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Q9NRR6

- INP5E_HUMAN

UniProt

Q9NRR6 - INP5E_HUMAN

Protein

72 kDa inositol polyphosphate 5-phosphatase

Gene

INPP5E

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 2 (04 Nov 2008)
      Previous versions | rss
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    Functioni

    Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates.1 Publication

    Catalytic activityi

    1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.

    Enzyme regulationi

    Active in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTAB.

    GO - Molecular functioni

    1. inositol-polyphosphate 5-phosphatase activity Source: UniProtKB
    2. phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity Source: UniProtKB-EC

    GO - Biological processi

    1. inositol phosphate dephosphorylation Source: Ensembl
    2. phosphatidylinositol biosynthetic process Source: Reactome
    3. phosphatidylinositol dephosphorylation Source: Ensembl
    4. phospholipid metabolic process Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Lipid metabolism

    Enzyme and pathway databases

    BioCyciMetaCyc:HS09270-MONOMER.
    ReactomeiREACT_120836. Synthesis of PIPs at the Golgi membrane.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    72 kDa inositol polyphosphate 5-phosphatase (EC:3.1.3.36)
    Alternative name(s):
    Phosphatidylinositol 4,5-bisphosphate 5-phosphatase
    Phosphatidylinositol polyphosphate 5-phosphatase type IV
    Gene namesi
    Name:INPP5E
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:21474. INPP5E.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium axoneme 2 Publications. Golgi apparatusGolgi stack membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
    Note: Peripheral membrane protein associated with Golgi stacks.By similarity

    GO - Cellular componenti

    1. axoneme Source: UniProtKB
    2. cytoskeleton Source: UniProtKB-KW
    3. cytosol Source: Reactome
    4. Golgi cisterna membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Joubert syndrome 1 (JBTS1) [MIM:213300]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti378 – 3781R → C in JBTS1; slightly reduced activity. 1 Publication
    VAR_063012
    Natural varianti435 – 4351R → Q in JBTS1; severe reduction of activity. 1 Publication
    VAR_063013
    Natural varianti512 – 5121R → W in JBTS1; associated with W-515; severe reduction of activity. 1 Publication
    VAR_063014
    Natural varianti515 – 5151R → W in JBTS1; associated with W-512; severe reduction of activity. 1 Publication
    VAR_063015
    Natural varianti563 – 5631R → H in JBTS1; slightly reduced activity. 1 Publication
    VAR_063016
    Natural varianti580 – 5801K → E in JBTS1; severe reduction of activity. 1 Publication
    VAR_063017
    Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM:610156]: An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Joubert syndrome, Mental retardation, Obesity

    Organism-specific databases

    MIMi213300. phenotype.
    610156. phenotype.
    Orphaneti475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    75858. MORM syndrome.
    PharmGKBiPA164741785.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 64464472 kDa inositol polyphosphate 5-phosphatasePRO_0000209747Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei99 – 991Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ9NRR6.
    PRIDEiQ9NRR6.

    PTM databases

    PhosphoSiteiQ9NRR6.

    Expressioni

    Tissue specificityi

    Detected in brain, heart, pancreas, testis and spleen.1 Publication

    Gene expression databases

    ArrayExpressiQ9NRR6.
    BgeeiQ9NRR6.
    CleanExiHS_INPP5E.
    GenevestigatoriQ9NRR6.

    Interactioni

    Protein-protein interaction databases

    BioGridi121159. 1 interaction.
    STRINGi9606.ENSP00000360777.

    Structurei

    Secondary structure

    1
    644
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi287 – 2937
    Beta strandi298 – 30710
    Helixi319 – 3224
    Beta strandi332 – 3409
    Helixi345 – 35612
    Beta strandi360 – 3689
    Beta strandi371 – 3788
    Helixi379 – 3846
    Beta strandi389 – 39911
    Beta strandi402 – 41312
    Beta strandi416 – 4249
    Helixi432 – 44514
    Beta strandi450 – 4523
    Helixi457 – 4593
    Helixi465 – 4673
    Beta strandi468 – 47710
    Beta strandi482 – 4843
    Helixi486 – 4938
    Helixi501 – 5055
    Helixi509 – 5157
    Beta strandi518 – 5203
    Beta strandi540 – 5434
    Beta strandi556 – 5649
    Beta strandi567 – 5759
    Beta strandi581 – 5844
    Beta strandi587 – 5948
    Helixi611 – 62313

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2XSWX-ray1.90A/B275-623[»]
    ProteinModelPortaliQ9NRR6.
    SMRiQ9NRR6. Positions 282-623.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati10 – 1341
    Repeati15 – 1842
    Repeati28 – 3143
    Repeati39 – 4244
    Repeati55 – 5845
    Repeati69 – 7136
    Repeati72 – 7437
    Repeati75 – 7848
    Repeati121 – 12449
    Repeati169 – 172410
    Repeati183 – 185311
    Repeati190 – 193412
    Repeati236 – 239413

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni10 – 24223313 X 4 AA repeats of P-X-X-PAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi92 – 976Poly-Arg

    Sequence similaritiesi

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG5411.
    HOGENOMiHOG000231541.
    HOVERGENiHBG052132.
    InParanoidiQ9NRR6.
    KOiK01099.
    OMAiAVKYSSC.
    OrthoDBiEOG70KGPF.
    PhylomeDBiQ9NRR6.
    TreeFamiTF323475.

    Family and domain databases

    Gene3Di3.60.10.10. 1 hit.
    InterProiIPR005135. Endo/exonuclease/phosphatase.
    IPR000300. IPPc.
    [Graphical view]
    PfamiPF03372. Exo_endo_phos. 1 hit.
    [Graphical view]
    SMARTiSM00128. IPPc. 1 hit.
    [Graphical view]
    SUPFAMiSSF56219. SSF56219. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NRR6-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MPSKAENLRP SEPAPQPPEG RTLQGQLPGA PPAQRAGSPP DAPGSESPAL    50
    ACSTPATPSG EDPPARAAPI APRPPARPRL ERALSLDDKG WRRRRFRGSQ 100
    EDLEARNGTS PSRGSVQSEG PGAPAHSCSP PCLSTSLQEI PKSRGVLSSE 150
    RGSPSSGGNP LSGVASSSPN LPHRDAAVAG SSPRLPSLLP PRPPPALSLD 200
    IASDSLRTAN KVDSDLADYK LRAQPLLVRA HSSLGPGRPR SPLACDDCSL 250
    RSAKSSFSLL APIRSKDVRS RSYLEGSLLA SGALLGADEL ARYFPDRNVA 300
    LFVATWNMQG QKELPPSLDE FLLPAEADYA QDLYVIGVQE GCSDRREWET 350
    RLQETLGPHY VLLSSAAHGV LYMSLFIRRD LIWFCSEVEC STVTTRIVSQ 400
    IKTKGALGIS FTFFGTSFLF ITSHFTSGDG KVAERLLDYT RTVQALVLPR 450
    NVPDTNPYRS SAADVTTRFD EVFWFGDFNF RLSGGRTVVD ALLCQGLVVD 500
    VPALLQHDQL IREMRKGSIF KGFQEPDIHF LPSYKFDIGK DTYDSTSKQR 550
    TPSYTDRVLY RSRHKGDICP VSYSSCPGIK TSDHRPVYGL FRVKVRPGRD 600
    NIPLAAGKFD RELYLLGIKR RISKEIQRQQ ALQSQNSSTI CSVS 644
    Length:644
    Mass (Da):70,205
    Last modified:November 4, 2008 - v2
    Checksum:i5B6CFB75CD0ADC9A
    GO
    Isoform 2 (identifier: Q9NRR6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         346-379: Missing.

    Show »
    Length:610
    Mass (Da):66,193
    Checksum:i093CCDE3EBB9DD9A
    GO

    Sequence cautioni

    The sequence AAB03215.1 differs from that shown. Reason: Several sequencing problems.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti345 – 3451R → T in AAF81404. (PubMed:10764818)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti201 – 2011I → M.
    Corresponds to variant rs36064831 [ dbSNP | Ensembl ].
    VAR_047078
    Natural varianti378 – 3781R → C in JBTS1; slightly reduced activity. 1 Publication
    VAR_063012
    Natural varianti435 – 4351R → Q in JBTS1; severe reduction of activity. 1 Publication
    VAR_063013
    Natural varianti512 – 5121R → W in JBTS1; associated with W-515; severe reduction of activity. 1 Publication
    VAR_063014
    Natural varianti515 – 5151R → W in JBTS1; associated with W-512; severe reduction of activity. 1 Publication
    VAR_063015
    Natural varianti563 – 5631R → H in JBTS1; slightly reduced activity. 1 Publication
    VAR_063016
    Natural varianti580 – 5801K → E in JBTS1; severe reduction of activity. 1 Publication
    VAR_063017

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei346 – 37934Missing in isoform 2. 1 PublicationVSP_009799Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF187891 mRNA. Translation: AAF81404.1.
    AL592301 Genomic DNA. Translation: CAI13947.1.
    CH471090 Genomic DNA. Translation: EAW88234.1.
    BC028032 mRNA. Translation: AAH28032.1.
    U45974 mRNA. Translation: AAB03215.1. Sequence problems.
    CCDSiCCDS7000.1. [Q9NRR6-1]
    RefSeqiNP_063945.2. NM_019892.4. [Q9NRR6-1]
    XP_006717250.1. XM_006717187.1. [Q9NRR6-2]
    UniGeneiHs.120998.

    Genome annotation databases

    EnsembliENST00000371712; ENSP00000360777; ENSG00000148384. [Q9NRR6-1]
    GeneIDi56623.
    KEGGihsa:56623.
    UCSCiuc004cho.3. human. [Q9NRR6-1]

    Polymorphism databases

    DMDMi212276439.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF187891 mRNA. Translation: AAF81404.1 .
    AL592301 Genomic DNA. Translation: CAI13947.1 .
    CH471090 Genomic DNA. Translation: EAW88234.1 .
    BC028032 mRNA. Translation: AAH28032.1 .
    U45974 mRNA. Translation: AAB03215.1 . Sequence problems.
    CCDSi CCDS7000.1. [Q9NRR6-1 ]
    RefSeqi NP_063945.2. NM_019892.4. [Q9NRR6-1 ]
    XP_006717250.1. XM_006717187.1. [Q9NRR6-2 ]
    UniGenei Hs.120998.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2XSW X-ray 1.90 A/B 275-623 [» ]
    ProteinModelPortali Q9NRR6.
    SMRi Q9NRR6. Positions 282-623.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121159. 1 interaction.
    STRINGi 9606.ENSP00000360777.

    PTM databases

    PhosphoSitei Q9NRR6.

    Polymorphism databases

    DMDMi 212276439.

    Proteomic databases

    PaxDbi Q9NRR6.
    PRIDEi Q9NRR6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371712 ; ENSP00000360777 ; ENSG00000148384 . [Q9NRR6-1 ]
    GeneIDi 56623.
    KEGGi hsa:56623.
    UCSCi uc004cho.3. human. [Q9NRR6-1 ]

    Organism-specific databases

    CTDi 56623.
    GeneCardsi GC09M139323.
    GeneReviewsi INPP5E.
    H-InvDB HIX0125641.
    HGNCi HGNC:21474. INPP5E.
    MIMi 213300. phenotype.
    610156. phenotype.
    613037. gene.
    neXtProti NX_Q9NRR6.
    Orphaneti 475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    75858. MORM syndrome.
    PharmGKBi PA164741785.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5411.
    HOGENOMi HOG000231541.
    HOVERGENi HBG052132.
    InParanoidi Q9NRR6.
    KOi K01099.
    OMAi AVKYSSC.
    OrthoDBi EOG70KGPF.
    PhylomeDBi Q9NRR6.
    TreeFami TF323475.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS09270-MONOMER.
    Reactomei REACT_120836. Synthesis of PIPs at the Golgi membrane.

    Miscellaneous databases

    GenomeRNAii 56623.
    NextBioi 62067.
    PROi Q9NRR6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NRR6.
    Bgeei Q9NRR6.
    CleanExi HS_INPP5E.
    Genevestigatori Q9NRR6.

    Family and domain databases

    Gene3Di 3.60.10.10. 1 hit.
    InterProi IPR005135. Endo/exonuclease/phosphatase.
    IPR000300. IPPc.
    [Graphical view ]
    Pfami PF03372. Exo_endo_phos. 1 hit.
    [Graphical view ]
    SMARTi SM00128. IPPc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56219. SSF56219. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase."
      Kisseleva M.V., Wilson M.P., Majerus P.W.
      J. Biol. Chem. 275:20110-20116(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, TISSUE SPECIFICITY.
      Tissue: Fetal brain.
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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).
      Tissue: Brain.
    5. Nussbaum R.L.
      Submitted (JAN-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 469-644 (ISOFORM 1).
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-99, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    7. "INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse."
      Jacoby M., Cox J.J., Gayral S., Hampshire D.J., Ayub M., Blockmans M., Pernot E., Kisseleva M.V., Compere P., Schiffmann S.N., Gergely F., Riley J.H., Perez-Morga D., Woods C.G., Schurmans S.
      Nat. Genet. 41:1027-1031(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MORMS.
    8. Cited for: SUBCELLULAR LOCATION, VARIANTS JBTS1 CYS-378; GLN-435; TRP-512; TRP-515; HIS-563 AND GLU-580, CHARACTERIZATION OF VARIANTS JBTS1 CYS-378; GLN-435; TRP-512; TRP-515; HIS-563 AND GLU-580.
    9. "Crystal structure of human INPP5E."
      Structural genomics consortium (SGC)
      Submitted (NOV-2010) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 275-623.

    Entry informationi

    Entry nameiINP5E_HUMAN
    AccessioniPrimary (citable) accession number: Q9NRR6
    Secondary accession number(s): Q15734, Q6PIV5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2004
    Last sequence update: November 4, 2008
    Last modified: October 1, 2014
    This is version 108 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3