2. Gene
  3. PHC1 - polyhomeotic homolog 1 Gene

PHC1 - polyhomeotic homolog 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence Reference Source
involved in chromatin remodeling IMP
IMP: Inferred from mutant phenotype
23418308 GOA
Cellular Component GO Annotation Evidence Reference 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

zf-FCS: MYM-type Zinc finger with FCS sequence motif (794 - 827)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (939 - 1002)

  • 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

Related Agents

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 Sets / 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