POC1B - POC1 centriolar protein B Gene

中文名称：POC1 中心粒蛋白 B

种属: Homo sapiens

同用名: PIX1; CORD20; TUWD12; WDR51B

基因 ID: 282809 | 基因类型: protein coding

关于 POC1B

Cytogenetic location: 12q21.33 Genomic coordinates (GRCh38): 12:89,419,718-89,526,047 (from NCBI)

This gene has 14 transcripts (splice variants), 153 orthologues, 26 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 7.2), small intestine (RPKM 5.7) and 25 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。该基因的突变导致常染色体隐性锥杆营养不良。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 10 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. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

POC1B 基因产物(2)

mRNA	Protein	Name
NM_001199777.2	NP_001186706.1	POC1 centriolar protein homolog B isoform b
NM_172240.3	NP_758440.1	POC1 centriolar protein homolog B isoform a

POC1B 蛋白结构

WD40

0
100
200
300
400
478 a.a.

蛋白主名

其他名称

POC1 centriolar protein homolog B

WD repeat-containing protein 51B

关联疾病

疾病名称

别名

Cone-Rod Dystrophy 20

CORD20

Dystrophy, Cone-Rod, Type 20

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

Childhood-Onset Schizophrenia

Childhood Schizophrenia

Schizophrenia, Childhood

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64	Retinal Dystrophy With Early Macular Involvement
CORD16	RP64

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Colloid Carcinoma Of The Pancreas

Nephrotic Syndrome, Type 3

NPHS3	Nephrotic Syndrome Type 3
Nephrotic Syndrome, Early-Onset, Type 3	Early Onset Nephrotic Syndrome Type 3
Nephrotic Syndrome 3	Early-Onset Nephrotic Syndrome Type 3

Retinitis Pigmentosa 28

RP28	Retinitis Pigmentosa, Type 28

Spastic Paraplegia 15, Autosomal Recessive

SPG15	Kjellin Syndrome
Hereditary Spastic Paraplegia 15	Spastic Paraplegia And Retinal Degeneration
Autosomal Recessive Spastic Paraplegia Type 15	Hereditary Spastic Paraparesis Type 15
Spastic Paraplegia-Retinal Degeneration Syndrome	Autosomal Recessive Spastic Paraplegia 15

Peripheral Retinal Degeneration

Peripheral Degeneration Of Retina	Degeneration Of Retina Nos
Reticular Retinal Degeneration	Retinal Degeneration

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Senior-Loken Syndrome 1

Senior-Loken Syndrome	Renal Dysplasia And Retinal Aplasia
Renal-Retinal Syndrome	Loken-Senior Syndrome
Juvenile Nephronophthisis With Leber Amaurosis	SLSN1
Senior-Loken Syndrome-1	Loken Senior Syndrome
Senior Loken Syndrome	Renal Dysplasia Retinal Aplasia
Nephronophthisis With Retinal Dystrophy	Renal Dysplasia-Retinal Aplasia Syndrome
Slsn

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 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

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

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

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-RS10805	POC1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	POC1B	RGD	RGD:2323942
Canis familiaris	POC1B	VGNC	VGNC:54220
Mus musculus	POC1B	MGD	MGI:1918511
Bos taurus	POC1B	VGNC	VGNC:50158
Felis catus	POC1B	VGNC	VGNC:97561
Macaca mulatta	POC1B	VGNC	VGNC:100090

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

POC1B - POC1 centriolar protein B Gene

关于 POC1B

功能概要

POC1B 基因产物(2)

POC1B 蛋白结构

关联疾病

直系同源

热门区域

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POC1B - POC1 centriolar protein B Gene

关于 POC1B

功能概要

POC1B 基因产物(2)

POC1B 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

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