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

Gene ID: 84318, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 7.0), lymph node (RPKM 3.3) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
12p13.33
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (389347..442642)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (386201..438211)
105.20220307 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
  • 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 (33) citations in PubMed

GeneRIFs: Gene References Into Functions

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 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)

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

  • 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_2023_10

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

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

Chemical Information
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