PAF1 - PAF1 homolog, Paf1/RNA polymerase II complex component Gene

Homo sapiens

Also known as PD2; F23149_1

Gene ID: 54623 | Gene type: protein coding

About PAF1

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:39,385,629-39,391,106 (from NCBI)

This gene has 8 transcripts (splice variants) and 187 orthologues. Ubiquitous expression in testis (RPKM 32.1), ovary (RPKM 17.7) and 25 other tissues.

Summary

This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

PAF1 Products(2)

mRNA	Protein	Name
NM_001256826.2	NP_001243755.1	RNA polymerase II-associated factor 1 homolog isoform 2
NM_019088.4	NP_061961.2	RNA polymerase II-associated factor 1 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA polymerase II complex binding	IDA IDA: Inferred from direct assay	15923622	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15923622	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	21329879	GOA
involved in negative regulation of myeloid cell differentiation	IDA IDA: Inferred from direct assay	20541477	GOA
involved in positive regulation of cell cycle G1/S phase transition	IMP IMP: Inferred from mutant phenotype	15923622	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16307923	GOA
involved in protein localization to nucleus	IMP IMP: Inferred from mutant phenotype	22046413	GOA
involved in transcription elongation by RNA polymerase II	IDA IDA: Inferred from direct assay	20178742	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Cdc73/Paf1 complex	IDA IDA: Inferred from direct assay	16307923	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22046413	GOA
located in membrane	IDA IDA: Inferred from direct assay	22046413	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

PAF1 Protein Structure

Paf1

0
100
200
300
400
500
531 a.a.

Protein Preferred Names

Protein Names

RNA polymerase II-associated factor 1 homolog

Paf1, RNA polymerase II associated factor, homolog

Related Diseases

Diseases

Alias

Diamond-Blackfan Anemia 3

DBA3	Anemia, Diamond-Blackfan, 3
Rps24-Related Diamond-Blackfan Anemia	Anemia Diamond-Blackfan 3
Anemia, Diamond-Blackfan, Type 3

Influenza

Flu	Influenza With Non-Respiratory Manifestation
Influenza With Other Manifestations	Influenza, Human
Influenza, Susceptibility To	Seasonal Influenza, Virus Identified

Dengue Virus

Dengue Virus, Susceptibility To	Dengue Fever, Protection Against
Dengue Fever

Otopalatodigital Syndrome, Type Ii

Otopalatodigital Syndrome Type 2	Faciopalatoosseous Syndrome
OPD2	Opd Ii Syndrome
Opd Syndrome 2	Cranioorodigital Syndrome
Fpo	Oto-Palato-Digital Syndrome, Type Ii
Andre Syndrome	Oto-Palato-Digital Syndrome Type 2
Otopalatodigital Syndrome Type Ii	Cranio-Oro-Digital Syndrome
Opd 2 Syndrome	Opd Syndrome, Type 2
Taybi Syndrome	Otopalatodigital Syndrome 2
Oto-Palato-Digital Syndrome, Type 2	Oto-Palato-Digital Syndrome Type 1

Retinitis Pigmentosa 40

RP40	Retinitis Pigmentosa-40
Retinitis Pigmentosa, Type 40

Malignant Fibrous Histiocytoma Of Bone

Malignant Fibrous Histiocytoma Of The Bone

Myopathy, Distal, 4

Distal Myopathy With Posterior Leg And Anterior Hand Involvement	MPD4
Williams Distal Myopathy	Distal Muscular Dystrophy 4
Distal Abd-Filaminopathy	Distal Myopathy 4
Myopathy, Distal, Type 4

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 (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-160267	iPAF1C	Inhibitor	99.08%	Unkown
HY-P3103A	PINT-87aa TFA		≥99.0%	Unkown
HY-130345S	C18-PAF-d4		/	Unkown
HY-N2247A	(+)-Guaiacin		/	Unkown
HY-P3103	PINT-87aa		/	Unkown
HY-RS09966	PAF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-106062	CV 3988		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PAF1	RGD	RGD:1306219
Mus musculus	PAF1	MGD	MGI:1923988
Felis catus	PAF1	VGNC	VGNC:64024
Bos taurus	PAF1	VGNC	VGNC:96701
Macaca mulatta	PAF1	VGNC	VGNC:81492
Others	PAF1	NCBI

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