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    CCDC77 coiled-coil domain containing 77 [ Homo sapiens (human) ]

    Gene ID: 84318, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CCDC77provided by HGNC
    Official Full Name
    coiled-coil domain containing 77provided by HGNC
    Primary source
    HGNC:HGNC:28203
    See related
    Ensembl:ENSG00000120647 AllianceGenome:HGNC:28203
    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
    Summary
    Located in centrosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.0), lymph node (RPKM 3.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC77 in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (389347..442642)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (386201..438211)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (498513..551808)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 6 member 13 Neighboring gene uncharacterized LOC102723544 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:415875-417074 Neighboring gene lysine demethylase 5A Neighboring gene Sharpr-MPRA regulatory region 4015 Neighboring gene uncharacterized LOC105369594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5778 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:511068-511620 Neighboring gene Sharpr-MPRA regulatory region 4380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:568273-569256 Neighboring gene uncharacterized LOC124902853 Neighboring gene beta-1,4-N-acetyl-galactosaminyltransferase 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:610726-611441 Neighboring gene uncharacterized LOC124902852

    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 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. Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Wheeler E, et al. Nat Genet, 2013 May. PMID 23563609, Free PMC Article
    2. Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. Rodriguez-Calado S, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674791, Free PMC Article
    3. Tripartite motif-containing protein 11 promotes hepatocellular carcinogenesis through ubiquitin-proteasome-mediated degradation of pleckstrin homology domain leucine-rich repeats protein phosphatase 1. Yang J, et al. Hepatology, 2022 Sep. PMID 34767673
    4. The E3 ubiquitin ligase APC/C(C)(dh1) degrades MCPH1 after MCPH1-βTrCP2-Cdc25A-mediated mitotic entry to ensure neurogenesis. Liu X, et al. EMBO J, 2017 Dec 15. PMID 29150431, Free PMC Article
    5. USP7 Regulates Cytokinesis through FBXO38 and KIF20B. Georges A, et al. Sci Rep, 2019 Feb 25. PMID 30804394, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC13183

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 77

    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_001130146.2 → NP_001123618.1  coiled-coil domain-containing protein 77 isoform b

      See identical proteins and their annotated locations for NP_001123618.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform.
      Source sequence(s)
      AC005844, BC006444, CX784327, DA711064
      Consensus CDS
      CCDS44781.1
      UniProtKB/TrEMBL
      F5H0W5
      Related
      ENSP00000412925.2, ENST00000412006.6
      Conserved Domains (1) summary
      TIGR02168
      Location:60 → 295
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. NM_001130147.2 → NP_001123619.1  coiled-coil domain-containing protein 77 isoform b

      See identical proteins and their annotated locations for NP_001123619.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform.
      Source sequence(s)
      AC005844, AK308216, BC006444, DC331633
      Consensus CDS
      CCDS44781.1
      UniProtKB/TrEMBL
      F5H0W5
      Related
      ENSP00000391870.1, ENST00000422000.5
      Conserved Domains (1) summary
      TIGR02168
      Location:60 → 295
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    3. NM_001130148.2 → NP_001123620.1  coiled-coil domain-containing protein 77 isoform b

      See identical proteins and their annotated locations for NP_001123620.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform.
      Source sequence(s)
      AC005844, BC006444, DC331633
      Consensus CDS
      CCDS44781.1
      UniProtKB/TrEMBL
      F5H0W5
      Related
      ENSP00000440554.1, ENST00000540180.5
      Conserved Domains (1) summary
      TIGR02168
      Location:60 → 295
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    4. NM_032358.4 → NP_115734.1  coiled-coil domain-containing protein 77 isoform a

      See identical proteins and their annotated locations for NP_115734.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC005844, BC006444, DA711064
      Consensus CDS
      CCDS8503.1
      UniProtKB/Swiss-Prot
      B4DDE8, Q9BR77
      Related
      ENSP00000239830.4, ENST00000239830.9
      Conserved Domains (1) summary
      TIGR00618
      Location:57 → 386
      sbcc; exonuclease SbcC

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      389347..442642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      386201..438211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BR77.1 GenPept UniProtKB/Swiss-Prot:Q9BR77

    Gene LinkOut

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