Q9Y2H2 (SAC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 81.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Phosphatidylinositide phosphatase SAC2 EC=3.1.3.- Alternative name(s): Inositol polyphosphate 5-phosphatase F Sac domain-containing inositol phosphatase 2 Sac domain-containing phosphoinositide 5-phosphatase 2 Short name=hSAC2 | ||||||
| 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 | 1132 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Inositol 5-phosphatase which acts on phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Hydrolyzes phosphatidylinositol 4,5-bisphosphate most effectively. Modulates AKT/GSK3B pathway by decreasing AKT and GSK3B phosphorylation. Ref.1 Ref.9 |
| Tissue specificity | Ubiquitous. Ref.1 |
| Miscellaneous | Inositol polyphosphate 5-phosphatases usually have 2 conserved motifs that are essential for 5-phosphatase activity. However, INPP5F does not contain such motifs, and phosphatase activity seems to exist in the SAC domain, suggesting a new type of phosphoinositide 5-phosphatase. |
| Sequence similarities | Contains 1 SAC domain. |
| Biophysicochemical properties | Kinetic parameters: KM=14.3 µM for PtdIns(4,5)P2 (at pH 6.0) Ref.1 |
| Sequence caution | The sequence BAA76810.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Molecular function | Hydrolase |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cardiac muscle hypertrophy in response to stress Inferred from electronic annotation. Source: Compara phosphatidylinositol catabolic processInferred from electronic annotation. Source: Compara phosphatidylinositol-mediated signalingInferred from electronic annotation. Source: Compara |
| Molecular_function | phosphoric ester hydrolase activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y2H2-1) 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: Q9Y2H2-2) The sequence of this isoform differs from the canonical sequence as follows: 373-375: VII → QQK 376-1132: Missing. | ||||||
| Isoform 3 (identifier: Q9Y2H2-3) The sequence of this isoform differs from the canonical sequence as follows: 206-219: DDRFFWNKYMIQDL → PLTARRAGFALGKK 220-1132: Missing. | ||||||
| Isoform 4 (identifier: Q9Y2H2-4) The sequence of this isoform differs from the canonical sequence as follows: 1-19: MELFQAKDHYILQQGERAL → MCHDVIFMAWLKQQFSECT 20-629: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1132 | 1132 | Phosphatidylinositide phosphatase SAC2 | PRO_0000331621 | |||||
Regions | |||||||||
| Domain | 167 – 518 | 352 | SAC | ||||||
Amino acid modifications | |||||||||
| Modified residue | 829 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 905 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 909 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 942 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 19 | 19 | MELFQ…GERAL → MCHDVIFMAWLKQQFSECT in isoform 4. | VSP_046366 | |||||
| Alternative sequence | 20 – 629 | 610 | Missing in isoform 4. | VSP_046367 | |||||
| Alternative sequence | 206 – 219 | 14 | DDRFF…MIQDL → PLTARRAGFALGKK in isoform 3. | VSP_033266 | |||||
| Alternative sequence | 220 – 1132 | 913 | Missing in isoform 3. | VSP_033267 | |||||
| Alternative sequence | 373 – 375 | 3 | VII → QQK in isoform 2. | VSP_033268 | |||||
| Alternative sequence | 376 – 1132 | 757 | Missing in isoform 2. | VSP_033269 | |||||
| Natural variant | 453 | 1 | I → V. Corresponds to variant rs3736822 [ dbSNP | Ensembl ]. | VAR_042907 | |||||
| Natural variant | 997 | 1 | N → D. Ref.2 Ref.6 Corresponds to variant rs3188055 [ dbSNP | Ensembl ]. | VAR_042908 | |||||
Experimental info | |||||||||
| Mutagenesis | 460 | 1 | D → A: Loss of phosphatase activity. Ref.1 | ||||||
| Sequence conflict | 386 | 1 | I → V in AAI11494. Ref.6 | ||||||
| Sequence conflict | 654 | 1 | Y → N in BAG52363. Ref.3 | ||||||
| Sequence conflict | 1008 | 1 | P → L in BAG52363. Ref.3 | ||||||
| Sequence conflict | 1019 | 1 | S → P in BAG52363. Ref.3 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Identification and characterization of a sac domain-containing phosphoinositide 5-phosphatase." Minagawa T., Ijuin T., Mochizuki Y., Takenawa T. J. Biol. Chem. 276:22011-22015(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, ENZYME ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, MUTAGENESIS OF ASP-460, TISSUE SPECIFICITY. |
| [2] | "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] (ISOFORM 1), VARIANT ASP-997. Tissue: Brain. |
| [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Brain. |
| [4] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed] [Europe PMC] [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. Venter J.C.Submitted (SEP-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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT ASP-997. Tissue: Placenta and Skin. |
| [7] | "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] OF 274-1132 (ISOFORM 1). Tissue: Testis. |
| [8] | Liu B., Liu Y.Q., Wang X.Y., Zhao B., Sheng H., Zhao X.W., Liu S., Xu Y.Y., Ye J., Song L., Gao Y., Zhang C.L., Zhang J., Wei Y.J., Cao H.Q., Zhao Y., Liu L.S., Ding J.F. Hui R.T.Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 956-1132 (ISOFORM 1). Tissue: Aorta. |
| [9] | "Hdac2 regulates the cardiac hypertrophic response by modulating Gsk3 beta activity." Trivedi C.M., Luo Y., Yin Z., Zhang M., Zhu W., Wang T., Floss T., Goettlicher M., Noppinger P.R., Wurst W., Ferrari V.A., Abrams C.S., Gruber P.J., Epstein J.A. Nat. Med. 13:324-331(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [10] | "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [11] | "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell. |
| [12] | "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB023183 mRNA. Translation: BAA76810.2. Different initiation. AK091448 mRNA. Translation: BAG52363.1. AC027672 Genomic DNA. No translation available. AL133461, AL158014 Genomic DNA. Translation: CAH72974.1. AL158014, AL133461 Genomic DNA. Translation: CAI16957.1. CH471066 Genomic DNA. Translation: EAW49379.1. CH471066 Genomic DNA. Translation: EAW49380.1. CH471066 Genomic DNA. Translation: EAW49381.1. BC052367 mRNA. Translation: AAH52367.1. BC067820 mRNA. Translation: AAH67820.1. BC082755 mRNA. Translation: AAH82755.1. BC111493 mRNA. Translation: AAI11494.1. AL137528 mRNA. Translation: CAB70792.1. AF113227 mRNA. Translation: AAG39298.1. AF109361 mRNA. Translation: AAQ13509.1. |
| IPI | IPI00383580. IPI00480159. IPI00890685. IPI00890735. |
| PIR | T46372. |
| RefSeq | NP_001230124.1. NM_001243195.1. NP_055752.1. NM_014937.3. |
| UniGene | Hs.369755. |
3D structure databases | |
| ProteinModelPortal | Q9Y2H2. |
| SMR | Q9Y2H2. Positions 5-520. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000354519. |
PTM databases | |
| PhosphoSite | Q9Y2H2. |
Polymorphism databases | |
| DMDM | 187611527. |
Proteomic databases | |
| PaxDb | Q9Y2H2. |
| PRIDE | Q9Y2H2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000361976; ENSP00000354519; ENSG00000198825. ENST00000369080; ENSP00000358076; ENSG00000198825. ENST00000369083; ENSP00000358079; ENSG00000198825. |
| GeneID | 22876. |
| KEGG | hsa:22876. |
| UCSC | uc001len.4. human. uc001leo.3. human. |
Organism-specific databases | |
| CTD | 22876. |
| GeneCards | GC10P121475. |
| HGNC | HGNC:17054. INPP5F. |
| HPA | HPA042605. |
| MIM | 609389. gene. |
| neXtProt | NX_Q9Y2H2. |
| PharmGKB | PA134927878. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5329. |
| HOVERGEN | HBG095361. |
| InParanoid | Q9Y2H2. |
| OMA | NFLMSKF. |
| OrthoDB | EOG4640B6. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:HS12255-MONOMER. |
Gene expression databases | |
| ArrayExpress | Q9Y2H2. |
| Bgee | Q9Y2H2. |
| CleanEx | HS_INPP5F. |
| Genevestigator | Q9Y2H2. |
Family and domain databases | |
| InterPro | IPR022158. Inositol_phosphatase. IPR002013. Syja_N. [Graphical view] |
| Pfam | PF12456. hSac2. 1 hit. PF02383. Syja_N. 1 hit. [Graphical view] |
| PROSITE | PS50275. SAC. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 22876. |
| NextBio | 43433. |
| SOURCE | Search... |
Entry information
| Entry name | SAC2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y2H2 Secondary accession number(s): B3KRF1 Q9NT51 | ||||||||
| 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 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
