Reviewed, UniProtKB/Swiss-Prot O94921 (PFTK1_HUMAN)

Names and origin

Protein names

Recommended name:
    Serine/threonine-protein kinase PFTAIRE-1
    EC=2.7.11.22

Gene names

Name:	PFTK1
Synonyms:	KIAA0834

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	469 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in meiosis as well as in neuron differentiation and/or function By similarity.
Catalytic activity	ATP + a protein = ADP + a phosphoprotein.
Subcellular location	Cytoplasm. Nucleus.
Tissue specificity	Highly expressed in brain, pancreas, kidney, heart, testis and ovary. Also detected at lower levels in other tissues except in spleen and thymus where expression is barely detected.
Sequence similarities	Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Contains 1 protein kinase domain.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Nucleotide-binding
Molecular function	Kinase Serine/threonine-protein kinase Transferase
Gene Ontology (GO)
Biological process	protein amino acid phosphorylation Inferred from electronic annotation. Source: InterPro
Cellular component	nucleus Traceable author statement. Source: ProtInc
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro cyclin-dependent protein kinase activity Inferred from electronic annotation. Source: EC protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CCND3	P30281	4	EBI-1043945,EBI-375013
CDKN1A	P38936	4	EBI-1043945,EBI-375077
IGHA2	P01877	1	EBI-1043945,EBI-1044357
YWHAB	P31946	5	EBI-1043945,EBI-359815
YWHAE	P62258	3	EBI-1043945,EBI-356498
YWHAH	Q04917	3	EBI-1043945,EBI-306940
YWHAQ	P27348	3	EBI-1043945,EBI-359854

Alternative products

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

Isoform 1 (identifier: O94921-1)

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: O94921-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MCDLIEPQPAEKIGKMKKLRRTLSESFSRIALKKDDTTFDE → MHGYFGCNAAAEPGYSAFVGTPQ

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 469	469	Serine/threonine-protein kinase PFTAIRE-1		PRO_0000086506
Regions
	Domain	135 – 419	285	Protein kinase
	Nucleotide binding	141 – 149	9	ATP By similarity
Sites
	Active site	256	1	Proton acceptor By similarity
	Binding site	164	1	ATP By similarity
Natural variations
	Alternative sequence	1 – 41	41	MCDLI…TTFDE → MHGYFGCNAAAEPGYSAFVG TPQ in isoform 2.		VSP_004803
	Natural variant	432	1	M → I in an ovarian mucinous carcinoma; somatic mutation.		VAR_046765
	Natural variant	463	1	S → R		VAR_046766
Experimental info
	Sequence conflict	158	1	G → W in AAG43234. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 18, 2006. Version 3. Checksum: 32CF9B9B7BD9CE0E	FASTA	469	53,057
	10 20 30 40 50 60 MCDLIEPQPA EKIGKMKKLR RTLSESFSRI ALKKDDTTFD EICVTKMSTR NCQGMDSVIK 70 80 90 100 110 120 PLDTIPEDKK VRVQRTQSTF DPFEKPANQV KRVHSENNAC INFKTSSTGK ESPKVRRHSS 130 140 150 160 170 180 PSSPTSPKFG KADSYEKLEK LGEGSYATVY KGKSKVNGKL VALKVIRLQE EEGTPFTAIR 190 200 210 220 230 240 EASLLKGLKH ANIVLLHDII HTKETLTLVF EYVHTDLCQY MDKHPGGLHP DNVKLFLFQL 250 260 270 280 290 300 LRGLSYIHQR YILHRDLKPQ NLLISDTGEL KLADFGLARA KSVPSHTYSN EVVTLWYRPP 310 320 330 340 350 360 DVLLGSTEYS TCLDMWGVGC IFVEMIQGVA AFPGMKDIQD QLERIFLVLG TPNEDTWPGV 370 380 390 400 410 420 HSLPHFKPER FTLYSSKNLR QAWNKLSYVN HAEDLASKLL QCSPKNRLSA QAALSHEYFS 430 440 450 460 DLPPRLWELT DMSSIFTVPN VRLQPEAGES MRAFGKNNSY GKSLSNSKH
	Isoform 2 [UniParc]. Checksum: 68210FCBC0D44031		451	50,662
	10 20 30 40 50 60 MHGYFGCNAA AEPGYSAFVG TPQICVTKMS TRNCQGMDSV IKPLDTIPED KKVRVQRTQS 70 80 90 100 110 120 TFDPFEKPAN QVKRVHSENN ACINFKTSST GKESPKVRRH SSPSSPTSPK FGKADSYEKL 130 140 150 160 170 180 EKLGEGSYAT VYKGKSKVNG KLVALKVIRL QEEEGTPFTA IREASLLKGL KHANIVLLHD 190 200 210 220 230 240 IIHTKETLTL VFEYVHTDLC QYMDKHPGGL HPDNVKLFLF QLLRGLSYIH QRYILHRDLK 250 260 270 280 290 300 PQNLLISDTG ELKLADFGLA RAKSVPSHTY SNEVVTLWYR PPDVLLGSTE YSTCLDMWGV 310 320 330 340 350 360 GCIFVEMIQG VAAFPGMKDI QDQLERIFLV LGTPNEDTWP GVHSLPHFKP ERFTLYSSKN 370 380 390 400 410 420 LRQAWNKLSY VNHAEDLASK LLQCSPKNRL SAQAALSHEY FSDLPPRLWE LTDMSSIFTV 430 440 450 PNVRLQPEAG ESMRAFGKNN SYGKSLSNSK H

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and cellular localization of human PFTAIRE1." Yang T., Chen J.-Y. Gene 267:165-172(2001) [PubMed: 11313143] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Cervix carcinoma.
[2]	"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:355-364(1998) [PubMed: 10048485] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[3]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R. Nature 446:153-158(2007) [PubMed: 17344846] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ILE-432 AND ARG-463.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF119833 mRNA. Translation: AAG43234.1. AB020641 mRNA. Translation: BAA74857.2. Different initiation. AC000057 Genomic DNA. Translation: AAS07411.1. AC000059 Genomic DNA. No translation available. AC002065 Genomic DNA. Translation: AAM48566.1. AC002456 Genomic DNA. No translation available. AC002458 Genomic DNA. Translation: AAS07412.1. AC006036 Genomic DNA. Translation: AAF19245.1.
RefSeq	NP_036527.1.
UniGene	Hs.430742
3D structure databases
HSSP	HSSP built from PDB template 1GII based on UniProtKB P24941.
ModBase	Search...
Protein-protein interaction databases
IntAct	O94921.
PTM databases
PhosphoSite	O94921.
Genome annotation databases
Ensembl	ENSG00000058091. Homo sapiens. [Contig view]
GeneID	5218.
KEGG	hsa:5218.
Organism-specific databases
HGNC	HGNC:8883. PFTK1.
HPA	HPA015267.
MIM	610679. gene.
PharmGKB	PA33221.
HUGE	Search...
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	O94921.
HOVERGEN	O94921.
Gene expression databases
ArrayExpress	O94921.
CleanEx	HS_PFTK1.
GermOnline	ENSG00000058091. Homo sapiens.
Family and domain databases
InterPro	IPR000719. Prot_kinase_core. IPR017441. Protein_kinase_ATP_bd_CS. IPR017442. Se/Thr_pkinase-rel. IPR008271. Ser_thr_pkin_AS. IPR002290. Ser_thr_pkinase. [Graphical view]
Pfam	PF00069. Pkinase. 1 hit. [Graphical view]
ProDom	PD000001. Prot_kinase. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00220. S_TKc. 1 hit. [Graphical view]
PROSITE	PS00107. PROTEIN_KINASE_ATP. 1 hit. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	20182.
SOURCE	Search...

Entry information

Entry name

PFTK1_HUMAN

Accession

Primary (citable) accession number: O94921
Secondary accession number(s): A6NK51 , Q75N06, Q75N22, Q8N764, Q9H3D7, Q9UDR0

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2002
Last sequence update:	April 18, 2006
Last modified:	November 25, 2008
This is version 80 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)