVMQDQPNHEKELNKIRSQLQQVEEYHN
SEQERMRNEISDLTEELHQKEITIATVTKKAALLEKQLKMELEIKEKMLAKQKVSDMKYK
AVRTENTHLKGMMGDLDPGEYMSMDFTNREQSRHTSINKLQYENERLRNDLAKLHVNGKS
TWTNQNTYEETGRYAYQSQIKVEQNEERLSHDCEPNRSTMPPLPPSTFQAKEMTSPLVSD
DDVFPLSPPDMSFPASLAAQHFLLEEEKRAKELEKLLNTHIDELQRHTEFTLNKYSKLKQ
NRHI
Sequence length 604
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 32055034
Death Associate 25238935
Inflammation Associate 28355295
Lymphatic Metastasis Inhibit 26716505
Neoplasm Metastasis Associate 25238935
Neoplasms Inhibit 26716505
Precancerous Conditions Stimulate 31081096
Prostatic Neoplasms Associate 25238935, 34417538
Thyroid Cancer Papillary Inhibit 26716505
Thyroid Cancer Papillary Associate 31081096