Reviewed, UniProtKB/Swiss-Prot Q96Q40 (PFTK2_HUMAN)

Names and origin

Protein names

Recommended name:
    Serine/threonine-protein kinase PFTAIRE-2
    EC=2.7.11.22
Alternative name(s):
    Serine/threonine-protein kinase ALS2CR7
    Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 7 protein

Gene names

Name:	PFTK2
Synonyms:	ALS2CR7

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

General annotation (Comments)

Catalytic activity	ATP + a protein = ADP + a phosphoprotein.
Cofactor	Magnesium By similarity.
Sequence similarities	Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Contains 1 protein kinase domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Magnesium Metal-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
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW cyclin-dependent protein kinase activity Inferred from electronic annotation. Source: EC magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CDK2	P24941	1	EBI-1051975,EBI-375096

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96Q40-1)

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: Q96Q40-2)

The sequence of this isoform differs from the canonical sequence as follows:
     131-151: Missing.
     286-371: EWFPLPTPRS...PEMCDLLASY → GGSKKQHGWHTDIGQHRTAAMQPCSRNVSF

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96Q40-3)

The sequence of this isoform differs from the canonical sequence as follows:
     350-384: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 384	384	Serine/threonine-protein kinase PFTAIRE-2		PRO_0000085619
Regions
	Domain	52 – 336	285	Protein kinase
	Nucleotide binding	58 – 66	9	ATP By similarity
Sites
	Active site	173	1	Proton acceptor By similarity
	Binding site	81	1	ATP By similarity
Natural variations
	Alternative sequence	131 – 151	21	Missing in isoform 2.		VSP_023743
	Alternative sequence	286 – 371	86	EWFPL…LLASY → GGSKKQHGWHTDIGQHRTAA MQPCSRNVSF in isoform 2.		VSP_023744
	Alternative sequence	350 – 384	35	Missing in isoform 3.		VSP_023745
	Natural variant	13	1	R → G Ref.6		VAR_042016
	Natural variant	42	1	K → E in a renal clear cell carcinoma sample; somatic mutation. Ref.6		VAR_042017
	Natural variant	76	1	Q → R Ref.6		VAR_042018
	Natural variant	204	1	T → I Ref.6		VAR_042019
	Natural variant	225	1	E → D in a breast infiltrating ductal carcinoma sample; somatic mutation. Ref.6		VAR_042020

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 6CAAD08E6E0E43EB	FASTA	384	43,574
	10 20 30 40 50 60 MTSFHPRGLQ AARAQKFKSK RPRSNSDCFQ EEDLRQGFQW RKSLPFGAAS SYLNLEKLGE 70 80 90 100 110 120 GSYATVYKGI SRINGQLVAL KVISMNAEEG VPFTAIREAS LLKGLKHANI VLLHDIIHTK 130 140 150 160 170 180 ETLTFVFEYM HTDLAQYMSQ HPGGLHPHNV RLFMFQLLRG LAYIHHQHVL HRDLKPQNLL 190 200 210 220 230 240 ISHLGELKLA DFGLARAKSI PSQTYSSEVV TLWYRPPDAL LGATEYSSEL DIWGAGCIFI 250 260 270 280 290 300 EMFQGQPLFP GVSNILEQLE KIWEVLGVPT EDTWPGVSKL PNYNPEWFPL PTPRSLHVVW 310 320 330 340 350 360 NRLGRVPEAE DLASQMLKGF PRDRVSAQEA LVHDYFSALP SQLYQLPDEE SLFTVSGVRL 370 380 KPEMCDLLAS YQKGHHPAQF SKCW
	Isoform 2. Checksum: F65111C56CD0A8CC	FASTA	307	34,673
	10 20 30 40 50 60 MTSFHPRGLQ AARAQKFKSK RPRSNSDCFQ EEDLRQGFQW RKSLPFGAAS SYLNLEKLGE 70 80 90 100 110 120 GSYATVYKGI SRINGQLVAL KVISMNAEEG VPFTAIREAS LLKGLKHANI VLLHDIIHTK 130 140 150 160 170 180 ETLTFVFEYM LFMFQLLRGL AYIHHQHVLH RDLKPQNLLI SHLGELKLAD FGLARAKSIP 190 200 210 220 230 240 SQTYSSEVVT LWYRPPDALL GATEYSSELD IWGAGCIFIE MFQGQPLFPG VSNILEQLEK 250 260 270 280 290 300 IWEVLGVPTE DTWPGVSKLP NYNPGGSKKQ HGWHTDIGQH RTAAMQPCSR NVSFQKGHHP AQFSKCW
	Isoform 3. Checksum: F884A99447AA6B6E	FASTA	349	39,597
	10 20 30 40 50 60 MTSFHPRGLQ AARAQKFKSK RPRSNSDCFQ EEDLRQGFQW RKSLPFGAAS SYLNLEKLGE 70 80 90 100 110 120 GSYATVYKGI SRINGQLVAL KVISMNAEEG VPFTAIREAS LLKGLKHANI VLLHDIIHTK 130 140 150 160 170 180 ETLTFVFEYM HTDLAQYMSQ HPGGLHPHNV RLFMFQLLRG LAYIHHQHVL HRDLKPQNLL 190 200 210 220 230 240 ISHLGELKLA DFGLARAKSI PSQTYSSEVV TLWYRPPDAL LGATEYSSEL DIWGAGCIFI 250 260 270 280 290 300 EMFQGQPLFP GVSNILEQLE KIWEVLGVPT EDTWPGVSKL PNYNPEWFPL PTPRSLHVVW 310 320 330 340 NRLGRVPEAE DLASQMLKGF PRDRVSAQEA LVHDYFSALP SQLYQLPDE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2." Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. , Rouleau G.A., Hayden M.R., Ikeda J.-E. Nat. Genet. 29:166-173(2001) [PubMed: 11586298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Testis.
[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] (ISOFORM 2). Tissue: Glial tumor.
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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 3). Tissue: Brain.
[5]	"The protein kinase complement of the human genome." Manning G., Whyte D.B., Martinez R., Hunter T., Sudarsanam S. Science 298:1912-1934(2002) [PubMed: 12471243] [Abstract] Cited for: NOMENCLATURE.
[6]	"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] GLY-13; GLU-42; ARG-76; ILE-204 AND ASP-225.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB053308 mRNA. Translation: BAB69017.1. AK131512 mRNA. Translation: BAD18656.1. Different initiation. AC007242 Genomic DNA. Translation: AAX93182.1. AC007358 Genomic DNA. Translation: AAX88914.1. BC038807 mRNA. Translation: AAH38807.1.
IPI	IPI00044678. IPI00442058. IPI00829793.
RefSeq	NP_631897.1.
UniGene	Hs.348711
3D structure databases
HSSP	HSSP built from PDB template 1DI8 based on UniProtKB P24941.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96Q40. 1 interaction.
PTM databases
PhosphoSite	Q96Q40.
Proteomic databases
PRIDE	Q96Q40.
Genome annotation databases
Ensembl	ENSG00000138395. Homo sapiens. [Contig view]
GeneID	65061.
KEGG	hsa:65061.
Organism-specific databases
GeneCards	GC02P202380.
H-InvDB	HIX0002745.
HGNC	HGNC:14434. PFTK2.
HPA	HPA015786.
PharmGKB	PA24747.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q96Q40.
HOVERGEN	Q96Q40.
OMA	Q96Q40. YQLPDEE.
Enzyme and pathway databases
BRENDA	2.7.11.22. 247.
Gene expression databases
ArrayExpress	Q96Q40.
Bgee	Q96Q40.
CleanEx	HS_PFTK2.
Family and domain databases
InterPro	IPR000719. Prot_kinase_core. IPR017441. Protein_kinase_ATP_BS. 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
DrugBank	DB00171. Adenosine triphosphate.
NextBio	67244.

Entry information

Entry name

PFTK2_HUMAN

Accession

Primary (citable) accession number: Q96Q40
Secondary accession number(s): Q4ZG86 , Q53TV1, Q6ZMR9, Q8IUP1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 19, 2002
Last sequence update:	December 1, 2001
Last modified:	June 16, 2009
This is version 65 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)