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

Gene ID: 153733, updated on 2-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
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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 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

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

  • 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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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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