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    CCDC112 coiled-coil domain containing 112 [ Homo sapiens (human) ]

    Gene ID: 153733, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC112provided by HGNC
    Official Full Name
    coiled-coil domain containing 112provided by HGNC
    Primary source
    HGNC:HGNC:28599
    See related
    Ensembl:ENSG00000164221 AllianceGenome:HGNC:28599
    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
    MBC1
    Summary
    Located in centriolar satellite. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 14.0), brain (RPKM 2.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC112 in Genome Data Viewer
    Location:
    5q22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (115267190..115296654, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (115780514..115809978, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (114602887..114632351, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16247 Neighboring gene protein geranylgeranyltransferase type I subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22927 Neighboring gene ribosomal protein S2 pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16248 Neighboring gene uncharacterized LOC105379129 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 15 Neighboring gene NANOG hESC enhancer GRCh37_chr5:114693885-114694386 Neighboring gene NANOG hESC enhancer GRCh37_chr5:114695934-114696435 Neighboring gene uncharacterized LOC105379130 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:114704953-114705456 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:114705457-114705960

    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. Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate Transition during Human Spermatogenesis. Wang M, et al. Cell Stem Cell, 2018 Oct 4. PMID 30174296
    2. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. Dho SE, et al. Sci Rep, 2019 Aug 28. PMID 31462741, Free PMC Article
    3. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. Van Quickelberghe E, et al. Sci Data, 2018 Dec 18. PMID 30561431, Free PMC Article
    4. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
    5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    • MGC39633

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 112
    Names
    mutated in bladder cancer 1
    mutated in bladder cancer protein 1

    NCBI Reference Sequences (RefSeq)

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    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_001040440.3 → NP_001035530.1  coiled-coil domain-containing protein 112 isoform 1

      See identical proteins and their annotated locations for NP_001035530.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AJ580807, BM873447, BM975079, DB451908
      Consensus CDS
      CCDS34213.1
      UniProtKB/Swiss-Prot
      Q8NEF3
      Related
      ENSP00000368931.5, ENST00000379611.10
      Conserved Domains (1) summary
      COG0419
      Location:75 → 487
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    2. NM_001375896.1 → NP_001362825.1  coiled-coil domain-containing protein 112 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC008494
      Conserved Domains (1) summary
      COG0419
      Location:75 → 448
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    3. NM_001375897.1 → NP_001362826.1  coiled-coil domain-containing protein 112 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008494
      Consensus CDS
      CCDS93761.1
      UniProtKB/TrEMBL
      D6RF76
      Related
      ENSP00000424876.1, ENST00000506442.5
      Conserved Domains (1) summary
      PRK12704
      Location:217 → 368
      PRK12704; phosphodiesterase; Provisional

    4. NM_001375898.1 → NP_001362827.1  coiled-coil domain-containing protein 112 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008494
      Consensus CDS
      CCDS4117.1
      UniProtKB/Swiss-Prot
      Q6A334, Q8NEF3
      Conserved Domains (1) summary
      PTZ00121
      Location:177 → 396
      PTZ00121; MAEBL; Provisional

    5. NM_001375899.1 → NP_001362828.1  coiled-coil domain-containing protein 112 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008494
      Consensus CDS
      CCDS4117.1
      UniProtKB/Swiss-Prot
      Q6A334, Q8NEF3
      Conserved Domains (1) summary
      PTZ00121
      Location:177 → 396
      PTZ00121; MAEBL; Provisional

    6. NM_152549.3 → NP_689762.2  coiled-coil domain-containing protein 112 isoform 2

      See identical proteins and their annotated locations for NP_689762.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate exon at its 5' end, compared to variant 1, which produces a unique 5' UTR and causes translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      BC031242, BM873447, CX786155, DB455340
      Consensus CDS
      CCDS4117.1
      UniProtKB/Swiss-Prot
      Q6A334, Q8NEF3
      Related
      ENSP00000378925.4, ENST00000395557.4
      Conserved Domains (1) summary
      PTZ00121
      Location:177 → 396
      PTZ00121; MAEBL; Provisional

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      115267190..115296654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416827.1 → XP_047272783.1  coiled-coil domain-containing protein 112 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      115780514..115809978 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351836.1 → XP_054207811.1  coiled-coil domain-containing protein 112 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEF3.2 GenPept UniProtKB/Swiss-Prot:Q8NEF3

    Gene LinkOut

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

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