POC1A - POC1 centriolar protein A Gene

中文名称：POC1 中心粒蛋白 A

种属: Homo sapiens

同用名: PIX2; SOFT; WDR51A

基因 ID: 25886 | 基因类型: protein coding

关于 POC1A

Cytogenetic location: 3p21.2 Genomic coordinates (GRCh38): 3:52,075,226-52,154,423 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues, 26 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 5.0), bone marrow (RPKM 2.2) and 21 other tissues.

功能概要

POC1 蛋白包含一个 N 端 WD40 结构域和一个 C 端卷曲螺旋结构域，是中心体的一部分。它们在基体和纤毛形成中起重要作用。该基因编码人类发现的两种 POC1 蛋白之一。该基因的突变会导致身材矮小、甲发育不良、面部畸形和少毛症 (SOFT) 综合征。[RefSeq 提供，2012 年 9 月]

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

POC1A 基因产物(3)

mRNA	Protein	Name
NM_001161580.2	NP_001155052.1	POC1 centriolar protein homolog A isoform 2
NM_001161581.2	NP_001155053.1	POC1 centriolar protein homolog A isoform 3
NM_015426.5	NP_056241.3	POC1 centriolar protein homolog A isoform 1

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	23015594	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centriole	IDA IDA: 通过直接分析推断	20008567	GOA
located in centrosome	IDA IDA: 通过直接分析推断	21399614	GOA
located in ciliary basal body	IDA IDA: 通过直接分析推断	20008567	GOA
located in spindle pole	IDA IDA: 通过直接分析推断	23015594	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

POC1A 蛋白结构

WD40

0
100
200
300
407 a.a.

蛋白主名

其他名称

POC1 centriolar protein homolog A

WD repeat domain 51A

POC1A 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
种属内	POC1A	Q8NBT0	NEK7	Homo sapiens	Q8TDX7	Validated Y2H	32814053
种属内	POC1A	Q8NBT0	NEK7	Homo sapiens	Q8TDX7	Y2H Array	32814053
种属内	POC1A	Q8NBT0	NEK7	Homo sapiens	Q8TDX7	Y2H Pooling	32814053
种属内	POC1A	Q8NBT0	NUDC	Homo sapiens	Q9Y266	Anti Tag CoIP	33961781
种属内	POC1A	Q8NBT0	NUDC	Homo sapiens	Q9Y266	BioID	26638075
种属内	POC1A	Q8NBT0	PECAM1	Homo sapiens	P16284	Y2H Array	32814053
种属内	POC1A	Q8NBT0	PECAM1	Homo sapiens	P16284	Y2H Pooling	32814053
种属内	POC1A	Q8NBT0	PECAM1	Homo sapiens	P16284	Validated Y2H	32814053
种属内	POC1A	Q8NBT0	CDH1	Homo sapiens	P12830	Validated Y2H	32814053
种属内	POC1A	Q8NBT0	CDH1	Homo sapiens	P12830	Y2H Array	32814053
种属内	POC1A	Q8NBT0	CDH1	Homo sapiens	P12830	Y2H Pooling	32814053

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

Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis

Soft Syndrome	Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome
SOFT	Stature, Short, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis Syndrome

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

Hypotrichosis

Cataract 8, Multiple Types

Ccv	Cataract, Congenital, Volkmann Type
CTRCT8	Cataract 8 Multiple Types
Cataract Congenital Volkmann Type	Cutaneous Collagenous Vasculopathy

Brachydactyly

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

Three M Syndrome 1

3-M Syndrome	Yakut Short Stature Syndrome
3m Syndrome	Le Merrer Syndrome
Dolichospondylic Dysplasia	Gloomy Face Syndrome
Three M Syndrome	3M1
3m Syndrome 1	Miller-Mckusick-Malvaux Syndrome
3-Msbn	Three-M Slender-Boned Nanism
Miller-Mckusick-Malvaux-Syndrome	3-M Syndrome 1
3m Syndrome-1	3m Syndrome, Type 1
Dwarfism	Dwarfism Tall Vertebrae

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

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

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-RS10804	POC1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	POC1A	VGNC	VGNC:76102
Rattus norvegicus	POC1A	RGD	RGD:1565004
Canis familiaris	POC1A	VGNC	VGNC:54982
Bos taurus	POC1A	VGNC	VGNC:50094
Felis catus	POC1A	VGNC	VGNC:64271
Mus musculus	POC1A	MGD	MGI:1917485

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

POC1A - POC1 centriolar protein A Gene

关于 POC1A

功能概要

POC1A 基因产物(3)

POC1A 蛋白结构

POC1A 蛋白互作信息

关联疾病

直系同源

热门区域

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POC1A - POC1 centriolar protein A Gene

关于 POC1A

功能概要

POC1A 基因产物(3)

POC1A 蛋白结构

POC1A 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z