CENPJ - centromere protein J Gene

Homo sapiens

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

Gene ID: 55835 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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