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Q9NP85

- PODO_HUMAN

UniProt

Q9NP85 - PODO_HUMAN

Protein

Podocin

Gene

NPHS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. actin cytoskeleton reorganization Source: UniProtKB
    2. excretion Source: ProtInc
    3. metanephric glomerular visceral epithelial cell development Source: UniProtKB

    Enzyme and pathway databases

    ReactomeiREACT_23832. Nephrin interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Podocin
    Gene namesi
    Name:NPHS2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:13394. NPHS2.

    Subcellular locationi

    Isoform 2 : Endoplasmic reticulum 1 Publication

    GO - Cellular componenti

    1. cell-cell junction Source: UniProtKB
    2. endoplasmic reticulum Source: UniProtKB-SubCell
    3. extracellular vesicular exosome Source: UniProt
    4. integral component of plasma membrane Source: ProtInc
    5. intrinsic component of the cytoplasmic side of the plasma membrane Source: UniProtKB
    6. membrane raft Source: UniProtKB
    7. plasma membrane Source: Reactome
    8. protein complex Source: UniProtKB
    9. slit diaphragm Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Nephrotic syndrome 2 (NPHS2) [MIM:600995]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201P → L in NPHS2. 1 Publication
    Corresponds to variant rs74315344 [ dbSNP | Ensembl ].
    VAR_010231
    Natural varianti92 – 921G → C in NPHS2. 1 Publication
    VAR_010232
    Natural varianti138 – 1381R → Q in NPHS2. 1 Publication
    VAR_010233
    Natural varianti160 – 1601D → G in NPHS2. 1 Publication
    VAR_010234
    Natural varianti180 – 1801V → M in NPHS2. 1 Publication
    VAR_010235
    Natural varianti291 – 2911R → W in NPHS2. 1 Publication
    Corresponds to variant rs74315348 [ dbSNP | Ensembl ].
    VAR_010236

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi600995. phenotype.
    Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
    93216. Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes.
    93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
    93221. Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes.
    PharmGKBiPA31710.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 383383PodocinPRO_0000094035Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi101 – 1011S-palmitoyl cysteineBy similarity

    Post-translational modificationi

    Isoform 2 is glycosylated.

    Keywords - PTMi

    Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    PaxDbiQ9NP85.
    PRIDEiQ9NP85.

    PTM databases

    PhosphoSiteiQ9NP85.

    Expressioni

    Tissue specificityi

    Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.

    Gene expression databases

    BgeeiQ9NP85.
    CleanExiHS_NPHS2.
    GenevestigatoriQ9NP85.

    Organism-specific databases

    HPAiCAB037267.
    HPA049486.

    Interactioni

    Subunit structurei

    Interacts with nephrin/NPHS1 and KIRREL. Interacts directly with CD2AP. Interacts with DDN By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    IQGAP1P469404EBI-6897706,EBI-297509

    Protein-protein interaction databases

    BioGridi113590. 6 interactions.
    IntActiQ9NP85. 1 interaction.
    STRINGi9606.ENSP00000356587.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NP85.
    SMRiQ9NP85. Positions 164-326.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 102102CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini124 – 383260CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei103 – 12321Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the band 7/mec-2 family.Curated

    Phylogenomic databases

    eggNOGiCOG0330.
    HOGENOMiHOG000217040.
    HOVERGENiHBG004815.
    InParanoidiQ9NP85.
    KOiK18268.
    OMAiFIIMTFP.
    OrthoDBiEOG78D7KJ.
    PhylomeDBiQ9NP85.
    TreeFamiTF105750.

    Family and domain databases

    InterProiIPR001107. Band_7.
    IPR018080. Band_7/stomatin-like_CS.
    IPR028509. Podocin.
    IPR001972. Stomatin_fam.
    [Graphical view]
    PANTHERiPTHR10264. PTHR10264. 1 hit.
    PTHR10264:SF23. PTHR10264:SF23. 1 hit.
    PfamiPF01145. Band_7. 1 hit.
    [Graphical view]
    PRINTSiPR00721. STOMATIN.
    SMARTiSM00244. PHB. 1 hit.
    [Graphical view]
    PROSITEiPS01270. BAND_7. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NP85-1) [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

    MERRARSSSR ESRGRGGRTP HKENKRAKAE RSGGGRGRQE AGPEPSGSGR    50
    AGTPGEPRAP AATVVDVDEV RGSGEEGTEV VALLESERPE EGTKSSGLGA 100
    CEWLLVLISL LFIIMTFPFS IWFCVKVVQE YERVIIFRLG HLLPGRAKGP 150
    GLFFFLPCLD TYHKVDLRLQ TLEIPFHEIV TKDMFIMEID AICYYRMENA 200
    SLLLSSLAHV SKAVQFLVQT TMKRLLAHRS LTEILLERKS IAQDAKVALD 250
    SVTCIWGIKV ERIEIKDVRL PAGLQHSLAV EAEAQRQAKV RMIAAEAEKA 300
    ASESLRMAAE ILSGTPAAVQ LRYLHTLQSL STEKPSTVVL PLPFDLLNCL 350
    SSPSNRTQGS LPFPSPSKPV EPLNPKKKDS PML 383
    Length:383
    Mass (Da):42,201
    Last modified:October 1, 2000 - v1
    Checksum:iBBB57783C840F752
    GO
    Isoform 2 (identifier: Q9NP85-2) [UniParc]FASTAAdd to Basket

    Also known as: Pod-short

    The sequence of this isoform differs from the canonical sequence as follows:
         179-246: Missing.

    Note: N-glycosylated at Asn-287.

    Show »
    Length:315
    Mass (Da):34,421
    Checksum:i3DEBA37C01C87D84
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201P → L in NPHS2. 1 Publication
    Corresponds to variant rs74315344 [ dbSNP | Ensembl ].
    VAR_010231
    Natural varianti92 – 921G → C in NPHS2. 1 Publication
    VAR_010232
    Natural varianti138 – 1381R → Q in NPHS2. 1 Publication
    VAR_010233
    Natural varianti160 – 1601D → G in NPHS2. 1 Publication
    VAR_010234
    Natural varianti180 – 1801V → M in NPHS2. 1 Publication
    VAR_010235
    Natural varianti291 – 2911R → W in NPHS2. 1 Publication
    Corresponds to variant rs74315348 [ dbSNP | Ensembl ].
    VAR_010236

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei179 – 24668Missing in isoform 2. 1 PublicationVSP_000499Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ279246
    , AJ279247, AJ279248, AJ279249, AJ279250, AJ279251, AJ279252, AJ279253 Genomic DNA. Translation: CAB83272.1.
    AJ279254 mRNA. Translation: CAB83216.1.
    AL160286 Genomic DNA. Translation: CAI15397.1.
    AL160286 Genomic DNA. Translation: CAI15398.1.
    CH471067 Genomic DNA. Translation: EAW91049.1.
    CH471067 Genomic DNA. Translation: EAW91050.1.
    BC029141 mRNA. Translation: AAH29141.1.
    CCDSiCCDS1331.1. [Q9NP85-1]
    RefSeqiNP_055440.1. NM_014625.2. [Q9NP85-1]
    XP_005245541.1. XM_005245484.2. [Q9NP85-2]
    UniGeneiHs.412710.

    Genome annotation databases

    EnsembliENST00000367615; ENSP00000356587; ENSG00000116218. [Q9NP85-1]
    ENST00000367616; ENSP00000356588; ENSG00000116218. [Q9NP85-2]
    GeneIDi7827.
    KEGGihsa:7827.
    UCSCiuc001gmq.4. human. [Q9NP85-1]
    uc009wxi.3. human. [Q9NP85-2]

    Polymorphism databases

    DMDMi12230467.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ279246
    , AJ279247 , AJ279248 , AJ279249 , AJ279250 , AJ279251 , AJ279252 , AJ279253 Genomic DNA. Translation: CAB83272.1 .
    AJ279254 mRNA. Translation: CAB83216.1 .
    AL160286 Genomic DNA. Translation: CAI15397.1 .
    AL160286 Genomic DNA. Translation: CAI15398.1 .
    CH471067 Genomic DNA. Translation: EAW91049.1 .
    CH471067 Genomic DNA. Translation: EAW91050.1 .
    BC029141 mRNA. Translation: AAH29141.1 .
    CCDSi CCDS1331.1. [Q9NP85-1 ]
    RefSeqi NP_055440.1. NM_014625.2. [Q9NP85-1 ]
    XP_005245541.1. XM_005245484.2. [Q9NP85-2 ]
    UniGenei Hs.412710.

    3D structure databases

    ProteinModelPortali Q9NP85.
    SMRi Q9NP85. Positions 164-326.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113590. 6 interactions.
    IntActi Q9NP85. 1 interaction.
    STRINGi 9606.ENSP00000356587.

    PTM databases

    PhosphoSitei Q9NP85.

    Polymorphism databases

    DMDMi 12230467.

    Proteomic databases

    PaxDbi Q9NP85.
    PRIDEi Q9NP85.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367615 ; ENSP00000356587 ; ENSG00000116218 . [Q9NP85-1 ]
    ENST00000367616 ; ENSP00000356588 ; ENSG00000116218 . [Q9NP85-2 ]
    GeneIDi 7827.
    KEGGi hsa:7827.
    UCSCi uc001gmq.4. human. [Q9NP85-1 ]
    uc009wxi.3. human. [Q9NP85-2 ]

    Organism-specific databases

    CTDi 7827.
    GeneCardsi GC01M179519.
    HGNCi HGNC:13394. NPHS2.
    HPAi CAB037267.
    HPA049486.
    MIMi 600995. phenotype.
    604766. gene.
    neXtProti NX_Q9NP85.
    Orphaneti 93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
    93216. Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes.
    93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
    93221. Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes.
    PharmGKBi PA31710.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0330.
    HOGENOMi HOG000217040.
    HOVERGENi HBG004815.
    InParanoidi Q9NP85.
    KOi K18268.
    OMAi FIIMTFP.
    OrthoDBi EOG78D7KJ.
    PhylomeDBi Q9NP85.
    TreeFami TF105750.

    Enzyme and pathway databases

    Reactomei REACT_23832. Nephrin interactions.

    Miscellaneous databases

    GeneWikii NPHS2.
    GenomeRNAii 7827.
    NextBioi 30224.
    PROi Q9NP85.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NP85.
    CleanExi HS_NPHS2.
    Genevestigatori Q9NP85.

    Family and domain databases

    InterProi IPR001107. Band_7.
    IPR018080. Band_7/stomatin-like_CS.
    IPR028509. Podocin.
    IPR001972. Stomatin_fam.
    [Graphical view ]
    PANTHERi PTHR10264. PTHR10264. 1 hit.
    PTHR10264:SF23. PTHR10264:SF23. 1 hit.
    Pfami PF01145. Band_7. 1 hit.
    [Graphical view ]
    PRINTSi PR00721. STOMATIN.
    SMARTi SM00244. PHB. 1 hit.
    [Graphical view ]
    PROSITEi PS01270. BAND_7. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome."
      Boute N., Gribouval O., Roselli S., Benessy F., Lee H., Fuchshuber A., Dahan K., Gubler M.-C., Niaudet P., Antignac C.
      Nat. Genet. 24:349-354(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS NPHS2 LEU-20; CYS-92; GLN-138; GLY-160; MET-180 AND TRP-291.
      Tissue: Kidney.
    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. 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 2).
      Tissue: Colon and Kidney.
    5. "Interaction with podocin facilitates nephrin signaling."
      Huber T.B., Kottgen M., Schilling B., Walz G., Benzing T.
      J. Biol. Chem. 276:41543-41546(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NPHS1.
    6. "Characterization of a short isoform of the kidney protein podocin in human kidney."
      Volker L.A., Schurek E.M., Rinschen M.M., Tax J., Schutte B.A., Lamkemeyer T., Ungrue D., Schermer B., Benzing T., Hohne M.
      BMC Nephrol. 14:102-102(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORM 2), SUBCELLULAR LOCATION (ISOFORM 2), GLYCOSYLATION (ISOFORM 2).
      Tissue: Kidney.

    Entry informationi

    Entry nameiPODO_HUMAN
    AccessioniPrimary (citable) accession number: Q9NP85
    Secondary accession number(s): B1AM32, B1AM33, Q8N6Q5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 115 of the entry and version 1 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3