Q8N7H5 (PAF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
RNA polymerase II-associated factor 1 homolog
Short name=hPAF1

Alternative name(s):
Pancreatic differentiation protein 2

Gene names

Name:	PAF1
Synonyms:	PD2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	531 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	The mammalian PAF1 complex is a multifunctional complex. The PAF1 complex interacts with RNA polymerase II and may be involved in both initiation and elongation, and in histone methylation and RNA processing. Has oncogenic activity in vivo and in vitro. Ref.1
Subunit structure	Component of the mammalian PAF1 complex, which consists of, at least, CDC73, PAF1, LEO1 and CTR9. Interacts directly with POLR2A/RNA polymerase II and CDC73. Ref.1 Ref.6
Subcellular location	Nucleus. Note: Punctuate distribution throughout the nucleus except in nucleoli and the perinuclear chromatin. Ref.1
Sequence similarities	Belongs to the PAF1 family.
Sequence caution	The sequence AAC25503.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence EAW56880.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence EAW56881.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Tumor suppressor
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	histone H2B ubiquitination Inferred from direct assay. Source: UniProtKB histone monoubiquitination Inferred from direct assay. Source: UniProtKB regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	Cdc73/Paf1 complex Inferred from direct assay. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CDC73	Q6P1J9	13	EBI-2607770,EBI-930143
CTR9	Q6PD62	15	EBI-2607770,EBI-1019583
LEO1	Q8WVC0	7	EBI-2607770,EBI-932432
MLL	Q03164	4	EBI-2607770,EBI-591370
RTF1	Q92541	13	EBI-2607770,EBI-1055239

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N7H5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8N7H5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     17-26: Missing.
     190-212: Missing.
     395-508: DEEQEKGSSS...SASPFPSGSE → VMLILRTMPT...QQSTFLVVCL

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 531	531	RNA polymerase II-associated factor 1 homolog		PRO_0000326400
Regions
	Coiled coil	352 – 400	49	Potential
	Compositional bias	358 – 452	95	Glu-rich
Amino acid modifications
	Modified residue	456	1	Phosphoserine Ref.7 Ref.8
	Modified residue	460	1	Phosphoserine Ref.7 Ref.8
	Modified residue	466	1	Phosphoserine Ref.7 Ref.8
Natural variations
	Alternative sequence	17 – 26	10	Missing in isoform 2.		VSP_032650
	Alternative sequence	190 – 212	23	Missing in isoform 2.		VSP_032651
	Alternative sequence	395 – 508	114	DEEQE…PSGSE → VMLILRTMPTLMMRTEDRPK VAVTMIQTAAAMGVASGAGA TAAAPVPSPVAASTRPRRMA VKLQLLIPVKLIVTVTESQG IQGWFRHHYCEQQSTFLVVC L in isoform 2.		VSP_032652
Experimental info
	Sequence conflict	58	1	F → I in BAA92020. Ref.3
	Sequence conflict	68	1	K → R in BAC05305. Ref.3
	Sequence conflict	152	1	E → G in BAA92020. Ref.3
	Sequence conflict	378	1	E → G in BAA92020. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 2. Checksum: 756F800AA64255D6	FASTA	531	59,976
	10 20 30 40 50 60 MAPTIQTQAQ REDGHRPNSH RTLPERSGVV CRVKYCNSLP DIPFDPKFIT YPFDQNRFVQ 70 80 90 100 110 120 YKATSLEKQH KHDLLTEPDL GVTIDLINPD TYRIDPNVLL DPADEKLLEE EIQAPTSSKR 130 140 150 160 170 180 SQQHAKVVPW MRKTEYISTE FNRYGISNEK PEVKIGVSVK QQFTEEEIYK DRDSQITAIE 190 200 210 220 230 240 KTFEDAQKSI SQHYSKPRVT PVEVMPVFPD FKMWINPCAQ VIFDSDPAPK DTSGAAALEM 250 260 270 280 290 300 MSQAMIRGMM DEEGNQFVAY FLPVEETLKK RKRDQEEEMD YAPDDVYDYK IAREYNWNVK 310 320 330 340 350 360 NKASKGYEEN YFFIFREGDG VYYNELETRV RLSKRRAKAG VQSGTNALLV VKHRDMNEKE 370 380 390 400 410 420 LEAQEARKAQ LENHEPEEEE EEEMETEEKE AGGSDEEQEK GSSSEKEGSE DEHSGSESER 430 440 450 460 470 480 EEGDRDEASD KSGSGEDESS EDEARAARDK EEIFGSDADS EDDADSDDED RGQAQGGSDN 490 500 510 520 530 DSDSGSNGGG QRSRSHSRSA SPFPSGSEHS AQEDGSEAAA SDSSEADSDS D
	Isoform 2 [UniParc]. Checksum: 619FCF62CF34627D	FASTA	485	55,039
	10 20 30 40 50 60 MAPTIQTQAQ REDGHRSGVV CRVKYCNSLP DIPFDPKFIT YPFDQNRFVQ YKATSLEKQH 70 80 90 100 110 120 KHDLLTEPDL GVTIDLINPD TYRIDPNVLL DPADEKLLEE EIQAPTSSKR SQQHAKVVPW 130 140 150 160 170 180 MRKTEYISTE FNRYGISNEK PEVKIGVSVK QQFTEEEIYK DRDSQITAIE KTFEDAQKSM 190 200 210 220 230 240 WINPCAQVIF DSDPAPKDTS GAAALEMMSQ AMIRGMMDEE GNQFVAYFLP VEETLKKRKR 250 260 270 280 290 300 DQEEEMDYAP DDVYDYKIAR EYNWNVKNKA SKGYEENYFF IFREGDGVYY NELETRVRLS 310 320 330 340 350 360 KRRAKAGVQS GTNALLVVKH RDMNEKELEA QEARKAQLEN HEPEEEEEEE METEEKEAGG 370 380 390 400 410 420 SVMLILRTMP TLMMRTEDRP KVAVTMIQTA AAMGVASGAG ATAAAPVPSP VAASTRPRRM 430 440 450 460 470 480 AVKLQLLIPV KLIVTVTESQ GIQGWFRHHY CEQQSTFLVV CLHSAQEDGS EAAASDSSEA DSDSD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human homologue of the RNA polymerase II-associated factor 1 (hPaf1), localized on the 19q13 amplicon, is associated with tumorigenesis." Moniaux N., Nemos C., Schmied B.M., Chauhan S.C., Deb S., Morikane K., Choudhury A., Vanlith M., Sutherlin M., Sikela J.M., Hollingsworth M.A., Batra S.K. Oncogene 25:3247-3257(2006) [PubMed: 16491129] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, INTERACTION WITH POLR2A, FUNCTION. Tissue: Fetal pancreas.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[3]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Muscle and Placenta.
[6]	"The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II." Yart A., Gstaiger M., Wirbelauer C., Pecnik M., Anastasiou D., Hess D., Krek W. Mol. Cell. Biol. 25:5052-5060(2005) [PubMed: 15923622] [Abstract] Cited for: INTERACTION WITH CDC73 IN PAF1/RNA POLYMERASE II COMPLEX.
[7]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-456; SER-460 AND SER-466, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-456; SER-460 AND SER-466, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ401156 mRNA. Translation: CAC20564.1. AK001985 mRNA. Translation: BAA92020.1. AK098423 mRNA. Translation: BAC05305.1. AC005239 Genomic DNA. Translation: AAC25503.1. Sequence problems. CH471126 Genomic DNA. Translation: EAW56880.1. Sequence problems. CH471126 Genomic DNA. Translation: EAW56881.1. Sequence problems. BC000017 mRNA. Translation: AAH00017.1. BC013402 mRNA. Translation: AAH13402.1.
IPI	IPI00300333. IPI00384593.
RefSeq	NP_061961.2. NM_019088.2.
UniGene	Hs.466714.
3D structure databases
ProteinModelPortal	Q8N7H5.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-48673N.
IntAct	Q8N7H5. 11 interactions.
STRING	Q8N7H5.
Polymorphism databases
DMDM	182670295.
Proteomic databases
PRIDE	Q8N7H5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000221265; ENSP00000221265; ENSG00000006712.
GeneID	54623.
KEGG	hsa:54623.
UCSC	uc002old.1. human. uc002ole.1. human.
Organism-specific databases
CTD	54623.
GeneCards	GC19M039876.
H-InvDB	HIX0015116.
HGNC	HGNC:25459. PAF1.
MIM	610506. gene.
neXtProt	NX_Q8N7H5.
PharmGKB	PA142671206.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG15724.
GeneTree	ENSGT00390000001474.
HOGENOM	HBG320593.
HOVERGEN	HBG053131.
InParanoid	Q8N7H5.
OMA	RGSDNDS.
PhylomeDB	Q8N7H5.
Gene expression databases
ArrayExpress	Q8N7H5.
Bgee	Q8N7H5.
CleanEx	HS_PAF1.
Genevestigator	Q8N7H5.
Family and domain databases
InterPro	IPR007133. RNA_pol_II-assoc_Paf1. [Graphical view]
KO	K15174.
PANTHER	PTHR23188. Paf1. 1 hit.
Pfam	PF03985. Paf1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	57158.
SOURCE	Search...

Entry information

Entry name

PAF1_HUMAN

Accession

Primary (citable) accession number: Q8N7H5
Secondary accession number(s): O75239, Q9H166, Q9NUU9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	April 8, 2008
Last modified:	January 25, 2012
This is version 57 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.