CEP135 - centrosomal protein 135 Gene

Also Known as CEP4; MCPH8; KIAA0635

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9662

About CEP135

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:55,948,945-56,033,361 (from NCBI)

This gene has 5 transcripts (splice variants), 139 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in lymph node (RPKM 5.5), endometrium (RPKM 4.6) and 24 other tissues.

Summary

This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

CEP135 Products (1)

mRNA	Protein	Name
NM_025009.5	NP_079285.2	centrosomal protein of 135 kDa

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	27477386	GOA
enables microtubule binding	IDA IDA: Inferred from direct assay	27477386	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18851962	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	27477386	GOA
enables tubulin binding	IDA IDA: Inferred from direct assay	27477386	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in centriole replication	IMP IMP: Inferred from mutant phenotype	17681131	GOA
involved in centriole-centriole cohesion	IMP IMP: Inferred from mutant phenotype	18851962	GOA
involved in positive regulation of establishment of protein localization	IMP IMP: Inferred from mutant phenotype	27185865	GOA
involved in positive regulation of non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	26545777	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centriole	IDA IDA: Inferred from direct assay	17681131	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

Protein Preferred Names	Protein Names
centrosomal protein of 135 kDa	centrosomal protein 135kDa

CEP135 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CEP135	Q66GS9	CEP162	Homo sapiens	Q5TB80	BioID	26638075
Intra	CEP135	Q66GS9	PIBF1	Homo sapiens	A0A087WUI6	BFG-2H	27107012
Intra	CEP135	Q66GS9	PIBF1	Homo sapiens	A0A087WUI6	Y2H	27107012
Intra	CEP135	Q66GS9	NUFIP2	Homo sapiens	Q7Z417	Anti Bait CoIP	35709258
Intra	CEP135	Q66GS9	SASS6	Homo sapiens	Q6UVJ0	Anti Tag CoIP	23511974
Intra	CEP135	Q66GS9	SASS6	Homo sapiens	Q6UVJ0	Pull Down	23511974
Intra	CEP135	Q66GS9	SASS6	Homo sapiens	Q6UVJ0	Anti Bait CoIP	23511974
Intra	CEP135	Q66GS9	CEP152	Homo sapiens	O94986-3	Anti Tag CoIP	24997597
Intra	CEP135	Q66GS9	SPICE1	Homo sapiens	Q8N0Z3	BioID	26638075
Intra	CEP135	Q66GS9	SPICE1	Homo sapiens	Q8N0Z3	Anti Tag CoIP	26638075
Intra	CEP135	Q66GS9	AGO1	Homo sapiens	Q9UL18	Anti Bait CoIP	35709258
Intra	CEP135	Q66GS9	RC3H1	Homo sapiens	Q5TC82	Confocal	35709258
Intra	CEP135	Q66GS9	RC3H1	Homo sapiens	Q5TC82	Anti Bait CoIP	35709258
Intra	CEP135	Q66GS9	NDEL1	Homo sapiens	Q9GZM8	BioID	26638075
Intra	CEP135	Q66GS9	CENPJ	Homo sapiens	Q9HC77	Anti Bait CoIP	23511974
Intra	CEP135	Q66GS9	CENPJ	Homo sapiens	Q9HC77	Pull Down	23511974
Intra	CEP135	Q66GS9	CENPJ	Homo sapiens	Q9HC77	IF	20531387

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Microcephaly 8, Primary, Autosomal Recessive	MCPH8 Primary Autosomal Recessive Microcephaly 8
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Microcephaly 12, Primary, Autosomal Recessive	MCPH12 Primary Autosomal Recessive Microcephaly 12 Microcephaly, Type 12, Primary, Autosomal Recessive
Microcephaly 10, Primary, Autosomal Recessive	MCPH10 Microcephalic Primordial Dwarfism Due To Znf335 Deficiency Primary Autosomal Recessive Microcephaly 10 Microcephalic Primordial Dwarfism, Walsh Type Microcephaly, Type 10, Primary, Autosomal Recessive
Microcephaly 16, Primary, Autosomal Recessive	MCPH16 Primary Autosomal Recessive Microcephaly 16
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Microcephaly 15, Primary, Autosomal Recessive NEDMISBA Mcph15 Primary Autosomal Recessive Microcephaly 15 Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities
Female-Restricted Syndromic X-Linked Intellectual Disability 99	X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted Female-Restricted Syndromic X-Linked Mental Retardation 99 Mrxs99f X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females
Microcephaly 9, Primary, Autosomal Recessive	MCPH9 Primary Autosomal Recessive Microcephaly 9 Microcephaly, Type 9, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive	MCPH11 Primary Autosomal Recessive Microcephaly 11 Microcephaly, Type 11, Primary, Autosomal Recessive
Microcephaly 3, Primary, Autosomal Recessive	MCPH3 Primary Autosomal Recessive Microcephaly 3 Microcephaly, Primary Autosomal Recessive, 3
Microcephaly 14, Primary, Autosomal Recessive	MCPH14 Primary Autosomal Recessive Microcephaly 14 Microcephaly, Type 14, Primary, Autosomal Recessive
Microcephaly 5, Primary, Autosomal Recessive	MCPH5 Primary Autosomal Recessive Microcephaly 5 Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern Microcephaly, Primary Autosomal Recessive, 5
Microcephaly 13, Primary, Autosomal Recessive	MCPH13 Primary Autosomal Recessive Microcephaly 13 Microcephaly, Type 13, Primary, Autosomal Recessive
Microcephaly 19, Primary, Autosomal Recessive	MCPH19 Primary Autosomal Recessive Microcephaly 19 Microcephaly, Type 19, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant	MCPH18 Primary Autosomal Dominant Microcephaly 18
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microcephalic Osteodysplastic Primordial Dwarfism Type Ii Majewski Osteodysplastic Primordial Dwarfism Type Ii MOPD2 Mopd Ii Osteodysplastic Primordial Dwarfism Type Ii Mopdii Osteodysplastic Primordial Dwarfism Type 2 Osteodysplastic Primordial Dwarfism, Type Ii Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Mopd 2 Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities Mopd Type Ii Microcephalic Osteodysplastic Primordial Dwarfism 2 Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
Male Infertility Due To Acephalic Spermatozoa	Acephalic Spermatozoa Syndrome
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

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 (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS02501	CEP135 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CEP135	VGNC	VGNC:60768
Macaca mulatta	CEP135	VGNC	VGNC:71128
Mus musculus	CEP135	MGD	MGI:2681869
Canis familiaris	CEP135	VGNC	VGNC:39118
Rattus norvegicus	CEP135	RGD	RGD:1310726
Bos taurus	CEP135	VGNC	VGNC:27193
Others	CEP135	NCBI