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PHC1 - polyhomeotic homolog 1 Gene

Also Known as EDR1; HPH1; RAE28; MCPH11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1911

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	23418308	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of PRC1 complex	IDA IDA: Inferred from direct assay	12167701	GOA
part of PcG protein complex	IDA IDA: Inferred from direct assay	21282530	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21282530	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

PHC1 Protein Structure

zf-FCS

SAM_1

0
200
400
600
800
1004 a.a.

Protein Preferred Names	Protein Names
polyhomeotic-like protein 1	early development regulator 1 (homolog of polyhomeotic 1)

PHC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PHC1	P78364	SFMBT2	Homo sapiens	Q5VUG0	Anti Tag CoIP	33961781
Intra	PHC1	P78364	SFMBT2	Homo sapiens	Q5VUG0	Anti Tag CoIP	28514442
Intra	PHC1	P78364	SFMBT2	Homo sapiens	Q5VUG0	Validated Y2H	32296183
Intra	PHC1	P78364	PCGF3	Homo sapiens	Q3KNV8-2	Y2H Prey Pooling	32296183
Intra	PHC1	P78364	PCGF3	Homo sapiens	Q3KNV8-2	Validated Y2H	32296183
Intra	PHC1	P78364	PCGF3	Homo sapiens	Q3KNV8-2	Y2H Array	32296183
Intra	PHC1	P78364	PCGF2	Homo sapiens	P35227	Y2H Prey Pooling	32296183
Intra	PHC1	P78364	PCGF2	Homo sapiens	P35227	TAP	27705803
Intra	PHC1	P78364	PCGF2	Homo sapiens	P35227	Y2H Array	32296183
Intra	PHC1	P78364	PCGF2	Homo sapiens	P35227	Lambda Y2H	23523425
Intra	PHC1	P78364	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
Intra	PHC1	P78364	RNF4	Homo sapiens	P78317	Y2H Array	32296183
Intra	PHC1	P78364	BMI1	Homo sapiens	P35226	TAP	27705803
Intra	PHC1	P78364	BMI1	Homo sapiens	P35226	Anti Tag CoIP	33961781
Intra	PHC1	P78364	BMI1	Homo sapiens	P35226	Anti Tag CoIP	28514442
Intra	PHC1	P78364	BMI1	Homo sapiens	P35226	Lambda Y2H	23523425
Intra	PHC1	P78364	PHC2	Homo sapiens	Q8IXK0	Anti Tag CoIP	33961781
Intra	PHC1	P78364	PHC2	Homo sapiens	Q8IXK0	Y2H Pooling	16189514
Intra	PHC1	P78364	SDCBP2	Homo sapiens	Q9H190	Validated Y2H	32296183
Intra	PHC1	P78364	SDCBP2	Homo sapiens	Q9H190	Y2H Prey Pooling	32296183
Intra	PHC1	P78364	FAM9A	Homo sapiens	Q8IZU1	Validated Y2H	32296183
Intra	PHC1	P78364	FAM9A	Homo sapiens	Q8IZU1	Y2H Prey Pooling	32296183
Intra	PHC1	P78364	FAM9A	Homo sapiens	Q8IZU1	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10409	PHC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	PHC1	NCBI