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    CEP112 centrosomal protein 112 [ Homo sapiens (human) ]

    Gene ID: 201134, updated on 6-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CEP112 in Genome Data Viewer
    Location:
    17q24.1
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (65635537..66192133, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (66506157..67062904, complement)
    105.20220307 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

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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_001037325.3NP_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:50164
      PRK12704; phosphodiesterase; Provisional
    2. NM_001199165.4NP_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:1498
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:370946
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001302891.3NP_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:1498
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:328904
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_001353127.2NP_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:1498
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:370946
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_001353128.2NP_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:1498
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:328904
      SMC_N; RecF/RecN/SMC N terminal domain
    6. NM_001353129.2NP_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:1498
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:371947
      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_2023_10

    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_047435529.1XP_047291485.1  centrosomal protein of 112 kDa isoform X6

      UniProtKB/TrEMBL
      B4DR29
    2. XM_047435528.1XP_047291484.1  centrosomal protein of 112 kDa isoform X5

      UniProtKB/TrEMBL
      B4DR29
    3. XM_047435530.1XP_047291486.1  centrosomal protein of 112 kDa isoform X6

      UniProtKB/TrEMBL
      B4DR29
    4. XM_005257119.6XP_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:1498
      DUF4485; Domain of unknown function (DUF4485)
      cl25732
      Location:371947
      SMC_N; RecF/RecN/SMC N terminal domain
    5. XM_024450634.2XP_024306402.1  centrosomal protein of 112 kDa isoform X8

      Conserved Domains (1) summary
      cl25732
      Location:140716
      SMC_N; RecF/RecN/SMC N terminal domain
    6. XM_011524465.3XP_011522767.1  centrosomal protein of 112 kDa isoform X8

      Conserved Domains (1) summary
      cl25732
      Location:140716
      SMC_N; RecF/RecN/SMC N terminal domain
    7. XM_005257125.4XP_005257182.1  centrosomal protein of 112 kDa isoform X9

      UniProtKB/TrEMBL
      B3KUW3
      Conserved Domains (2) summary
      COG0419
      Location:63639
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cl19219
      Location:386465
      DUF342; Protein of unknown function (DUF342)
    8. XM_011524466.3XP_011522768.1  centrosomal protein of 112 kDa isoform X10

      UniProtKB/TrEMBL
      B3KUW3
      Conserved Domains (2) summary
      COG0419
      Location:18594
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cl19219
      Location:341420
      DUF342; Protein of unknown function (DUF342)
    9. XM_011524467.3XP_011522769.1  centrosomal protein of 112 kDa isoform X11

      UniProtKB/TrEMBL
      B3KUW3
      Conserved Domains (1) summary
      cl19219
      Location:288367
      DUF342; Protein of unknown function (DUF342)
    10. XM_005257126.5XP_005257183.1  centrosomal protein of 112 kDa isoform X12

      UniProtKB/TrEMBL
      B3KUW3
      Conserved Domains (1) summary
      cl19219
      Location:285364
      DUF342; Protein of unknown function (DUF342)
    11. XM_047435527.1XP_047291483.1  centrosomal protein of 112 kDa isoform X4

      UniProtKB/TrEMBL
      B4DR29
    12. XM_047435526.1XP_047291482.1  centrosomal protein of 112 kDa isoform X3

      UniProtKB/TrEMBL
      B4DR29
    13. XM_047435525.1XP_047291481.1  centrosomal protein of 112 kDa isoform X2

      UniProtKB/TrEMBL
      B4DR29
    14. XM_006721744.4XP_006721807.1  centrosomal protein of 112 kDa isoform X7

      Conserved Domains (4) summary
      COG0419
      Location:252726
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam14846
      Location:1398
      DUF4485; Domain of unknown function (DUF4485)
      cd16269
      Location:683694
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:515717
      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_054315324.1XP_054171299.1  centrosomal protein of 112 kDa isoform X6

      UniProtKB/TrEMBL
      B4DR29
    2. XM_054315323.1XP_054171298.1  centrosomal protein of 112 kDa isoform X5

      UniProtKB/TrEMBL
      B4DR29
    3. XM_054315325.1XP_054171300.1  centrosomal protein of 112 kDa isoform X6

      UniProtKB/TrEMBL
      B4DR29
    4. XM_054315319.1XP_054171294.1  centrosomal protein of 112 kDa isoform X1

      UniProtKB/TrEMBL
      B4DR29
    5. XM_054315327.1XP_054171302.1  centrosomal protein of 112 kDa isoform X8

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

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

      UniProtKB/TrEMBL
      B3KUW3
    8. XM_054315330.1XP_054171305.1  centrosomal protein of 112 kDa isoform X10

      UniProtKB/TrEMBL
      B3KUW3
    9. XM_054315331.1XP_054171306.1  centrosomal protein of 112 kDa isoform X11

      UniProtKB/TrEMBL
      B3KUW3
    10. XM_054315332.1XP_054171307.1  centrosomal protein of 112 kDa isoform X12

      UniProtKB/TrEMBL
      B3KUW3
    11. XM_054315322.1XP_054171297.1  centrosomal protein of 112 kDa isoform X4

      UniProtKB/TrEMBL
      B4DR29
    12. XM_054315321.1XP_054171296.1  centrosomal protein of 112 kDa isoform X3

      UniProtKB/TrEMBL
      B4DR29
    13. XM_054315320.1XP_054171295.1  centrosomal protein of 112 kDa isoform X2

      UniProtKB/TrEMBL
      B4DR29
    14. XM_054315326.1XP_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.