Q9HAU0 (PKHA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 115.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Pleckstrin homology domain-containing family A member 5 Short name=PH domain-containing family A member 5 Alternative name(s): Phosphoinositol 3-phosphate-binding protein 2 Short name=PEPP-2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference 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 | 1116 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subcellular location | |
| Tissue specificity | Highly expressed in heart and kidney. Ref.1 |
| Domain | Specifically interacts with PI3P, PI4P, PI5P, and PI(3,5)P2. Ref.2 |
| Sequence similarities | Contains 1 PH domain. Contains 2 WW domains. |
| Sequence caution | The sequence AAH70174.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence BAA91742.1 differs from that shown. Reason: Frameshift at position 759. The sequence BAB14419.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB21777.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing |
| Domain | Repeat |
| PTM | Phosphoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | 1-phosphatidylinositol binding Non-traceable author statement Ref.1. Source: UniProtKB |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ATN1 | P54259 | 2 | EBI-945934,EBI-945980 | |
| ATXN1 | P54253 | 2 | EBI-945934,EBI-930964 | |
| RBFOX1 | Q9NWB1 | 2 | EBI-945934,EBI-945906 |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9HAU0-1) Also known as: S; 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: Q9HAU0-2) The sequence of this isoform differs from the canonical sequence as follows: 615-615: T → TPEELTLLLIKLRRQQAELSSIREHTLAQLMQLKLEAHSPKNEILSHHLQRNTIYLDHQ | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9HAU0-3) The sequence of this isoform differs from the canonical sequence as follows: 616-650: LSQDEGRGTLYKYRPEEVDIDAKLSRLCEQDKVVH → WGREKVATATGAAEAVASDTHLPRTGSSSPSLLCV 651-1116: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9HAU0-4) The sequence of this isoform differs from the canonical sequence as follows: 800-800: E → EEEEVVPPRPPLPRSYDFTEQPPIIPPLPSDSSSLLCYSRGPVHLPEEKKMYQVQGYPRNGSHC | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q9HAU0-5) The sequence of this isoform differs from the canonical sequence as follows: 785-840: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q9HAU0-6) Also known as: L; The sequence of this isoform differs from the canonical sequence as follows: 275-275: K → KRITFNF 615-615: T → TPEELTLLLIKLRRQQAELSSIREHTLAQLMQLKLEAHSPKNEILSHHLQRNTIYLDHQ 616-616: L → MKENEPIITMVHTMIENSALRPQLYQQFLRQKSKISLYCL 800-800: E → EEEEVVPPRPPLPRSYDFTEQPPIIPPLPSDSSSLLCYSRGPVHLPEEKKMYQVQGYPRNGSHC | ||||||
| Note: Specifically expresssed in brain. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1116 | 1116 | Pleckstrin homology domain-containing family A member 5 | PRO_0000053883 | ||||||||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||||||||
| Domain | 10 – 43 | 34 | WW 1 | |||||||||||||||||||||||||||||
| Domain | 56 – 89 | 34 | WW 2 | |||||||||||||||||||||||||||||
| Domain | 169 – 268 | 100 | PH | |||||||||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||||||||
| Modified residue | 809 | 1 | Phosphoserine Ref.14 | |||||||||||||||||||||||||||||
| Modified residue | 855 | 1 | Phosphoserine Ref.11 Ref.14 | |||||||||||||||||||||||||||||
| Modified residue | 933 | 1 | Phosphoserine Ref.9 Ref.10 Ref.11 Ref.12 | |||||||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||||||
| Alternative sequence | 275 | 1 | K → KRITFNF in isoform 6. | VSP_044678 | ||||||||||||||||||||||||||||
| Alternative sequence | 615 | 1 | T → TPEELTLLLIKLRRQQAELS SIREHTLAQLMQLKLEAHSP KNEILSHHLQRNTIYLDHQ in isoform 2 and isoform 6. | VSP_009775 | ||||||||||||||||||||||||||||
| Alternative sequence | 616 – 650 | 35 | LSQDE…DKVVH → WGREKVATATGAAEAVASDT HLPRTGSSSPSLLCV in isoform 3. | VSP_009776 | ||||||||||||||||||||||||||||
| Alternative sequence | 616 | 1 | L → MKENEPIITMVHTMIENSAL RPQLYQQFLRQKSKISLYCL in isoform 6. | VSP_044679 | ||||||||||||||||||||||||||||
| Alternative sequence | 651 – 1116 | 466 | Missing in isoform 3. | VSP_014595 | ||||||||||||||||||||||||||||
| Alternative sequence | 785 – 840 | 56 | Missing in isoform 5. | VSP_009777 | ||||||||||||||||||||||||||||
| Alternative sequence | 800 | 1 | E → EEEEVVPPRPPLPRSYDFTE QPPIIPPLPSDSSSLLCYSR GPVHLPEEKKMYQVQGYPRN GSHC in isoform 4 and isoform 6. | VSP_009778 | ||||||||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||||||||
| Sequence conflict | 627 | 1 | K → R in BAB14419. Ref.8 | |||||||||||||||||||||||||||||
| Sequence conflict | 736 | 1 | M → T in BAB14419. Ref.8 | |||||||||||||||||||||||||||||
| Sequence conflict | 970 | 1 | P → S in BAA91742. Ref.8 | |||||||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||||||
| Beta strand | 172 – 179 | 8 | ||||||||||||||||||||||||||||||
| Beta strand | 182 – 184 | 3 | ||||||||||||||||||||||||||||||
| Beta strand | 187 – 195 | 9 | ||||||||||||||||||||||||||||||
| Beta strand | 198 – 204 | 7 | ||||||||||||||||||||||||||||||
| Beta strand | 209 – 214 | 6 | ||||||||||||||||||||||||||||||
| Helix | 216 – 218 | 3 | ||||||||||||||||||||||||||||||
| Beta strand | 219 – 223 | 5 | ||||||||||||||||||||||||||||||
| Helix | 226 – 228 | 3 | ||||||||||||||||||||||||||||||
| Beta strand | 234 – 239 | 6 | ||||||||||||||||||||||||||||||
| Beta strand | 241 – 243 | 3 | ||||||||||||||||||||||||||||||
| Beta strand | 246 – 249 | 4 | ||||||||||||||||||||||||||||||
| Helix | 253 – 267 | 15 | ||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities." Dowler S.J., Currie R.A., Campbell D.G., Deak M., Kular G., Downes C.P., Alessi D.R. Biochem. J. 351:19-31(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [2] | "Identification and characterization of splicing variants of PLEKHA5 (Plekha5) during brain development." Yamada K., Nomura N., Yamano A., Yamada Y., Wakamatsu N. Gene 492:270-275(2012) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), SUBCELLULAR LOCATION, PH DOMAIN, ALTERNATIVE SPLICING. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O. DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [4] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION. |
| [5] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Amygdala. |
| [7] | "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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 159-1116 (ISOFORM 3). Tissue: Lung and Placenta. |
| [8] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 625-1116 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 664-1116 (ISOFORM 5). Tissue: Teratocarcinoma. |
| [9] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-933, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-933, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "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-855 AND SER-933, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-933, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [13] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [14] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-809 AND SER-855, MASS SPECTROMETRY. |
| [15] | "Solution structure of the PH domain of pleckstrin homology domain-containing protein family A member 5 from human." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2006) to the PDB data bank Cited for: STRUCTURE BY NMR OF 156-271. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AF302150 mRNA. Translation: AAG22817.1. AB642244 mRNA. Translation: BAL45489.1. AB051473 mRNA. Translation: BAB21777.2. Different initiation. AL834259 mRNA. Translation: CAD38934.1. AC024902 Genomic DNA. No translation available. AC087314 Genomic DNA. No translation available. AC091805 Genomic DNA. No translation available. AC092828 Genomic DNA. No translation available. BC000969 mRNA. Translation: AAH00969.1. BC070174 mRNA. Translation: AAH70174.1. Sequence problems. BC013133 mRNA. Translation: AAH13133.3. BC127092 mRNA. Translation: AAI27093.1. AK001529 mRNA. Translation: BAA91742.1. Frameshift. AK023127 mRNA. Translation: BAB14419.1. Different initiation. | ||||||||||||
| IPI | IPI00029515. IPI00169401. IPI00409581. IPI00409582. IPI00409583. IPI00910030. | ||||||||||||
| RefSeq | NP_001137293.2. NM_001143821.2. NP_001243399.1. NM_001256470.1. NP_001243716.1. NM_001256787.1. NP_061885.2. NM_019012.5. | ||||||||||||
| UniGene | Hs.188614. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q9HAU0. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q9HAU0. 29 interactions. | ||||||||||||
| STRING | 9606.ENSP00000299275. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q9HAU0. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 48474955. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q9HAU0. | ||||||||||||
| PRIDE | Q9HAU0. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000299275; ENSP00000299275; ENSG00000052126. ENST00000309364; ENSP00000311239; ENSG00000052126. ENST00000317589; ENSP00000325155; ENSG00000052126. ENST00000355397; ENSP00000347560; ENSG00000052126. ENST00000359180; ENSP00000352104; ENSG00000052126. ENST00000429027; ENSP00000404296; ENSG00000052126. ENST00000538714; ENSP00000439673; ENSG00000052126. | ||||||||||||
| GeneID | 54477. | ||||||||||||
| KEGG | hsa:54477. | ||||||||||||
| UCSC | uc001rea.3. human. uc001reb.3. human. uc001rec.1. human. uc010sih.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 54477. | ||||||||||||
| GeneCards | GC12P019282. | ||||||||||||
| H-InvDB | HIX0171628. | ||||||||||||
| HGNC | HGNC:30036. PLEKHA5. | ||||||||||||
| HPA | HPA035923. HPA035924. | ||||||||||||
| MIM | 607770. gene. | ||||||||||||
| neXtProt | NX_Q9HAU0. | ||||||||||||
| PharmGKB | PA134949896. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG279863. | ||||||||||||
| HOVERGEN | HBG053615. | ||||||||||||
| OMA | QTMAVKS. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| SignaLink | Q9HAU0. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q9HAU0. | ||||||||||||
| Bgee | Q9HAU0. | ||||||||||||
| CleanEx | HS_PLEKHA5. | ||||||||||||
| Genevestigator | Q9HAU0. | ||||||||||||
| GermOnline | ENSG00000052126. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 2.30.29.30. 1 hit. | ||||||||||||
| InterPro | IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR001202. WW_dom. [Graphical view] | ||||||||||||
| Pfam | PF00169. PH. 1 hit. PF00397. WW. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00233. PH. 1 hit. SM00456. WW. 2 hits. [Graphical view] | ||||||||||||
| SUPFAM | SSF51045. WW_Rsp5_WWP. 1 hit. | ||||||||||||
| PROSITE | PS50003. PH_DOMAIN. 1 hit. PS01159. WW_DOMAIN_1. 1 hit. PS50020. WW_DOMAIN_2. 2 hits. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| EvolutionaryTrace | Q9HAU0. | ||||||||||||
| GenomeRNAi | 54477. | ||||||||||||
| NextBio | 56792. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | PKHA5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HAU0 Secondary accession number(s): A0JP03 Q9NVK8 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
