U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from dbVar

    • Showing Current items.

    DEUP1 deuterosome assembly protein 1 [ Homo sapiens (human) ]

    Gene ID: 159989, updated on 3-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    DEUP1provided by HGNC
    Official Full Name
    deuterosome assembly protein 1provided by HGNC
    Primary source
    HGNC:HGNC:26344
    See related
    Ensembl:ENSG00000165325 MIM:617148; AllianceGenome:HGNC:26344
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCDC67
    Summary
    Enables identical protein binding activity. Predicted to be involved in centriole replication and de novo centriole assembly involved in multi-ciliated epithelial cell differentiation. Predicted to be located in cytoplasm. Predicted to be integral component of membrane. Predicted to be active in centriole and deuterosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 5.7) See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    11q21
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (93329998..93438470)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (93252777..93354907)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (93063908..93171636)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 36 member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3834 Neighboring gene ATP synthase subunit ATP5MJ, mitochondrial-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93063547-93064048 Neighboring gene uncharacterized LOC124902734 Neighboring gene NANOG hESC enhancer GRCh37_chr11:93131833-93132334 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:93154443-93155082 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:93177550-93178122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5391 Neighboring gene single-pass membrane protein with coiled-coil domains 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93270830-93271376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3838 Neighboring gene SRP14 pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 223, pseudogene

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Characterization of the novel tumor-suppressor gene CCDC67 in papillary thyroid carcinoma. Yin DT, et al. Oncotarget, 2016 Feb 2. PMID 26716505, Free PMC Article
    2. Epigenetic alteration of CCDC67 and its tumor suppressor function in gastric cancer. Park SJ, et al. Carcinogenesis, 2012 Aug. PMID 22610074
    3. MiR-96-5p promotes the proliferation, invasion and metastasis of papillary thyroid carcinoma through down-regulating CCDC67. Liu ZM, et al. Eur Rev Med Pharmacol Sci, 2019 Apr. PMID 31081096
    4. Genome-Wide Association Study of Acute Renal Graft Rejection. Ghisdal L, et al. Am J Transplant, 2017 Jan. PMID 27272414, Free PMC Article
    5. E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6. Hazan R, et al. Mol Biol Cell, 2021 Oct 1. PMID 34260288, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6.
      Title: E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6.
    2. MiR-96-5p promotes the proliferation, invasion and metastasis of papillary thyroid carcinoma through down-regulating CCDC67.
      Title: MiR-96-5p promotes the proliferation, invasion and metastasis of papillary thyroid carcinoma through down-regulating CCDC67.
    3. Single nucleotide polymorphism in CCDC67 gene is associated with Acute Renal Graft Rejection.
      Title: Genome-Wide Association Study of Acute Renal Graft Rejection.
    4. Loss of CCDC67 is associated with papillary thyroid carcinoma.
      Title: Characterization of the novel tumor-suppressor gene CCDC67 in papillary thyroid carcinoma.
    5. suggest that CCDC67 is a putative tumor suppressor gene that is silenced in gastric cancers by promoter CpG methylation and that it may play an important role in cell signaling and migration related to tumorigenesis
      Title: Epigenetic alteration of CCDC67 and its tumor suppressor function in gastric cancer.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ25393

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in multi-ciliated epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in deuterosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in deuterosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    deuterosome assembly protein 1
    Names
    coiled-coil domain containing 67
    coiled-coil domain-containing protein 67
    deuterosome protein 1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_181645.4 → NP_857596.2  deuterosome assembly protein 1

      See identical proteins and their annotated locations for NP_857596.2

      Status: VALIDATED

      Source sequence(s)
      AK058122, BC017929, BC031247
      Consensus CDS
      CCDS44707.1
      UniProtKB/Swiss-Prot
      E9PJR5, Q05D60, Q8NEF1, Q96LL7
      UniProtKB/TrEMBL
      A0A087WVI3
      Related
      ENSP00000298050.3, ENST00000298050.9
      Conserved Domains (1) summary
      pfam17045
      Location:11 → 280
      CEP63; Centrosomal protein of 63 kDa

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      93329998..93438470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542631.3 → XP_011540933.1  deuterosome assembly protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011540933.1

      UniProtKB/TrEMBL
      A0A087WVI3
      Conserved Domains (1) summary
      pfam17045
      Location:11 → 280
      CEP63; Centrosomal protein of 63 kDa

    2. XM_047426455.1 → XP_047282411.1  deuterosome assembly protein 1 isoform X2

      UniProtKB/Swiss-Prot
      E9PJR5, Q05D60, Q8NEF1, Q96LL7

    3. XM_011542630.2 → XP_011540932.1  deuterosome assembly protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011540932.1

      UniProtKB/TrEMBL
      A0A087WVI3
      Conserved Domains (1) summary
      pfam17045
      Location:11 → 280
      CEP63; Centrosomal protein of 63 kDa

    4. XM_005273802.2 → XP_005273859.1  deuterosome assembly protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005273859.1

      UniProtKB/Swiss-Prot
      E9PJR5, Q05D60, Q8NEF1, Q96LL7
      UniProtKB/TrEMBL
      A0A087WVI3
      Related
      ENSP00000479457.1, ENST00000618031.4
      Conserved Domains (1) summary
      pfam17045
      Location:11 → 280
      CEP63; Centrosomal protein of 63 kDa

    5. XM_011542633.3 → XP_011540935.1  deuterosome assembly protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A088AWP1
      Conserved Domains (1) summary
      pfam17045
      Location:11 → 280
      CEP63; Centrosomal protein of 63 kDa

    6. XM_011542629.3 → XP_011540931.1  deuterosome assembly protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011540931.1

      UniProtKB/TrEMBL
      A0A087WVI3
      Conserved Domains (1) summary
      pfam17045
      Location:11 → 280
      CEP63; Centrosomal protein of 63 kDa

    7. XM_011542635.3 → XP_011540937.1  deuterosome assembly protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A088AWP1
      Related
      ENSP00000433537.2, ENST00000531792.5
      Conserved Domains (1) summary
      pfam17045
      Location:11 → 280
      CEP63; Centrosomal protein of 63 kDa

    8. XM_011542632.4 → XP_011540934.1  deuterosome assembly protein 1 isoform X3

      UniProtKB/TrEMBL
      Q6ZRU6
      Conserved Domains (1) summary
      pfam17045
      Location:11 → 280
      CEP63; Centrosomal protein of 63 kDa

    9. XM_047426456.1 → XP_047282412.1  deuterosome assembly protein 1 isoform X4

    10. XM_047426457.1 → XP_047282413.1  deuterosome assembly protein 1 isoform X5

    11. XM_011542637.3 → XP_011540939.1  deuterosome assembly protein 1 isoform X9

      UniProtKB/TrEMBL
      A0A0A0MTD8
      Related
      ENSP00000434635.1, ENST00000532819.5
      Conserved Domains (1) summary
      pfam17045
      Location:11 → 280
      CEP63; Centrosomal protein of 63 kDa

    12. XM_011542638.3 → XP_011540940.1  deuterosome assembly protein 1 isoform X10

      UniProtKB/TrEMBL
      E9PLX9
      Related
      ENSP00000435079.1, ENST00000525646.1
      Conserved Domains (1) summary
      PRK03918
      Location:6 → 155
      PRK03918; chromosome segregation protein; Provisional

    13. XM_011542636.3 → XP_011540938.1  deuterosome assembly protein 1 isoform X8

      Conserved Domains (1) summary
      PRK03918
      Location:6 → 155
      PRK03918; chromosome segregation protein; Provisional

    RNA

    1. XR_007062456.1 RNA Sequence

    2. XR_947798.3 RNA Sequence

    3. XR_007062457.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      93252777..93354907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367828.1 → XP_054223803.1  deuterosome assembly protein 1 isoform X1

    2. XM_054367829.1 → XP_054223804.1  deuterosome assembly protein 1 isoform X2

    3. XM_054367827.1 → XP_054223802.1  deuterosome assembly protein 1 isoform X1

    4. XM_054367830.1 → XP_054223805.1  deuterosome assembly protein 1 isoform X2

    5. XM_054367834.1 → XP_054223809.1  deuterosome assembly protein 1 isoform X6

    6. XM_054367826.1 → XP_054223801.1  deuterosome assembly protein 1 isoform X1

    7. XM_054367835.1 → XP_054223810.1  deuterosome assembly protein 1 isoform X7

    8. XM_054367831.1 → XP_054223806.1  deuterosome assembly protein 1 isoform X3

    9. XM_054367832.1 → XP_054223807.1  deuterosome assembly protein 1 isoform X4

    10. XM_054367833.1 → XP_054223808.1  deuterosome assembly protein 1 isoform X5

    11. XM_054367837.1 → XP_054223812.1  deuterosome assembly protein 1 isoform X9

    12. XM_054367838.1 → XP_054223813.1  deuterosome assembly protein 1 isoform X10

    13. XM_054367836.1 → XP_054223811.1  deuterosome assembly protein 1 isoform X8

    RNA

    1. XR_008488348.1 RNA Sequence

    2. XR_008488349.1 RNA Sequence

    3. XR_008488350.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05D60.2 GenPept UniProtKB/Swiss-Prot:Q05D60

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous