CEP63 - centrosomal protein 63 Gene

中文名称：中心体蛋白 63

种属: Homo sapiens

同用名: SCKL6

基因 ID: 80254 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种具有六个卷曲螺旋结构域的蛋白质。该蛋白质定位于中心体，中心体是一种非膜细胞器，在动物细胞中起着主要微管组织中心的作用。已经发现了几种可变剪接的转录本变体，但尚未确定它们的生物学有效性。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables molecular adaptor activity	IDA IDA: 通过直接分析推断	35793002	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12812986	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in centriole replication	IMP IMP: 通过突变表型推断	26297806	GOA
involved in negative regulation of innate immune response	IDA IDA: 通过直接分析推断	35793002	GOA
involved in negative regulation of protein K63-linked ubiquitination	IDA IDA: 通过直接分析推断	35989368	GOA
involved in protein stabilization	IDA IDA: 通过直接分析推断	35989368	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in centrosome	IDA IDA: 通过直接分析推断	35793002	GOA
located in centrosome	IDA IDA: 通过直接分析推断	14654843	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

蛋白主名

其他名称

centrosomal protein of 63 kDa

centrosomal protein 63kDa

CEP63 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02519	CEP63 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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