PHF1 - PHD finger protein 1 Gene

Homo sapiens

Also known as PCL1; PHF2; hPHF1; MTF2L2; TDRD19C

Gene ID: 5252 | Gene type: protein coding

About PHF1

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:33,410,412-33,416,439 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 193 orthologues and 2 paralogues. Ubiquitous expression in ovary (RPKM 47.5), testis (RPKM 44.7) and 25 other tissues.

Summary

This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

PHF1 Products(2)

mRNA	Protein	Name
NM_002636.5	NP_002627.2	PHD finger protein 1 isoform a
NM_024165.3	NP_077084.2	PHD finger protein 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone methyltransferase binding	IPI IPI: Inferred from physical interaction	29628311	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	29628311	GOA
enables methylated histone binding	IDA IDA: Inferred from direct assay	23142980	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11571280	GOA
enables transcription corepressor binding	IPI IPI: Inferred from physical interaction	29628311	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA repair-dependent chromatin remodeling	IDA IDA: Inferred from direct assay	23142980	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ESC/E(Z) complex	IDA IDA: Inferred from direct assay	23273982	GOA
colocalizes with centrosome	IDA IDA: Inferred from direct assay	20873783	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23273982	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	23142980	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

PHF1 Protein Structure

PHD

Mtf2_C

0
100
200
300
400
500
567 a.a.

Protein Preferred Names

Protein Names

PHD finger protein 1

hPCl1

Related Diseases

Diseases

Alias

Ossifying Fibromyxoid Tumor

Ossifying Fibromyxoid Tumour

Ossifying Fibromyxoma

Endometrial Stromal Nodule

Endometrial Stromal Tumor

Endometrial Stromal Neoplasm

Endometrial Stromal Tumors

Myxoid Leiomyosarcoma

Leiomyosarcoma, Myxoid

Endometrial Stromal Sarcoma

Ess	Endometrial Stromal Sarcoma, High Grade
Undifferentiated Endometrial Sarcoma	Stromal Sarcoma Of The Corpus Uteri
Sarcoma Endometrial Stromal	Sarcoma, Endometrial Stromal
Undifferentiated Stromal Sarcoma

Cerebral Amyloid Angiopathy, Cst3-Related

Cerebral Amyloid Angiopathy	Hereditary Cerebral Hemorrhage With Amyloidosis
Hchwa	Hereditary Cystatin C Amyloid Angiopathy
Cerebral Amyloid Angiopathy, Familial	Amyloidosis, Cerebroarterial, Icelandic Type
Amyloidosis Vi	Cerebral Hemorrhage, Hereditary, With Amyloidosis
Cst3-Related Cerebral Amyloid Angiopathy	Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant
Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant	Caa, Familial
Cerebral Amyloid Angiopathy, Genetic	Acys Amyloidosis
Cst3-Related Amyloidosis	Cystatin Amyloidosis
Hchwa, Icelandic Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type
Amyloidosis 6	AMYL6
Acys	Caa
Cerebral Amyloid Angiopathy Cst3-Related	Cerebroarterial Amyloidosis Icelandic Type
Cystatin C Amyloidosis	Hccaa
Hchwai	Hchwa-I
Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type	Cerebral Amyloid Angiopathy Familial
Angiopathy, Amyloid, Cerebral, Cst3-Related	Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Familial Cerebral Amyloid Angiopathy	Cerebral Amyloid Angiopathy, Hereditary

Epilepsy, Idiopathic Generalized 2

EIG2	Epilepsy, Idiopathic Generalized, Susceptibility To, 2
Idiopathic Generalized Epilepsy 2	Epilepsy, Idiopathic Generalized Locus On Chromosome 14
Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14

Adenosarcoma

Mullerian Adenosarcoma

Cellular Leiomyoma

Pick Disease Of Brain

Pick Disease	Pick'S Disease
Pick Disease Of The Brain	Lobar Atrophy Of Brain
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

Vaginal Endometrial Stromal Sarcoma

Vagina Sarcoma

Sarcoma Of The Vagina

Vaginal Sarcoma

Supranuclear Palsy, Progressive, 1

Progressive Supranuclear Palsy	Steele-Richardson-Olszewski Syndrome
Supranuclear Palsy, Progressive	Progressive Supranuclear Ophthalmoplegia
Psp	PSNP1
Familial Progressive Supranuclear Palsy	Richardson'S Syndrome
Psp Syndrome	Progressive Supranuclear Palsy 1
Supranuclear Palsy Progressive	Ophthalmoplegia, Supranuclear, Progressive
Steele-Richardson-Olszewksi Syndrome

Ovarian Sex-Cord Stromal Tumor

Ovarian Sex Cord Tumor With Annular Tubules	Ovarian Sex Cord-Stromal Tumor
Stromal Tumor Of Ovary

Arteriolosclerosis

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1

Guam Disease	Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam
Als-Pdc	Lytico-Bodig Disease
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex	Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To	Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome	Parkinsonism-Dementia-Als Complex
Pdals	Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam
Parkinson-Dementia Complex Of Guam	G-Pdc
Guam Parkinsonism-Dementia Complex	ALS-PDC1
Als/Pdc Of Guam	Amyotrophic Lateral Sclerosis
Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1	Amyotrophic Lateral Sclerosis, Guam Form
Parkinsonian Disorders

Dementia, Lewy Body

Lewy Body Dementia	Lewy Body Disease
Diffuse Lewy Body Disease	Dementia With Lewy Bodies
DLB	Autosomal Dominant Diffuse Lewy Body Disease
Cortical Lewy Body Disease	Dementia, Lewy Body, Susceptibility To
Lewy Body Dementia, Susceptibility To	Senile Dementia Of The Lewy Body Type
Dementia Of The Lewy Body Type	Lbd
Diffuse Lewy Body Disease With Gaze Palsy	Dysphasic Dementia Hereditary
Lewy Body Type Senile Dementia	Lewy Body Variant Of Alzheimer Disease
Lewy Bodies	Lewy Body
Dlbd - [Diffuse Lewy Body Disease]	Clbd - [Cortical Lewy Body Disease]

Movement Disease

Movement Disorders

Movement Disorder

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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-RS10413	PHF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PHF1	MGD	MGI:98647
Rattus norvegicus	PHF1	RGD	RGD:1303205
Macaca mulatta	PHF1	VGNC	VGNC:75973
Canis familiaris	PHF1	VGNC	VGNC:44479
Felis catus	PHF1	VGNC	VGNC:102482
Bos taurus	PHF1	VGNC	VGNC:32812

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