2. Gene
  3. CEP170 - centrosomal protein 170 Gene

CEP170 - centrosomal protein 170 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15161933 GOA
Cellular Component GO Annotation Evidence Reference 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

FHA: FHA domain (24 - 90)

CEP170_C

CEP170_C: CEP170 C-terminus (807 - 1507)

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  • 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 Reference
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
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