O14830 (PPE2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Serine/threonine-protein phosphatase with EF-hands 2
Short name=PPEF-2
EC=3.1.3.16

Gene names

Name:

PPEF2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	753 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission.
Catalytic activity	A phosphoprotein + H2O = a protein + phosphate.
Cofactor	Binds 1 iron ion per subunit By similarity. Binds 1 manganese ion per subunit By similarity.
Enzyme regulation	Activated by calcium By similarity.
Subcellular location	Cytoplasm Probable. Cell projection › cilium › photoreceptor outer segment. Photoreceptor inner segment. Note: Localized to photoreceptors, PPEF-2(L) is at least 2 fold more abundant in rod inner segments than in the outer segments.
Tissue specificity	Retinal specific.
Sequence similarities	Belongs to the PPP phosphatase family. Contains 3 EF-hand domains. Contains 1 IQ domain.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Cell projection Cilium Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	Calcium Iron Manganese Metal-binding
Molecular function	Hydrolase Protein phosphatase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	detection of stimulus involved in sensory perception Inferred from electronic annotation. Source: InterPro negative regulation of MAPK cascade Inferred from direct assay PubMed 20674765. Source: BHF-UCL negative regulation of peptidyl-threonine phosphorylation Inferred from direct assay PubMed 20674765. Source: BHF-UCL protein dephosphorylation Traceable author statement Ref.1. Source: ProtInc regulation of JUN kinase activity Inferred by curator PubMed 20674765. Source: BHF-UCL visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell photoreceptor inner segment Inferred from electronic annotation. Source: UniProtKB-SubCell photoreceptor outer segment Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	Hsp70 protein binding Inferred from direct assay PubMed 20674765. Source: BHF-UCL Hsp90 protein binding Inferred from direct assay PubMed 20674765. Source: BHF-UCL calcium ion binding Inferred from electronic annotation. Source: InterPro iron ion binding Inferred from electronic annotation. Source: InterPro manganese ion binding Inferred from electronic annotation. Source: InterPro protein serine/threonine phosphatase activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Calm3	P62204	2	EBI-2931306,EBI-397460	From a different organism.

Alternative products

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

Isoform PPEF-2(L) (identifier: O14830-1)

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 PPEF-2(S) (identifier: O14830-2)

The sequence of this isoform differs from the canonical sequence as follows:
     588-598: ITLSDWAAAVE → ASSQLCYYQQK
     599-753: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 753	753	Serine/threonine-protein phosphatase with EF-hands 2		PRO_0000058901
Regions
	Domain	21 – 46	26	IQ
	Domain	568 – 603	36	EF-hand 1
	Domain	652 – 687	36	EF-hand 2
	Domain	692 – 727	36	EF-hand 3
	Calcium binding	665 – 676	12	1 Potential
	Calcium binding	705 – 716	12	2 Potential
	Region	128 – 540	413	Catalytic
Sites
	Active site	241	1	Proton donor By similarity
	Metal binding	179	1	Iron By similarity
	Metal binding	181	1	Iron By similarity
	Metal binding	208	1	Iron By similarity
	Metal binding	208	1	Manganese By similarity
	Metal binding	240	1	Manganese By similarity
	Metal binding	292	1	Manganese By similarity
	Metal binding	488	1	Manganese By similarity
Natural variations
	Alternative sequence	588 – 598	11	ITLSDWAAAVE → ASSQLCYYQQK in isoform PPEF-2(S).		VSP_005103
	Alternative sequence	599 – 753	155	Missing in isoform PPEF-2(S).		VSP_005104
	Natural variant	120	1	S → R.		VAR_010230
	Natural variant	394	1	V → L. Corresponds to variant rs34097437 [ dbSNP | Ensembl ].		VAR_055121
	Natural variant	412	1	E → K. Corresponds to variant rs35599561 [ dbSNP | Ensembl ].		VAR_055122
	Natural variant	481	1	M → L. Ref.1 Corresponds to variant rs6858658 [ dbSNP | Ensembl ].		VAR_061759
	Natural variant	553	1	R → K. Corresponds to variant rs34155925 [ dbSNP | Ensembl ].		VAR_055123
	Natural variant	575	1	S → C. Corresponds to variant rs17000961 [ dbSNP | Ensembl ].		VAR_055124
Experimental info
	Sequence conflict	118	1	R → S in AAB82796. Ref.1
	Sequence conflict	118	1	R → S in AAB82797. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform PPEF-2(L) [UniParc]. Last modified May 5, 2009. Version 2. Checksum: 28ED6E79C5B8906C	FASTA	753	86,518
	10 20 30 40 50 60 MGSGTSTQHH FAFQNAERAF KAAALIQRWY RRYVARLEMR RRCTWSIFQS IEYAGQQDQV 70 80 90 100 110 120 KLHDFFSYLM DHFIPSSHND RDFLTRIFTE DRFAQDSEMK KCSDYESIEV PDSYTGPRLS 130 140 150 160 170 180 FPLLPDHATA LVEAFRLKQQ LHARYVLNLL YETKKHLVQL PNINRVSTCY SEEITVCGDL 190 200 210 220 230 240 HGQLDDLIFI FYKNGLPSPE RSYVFNGDFV DRGKDSVEIL MILFAFMLVY PKEFHLNRGN 250 260 270 280 290 300 HEDHMVNLRY GFTKEVMNKY KVHGKEILRT LQDVFCWLPL ATLIDEKVLI LHGGVSDITD 310 320 330 340 350 360 LELLDKIERS KIVSTMRCKT RQKSEKQMEE KRRANQKSSA QGPIPWFLPE SRSLPSSPLR 370 380 390 400 410 420 LGSYKAQKTS RSSSIPCSGS LDGRELSRQV RSSVELELER CRQQAGLLVT GEKEEPSRSA 430 440 450 460 470 480 SEADSEAGEL RKPTQEEWRQ VVDILWSDPM AQEGCKANTI RGGGCYFGPD VTQQLLQKYN 490 500 510 520 530 540 MQFLIRSHEC KPEGYEFCHN RKVLTIFSAS NYYEVGSNRG AYVKLGPALT PHIVQYQANK 550 560 570 580 590 600 VTHTLTMRQR ISRVEESALR ALREKLFAHS SDLLSEFKKH DADKVGLITL SDWAAAVESV 610 620 630 640 650 660 LHLGLPWRML RPQLVNSSAD NMLEYKSWLK NLAKEQLSRE NIQSSLLETL YRNRSNLETI 670 680 690 700 710 720 FRIIDSDHSG FISLDEFRQT WKLFSSHMNI DITDDCICDL ARSIDFNKDG HIDINEFLEA 730 740 750 FRLVEKSCPE GDASECPQAT NAKDSGCSSP GAH
	Isoform PPEF-2(S) [UniParc]. Checksum: 6A27214098070B2D	FASTA	598	69,015
	10 20 30 40 50 60 MGSGTSTQHH FAFQNAERAF KAAALIQRWY RRYVARLEMR RRCTWSIFQS IEYAGQQDQV 70 80 90 100 110 120 KLHDFFSYLM DHFIPSSHND RDFLTRIFTE DRFAQDSEMK KCSDYESIEV PDSYTGPRLS 130 140 150 160 170 180 FPLLPDHATA LVEAFRLKQQ LHARYVLNLL YETKKHLVQL PNINRVSTCY SEEITVCGDL 190 200 210 220 230 240 HGQLDDLIFI FYKNGLPSPE RSYVFNGDFV DRGKDSVEIL MILFAFMLVY PKEFHLNRGN 250 260 270 280 290 300 HEDHMVNLRY GFTKEVMNKY KVHGKEILRT LQDVFCWLPL ATLIDEKVLI LHGGVSDITD 310 320 330 340 350 360 LELLDKIERS KIVSTMRCKT RQKSEKQMEE KRRANQKSSA QGPIPWFLPE SRSLPSSPLR 370 380 390 400 410 420 LGSYKAQKTS RSSSIPCSGS LDGRELSRQV RSSVELELER CRQQAGLLVT GEKEEPSRSA 430 440 450 460 470 480 SEADSEAGEL RKPTQEEWRQ VVDILWSDPM AQEGCKANTI RGGGCYFGPD VTQQLLQKYN 490 500 510 520 530 540 MQFLIRSHEC KPEGYEFCHN RKVLTIFSAS NYYEVGSNRG AYVKLGPALT PHIVQYQANK 550 560 570 580 590 VTHTLTMRQR ISRVEESALR ALREKLFAHS SDLLSEFKKH DADKVGLASS QLCYYQQK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C." Sherman P.M., Sun H., Macke J.P., Williams J., Smallwood P.M., Nathans J. Proc. Natl. Acad. Sci. U.S.A. 94:11639-11644(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PPEF-2(S) AND PPEF-2(L)), VARIANT LEU-481. Tissue: Retina.
[2]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF023456 mRNA. Translation: AAB82796.1. AF023457 mRNA. Translation: AAB82797.1. AC110615 Genomic DNA. No translation available.
IPI	IPI00395633. IPI00784130.
RefSeq	NP_006230.2. NM_006239.2.
UniGene	Hs.290873.
3D structure databases
ProteinModelPortal	O14830.
ModBase	Search...
Protein-protein interaction databases
IntAct	O14830. 2 interactions.
STRING	9606.ENSP00000286719.
PTM databases
PhosphoSite	O14830.
Proteomic databases
PaxDb	O14830.
PRIDE	O14830.
Protocols and materials databases
DNASU	5470.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000286719; ENSP00000286719; ENSG00000156194.
GeneID	5470.
KEGG	hsa:5470.
UCSC	uc003hix.3. human.
Organism-specific databases
CTD	5470.
GeneCards	GC04M076781.
H-InvDB	HIX0200662.
HGNC	HGNC:9244. PPEF2.
HPA	HPA023545.
MIM	602256. gene.
neXtProt	NX_O14830.
PharmGKB	PA33565.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0639.
HOGENOM	HOG000006820.
HOVERGEN	HBG008238.
InParanoid	O14830.
KO	K01090.
OMA	NMLEYKS.
OrthoDB	EOG4255SB.
Gene expression databases
ArrayExpress	O14830.
Bgee	O14830.
CleanEx	HS_PPEF2.
Genevestigator	O14830.
GermOnline	ENSG00000156194. Homo sapiens.
Family and domain databases
Gene3D	1.10.238.10. 2 hits.
InterPro	IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom. IPR000048. IQ_motif_EF-hand-BS. IPR004843. Metallo_PEstase_dom. IPR013235. PPP_dom. IPR012008. Ser/Thr-Pase_EF-hand_contain. IPR006186. Ser/Thr-sp_prot-phosphatase. [Graphical view]
Pfam	PF13499. EF_hand_5. 1 hit. PF00149. Metallophos. 1 hit. PF08321. PPP5. 1 hit. [Graphical view]
PIRSF	PIRSF000912. PPEF. 1 hit.
PRINTS	PR00114. STPHPHTASE.
SMART	SM00054. EFh. 3 hits. SM00015. IQ. 1 hit. SM00156. PP2Ac. 1 hit. [Graphical view]
PROSITE	PS00018. EF_HAND_1. 2 hits. PS50222. EF_HAND_2. 3 hits. PS50096. IQ. False negative. PS00125. SER_THR_PHOSPHATASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5470.
NextBio	21178.
SOURCE	Search...

Entry information

Entry name

PPE2_HUMAN

Accession

Primary (citable) accession number: O14830
Secondary accession number(s): O14831

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	May 5, 2009
Last modified:	May 1, 2013
This is version 139 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.