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Q9NP85

- PODO_HUMAN

UniProt

Q9NP85 - PODO_HUMAN

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Protein
Podocin
Gene
NPHS2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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 1 : Cell membrane; Peripheral membrane protein Reviewed prediction 1 Publication
Isoform 2 : Endoplasmic reticulum 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 102102Cytoplasmic Reviewed prediction
Add
BLAST
Intramembranei103 – 12321 Reviewed prediction
Add
BLAST
Topological domaini124 – 383260Cytoplasmic Reviewed prediction
Add
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 383383Podocin
PRO_0000094035Add
BLAST

Amino acid modifications

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

Post-translational modificationi

Isoform 2 is glycosylated.1 Publication

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.1 Publication

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the band 7/mec-2 family.

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.
VSP_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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 114 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

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