PHC1 - polyhomeotic homolog 1 Gene

Homo sapiens

Also known as EDR1; HPH1; RAE28; MCPH11

Gene ID: 1911 | Gene type: protein coding

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

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)

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

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