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CEP112 centrosomal protein 112 [ Homo sapiens (human) ]

Gene ID: 201134, updated on 7-Jun-2020

Summary

Official Symbol
CEP112provided by HGNC
Official Full Name
centrosomal protein 112provided by HGNC
Primary source
HGNC:HGNC:28514
See related
Ensembl:ENSG00000154240
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
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

Genomic context

See CEP112 in Genome Data Viewer
Location:
17q24.1
Exon count:
37
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (65635537..66192133, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (63631658..64188212, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2563 Neighboring gene axin 2 Neighboring gene chloride intracellular channel 1 pseudogene Neighboring gene dynactin subunit 6 pseudogene Neighboring gene calponin 3, acidic pseudogene Neighboring gene uncharacterized LOC105371867 Neighboring gene nuclear transport factor 2 pseudogene 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39610, MGC33887

Gene Ontology Provided by GOA

Process Evidence Code Pubs
receptor localization to synapse IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
inhibitory synapse IEA
Inferred from Electronic Annotation
more info
 
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)

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
    Q8N8E3
    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
    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_001353127.1NP_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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011524464.3XP_011522766.1  centrosomal protein of 112 kDa isoform X4

    Conserved Domains (5) summary
    COG1196
    Location:271878
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam14846
    Location:1398
    DUF4485; Domain of unknown function (DUF4485)
    cd16269
    Location:683694
    GBP_C; coiled coil [structural motif]
    cl19219
    Location:694773
    DUF342; Protein of unknown function (DUF342)
    cl20817
    Location:515717
    GBP_C; Guanylate-binding protein, C-terminal domain
  2. XM_005257119.5XP_005257176.1  centrosomal protein of 112 kDa isoform X1

    See identical proteins and their annotated locations for XP_005257176.1

    Conserved Domains (2) summary
    pfam14846
    Location:1498
    DUF4485; Domain of unknown function (DUF4485)
    cl25732
    Location:371947
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_024450634.1XP_024306402.1  centrosomal protein of 112 kDa isoform X6

    Conserved Domains (1) summary
    cl25732
    Location:140716
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_011524465.2XP_011522767.1  centrosomal protein of 112 kDa isoform X6

    Conserved Domains (1) summary
    cl25732
    Location:140716
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_005257125.3XP_005257182.1  centrosomal protein of 112 kDa isoform X7

    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)
  6. XM_011524466.2XP_011522768.1  centrosomal protein of 112 kDa isoform X8

    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)
  7. XM_011524467.2XP_011522769.1  centrosomal protein of 112 kDa isoform X9

    Conserved Domains (1) summary
    cl19219
    Location:288367
    DUF342; Protein of unknown function (DUF342)
  8. XM_005257126.4XP_005257183.1  centrosomal protein of 112 kDa isoform X10

    Conserved Domains (1) summary
    cl19219
    Location:285364
    DUF342; Protein of unknown function (DUF342)
  9. XM_011524463.2XP_011522765.1  centrosomal protein of 112 kDa isoform X3

    Conserved Domains (3) summary
    COG1196
    Location:271879
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam14846
    Location:1398
    DUF4485; Domain of unknown function (DUF4485)
    cl19219
    Location:694773
    DUF342; Protein of unknown function (DUF342)
  10. XM_011524462.3XP_011522764.1  centrosomal protein of 112 kDa isoform X2

    Conserved Domains (3) summary
    COG1196
    Location:271879
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam14846
    Location:1398
    DUF4485; Domain of unknown function (DUF4485)
    cl19219
    Location:694773
    DUF342; Protein of unknown function (DUF342)
  11. XM_006721744.3XP_006721807.1  centrosomal protein of 112 kDa isoform X5

    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_001752444.1 RNA Sequence

  2. XR_934412.2 RNA Sequence

  3. XR_934414.2 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.
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