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

Gene ID: 76380, updated on 27-Nov-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, Nov 2024]
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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See Cep112 in Genome Data Viewer
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. CEP112 coordinates translational regulation of essential fertility genes during spermiogenesis through phase separation in humans and mice. Zhang X, et al. Nat Commun, 2024 Sep 30. PMID 39349455, Free PMC Article
  2. 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
  3. 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
  4. Voltage-dependent conformational changes of Kv1.3 channels activate cell proliferation. Cidad P, et al. J Cell Physiol, 2021 Jun. PMID 33230847
  5. 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

See all (17) 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 centrosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm 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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