CEP170 - centrosomal protein 170 Gene

Homo sapiens

Also known as KAB; FAM68A; KIAA0470

Gene ID: 9859 | Gene type: protein coding

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

CEP170 Protein Structure

FHA

CEP170_C

0
300
600
900
1200
1584 a.a.

Protein Preferred Names

Protein Names

centrosomal protein of 170 kDa

KARP-1-binding protein

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02505	CEP170 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS02506	CEP170B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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