CENPJ - centromere protein J Gene

Also Known as LAP; CPAP; LIP1; BM032; MCPH6; SASS4; SCKL4; Sas-4; CENP-J

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55835

About CENPJ

Cytogenetic location: 13q12.12-q12.13 Genomic coordinates (GRCh38): 13:24,882,279-24,941,542 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 1 paralogue and is associated with 5 phenotypes. Broad expression in testis (RPKM 7.3), thyroid (RPKM 2.9) and 22 other tissues.

Summary

This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the STAT5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

CENPJ Products (1)

mRNA	Protein	Name
NM_018451.5	NP_060921.3	centromere protein J

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables gamma-tubulin binding	IDA IDA: Inferred from direct assay	11003675	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	24076405	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11003675	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	11984006	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	20531387	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	12198240	GOA
enables tubulin binding	IDA IDA: Inferred from direct assay	15047868	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within astral microtubule nucleation	IDA IDA: Inferred from direct assay	11003675	GOA
involved in centriole elongation	IDA IDA: Inferred from direct assay	22020124	GOA
involved in centriole replication	IMP IMP: Inferred from mutant phenotype	17681131	GOA
involved in microtubule polymerization	IMP IMP: Inferred from mutant phenotype	15047868	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	22020124	GOA
involved in positive regulation of centriole elongation	IMP IMP: Inferred from mutant phenotype	27185865	GOA
involved in positive regulation of centriole replication	IDA IDA: Inferred from direct assay	22020124	GOA
involved in positive regulation of establishment of protein localization	IMP IMP: Inferred from mutant phenotype	27185865	GOA
acts upstream of or within positive regulation of receptor signaling pathway via JAK-STAT	IDA IDA: Inferred from direct assay	12198240	GOA
involved in regulation of centriole replication	IMP IMP: Inferred from mutant phenotype	20531387	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	11003675	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12198240	GOA
part of procentriole replication complex	IPI IPI: Inferred from physical interaction	22020124	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

CENPJ Protein Structure

Tcp10_C

0
300
600
900
1200
1338 a.a.

Protein Preferred Names	Protein Names
centromere protein J	LAG-3-associated protein

CENPJ Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CENPJ	Q9HC77	CEP135	Homo sapiens	Q66GS9	Anti Bait CoIP	23511974
Intra	CENPJ	Q9HC77	CEP135	Homo sapiens	Q66GS9	Pull Down	23511974
Intra	CENPJ	Q9HC77	TNKS	Homo sapiens	O95271	Anti Tag CoIP	22699936
Intra	CENPJ	Q9HC77	YWHAG	Homo sapiens	P61981	BioID	26638075
Intra	CENPJ	Q9HC77	BCCIP	Homo sapiens	Q9P287	Validated Y2H	32296183
Intra	CENPJ	Q9HC77	PLK2	Homo sapiens	Q9NYY3	Protein Kinase Assay	20531387
Intra	CENPJ	Q9HC77	STIL	Homo sapiens	Q15468	Anti Tag CoIP	22020124
Intra	CENPJ	Q9HC77	STIL	Homo sapiens	Q15468	Anti Bait CoIP	22020124
Intra	CENPJ	Q9HC77	STIL	Homo sapiens	Q15468	FPS	24076405
Intra	CENPJ	Q9HC77	STIL	Homo sapiens	Q15468	Pull Down	22020124
Intra	CENPJ	Q9HC77	CIC	Homo sapiens	Q96RK0	Y2H	16713569
Intra	CENPJ	Q9HC77	YWHAH	Homo sapiens	Q04917	BioID	26638075
Intra	CENPJ	Q9HC77	YWHAH	Homo sapiens	Q04917	Anti Tag CoIP	26496610

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Microcephaly 6, Primary, Autosomal Recessive	MCPH6 Primary Autosomal Recessive Microcephaly 6 Microcephaly, Primary Autosomal Recessive, 6 Microcephaly, Type 6, Primary, Autosomal Recessive
Seckel Syndrome 4	SCKL4 Seckel Syndrome, Type 4
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Microcephaly 1, Primary, Autosomal Recessive	MCPH1 Premature Chromosome Condensation Syndrome Pcc Syndrome Primary Autosomal Recessive Microcephaly 1 Microcephaly, Primary Autosomal Recessive, 1 Premature Chromosome Condensation With Microcephaly And Mental Retardation Microcephaly Vera True Microcephaly Microcephaly, Type 1, Primary, Autosomal Recessive Autosomal Recessive Primary Microcephaly
Seckel Syndrome 5	SCKL5 Seckel Syndrome, Type 5
Lissencephaly 3	LIS3 Lissencephaly Due To Tuba1a Mutation Lissencephaly Type 3 Lissencephaly, Type 3
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Microcephaly 9, Primary, Autosomal Recessive	MCPH9 Primary Autosomal Recessive Microcephaly 9 Microcephaly, Type 9, Primary, Autosomal Recessive
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
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 17, Primary, Autosomal Recessive	MCPH17 Primary Autosomal Recessive Microcephaly 17
Seckel Syndrome 2	SCKL2 Seckel-Type Dwarfism 2 Microcephalic Primordial Dwarfism 2 Bird-Headed Dwarfism 2 Seckel Syndrome, Type 2
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
Microlissencephaly
Microcephaly 18, Primary, Autosomal Dominant	MCPH18 Primary Autosomal Dominant Microcephaly 18
Microcephaly 16, Primary, Autosomal Recessive	MCPH16 Primary Autosomal Recessive Microcephaly 16
Microcephaly 11, Primary, Autosomal Recessive	MCPH11 Primary Autosomal Recessive Microcephaly 11 Microcephaly, Type 11, Primary, Autosomal Recessive
Microcephaly 13, Primary, Autosomal Recessive	MCPH13 Primary Autosomal Recessive Microcephaly 13 Microcephaly, Type 13, Primary, Autosomal Recessive
Tetanus Neonatorum	Neonatal Tetanus NNT Trismus Neonatorum Newborn Trismus
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
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
Isolated Growth Hormone Deficiency	Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Pituitary Dwarfism Dwarfism, Pituitary Isolated Somatotropin Deficiency Isolated Congenital Growth Hormone Deficiency Familial Isolated Growth Hormone Deficiency Ighd Dwarfism, Growth Hormone Deficiency Growth Hormone Deficiency Dwarfism Isolated Gh Deficiency Isolated Hgh Deficiency Isolated Human Growth Hormone Deficiency Isolated Somatotropin Deficiency Disorder Dwarfism Pituitary
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Physical Disorder	Physical Illness
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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02482	CENPJ Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CENPJ	RGD	RGD:1310464
Felis catus	CENPJ	VGNC	VGNC:60755
Mus musculus	CENPJ	MGD	MGI:2684927
Macaca mulatta	CENPJ	VGNC	VGNC:70965
Canis familiaris	CENPJ	VGNC	VGNC:54932
Bos taurus	CENPJ	VGNC	VGNC:50039
Others	CENPJ	NCBI