CEP112 - centrosomal protein 112 Gene

Also Known as CCDC46; MACOCO; SPGF44

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 201134

About CEP112

Cytogenetic location: 17q24.1 Genomic coordinates (GRCh38): 17:65,635,537-66,192,133 (from NCBI)

This gene has 20 transcripts (splice variants), 185 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 4.7), fat (RPKM 2.6) and 20 other tissues.

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]

CEP112 Products (6)

mRNA Protein Name
NM_001037325.3 NP_001032402.1 centrosomal protein of 112 kDa isoform b
NM_001199165.4 NP_001186094.1 centrosomal protein of 112 kDa isoform a
NM_001302891.3 NP_001289820.1 centrosomal protein of 112 kDa isoform c
NM_001353127.2 NP_001340056.1 centrosomal protein of 112 kDa isoform a
NM_001353128.2 NP_001340057.1 centrosomal protein of 112 kDa isoform c
NM_001353129.2 NP_001340058.1 centrosomal protein of 112 kDa isoform d

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
36931259 GOA
Cellular Component GO Annotation Evidence References Source
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CEP112 Protein Structure

DUF4485

DUF4485: Domain of unknown function (DUF4485) (12 - 99)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 955 a.a.
Protein Preferred Names Protein Names

centrosomal protein of 112 kDa

  • centrosomal protein 112kDa

CEP112 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CEP112 Q8N8E3 YWHAE Homo sapiens P62258
Crosslink
36931259
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spermatogenic Failure 44

  • SPGF44
Spermatogenic Failure 16

  • SPGF16

  • Acephalic Spermatozoa Syndrome

  • Spermatozoa, Acephalic
Male Infertility Due To Acephalic Spermatozoa

  • Acephalic Spermatozoa Syndrome
Spermatogenic Failure

  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02497 CEP112 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21835 Cep112 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus CEP112 VGNC VGNC:98808
Rattus norvegicus CEP112 RGD RGD:1564168
Bos taurus CEP112 VGNC VGNC:27190
Macaca mulatta CEP112 VGNC VGNC:71124
Mus musculus CEP112 MGD MGI:1923673
Others CEP112 NCBI