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

    Gene ID: 153733, updated on 19-Sep-2024

    Summary

    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
    Expression
    Broad expression in testis (RPKM 14.0), brain (RPKM 2.9) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001040440.3NP_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:75487
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    2. NM_001375896.1NP_001362825.1  coiled-coil domain-containing protein 112 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC008494
      Conserved Domains (1) summary
      COG0419
      Location:75448
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    3. NM_001375897.1NP_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:217368
      PRK12704; phosphodiesterase; Provisional
    4. NM_001375898.1NP_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:177396
      PTZ00121; MAEBL; Provisional
    5. NM_001375899.1NP_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:177396
      PTZ00121; MAEBL; Provisional
    6. NM_152549.3NP_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:177396
      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_047416827.1XP_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_054351836.1XP_054207811.1  coiled-coil domain-containing protein 112 isoform X1