PHC1 - polyhomeotic homolog 1 Gene

中文名称：多同源同系物 1

种属: Homo sapiens

同用名: EDR1; HPH1; RAE28; MCPH11

基因 ID: 1911 | 基因类型: protein coding

关于 PHC1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:8,914,509-8,941,467 (from NCBI)

This gene has 14 transcripts (splice variants), 186 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 40.0), endometrium (RPKM 27.7) and 25 other tissues.

功能概要

该基因是果蝇多同源基因的同系物，后者是 Polycomb 基因组的成员。该基因产物是包含 EDR2 和脊椎动物 Polycomb 蛋白 BMH1 的多聚体蛋白复合物的组成部分。基因产物 EDR2 蛋白和果蝇多同源蛋白共享 2 个高度保守的结构域，命名为同源结构域 I 和 II。这些结构域参与蛋白质-蛋白质相互作用，并可能介导该基因编码的蛋白质和 EDR2 蛋白质的异二聚化。[RefSeq 提供，2008 年 7 月]

This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]

PHC1 基因产物(18)

mRNA	Protein	Name
NM_001413738.1	NP_001400667.1	polyhomeotic-like protein 1 isoform a
NM_001413739.1	NP_001400668.1	polyhomeotic-like protein 1 isoform b
NM_001413740.1	NP_001400669.1	polyhomeotic-like protein 1 isoform c
NM_001413741.1	NP_001400670.1	polyhomeotic-like protein 1 isoform d
NM_001413742.1	NP_001400671.1	polyhomeotic-like protein 1 isoform e
NM_001413743.1	NP_001400672.1	polyhomeotic-like protein 1 isoform f
NM_001413744.1	NP_001400673.1	polyhomeotic-like protein 1 isoform g
NM_001413745.1	NP_001400674.1	polyhomeotic-like protein 1 isoform h
NM_001413746.1	NP_001400675.1	polyhomeotic-like protein 1 isoform i
NM_001413747.1	NP_001400676.1	polyhomeotic-like protein 1 isoform j
NM_001413748.1	NP_001400677.1	polyhomeotic-like protein 1 isoform k
NM_001413749.1	NP_001400678.1	polyhomeotic-like protein 1 isoform k
NM_001413750.1	NP_001400679.1	polyhomeotic-like protein 1 isoform l
NM_001413751.1	NP_001400680.1	polyhomeotic-like protein 1 isoform m
NM_001413752.1	NP_001400681.1	polyhomeotic-like protein 1 isoform m
NM_001413753.1	NP_001400682.1	polyhomeotic-like protein 1 isoform n
NM_001413754.1	NP_001400683.1	polyhomeotic-like protein 1 isoform o
NM_004426.3	NP_004417.2	polyhomeotic-like protein 1 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 protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in chromatin remodeling	IMP IMP: 通过突变表型推断	23418308	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of PRC1 complex	IDA IDA: 通过直接分析推断	12167701	GOA
part of PcG protein complex	IDA IDA: 通过直接分析推断	21282530	GOA
located in nucleus	IDA IDA: 通过直接分析推断	21282530	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

PHC1 蛋白结构

zf-FCS

SAM_1

0
200
400
600
800
1004 a.a.

蛋白主名

其他名称

polyhomeotic-like protein 1

early development regulator 1 (homolog of polyhomeotic 1)

PHC1 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	PHC1	P78364	SFMBT2	Homo sapiens	Q5VUG0	Anti Tag CoIP	33961781
种属内	PHC1	P78364	SFMBT2	Homo sapiens	Q5VUG0	Anti Tag CoIP	28514442
种属内	PHC1	P78364	SFMBT2	Homo sapiens	Q5VUG0	Validated Y2H	32296183
种属内	PHC1	P78364	PCGF3	Homo sapiens	Q3KNV8-2	Y2H Prey Pooling	32296183
种属内	PHC1	P78364	PCGF3	Homo sapiens	Q3KNV8-2	Validated Y2H	32296183
种属内	PHC1	P78364	PCGF3	Homo sapiens	Q3KNV8-2	Y2H Array	32296183
种属内	PHC1	P78364	PCGF2	Homo sapiens	P35227	Y2H Prey Pooling	32296183
种属内	PHC1	P78364	PCGF2	Homo sapiens	P35227	TAP	27705803
种属内	PHC1	P78364	PCGF2	Homo sapiens	P35227	Y2H Array	32296183
种属内	PHC1	P78364	PCGF2	Homo sapiens	P35227	Lambda Y2H	23523425
种属内	PHC1	P78364	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
种属内	PHC1	P78364	RNF4	Homo sapiens	P78317	Y2H Array	32296183
种属内	PHC1	P78364	BMI1	Homo sapiens	P35226	TAP	27705803
种属内	PHC1	P78364	BMI1	Homo sapiens	P35226	Anti Tag CoIP	33961781
种属内	PHC1	P78364	BMI1	Homo sapiens	P35226	Anti Tag CoIP	28514442
种属内	PHC1	P78364	BMI1	Homo sapiens	P35226	Lambda Y2H	23523425
种属内	PHC1	P78364	PHC2	Homo sapiens	Q8IXK0	Anti Tag CoIP	33961781
种属内	PHC1	P78364	PHC2	Homo sapiens	Q8IXK0	Y2H Pooling	16189514
种属内	PHC1	P78364	SDCBP2	Homo sapiens	Q9H190	Validated Y2H	32296183
种属内	PHC1	P78364	SDCBP2	Homo sapiens	Q9H190	Y2H Prey Pooling	32296183
种属内	PHC1	P78364	FAM9A	Homo sapiens	Q8IZU1	Validated Y2H	32296183
种属内	PHC1	P78364	FAM9A	Homo sapiens	Q8IZU1	Y2H Prey Pooling	32296183
种属内	PHC1	P78364	FAM9A	Homo sapiens	Q8IZU1	Y2H Array	32296183

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

Microcephaly 11, Primary, Autosomal Recessive

MCPH11	Primary Autosomal Recessive Microcephaly 11
Microcephaly, Type 11, Primary, Autosomal Recessive

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Autotopagnosia

Body-Image Agnosia

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

Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities

Microcephaly 15, Primary, Autosomal Recessive	NEDMISBA
Mcph15	Primary Autosomal Recessive Microcephaly 15
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities

Akinetopsia

Pontocerebellar Hypoplasia, Type 12

PCH12	Pontocerebellar Hypoplasia Type 12
Coasy-Related Pontocerebellar Hypoplasia	Pontocerebellar Hypoplasia 12
Doid:0112327	Hypoplasia, Pontocerebellar, Type 12

Microcephaly 12, Primary, Autosomal Recessive

MCPH12	Primary Autosomal Recessive Microcephaly 12
Microcephaly, Type 12, Primary, Autosomal Recessive

Microcephaly 16, Primary, Autosomal Recessive

MCPH16

Primary Autosomal Recessive Microcephaly 16

Microcephaly 9, Primary, Autosomal Recessive

MCPH9	Primary Autosomal Recessive Microcephaly 9
Microcephaly, Type 9, Primary, Autosomal Recessive

Microcephaly 18, Primary, Autosomal Dominant

MCPH18

Primary Autosomal Dominant Microcephaly 18

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Bainbridge-Ropers Syndrome

BRPS	Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome
Asxl3-Related Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS10409	PHC1 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	PHC1	VGNC	VGNC:32810
Canis familiaris	PHC1	VGNC	VGNC:44477
Macaca mulatta	PHC1	VGNC	VGNC:75902
Rattus norvegicus	PHC1	RGD	RGD:1309203
Mus musculus	PHC1	MGD	MGI:103248
Felis catus	PHC1	VGNC	VGNC:64133

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