Reviewed, UniProtKB/Swiss-Prot O14986 (PI51B_HUMAN)

Names and origin

Protein names

Recommended name:
    Phosphatidylinositol-4-phosphate 5-kinase type-1 beta
      Short name=PtdIns(4)P-5-kinase 1 beta
      Short name=PIP5K1-beta
    EC=2.7.1.68
Alternative name(s):
    Phosphatidylinositol-4-phosphate 5-kinase type I beta
      Short name=PIP5KIbeta
    Type I phosphatidylinositol-4-phosphate 5-kinase beta
    Protein STM-7

Gene names

Name:	PIP5K1B
Synonyms:	STM7

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	540 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Mediates RAC1-dependent reorganization of actin filaments By similarity. Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate.
Catalytic activity	ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.
Subunit structure	Interacts with RAC1 By similarity.
Subcellular location	Endomembrane system By similarity. Note: Associated with membranes By similarity.
Tissue specificity	Detected in heart, pancreas, brain, kidney, skeletal muscle and lung. Ref.7
Sequence similarities	Contains 1 PIPK domain.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Nucleotide-binding
Molecular function	Kinase Transferase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	phosphatidylinositol metabolic process Inferred from electronic annotation. Source: InterPro phosphorylation Non-traceable author statement. Source: UniProtKB
Cellular component	endomembrane system Inferred from electronic annotation. Source: UniProtKB-SubCell membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	1-phosphatidylinositol-4-phosphate 5-kinase activity Ref.7 Non-traceable author statement. Source: UniProtKB ATP 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
SPOP	O43791	1	EBI-1053734,EBI-743549

Alternative products

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

Isoform 1 (identifier: O14986-1)

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: O14986-2)

Also known as: Isoform 1;

The sequence of this isoform differs from the canonical sequence as follows:
     24-24: T → TQVKNQILSRLPKIPCTFIQAWTNTEMITLLACYYFRSVST
     501-540: SKGLPSSSTFTLEEGTIYLTAEPNTLEVQDDNASVLDVYL → RFKMATSEH

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 540	540	Phosphatidylinositol-4-phosphate 5-kinase type-1 beta		PRO_0000185458
Regions
	Domain	25 – 395	371	PIPK
Amino acid modifications
	Modified residue	405	1	Phosphoserine
	Modified residue	445	1	Phosphoserine
	Modified residue	447	1	Phosphoserine
	Modified residue	448	1	Phosphoserine
Natural variations
	Alternative sequence	24	1	T → TQVKNQILSRLPKIPCTFIQ AWTNTEMITLLACYYFRSVS T in isoform 2.		VSP_016010
	Alternative sequence	501 – 540	40	SKGLP…LDVYL → RFKMATSEH in isoform 2.		VSP_016011
	Natural variant	415	1	A → T: dbSNP rs55897616. Ref.2		VAR_023712
Experimental info
	Sequence conflict	346	1	M → T in AAH30587. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 25, 2005. Version 2. Checksum: 7A683794A39A20B6	FASTA	540	61,036
	10 20 30 40 50 60 MSSAAENGEA APGKQNEEKT YKKTASSAIK GAIQLGIGYT VGNLTSKPER DVLMQDFYVV 70 80 90 100 110 120 ESVFLPSEGS NLTPAHHYPD FRFKTYAPLA FRYFRELFGI KPDDYLYSIC SEPLIELSNP 130 140 150 160 170 180 GASGSLFFVT SDDEFIIKTV QHKEAEFLQK LLPGYYMNLN QNPRTLLPKF YGLYCMQSGG 190 200 210 220 230 240 INIRIVVMNN VLPRSMRMHF TYDLKGSTYK RRASRKEREK SNPTFKDLDF LQDMHEGLYF 250 260 270 280 290 300 DTETYNALMK TLQRDCRVLE SFKIMDYSLL LGIHFLDHSL KEKEEETPQN VPDAKRTGMQ 310 320 330 340 350 360 KVLYSTAMES IQGPGKSGDG IITENPDTMG GIPAKSHRGE KLLLFMGIID ILQSYRLMKK 370 380 390 400 410 420 LEHSWKALVY DGDTVSVHRP SFYADRFLKF MNSRVFKKIQ ALKASPSKKR CNSIAALKAT 430 440 450 460 470 480 SQEIVSSISQ EWKDEKRDLL TEGQSFSSLD EEALGSRHRP DLVPSTPSLF EAASLATTIS 490 500 510 520 530 540 SSSLYVNEHY PHDRPTLYSN SKGLPSSSTF TLEEGTIYLT AEPNTLEVQD DNASVLDVYL
	Isoform 2 (Isoform 1). Checksum: B12247947FAAB6B1	FASTA	549	62,485
	10 20 30 40 50 60 MSSAAENGEA APGKQNEEKT YKKTQVKNQI LSRLPKIPCT FIQAWTNTEM ITLLACYYFR 70 80 90 100 110 120 SVSTASSAIK GAIQLGIGYT VGNLTSKPER DVLMQDFYVV ESVFLPSEGS NLTPAHHYPD 130 140 150 160 170 180 FRFKTYAPLA FRYFRELFGI KPDDYLYSIC SEPLIELSNP GASGSLFFVT SDDEFIIKTV 190 200 210 220 230 240 QHKEAEFLQK LLPGYYMNLN QNPRTLLPKF YGLYCMQSGG INIRIVVMNN VLPRSMRMHF 250 260 270 280 290 300 TYDLKGSTYK RRASRKEREK SNPTFKDLDF LQDMHEGLYF DTETYNALMK TLQRDCRVLE 310 320 330 340 350 360 SFKIMDYSLL LGIHFLDHSL KEKEEETPQN VPDAKRTGMQ KVLYSTAMES IQGPGKSGDG 370 380 390 400 410 420 IITENPDTMG GIPAKSHRGE KLLLFMGIID ILQSYRLMKK LEHSWKALVY DGDTVSVHRP 430 440 450 460 470 480 SFYADRFLKF MNSRVFKKIQ ALKASPSKKR CNSIAALKAT SQEIVSSISQ EWKDEKRDLL 490 500 510 520 530 540 TEGQSFSSLD EEALGSRHRP DLVPSTPSLF EAASLATTIS SSSLYVNEHY PHDRPTLYSN RFKMATSEH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase." Carvajal J.J., Pook M.A., dos Santos M., Doudney K., Hillermann R., Minogue S., Williamson R., Hsuan J.J., Chamberlain S. Nat. Genet. 14:157-162(1996) [PubMed: 8841185] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity." Pook M.A., Carvajal J.J., Doudney K., Hillermann R., Chamberlain S. Genomics 42:170-172(1997) [PubMed: 9177790] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-415, ALTERNATIVE SPLICING.
[3]	"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 1). Tissue: Kidney.
[4]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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].
[6]	"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 2). Tissue: Testis.
[7]	"Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family." Loijens J.C., Anderson R.A. J. Biol. Chem. 271:32937-32943(1996) [PubMed: 8955136] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 340-540 (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Fetal brain.
[8]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-405; SER-445; SER-447 AND SER-448, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X92493 mRNA. Translation: CAA63224.1. U52387 , U52376, U52377, U52378, U52379, U52380, U52381, U52382, U52383, U52384, U52385, U52386 Genomic DNA. Translation: AAC51327.1. AK292734 mRNA. Translation: BAF85423.1. AL162730, AL354794, AL356219 Genomic DNA. Translation: CAH71831.1. AL354794, AL356219 Genomic DNA. Translation: CAI12622.1. AL354794, AL356219 Genomic DNA. Translation: CAI12623.1. AL354794, AL356219 Genomic DNA. Translation: CAI12624.1. AL354794, AL162730, AL356219 Genomic DNA. Translation: CAI12625.1. AL356219, AL354794 Genomic DNA. Translation: CAI14092.1. AL356219, AL354794 Genomic DNA. Translation: CAI14093.1. AL356219, AL354794 Genomic DNA. Translation: CAI14094.1. AL356219, AL162730, AL354794 Genomic DNA. Translation: CAI14095.1. CH471089 Genomic DNA. Translation: EAW62465.1. BC030587 mRNA. Translation: AAH30587.1. U78580 mRNA. Translation: AAC50915.1.
IPI	IPI00304025. IPI00465236.
RefSeq	NP_003549.1.
UniGene	Hs.534371
3D structure databases
SMR	O14986. Positions 24-396.
ModBase	Search...
Protein-protein interaction databases
IntAct	O14986. 2 interactions.
STRING	O14986.
PTM databases
PhosphoSite	O14986.
Proteomic databases
PRIDE	O14986.
Genome annotation databases
Ensembl	ENST00000265382; ENSP00000265382; ENSG00000107242; Homo sapiens. [Genome view] ENST00000377290; ENSP00000366505; ENSG00000107242; Homo sapiens. [Genome view]
GeneID	8395.
KEGG	hsa:8395.
UCSC	uc004agu.1. human.
Organism-specific databases
CTD	8395.
GeneCards	GC09P070510.
H-InvDB	HIX0022058.
HGNC	HGNC:8995. PIP5K1B.
HPA	HPA009687.
MIM	602745. gene.
PharmGKB	PA33328.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13295.
HOVERGEN	O14986.
Enzyme and pathway databases
BioCyc	MetaCyc:ENSG00000107242-MONOMER.
BRENDA	2.7.1.68. 247.
Gene expression databases
ArrayExpress	O14986.
Bgee	O14986.
Genevestigator	O14986.
Family and domain databases
InterPro	IPR002498. PInositol-4-P-5-kinase_core. IPR016034. PInositol-4P-5-kinase_core_sub. [Graphical view]
PANTHER	PTHR23086. PIP5K. 1 hit.
Pfam	PF01504. PIP5K. 1 hit. [Graphical view]
SMART	SM00330. PIPKc. 1 hit. [Graphical view]
PROSITE	PS51455. PIPK. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	31420.
SOURCE	Search...

Entry information

Entry name

PI51B_HUMAN

Accession

Primary (citable) accession number: O14986
Secondary accession number(s): A8K9L9 , P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 25, 2005
Last sequence update:	October 25, 2005
Last modified:	February 9, 2010
This is version 68 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.