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CEP112 centrosomal protein 112 [ Homo sapiens (human) ]

Gene ID: 201134, updated on 3-Nov-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
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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 (35) 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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