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CEP170 - centrosomal protein 170 Gene

Also Known as KAB; FAM68A; KIAA0470

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9859

About CEP170

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:243,124,428-243,255,785 (from NCBI)

This gene has 25 transcripts (splice variants), 1 gene allele, 231 orthologues and 1 paralogue. Broad expression in brain (RPKM 12.9), testis (RPKM 11.4) and 23 other tissues.

Summary

The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During Mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

CEP170 Products (3)

mRNA	Protein	Name
NM_001042404.2	NP_001035863.1	centrosomal protein of 170 kDa isoform beta
NM_001042405.2	NP_001035864.1	centrosomal protein of 170 kDa isoform gamma
NM_014812.3	NP_055627.2	centrosomal protein of 170 kDa isoform alpha

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of centriolar subdistal appendage	IDA IDA: Inferred from direct assay	23213374	GOA
located in centriole	IDA IDA: Inferred from direct assay	23213374	GOA
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

CEP170 Protein Structure

FHA

CEP170_C

0
300
600
900
1200
1500
1584 a.a.

Protein Preferred Names	Protein Names
centrosomal protein of 170 kDa	KARP-1-binding protein

CEP170 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CEP170	Q5SW79	CCDC61	Homo sapiens	Q9Y6R9	IF	31789463
Intra	CEP170	Q5SW79	CCDC61	Homo sapiens	Q9Y6R9	Anti Tag CoIP	31789463
Intra	CEP170	Q5SW79	KIF2A	Homo sapiens	O00139	BioID	26638075
Intra	CEP170	Q5SW79	KIF2A	Homo sapiens	O00139	Anti Tag CoIP	35271311
Intra	CEP170	Q5SW79	CCDC68	Homo sapiens	Q9H2F9	Pull Down	28422092
Intra	CEP170	Q5SW79	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	CEP170	Q5SW79	CCDC120	Homo sapiens	Q96HB5	Anti Tag CoIP	28422092
Intra	CEP170	Q5SW79	CCDC120	Homo sapiens	Q96HB5	Pull Down	28422092
Intra	CEP170	Q5SW79	CCDC120	Homo sapiens	Q96HB5	Confocal	28422092
Cross	CEP170	Q5SW79	vpr	Human immunodeficiency virus	P12520	Pull Down	22190034

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Anus Benign Neoplasm	Anal Neoplasm Anal Tumors Neoplasm Of Anus Anus Neoplasms
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome

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-RS02505	CEP170 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02506	CEP170B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CEP170	RGD	RGD:621868
Mus musculus	CEP170	MGD	MGI:1918348
Felis catus	CEP170	VGNC	VGNC:97379
Canis familiaris	CEP170	VGNC	VGNC:39122
Macaca mulatta	CEP170	VGNC	VGNC:97751
Bos taurus	CEP170	VGNC	VGNC:27197
Others	CEP170	NCBI