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    Cep112 centrosomal protein 112 [ Mus musculus (house mouse) ]

    Gene ID: 76380, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Cep112provided by MGI
    Official Full Name
    centrosomal protein 112provided by MGI
    Primary source
    MGI:MGI:1923673
    See related
    Ensembl:ENSMUSG00000020728 AllianceGenome:MGI:1923673
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ccdc46; Macoco; 1700001M19Rik; 1700029K01Rik; 8430407H02Rik
    Summary
    Predicted to act upstream of or within receptor localization to synapse. Predicted to be located in centrosome; inhibitory synapse; and plasma membrane. Human ortholog(s) of this gene implicated in spermatogenic failure 44. Orthologous to human CEP112 (centrosomal protein 112). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 9.5), CNS E11.5 (RPKM 2.3) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 E1; 11 71.83 cM
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (108316041..108751441)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (108425215..108860615)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36709 Neighboring gene STARR-positive B cell enhancer mm9_chr11:108286168-108286469 Neighboring gene STARR-positive B cell enhancer mm9_chr11:108311154-108311455 Neighboring gene apolipoprotein H Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:108346118-108346319 Neighboring gene STARR-seq mESC enhancer starr_31002 Neighboring gene centrosomal protein 112, opposite strand 1 Neighboring gene predicted gene, 51924 Neighboring gene STARR-seq mESC enhancer starr_31003 Neighboring gene olfactory receptor family 51 subfamily Q member 1B, pseudogene 1 Neighboring gene predicted gene, 53213 Neighboring gene STARR-seq mESC enhancer starr_31004 Neighboring gene centrosomal protein 112, intronic transcript Neighboring gene predicted gene, 36818 Neighboring gene predicted gene, 46298 Neighboring gene axin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification and characterisation of a Maf1/Macoco protein complex that interacts with GABAA receptors in neurons. Smith KR, et al. Mol Cell Neurosci, 2010 Aug. PMID 20417281, Free PMC Article
    2. Brn3a and Nurr1 mediate a gene regulatory pathway for habenula development. Quina LA, et al. J Neurosci, 2009 Nov 11. PMID 19906978, Free PMC Article
    3. Voltage-dependent conformational changes of Kv1.3 channels activate cell proliferation. Cidad P, et al. J Cell Physiol, 2021 Jun. PMID 33230847
    4. Complementary proteomics strategies capture an ataxin-1 interactome in Neuro-2a cells. Zhang S, et al. Sci Data, 2018 Nov 20. PMID 30457570, Free PMC Article
    5. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within receptor localization to synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in inhibitory synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein of 112 kDa
    Names
    coiled-coil domain containing 46
    coiled-coil domain-containing protein 46

    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_001373899.1 → NP_001360828.1  centrosomal protein of 112 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL645974, AL662893, AL935172, BX511139
      UniProtKB/Swiss-Prot
      Q5PR68, Q80ZN6, Q99JS4, Q9D9T1
      UniProtKB/TrEMBL
      S4R1I4
      Related
      ENSMUSP00000114569.3, ENSMUST00000130515.9
      Conserved Domains (2) summary
      TIGR02168
      Location:270 → 953
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam14846
      Location:13 → 96
      DUF4485; Domain of unknown function (DUF4485)

    2. NM_001373900.1 → NP_001360829.1  centrosomal protein of 112 kDa isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL645974, AL662893, AL935172, BX511139
      UniProtKB/TrEMBL
      A2ABQ5
      Conserved Domains (1) summary
      TIGR02168
      Location:160 → 493
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    3. NM_029586.2 → NP_083862.1  centrosomal protein of 112 kDa isoform 1

      See identical proteins and their annotated locations for NP_083862.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) has multiple differences in the coding region, compared to variant 2. The resulting protein (isoform 1) has a shorter and distinct N-terminus when it is compared to isoform 2.
      Source sequence(s)
      AK005611, BC086808
      Consensus CDS
      CCDS48967.1
      UniProtKB/TrEMBL
      Q9DAQ8
      Related
      ENSMUSP00000102335.3, ENSMUST00000106724.10

    4. NM_029606.3 → NP_083882.3  centrosomal protein of 112 kDa isoform 2

      See identical proteins and their annotated locations for NP_083882.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and it encodes the longest protein (isoform 2).
      Source sequence(s)
      AK160317, BB255707, BC086808, BY302309
      Consensus CDS
      CCDS36359.1
      UniProtKB/Swiss-Prot
      Q5PR68, Q80ZN6, Q99JS4, Q9D9T1
      UniProtKB/TrEMBL
      S4R1I4
      Related
      ENSMUSP00000050597.6, ENSMUST00000061287.12
      Conserved Domains (2) summary
      TIGR02168
      Location:270 → 953
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam14846
      Location:13 → 96
      DUF4485; Domain of unknown function (DUF4485)

    5. NM_145688.2 → NP_663721.2  centrosomal protein of 112 kDa isoform 3

      See identical proteins and their annotated locations for NP_663721.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 2. The resulting protein (isoform 3) has a shorter and distinct N-terminus when it is compared to isoform 2.
      Source sequence(s)
      AK006504, BC086808, CA464637
      Consensus CDS
      CCDS48966.1
      UniProtKB/TrEMBL
      Z4YKK6
      Related
      ENSMUSP00000102326.3, ENSMUST00000106715.8
      Conserved Domains (2) summary
      cl00459
      Location:76 → 173
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
      cl19219
      Location:18 → 125
      DUF342; Protein of unknown function (DUF342)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      108316041..108751441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246412.1 → XP_030102272.1  centrosomal protein of 112 kDa isoform X5

      UniProtKB/TrEMBL
      A2ABQ5
      Conserved Domains (1) summary
      PTZ00121
      Location:7 → 657
      PTZ00121; MAEBL; Provisional

    2. XM_006534423.4 → XP_006534486.1  centrosomal protein of 112 kDa isoform X1

      UniProtKB/TrEMBL
      J3JS86
      Conserved Domains (3) summary
      COG0419
      Location:454 → 1021
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG4372
      Location:296 → 554
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      pfam14846
      Location:89 → 172
      DUF4485; Domain of unknown function (DUF4485)

    3. XM_036157060.1 → XP_036012953.1  centrosomal protein of 112 kDa isoform X4

      UniProtKB/TrEMBL
      J3JS86
      Conserved Domains (3) summary
      PTZ00121
      Location:329 → 790
      PTZ00121; MAEBL; Provisional
      TIGR02168
      Location:585 → 933
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam14846
      Location:89 → 172
      DUF4485; Domain of unknown function (DUF4485)

    4. XM_006534424.5 → XP_006534487.1  centrosomal protein of 112 kDa isoform X2

      UniProtKB/TrEMBL
      J3JS86
      Conserved Domains (3) summary
      COG0419
      Location:439 → 1006
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG4372
      Location:281 → 539
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      pfam14846
      Location:74 → 157
      DUF4485; Domain of unknown function (DUF4485)

    5. XM_017314819.2 → XP_017170308.1  centrosomal protein of 112 kDa isoform X3

      UniProtKB/TrEMBL
      S4R1I4
      Related
      ENSMUSP00000138235.2, ENSMUST00000182729.8
      Conserved Domains (3) summary
      COG0419
      Location:428 → 995
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam14846
      Location:89 → 172
      DUF4485; Domain of unknown function (DUF4485)
      pfam12128
      Location:320 → 518
      DUF3584; Protein of unknown function (DUF3584)

    6. XM_030246414.1 → XP_030102274.1  centrosomal protein of 112 kDa isoform X7

      UniProtKB/TrEMBL
      A2ABQ5
      Conserved Domains (1) summary
      TIGR02168
      Location:160 → 493
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    7. XM_011249300.3 → XP_011247602.1  centrosomal protein of 112 kDa isoform X6

      See identical proteins and their annotated locations for XP_011247602.1

      UniProtKB/TrEMBL
      A2ABQ5
      Related
      ENSMUSP00000114627.2, ENSMUST00000133670.9
      Conserved Domains (2) summary
      PTZ00121
      Location:2 → 488
      PTZ00121; MAEBL; Provisional
      TIGR02168
      Location:267 → 600
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    8. XM_011249301.3 → XP_011247603.1  centrosomal protein of 112 kDa isoform X8

      Conserved Domains (2) summary
      PRK12704
      Location:109 → 263
      PRK12704; phosphodiesterase; Provisional
      TIGR02168
      Location:272 → 546
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5PR68.2 GenPept UniProtKB/Swiss-Prot:Q5PR68

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