Q9Y2H5 (PKHA6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pleckstrin homology domain-containing family A member 6
Short name=PH domain-containing family A member 6

Alternative name(s):
Phosphoinositol 3-phosphate-binding protein 3
Short name=PEPP-3

Gene names

Name:	PLEKHA6
Synonyms:	KIAA0969, PEPP3

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	1048 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Highly expressed in heart, kidney and throughout the brain.
Sequence similarities	Contains 1 PH domain.
Sequence caution	The sequence BAA76813.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1048

1048

Pleckstrin homology domain-containing family A member 6

PRO_0000053884

Regions

Domain

59 – 158

100

PH

Compositional bias

162 – 386

225

Pro-rich

Amino acid modifications

Modified residue

472

1

Phosphoserine Ref.5

Modified residue

476

1

Phosphoserine By similarity

Modified residue

492

1

Phosphotyrosine By similarity

Modified residue

744

1

Phosphothreonine By similarity

Modified residue

777

1

Phosphoserine By similarity

Modified residue

801

1

Phosphoserine By similarity

Modified residue

848

1

Phosphoserine Ref.4

Modified residue

854

1

Phosphoserine Ref.4

Modified residue

867

1

Phosphoserine Ref.5

Natural variations

Natural variant

43

1

V → I. Ref.1 Ref.3
Corresponds to variant rs10900571 [ dbSNP | Ensembl ].

VAR_037145

Natural variant

837

1

R → K. Ref.1 Ref.3
Corresponds to variant rs10900562 [ dbSNP | Ensembl ].

VAR_037146

Secondary structure

1

.

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1048

Helix Strand Turn

Details...

Beta strand

62 – 69

8

Beta strand

73 – 75

3

Beta strand

77 – 85

9

Beta strand

88 – 94

7

Beta strand

102 – 105

4

Beta strand

110 – 113

4

Turn

116 – 119

4

Beta strand

123 – 129

7

Beta strand

131 – 133

3

Beta strand

135 – 139

5

Helix

143 – 155

13

Sequences

	Sequence		Length	Mass (Da)
	Q9Y2H5 [UniParc]. Last modified November 13, 2007. Version 4. Checksum: 230F7CB49C9DDF32	FASTA	1,048	117,128
	10 20 30 40 50 60 MSNKTGGKRP ATTNSDIPNH NMVSEVPPER PSVRATRTAR KAVAFGKRSH SMKRNPNAPV 70 80 90 100 110 120 TKAGWLFKQA SSGVKQWNKR WFVLVDRCLF YYKDEKEESI LGSIPLLSFR VAAVQPSDNI 130 140 150 160 170 180 SRKHTFKAEH AGVRTYFFSA ESPEEQEAWI QAMGEAARVQ IPPAQKSVPQ AVRHSHEKPD 190 200 210 220 230 240 SENVPPSKHH QQPPHNSLPK PEPEAKTRGE GDGRGCEKAE RRPERPEVKK EPPVKANGLP 250 260 270 280 290 300 AGPEPASEPG SPYPEGPRVP GGGEQPAQPN GWQYHSPSRP GSTAFPSQDG ETGGHRRSFP 310 320 330 340 350 360 PRTNPDKIAQ RKSSMNQLQQ WVNLRRGVPP PEDLRSPSRF YPVSRRVPEY YGPYSSQYPD 370 380 390 400 410 420 DYQYYPPGVR PESICSMPAY DRISPPWALE DKRHAFRNGG GPAYQLREWK EPASYGRQDA 430 440 450 460 470 480 TVWIPSPSRQ PVYYDELDAA SSSLRRLSLQ PRSHSVPRSP SQGSYSRARI YSPVRSPSAR 490 500 510 520 530 540 FERLPPRSED IYADPAAYVM RRSISSPKVP PYPEVFRDSL HTYKLNEQDT DKLLGKLCEQ 550 560 570 580 590 600 NKVVREQDRL VQQLRAEKES LESALMGTHQ ELEMFGSQPA YPEKLRHKKD SLQNQLINIR 610 620 630 640 650 660 VELSQATTAL TNSTIEYEHL ESEVSALHDD LWEQLNLDTQ NEVLNRQIQK EIWRIQDVME 670 680 690 700 710 720 GLRKNNPSRG TDTAKHRGGL GPSATYSSNS PASPLSSASL TSPLSPFSLV SGSQGSPTKP 730 740 750 760 770 780 GSNEPKANYE QSKKDPHQTL PLDTPRDISL VPTRQEVEAE KQAALNKVGV VPPRTKSPTD 790 800 810 820 830 840 DEVTPSAVVR RNASGLTNGL SSQERPKSAV FPGEGKVKMS VEEQIDRMRR HQSGSMREKR 850 860 870 880 890 900 RSLQLPASPA PDPSPRPAYK VVRRHRSIHE VDISNLEAAL RAEEPGGHAY ETPREEIARL 910 920 930 940 950 960 RKMELEPQHY DVDINKELST PDKVLIPERY IDLEPDTPLS PEELKEKQKK VERIKTLIAK 970 980 990 1000 1010 1020 SSMQNVVPIG EGDSVDVPQD SESQLQEQEK RIEISCALAT EASRRGRMLS VQCATPSPPT 1030 1040 SPASPAPPAN PLSSESPRGA DSSYTMRV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XIII. 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. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ILE-43 AND LYS-837. Tissue: Brain.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ILE-43 AND LYS-837.
[4]	"A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-848 AND SER-854, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[5]	"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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-472 AND SER-867, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"Solution structure of the PH domain of PEPP-3 from human." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 57-160.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AB023186 mRNA. Translation: BAA76813.2. Different initiation.
AL592114 Genomic DNA. Translation: CAH71228.1.
BC152475 mRNA. Translation: AAI52476.1.

IPI

IPI00007248.

RefSeq

NP_055750.2. NM_014935.4.

UniGene

Hs.253146.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2D9Y	NMR	-	A	57-160	[»]
2YRY	NMR	-	A	46-160	[»]

ProteinModelPortal

Q9Y2H5.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9Y2H5. 2 interactions.

STRING

9606.ENSP00000272203.

PTM databases

PhosphoSite

Q9Y2H5.

Polymorphism databases

DMDM

160334379.

Proteomic databases

PaxDb

Q9Y2H5.

PRIDE

Q9Y2H5.

Protocols and materials databases

DNASU

22874.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000272203; ENSP00000272203; ENSG00000143850.

GeneID

22874.

KEGG

hsa:22874.

UCSC

uc001hau.3. human.

Organism-specific databases

CTD

22874.

GeneCards

GC01M204187.

H-InvDB

HIX0001495.

HGNC

HGNC:17053. PLEKHA6.

HPA

HPA028152.

MIM

607771. gene.

neXtProt

NX_Q9Y2H5.

PharmGKB

PA134955964.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG71050.

HOGENOM

HOG000115554.

HOVERGEN

HBG099912.

OrthoDB

EOG4Q58NN.

PhylomeDB

Q9Y2H5.

Gene expression databases

ArrayExpress

Q9Y2H5.

Bgee

Q9Y2H5.

CleanEx

HS_PLEKHA6.

Genevestigator

Q9Y2H5.

GermOnline

ENSG00000143850. Homo sapiens.

Family and domain databases

Gene3D

2.30.29.30. 1 hit.

InterPro

IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
[Graphical view]

Pfam

PF00169. PH. 1 hit.
[Graphical view]

SMART

SM00233. PH. 1 hit.
[Graphical view]

PROSITE

PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

PLEKHA6. human.

EvolutionaryTrace

Q9Y2H5.

GenomeRNAi

22874.

NextBio

43425.

SOURCE

Search...

Entry information

Entry name

PKHA6_HUMAN

Accession

Primary (citable) accession number: Q9Y2H5
Secondary accession number(s): A7MD51, Q5VTI6

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2004
Last sequence update:	November 13, 2007
Last modified:	May 1, 2013
This is version 95 of the entry and version 4 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.