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

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

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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

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