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    CEP112 centrosomal protein 112 [ Homo sapiens (human) ]

    Gene ID: 201134, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CEP112provided by HGNC
    Official Full Name
    centrosomal protein 112provided by HGNC
    Primary source
    HGNC:HGNC:28514
    See related
    Ensembl:ENSG00000154240 MIM:618980; AllianceGenome:HGNC:28514
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCDC46; MACOCO; SPGF44
    Summary
    This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
    Expression
    Broad expression in testis (RPKM 4.7), fat (RPKM 2.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP112 in Genome Data Viewer
    Location:
    17q24.1
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (65635537..66192133, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (66506157..67062904, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (63631655..64188251, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63456111-63456744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63456745-63457378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63457379-63458011 Neighboring gene long intergenic non-protein coding RNA 2563 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:63491028-63491660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63492294-63492926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63519932-63520432 Neighboring gene Sharpr-MPRA regulatory region 3713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63526146-63526660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63527688-63528200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63526661-63527173 Neighboring gene MPRA-validated peak2942 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63550543-63551315 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63551316-63552089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12611 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63568601-63569439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63579618-63580152 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63589757-63590572 Neighboring gene axin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63625333-63625832 Neighboring gene chloride intracellular channel 1 pseudogene Neighboring gene dynactin subunit 6-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12612 Neighboring gene NANOG hESC enhancer GRCh37_chr17:63786339-63786902 Neighboring gene calponin 3, acidic pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:63850976-63852175 Neighboring gene uncharacterized LOC105371867 Neighboring gene nuclear transport factor 2-like Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:63996564-63997763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64009651-64010152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64010153-64010652 Neighboring gene NANOG hESC enhancer GRCh37_chr17:64106810-64107347 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:64205560-64206125 Neighboring gene proteasome 26S subunit, non-ATPase 7 pseudogene 1 Neighboring gene apolipoprotein H

    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. Mutations in microRNA binding sites of CEP genes involved in cancer. Gopalakrishnan C, et al. Cell Biochem Biophys, 2014 Dec. PMID 25115610
    2. Blood methylomics in response to arsenic exposure in a low-exposed US population. Liu X, et al. J Expo Sci Environ Epidemiol, 2014 Mar-Apr. PMID 24368509, Free PMC Article
    3. Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype. Sha Y, et al. Clin Genet, 2020 Feb. PMID 31654588
    4. CEP proteins: the knights of centrosome dynasty. Kumar A, et al. Protoplasma, 2013 Oct. PMID 23456457
    5. Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. Paré G, et al. PLoS Genet, 2008 Jul 4. PMID 18604267, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.
      Title: Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.
    2. We report that Maf1 interacts with a novel coiled-coil domain containing protein that we have called Macoco.
      Title: Identification and characterisation of a Maf1/Macoco protein complex that interacts with GABAA receptors in neurons.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Spermatogenic failure 44
    MedGen: C5436678 OMIM: 619044 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
    EBI GWAS Catalog
    Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.
    EBI GWAS Catalog
    Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.
    EBI GWAS Catalog

    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

    • FLJ39610, MGC33887

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in receptor localization to synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in inhibitory synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein of 112 kDa
    Names
    centrosomal protein 112kDa
    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_001037325.3 → NP_001032402.1  centrosomal protein of 112 kDa isoform b

      See identical proteins and their annotated locations for NP_001032402.1

      Status: REVIEWED

      Source sequence(s)
      AA723963, AC004805, BC029524, BG531260
      Consensus CDS
      CCDS32711.1
      UniProtKB/Swiss-Prot
      Q8N8E3
      Related
      ENSP00000320592.5, ENST00000317442.12
      Conserved Domains (1) summary
      PRK12704
      Location:50 → 164
      PRK12704; phosphodiesterase; Provisional

    2. NM_001199165.4 → NP_001186094.1  centrosomal protein of 112 kDa isoform a

      See identical proteins and their annotated locations for NP_001186094.1

      Status: REVIEWED

      Source sequence(s)
      AA723963, AC004805, AC006120, AC006440, AC007716, AC087302, AC105028
      Consensus CDS
      CCDS32710.1
      UniProtKB/Swiss-Prot
      Q6PIB5, Q8N8E3, Q8NCR4, Q8NFR4
      UniProtKB/TrEMBL
      B4DR29
      Related
      ENSP00000442784.2, ENST00000535342.7
      Conserved Domains (2) summary
      pfam14846
      Location:14 → 98
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:370 → 946
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001302891.3 → NP_001289820.1  centrosomal protein of 112 kDa isoform c

      Status: REVIEWED

      Source sequence(s)
      AA723963, AC004805, AC006120, AC006440, AC007716, AC087302, AC105028
      Consensus CDS
      CCDS77093.1
      UniProtKB/TrEMBL
      A2RRR7, F5GYE8
      Related
      ENSP00000440775.1, ENST00000537949.5
      Conserved Domains (2) summary
      pfam14846
      Location:14 → 98
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:328 → 904
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_001353127.2 → NP_001340056.1  centrosomal protein of 112 kDa isoform a

      Status: REVIEWED

      Source sequence(s)
      AA723963, AC004805, AC006120, AC006440, AC007716, AC087302, AC105028
      Consensus CDS
      CCDS32710.1
      UniProtKB/Swiss-Prot
      Q6PIB5, Q8N8E3, Q8NCR4, Q8NFR4
      UniProtKB/TrEMBL
      B4DR29
      Related
      ENSP00000376522.2, ENST00000392769.6
      Conserved Domains (2) summary
      pfam14846
      Location:14 → 98
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:370 → 946
      SMC_N; RecF/RecN/SMC N terminal domain

    5. NM_001353128.2 → NP_001340057.1  centrosomal protein of 112 kDa isoform c

      Status: REVIEWED

      Source sequence(s)
      AA723963, AC004805, AC006120, AC006440, AC007716, AC087302, AC105028
      Consensus CDS
      CCDS77093.1
      UniProtKB/TrEMBL
      A2RRR7, F5GYE8
      Related
      ENSP00000516556.1, ENST00000706793.1
      Conserved Domains (2) summary
      pfam14846
      Location:14 → 98
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:328 → 904
      SMC_N; RecF/RecN/SMC N terminal domain

    6. NM_001353129.2 → NP_001340058.1  centrosomal protein of 112 kDa isoform d

      Status: REVIEWED

      Source sequence(s)
      AA723963, AC004805, AC006120, AC006440, AC007716, AC087302, AC105028
      UniProtKB/TrEMBL
      B4DR29
      Related
      ENSP00000516558.1, ENST00000706795.1
      Conserved Domains (2) summary
      pfam14846
      Location:14 → 98
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:371 → 947
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_126542.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AA723963, AA781351, AC004805, AK299075, BC029524

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      65635537..66192133 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435529.1 → XP_047291485.1  centrosomal protein of 112 kDa isoform X6

    2. XM_047435528.1 → XP_047291484.1  centrosomal protein of 112 kDa isoform X5

    3. XM_047435530.1 → XP_047291486.1  centrosomal protein of 112 kDa isoform X6

    4. XM_005257119.6 → XP_005257176.1  centrosomal protein of 112 kDa isoform X1

      See identical proteins and their annotated locations for XP_005257176.1

      UniProtKB/TrEMBL
      B4DR29
      Conserved Domains (2) summary
      pfam14846
      Location:14 → 98
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:371 → 947
      SMC_N; RecF/RecN/SMC N terminal domain

    5. XM_024450634.2 → XP_024306402.1  centrosomal protein of 112 kDa isoform X8

      Conserved Domains (1) summary
      cl25732
      Location:140 → 716
      SMC_N; RecF/RecN/SMC N terminal domain

    6. XM_011524465.3 → XP_011522767.1  centrosomal protein of 112 kDa isoform X8

      Conserved Domains (1) summary
      cl25732
      Location:140 → 716
      SMC_N; RecF/RecN/SMC N terminal domain

    7. XM_005257125.4 → XP_005257182.1  centrosomal protein of 112 kDa isoform X9

      UniProtKB/TrEMBL
      B3KUW3
      Conserved Domains (2) summary
      COG0419
      Location:63 → 639
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cl19219
      Location:386 → 465
      DUF342; Protein of unknown function (DUF342)

    8. XM_011524466.3 → XP_011522768.1  centrosomal protein of 112 kDa isoform X10

      UniProtKB/TrEMBL
      B3KUW3
      Conserved Domains (2) summary
      COG0419
      Location:18 → 594
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cl19219
      Location:341 → 420
      DUF342; Protein of unknown function (DUF342)

    9. XM_011524467.3 → XP_011522769.1  centrosomal protein of 112 kDa isoform X11

      UniProtKB/TrEMBL
      B3KUW3
      Conserved Domains (1) summary
      cl19219
      Location:288 → 367
      DUF342; Protein of unknown function (DUF342)

    10. XM_005257126.5 → XP_005257183.1  centrosomal protein of 112 kDa isoform X12

      UniProtKB/TrEMBL
      B3KUW3
      Conserved Domains (1) summary
      cl19219
      Location:285 → 364
      DUF342; Protein of unknown function (DUF342)

    11. XM_047435527.1 → XP_047291483.1  centrosomal protein of 112 kDa isoform X4

    12. XM_047435526.1 → XP_047291482.1  centrosomal protein of 112 kDa isoform X3

    13. XM_047435525.1 → XP_047291481.1  centrosomal protein of 112 kDa isoform X2

    14. XM_006721744.4 → XP_006721807.1  centrosomal protein of 112 kDa isoform X7

      Conserved Domains (4) summary
      COG0419
      Location:252 → 726
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam14846
      Location:13 → 98
      DUF4485; Domain of unknown function (DUF4485)
      cd16269
      Location:683 → 694
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:515 → 717
      GBP_C; Guanylate-binding protein, C-terminal domain

    RNA

    1. XR_007065281.1 RNA Sequence

    2. XR_007065280.1 RNA Sequence

    3. XR_007065282.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      66506157..67062904 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315324.1 → XP_054171299.1  centrosomal protein of 112 kDa isoform X6

    2. XM_054315323.1 → XP_054171298.1  centrosomal protein of 112 kDa isoform X5

    3. XM_054315325.1 → XP_054171300.1  centrosomal protein of 112 kDa isoform X6

    4. XM_054315319.1 → XP_054171294.1  centrosomal protein of 112 kDa isoform X1

    5. XM_054315327.1 → XP_054171302.1  centrosomal protein of 112 kDa isoform X8

    6. XM_054315329.1 → XP_054171304.1  centrosomal protein of 112 kDa isoform X8

    7. XM_054315328.1 → XP_054171303.1  centrosomal protein of 112 kDa isoform X9

    8. XM_054315330.1 → XP_054171305.1  centrosomal protein of 112 kDa isoform X10

    9. XM_054315331.1 → XP_054171306.1  centrosomal protein of 112 kDa isoform X11

    10. XM_054315332.1 → XP_054171307.1  centrosomal protein of 112 kDa isoform X12

    11. XM_054315322.1 → XP_054171297.1  centrosomal protein of 112 kDa isoform X4

    12. XM_054315321.1 → XP_054171296.1  centrosomal protein of 112 kDa isoform X3

    13. XM_054315320.1 → XP_054171295.1  centrosomal protein of 112 kDa isoform X2

    14. XM_054315326.1 → XP_054171301.1  centrosomal protein of 112 kDa isoform X7

    RNA

    1. XR_008484794.1 RNA Sequence

    2. XR_008484793.1 RNA Sequence

    3. XR_008484795.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145036.3: Suppressed sequence

      Description
      NM_145036.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8E3.2 GenPept UniProtKB/Swiss-Prot:Q8N8E3

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