CEP112 - centrosomal protein 112 Gene

Homo sapiens

Also known as CCDC46; MACOCO; SPGF44

Gene ID: 201134 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	36931259	GOA

Cellular Component GO Annotation	Evidence	Reference	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

0
200
400
600
800
955 a.a.

Protein Preferred Names

Protein Names

centrosomal protein of 112 kDa

centrosomal protein 112kDa

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02497	CEP112 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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