Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54623
Gene name	PAF1 component of Paf1/RNA polymerase II complex
Gene symbol	PAF1
Synonyms (NCBI Gene)	F23149_1PD2
Chromosome	19
Chromosome location	19q13.2
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. Alter

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029230	hsa-miR-26b-5p	Microarray	19088304
MIRT030422	hsa-miR-24-3p	Microarray	19748357
MIRT044571	hsa-miR-320a	CLASH	23622248
MIRT040209	hsa-miR-615-3p	CLASH	23622248
MIRT036438	hsa-miR-1226-3p	CLASH	23622248
MIRT036116	hsa-miR-1296-5p	CLASH	23622248
MIRT1210227	hsa-miR-146b-3p	CLIP-seq
MIRT1210228	hsa-miR-1587	CLIP-seq
MIRT1210229	hsa-miR-202	CLIP-seq
MIRT1210230	hsa-miR-3140-5p	CLIP-seq
MIRT1210231	hsa-miR-3173-5p	CLIP-seq
MIRT1210232	hsa-miR-362-5p	CLIP-seq
MIRT1210233	hsa-miR-365	CLIP-seq
MIRT1210234	hsa-miR-3663-3p	CLIP-seq
MIRT1210235	hsa-miR-378g	CLIP-seq
MIRT1210236	hsa-miR-3913-3p	CLIP-seq
MIRT1210237	hsa-miR-4292	CLIP-seq
MIRT1210238	hsa-miR-4492	CLIP-seq
MIRT1210239	hsa-miR-4498	CLIP-seq
MIRT1210240	hsa-miR-4539	CLIP-seq
MIRT1210241	hsa-miR-455-5p	CLIP-seq
MIRT1210242	hsa-miR-4656	CLIP-seq
MIRT1210243	hsa-miR-4675	CLIP-seq
MIRT1210244	hsa-miR-4731-5p	CLIP-seq
MIRT1210245	hsa-miR-4741	CLIP-seq
MIRT1210246	hsa-miR-489	CLIP-seq
MIRT1210247	hsa-miR-500b	CLIP-seq
MIRT1210248	hsa-miR-637	CLIP-seq
MIRT1210249	hsa-miR-762	CLIP-seq
MIRT1210250	hsa-miR-874	CLIP-seq
MIRT2060299	hsa-miR-1275	CLIP-seq
MIRT2060300	hsa-miR-1276	CLIP-seq
MIRT2060301	hsa-miR-3120-3p	CLIP-seq
MIRT2060302	hsa-miR-3192	CLIP-seq
MIRT2060303	hsa-miR-3689a-3p	CLIP-seq
MIRT2060304	hsa-miR-3689c	CLIP-seq
MIRT2060305	hsa-miR-4260	CLIP-seq
MIRT2060306	hsa-miR-4271	CLIP-seq
MIRT2060307	hsa-miR-4311	CLIP-seq
MIRT2060308	hsa-miR-4464	CLIP-seq
MIRT2060309	hsa-miR-4477a	CLIP-seq
MIRT1210238	hsa-miR-4492	CLIP-seq
MIRT1210239	hsa-miR-4498	CLIP-seq
MIRT2060310	hsa-miR-4505	CLIP-seq
MIRT2060311	hsa-miR-4665-5p	CLIP-seq
MIRT2060312	hsa-miR-4688	CLIP-seq
MIRT2060313	hsa-miR-4725-3p	CLIP-seq
MIRT2060314	hsa-miR-4728-5p	CLIP-seq
MIRT2060315	hsa-miR-4748	CLIP-seq
MIRT2060316	hsa-miR-545	CLIP-seq
MIRT2060317	hsa-miR-583	CLIP-seq
MIRT1210249	hsa-miR-762	CLIP-seq
MIRT2060299	hsa-miR-1275	CLIP-seq
MIRT2288750	hsa-miR-2110	CLIP-seq
MIRT2060301	hsa-miR-3120-3p	CLIP-seq
MIRT2060305	hsa-miR-4260	CLIP-seq
MIRT2060306	hsa-miR-4271	CLIP-seq
MIRT2060308	hsa-miR-4464	CLIP-seq
MIRT2060309	hsa-miR-4477a	CLIP-seq
MIRT2288751	hsa-miR-4651	CLIP-seq
MIRT2060311	hsa-miR-4665-5p	CLIP-seq
MIRT2060313	hsa-miR-4725-3p	CLIP-seq
MIRT2060315	hsa-miR-4748	CLIP-seq
MIRT2288752	hsa-miR-491-5p	CLIP-seq
MIRT2288753	hsa-miR-495	CLIP-seq
MIRT2060316	hsa-miR-545	CLIP-seq
MIRT2288754	hsa-miR-608	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000993	Function	RNA polymerase II complex binding	IBA
GO:0000993	Function	RNA polymerase II complex binding	IDA	15923622
GO:0001650	Component	Fibrillar center	IDA
GO:0001711	Process	Endodermal cell fate commitment	IEA
GO:0001711	Process	Endodermal cell fate commitment	ISS
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	15923622, 16024656, 16307923, 19136632, 19410543, 20178742, 20541477, 21516116, 22419161, 24981860, 25277244, 25416956, 26496610, 28514442, 29774127, 30367041, 32296183, 33961781, 34819669
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	22046413
GO:0006368	Process	Transcription elongation by RNA polymerase II	IDA	20178742
GO:0006368	Process	Transcription elongation by RNA polymerase II	IEA
GO:0016020	Component	Membrane	IDA	22046413
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016593	Component	Cdc73/Paf1 complex	IBA
GO:0016593	Component	Cdc73/Paf1 complex	IDA	16307923, 20178742
GO:0016593	Component	Cdc73/Paf1 complex	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0031124	Process	MRNA 3'-end processing	IMP	21329879
GO:0034504	Process	Protein localization to nucleus	IMP	22046413
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IDA	20541477
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16307923
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	ISS
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IMP	15923622

MIM	HGNC	e!Ensembl
610506	25459	ENSG00000006712

Q8N7H5

Protein name

RNA polymerase II-associated factor 1 homolog (hPAF1) (Pancreatic differentiation protein 2)

Protein function

Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase

PDB

4M6T , 5ZYQ , 6GMH , 6TED , 7OOP , 7OPC , 7OPD , 7UNC , 7UND , 8A3Y , 9EGX , 9EGY , 9EGZ , 9EH0 , 9EH2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03985	Paf1	28 → 438	Paf1	Family

Sequence

MAPTIQTQAQREDGHRPNSHRTLPERSGVVCRVKYCNSLPDIPFDPKFITYPFDQNRFVQ
YKATSLEKQHKHDLLTEPDLGVTIDLINPDTYRIDPNVLLDPADEKLLEEEIQAPTSSKR
SQQHAKVVPWMRKTEYISTEFNRYGISNEKPEVKIGVSVKQQFTEEEIYKDRDSQITAIE
KTFEDAQKSISQHYSKPRVTPVEVMPVFPDFKMWINPCAQVIFDSDPAPKDTSGAAALEM
MSQAMIRGMMDEEGNQFVAYFLPVEETLKKRKRDQEEEMDYAPDDVYDYKIAREYNWNVK
NKASKGYEENYFFIFREGDGVYYNELETRVRLSKRRAKAGVQSGTNALLVVKHRDMNEKE
LEAQEARKAQLENHEPEEEEEEEMETEEKEAGGSDEEQEKGSSSEKEGSEDEHSGSESER
EEGDRDEASDKSGSGEDESSEDEARAARDKEEIFGSDADSEDDADSDDEDRGQAQGGSDN
DSDSGSNGGGQRSRSHSRSASPFPSGSEHSAQEDGSEAAASDSSEADSDSD

Sequence length

531

Interactions

View interactions

	Reactome
			Formation of RNA Pol II elongation complex RNA Polymerase II Pre-transcription Events RNA Polymerase II Transcription Elongation E3 ubiquitin ligases ubiquitinate target proteins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 1A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	29216566		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29864419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	29216566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30525025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30525025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34570619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28122356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29216566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28358339, 30146941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	BEFREE	20304979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37626123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29774127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22858862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22858862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30525025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30525025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28122356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16491129, 22046413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17599057, 22858862, 28657910, 28849726, 29023102, 29311159, 29564528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15923622, 28122356, 28358339, 28657910, 31689624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	25099282		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28122356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28122356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16491129, 22046413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34570619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisomal Disorders	Peroxisomal disorder	Pubtator	8628321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	8993569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32471508, 37754347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	25099282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	7600573, 8507691		★★★★★ ★☆☆☆☆ Found in Text Mining only

PAF1 (PAF1 component of Paf1/RNA polymerase II complex)