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

Gene ID: 153733, updated on 4-Jul-2021

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
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
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Genomic context

See CCDC112 in Genome Data Viewer
Location:
5q22.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (115267190..115296755, complement)
105.20201022 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 protein geranylgeranyltransferase type I subunit beta Neighboring gene ribosomal protein S2 pseudogene 26 Neighboring gene uncharacterized LOC105379129 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 15 Neighboring gene uncharacterized LOC105379130 Neighboring gene catenin alpha 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 

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)

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

    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 precursor

    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
    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
    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
    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
    Q8NEF3
    Related
    ENSP00000378925.4, ENST00000395557.4
    Conserved Domains (1) summary
    PTZ00121
    Location:177396
    PTZ00121; MAEBL; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    115267190..115296755 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001742018.1 RNA Sequence

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