Reviewed,
UniProtKB/Swiss-Prot Q9UNW1 (MINP1_HUMAN)
Last modified
June 16, 2009.
Version 70.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Multiple inositol polyphosphate phosphatase 1 EC=3.1.3.62 Alternative name(s): Inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase Ins(1,3,4,5)P(4) 3-phosphatase | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 487 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Acts as a phosphoinositide 5- and phosphoinositide 6-phosphatase and regulates cellular levels of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6) By similarity. May play a role in bone development (endochondral ossification). |
| Catalytic activity | Myo-inositol hexakisphosphate + H2O = myo-inositol pentakisphosphate (mixed isomers) + phosphate. |
| Subcellular location | Endoplasmic reticulum lumen By similarity. |
| Tissue specificity | Widely expressed with highest levels in kidney, liver and placenta. Ref.1 |
| Involvement in disease | Defects in MINPP1 may be involved in follicular thyroid tumors development. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Domain | Signal |
| Molecular function | Hydrolase |
| PTM | Glycoprotein |
| Gene Ontology (GO) | |
| Biological process | bone mineralization Ref.1 Non-traceable author statement. Source: UniProtKB polyphosphate metabolic process Ref.2Traceable author statement. Source: ProtInc |
| Cellular component | endoplasmic reticulum Ref.2 Traceable author statement. Source: ProtInc endoplasmic reticulum lumenInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | acid phosphatase activity Inferred from electronic annotation. Source: InterPro bisphosphoglycerate 3-phosphatase activityInferred from direct assay. Source: UniProtKB multiple inositol-polyphosphate phosphatase activityInferred from electronic annotation. Source: EC phosphohistidine phosphatase activity Ref.2Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9UNW1-1) 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: Q9UNW1-2) The sequence of this isoform differs from the canonical sequence as follows: 279-312: DLIQVAFFTCSFDLAIKGVKSPWCDVFDIDDAKV → GLSQFLLQSSSSLVMQRLFFHCFLSWATSKTRNP 313-487: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9UNW1-3) The sequence of this isoform differs from the canonical sequence as follows: 279-284: DLIQVA → GIRIFK 285-487: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 30 | 30 | By similarity | ||||||
| Chain | 31 – 487 | 457 | Multiple inositol polyphosphate phosphatase 1 | PRO_0000019582 | |||||
Regions | |||||||||
| Motif | 484 – 487 | 4 | Prevents secretion from ER Potential | ||||||
Sites | |||||||||
| Active site | 89 | 1 | Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 242 | 1 | N-linked (GlcNAc...) Ref.8 | ||||||
| Glycosylation | 481 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 279 – 312 | 34 | DLIQV…DDAKV → GLSQFLLQSSSSLVMQRLFF HCFLSWATSKTRNP in isoform 2. | VSP_014552 | |||||
| Alternative sequence | 279 – 284 | 6 | DLIQVA → GIRIFK in isoform 3. | VSP_014553 | |||||
| Alternative sequence | 285 – 487 | 203 | Missing in isoform 3. | VSP_014554 | |||||
| Alternative sequence | 313 – 487 | 175 | Missing in isoform 2. | VSP_014555 | |||||
| Natural variant | 41 | 1 | S → L in a follicular thyroid carcinoma; somatic mutation. Ref.10 | VAR_022836 | |||||
| Natural variant | 270 | 1 | Q → R in a follicular thyroid adenoma. Ref.10 | VAR_022837 | |||||
Experimental info | |||||||||
| Mutagenesis | 370 | 1 | H → A: Greatly diminishes phosphatase activity. Ref.1 | ||||||
| Sequence conflict | 81 | 1 | V → A in CAB43673. Ref.3 | ||||||
| Sequence conflict | 111 | 1 | A → P in AAD02437. Ref.2 | ||||||
| Sequence conflict | 132 | 1 | A → R in AAD02437. Ref.2 | ||||||
| Sequence conflict | 156 – 157 | 2 | QL → HV in AAD02437. Ref.2 | ||||||
| Sequence conflict | 344 | 1 | F → S in CAB43673. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The human and rat forms of multiple inositol polyphosphate phosphatase: functional homology with a histidine acid phosphatase up-regulated during endochondral ossification." Caffrey J.J., Hidaka K., Matsuda M., Hirata M., Shears S.B. FEBS Lett. 442:99-104(1999) [PubMed: 9923613] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, MUTAGENESIS OF HIS-370. |
| [2] | "Multiple inositol polyphosphate phosphatase: evolution as a distinct group within the histidine phosphatase family and chromosomal localization of the human and mouse genes to chromosomes 10q23 and 19." Chi H., Tiller G.E., Dasouki M.J., Romano P.R., Wang J., O'keefe R.J., Puzas J.E., Rosier R.N., Reynolds P.R. Genomics 56:324-336(1999) [PubMed: 10087200] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [4] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [5] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [6] | "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: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [8] | "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed: 16335952] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-242, MASS SPECTROMETRY. Tissue: Plasma. |
| [9] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [10] | "Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas." Gimm O., Chi H., Dahia P.L., Perren A., Hinze R., Komminoth P., Dralle H., Reynolds P.R., Eng C. J. Clin. Endocrinol. Metab. 86:1801-1805(2001) [PubMed: 11297621] [Abstract] Cited for: VARIANT FOLLICULAR THYROID CARCINOMA LEU-41, VARIANT FOLLICULAR THYROID ADENOMA ARG-270. |
Cross-references
Sequence databases | |
|---|---|
| AF084943 mRNA. Translation: AAD09751.1. AF084944 mRNA. Translation: AAD09752.1. AF046914 mRNA. Translation: AAD02437.1. AL050356 mRNA. Translation: CAB43673.1. AY358938 mRNA. Translation: AAQ89297.1. AB209819 mRNA. Translation: BAD93056.1. Different initiation. AL355334, AL138767 Genomic DNA. Translation: CAH73423.1. AL138767, AL355334 Genomic DNA. Translation: CAI16030.1. AL355334, AL138767 Genomic DNA. Translation: CAH73422.1. AL138767, AL355334 Genomic DNA. Translation: CAI16029.1. BC032504 mRNA. Translation: AAH32504.1. | |
| IPI | IPI00028553. IPI00293748. IPI00607763. |
| RefSeq | NP_004888.2. |
| UniGene | Hs.121260 |
3D structure databases | |
| ModBase | Search... |
Proteomic databases | |
| PeptideAtlas | Q9UNW1. |
| PRIDE | Q9UNW1. |
Genome annotation databases | |
| Ensembl | ENSG00000107789. Homo sapiens. [Contig view] |
| GeneID | 9562. |
| KEGG | hsa:9562. |
Organism-specific databases | |
| GeneCards | GC10P089254. |
| HGNC | HGNC:7102. MINPP1. |
| MIM | 605391. gene. |
| PharmGKB | PA30820. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q9UNW1. |
| HOVERGEN | Q9UNW1. |
| OMA | Q9UNW1. QKQRSQP. |
Enzyme and pathway databases | |
| BRENDA | 3.1.3.62. 247. |
Gene expression databases | |
| ArrayExpress | Q9UNW1. |
| Bgee | Q9UNW1. |
| CleanEx | HS_MINPP1. |
| GermOnline | ENSG00000107789. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000886. ER_targeting_sequence. IPR000560. Histidine_acid_Pase. IPR016274. Histidine_acid_Pase_euk. [Graphical view] |
| Pfam | PF00328. Acid_phosphat_A. 1 hit. [Graphical view] |
| PIRSF | PIRSF000894. Acid_phosphatase. 1 hit. |
| PROSITE | PS00014. ER_TARGET. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 35863. |
| SOURCE | Search... |
Entry information
| Entry name | MINP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UNW1 Secondary accession number(s): O95172 Q9UGA3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |

Clusters with


