CEP63 - centrosomal protein 63 Gene

Also Known as SCKL6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80254

About CEP63

Cytogenetic location: 3q22.2 Genomic coordinates (GRCh38): 3:134,485,724-134,782,559 (from NCBI)

This gene has 62 transcripts (splice variants), 186 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 6.9), fat (RPKM 3.4) and 25 other tissues.

Summary

This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

CEP63 Products (20)

mRNA	Protein	Name
NM_001042383.2	NP_001035842.1	centrosomal protein of 63 kDa isoform c
NM_001042384.2	NP_001035843.1	centrosomal protein of 63 kDa isoform d
NM_001042400.3	NP_001035859.1	centrosomal protein of 63 kDa isoform b
NM_001353108.3	NP_001340037.1	centrosomal protein of 63 kDa isoform a
NM_001353109.1	NP_001340038.1	centrosomal protein of 63 kDa isoform e
NM_001353110.1	NP_001340039.1	centrosomal protein of 63 kDa isoform b
NM_001353111.2	NP_001340040.1	centrosomal protein of 63 kDa isoform b
NM_001353112.2	NP_001340041.1	centrosomal protein of 63 kDa isoform b
NM_001353113.1	NP_001340042.1	centrosomal protein of 63 kDa isoform f
NM_001353117.2	NP_001340046.1	centrosomal protein of 63 kDa isoform f
NM_001353118.1	NP_001340047.1	centrosomal protein of 63 kDa isoform g
NM_001353119.2	NP_001340048.1	centrosomal protein of 63 kDa isoform c
NM_001353120.2	NP_001340049.1	centrosomal protein of 63 kDa isoform c
NM_001353121.2	NP_001340050.1	centrosomal protein of 63 kDa isoform c
NM_001353122.1	NP_001340051.1	centrosomal protein of 63 kDa isoform c
NM_001353123.2	NP_001340052.1	centrosomal protein of 63 kDa isoform d
NM_001353124.2	NP_001340053.1	centrosomal protein of 63 kDa isoform d
NM_001353125.2	NP_001340054.1	centrosomal protein of 63 kDa isoform h
NM_001353126.2	NP_001340055.1	centrosomal protein of 63 kDa isoform i
NM_025180.5	NP_079456.2	centrosomal protein of 63 kDa isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	35793002	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12812986	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in centriole replication	IMP IMP: Inferred from mutant phenotype	26297806	GOA
involved in negative regulation of innate immune response	IDA IDA: Inferred from direct assay	35793002	GOA
involved in negative regulation of protein K63-linked ubiquitination	IDA IDA: Inferred from direct assay	35989368	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	35989368	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
is active in centrosome	IDA IDA: Inferred from direct assay	35793002	GOA
located in centrosome	IDA IDA: Inferred from direct assay	14654843	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 63 kDa	centrosomal protein 63kDa

CEP63 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CEP63	Q96MT8	CEP57L1	Homo sapiens	Q8IYX8-2	Validated Y2H	25416956
Intra	CEP63	Q96MT8	CEP57L1	Homo sapiens	Q8IYX8-2	Y2H Prey Pooling	25416956
Intra	CEP63	Q96MT8	FBF1	Homo sapiens	Q8TES7-6	Y2H Prey Pooling	25416956
Intra	CEP63	Q96MT8	FBF1	Homo sapiens	Q8TES7-6	Validated Y2H	25416956
Intra	CEP63	Q96MT8	SSX3	Homo sapiens	Q99909	Y2H Array	31515488
Intra	CEP63	Q96MT8	SSX3	Homo sapiens	Q99909	Y2H Prey Pooling	25416956
Intra	CEP63	Q96MT8	SSX3	Homo sapiens	Q99909	Y2H Array	25416956
Intra	CEP63	Q96MT8	TBC1D15	Homo sapiens	Q8TC07	BioID	26638075
Intra	CEP63	Q96MT8	TBC1D15	Homo sapiens	Q8TC07	Y2H Prey Pooling	25416956
Intra	CEP63	Q96MT8	SNRNP70	Homo sapiens	P08621	Anti Bait CoIP	35709258
Intra	CEP63	Q96MT8	CEP57L1	Homo sapiens	Q8IYX8	Y2H Prey Pooling	25416956
Intra	CEP63	Q96MT8	NUFIP2	Homo sapiens	Q7Z417	Anti Bait CoIP	35709258
Intra	CEP63	Q96MT8	HAUS1	Homo sapiens	Q96CS2	Y2H Prey Pooling	25416956
Intra	CEP63	Q96MT8	HAUS1	Homo sapiens	Q96CS2	Y2H Array	25416956
Intra	CEP63	Q96MT8	HAUS1	Homo sapiens	Q96CS2	BioID	26638075
Intra	CEP63	Q96MT8	PIBF1	Homo sapiens	Q8WXW3	Anti Bait CoIP	35709258
Intra	CEP63	Q96MT8	PIBF1	Homo sapiens	Q8WXW3	BioID	26638075
Intra	CEP63	Q96MT8	PIBF1	Homo sapiens	Q8WXW3	Anti Bait CoIP	26297806
Intra	CEP63	Q96MT8	CEP57	Homo sapiens	Q86XR8	Anti Bait CoIP	35709258
Intra	CEP63	Q96MT8	CEP57	Homo sapiens	Q86XR8	Validated Y2H	25416956
Intra	CEP63	Q96MT8	TANK	Homo sapiens	Q92844	BioID	26638075
Intra	CEP63	Q96MT8	TANK	Homo sapiens	Q92844	Validated Y2H	25416956
Intra	CEP63	Q96MT8	TXLNA	Homo sapiens	P40222	Y2H Array	25416956
Intra	CEP63	Q96MT8	TXLNA	Homo sapiens	P40222	BioID	26638075
Intra	CEP63	Q96MT8	SMARCE1	Homo sapiens	Q969G3	Validated Y2H	25416956
Intra	CEP63	Q96MT8	DISC1	Homo sapiens	Q9NRI5	Anti Tag CoIP	12812986
Intra	CEP63	Q96MT8	DISC1	Homo sapiens	Q9NRI5	Y2H	12812986
Intra	CEP63	Q96MT8	EZH2	Homo sapiens	Q15910	Y2H Array	25416956
Intra	CEP63	Q96MT8	EZH2	Homo sapiens	Q15910	Y2H Prey Pooling	25416956
Intra	CEP63	Q96MT8	EZH2	Homo sapiens	Q15910	Y2H Array	31515488
Intra	CEP63	Q96MT8	ZCCHC10	Homo sapiens	Q8TBK6	Y2H Array	25416956
Intra	CEP63	Q96MT8	ZCCHC10	Homo sapiens	Q8TBK6	Y2H Prey Pooling	25416956
Intra	CEP63	Q96MT8	TXLNB	Homo sapiens	Q8N3L3	Validated Y2H	25416956
Intra	CEP63	Q96MT8	TXLNB	Homo sapiens	Q8N3L3	Y2H Array	25416956
Intra	CEP63	Q96MT8	FAM161A	Homo sapiens	Q3B820	Y2H Prey Pooling	25416956
Intra	CEP63	Q96MT8	DTNB	Homo sapiens	O60941	Y2H Array	31515488
Intra	CEP63	Q96MT8	DTNB	Homo sapiens	O60941	Y2H	21516116
Intra	CEP63	Q96MT8	SYT17	Homo sapiens	Q9BSW7	Y2H Array	25416956
Intra	CEP63	Q96MT8	CCDC14	Homo sapiens	Q49A88	BioID	26638075
Intra	CEP63	Q96MT8	CCDC14	Homo sapiens	Q49A88	Anti Bait CoIP	26297806
Intra	CEP63	Q96MT8	NXT2	Homo sapiens	Q9NPJ8	Y2H Array	25416956
Intra	CEP63	Q96MT8	NPM1	Homo sapiens	P06748	Anti Bait CoIP	35709258
Intra	CEP63	Q96MT8	NPM1	Homo sapiens	P06748	Crosslink	30021884
Intra	CEP63	Q96MT8	ALOX5	Homo sapiens	P09917	Y2H Array	31515488
Intra	CEP63	Q96MT8	ALOX5	Homo sapiens	P09917	Validated Y2H	25416956
Intra	CEP63	Q96MT8	TSHZ3	Homo sapiens	Q63HK5	Validated Y2H	25416956
Intra	CEP63	Q96MT8	DZIP3	Homo sapiens	Q86Y13	Y2H Prey Pooling	25416956
Cross	CEP63	Q96MT8	tax	Human T-cell leukemia virus	P03410	Y2H Pooling	22458338
Cross	CEP63	Q96MT8	tax	Human T-cell leukemia virus	P03410	Y2H Array	22458338
Cross	CEP63	Q96MT8	tax	Human T-cell leukemia virus 1	P14079	Y2H Array	22458338
Cross	CEP63	Q96MT8	tax	Human T-cell leukemia virus 1	P14079	Y2H Pooling	22458338

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Seckel Syndrome 6	SCKL6 Seckel Syndrome, Type 6
Myopathy, Myofibrillar, 7	Myofibrillar Myopathy 7 MFM7 Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome Myopathy, Myofibrillar, Type 7
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Dyslexia
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 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	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Brain Small Vessel Disease 2	Porencephaly 2 BSVD2 Gould Syndrome 2 Porencephaly 2, Formerly Poren2, Formerly Poren2
Reading Disorder	Specific Reading Disorder Reading Dyslexia Developmental Reading Disorder
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
Mosaic Variegated Aneuploidy Syndrome	Warburton-Anyane-Yeboa Syndrome Mva Syndrome Mosaic Variegated Aneuplody Microcephaly Syndrome Warburton Anyane Yeboa Syndrome
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
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

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02519	CEP63 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CEP63	VGNC	VGNC:27209
Rattus norvegicus	CEP63	RGD	RGD:1561183
Felis catus	CEP63	VGNC	VGNC:60779
Macaca mulatta	CEP63	VGNC	VGNC:71104
Mus musculus	CEP63	MGD	MGI:2158560
Canis familiaris	CEP63	VGNC	VGNC:39133
Others	CEP63	NCBI