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Q9NP85 (PODO_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Podocin
Gene names
Name:NPHS2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length383 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with nephrin/NPHS1 and KIRREL. Interacts directly with CD2AP. Interacts with DDN By similarity. Ref.6

Subcellular location

Isoform 1: Cell membrane; Peripheral membrane protein Potential Ref.7.

Isoform 2: Endoplasmic reticulum Ref.7.

Tissue specificity

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

Post-translational modification

Isoform 2 is glycosylated. Ref.7

Involvement in disease

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. Ref.1

Sequence similarities

Belongs to the band 7/mec-2 family.

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

IQGAP1P469404EBI-6897706,EBI-297509

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NP85-1)

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: Q9NP85-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 383383Podocin
PRO_0000094035

Regions

Topological domain1 – 102102Cytoplasmic Potential
Intramembrane103 – 12321 Potential
Topological domain124 – 383260Cytoplasmic Potential

Amino acid modifications

Lipidation1011S-palmitoyl cysteine By similarity

Natural variations

Alternative sequence179 – 24668Missing in isoform 2.
VSP_000499
Natural variant201P → L in NPHS2. Ref.1
Corresponds to variant rs74315344 [ dbSNP | Ensembl ].
VAR_010231
Natural variant921G → C in NPHS2. Ref.1
VAR_010232
Natural variant1381R → Q in NPHS2. Ref.1
VAR_010233
Natural variant1601D → G in NPHS2. Ref.1
VAR_010234
Natural variant1801V → M in NPHS2. Ref.1
VAR_010235
Natural variant2911R → W in NPHS2. Ref.1
Corresponds to variant rs74315348 [ dbSNP | Ensembl ].
VAR_010236

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: BBB57783C840F752

FASTA38342,201
        10         20         30         40         50         60 
MERRARSSSR ESRGRGGRTP HKENKRAKAE RSGGGRGRQE AGPEPSGSGR AGTPGEPRAP 

        70         80         90        100        110        120 
AATVVDVDEV RGSGEEGTEV VALLESERPE EGTKSSGLGA CEWLLVLISL LFIIMTFPFS 

       130        140        150        160        170        180 
IWFCVKVVQE YERVIIFRLG HLLPGRAKGP GLFFFLPCLD TYHKVDLRLQ TLEIPFHEIV 

       190        200        210        220        230        240 
TKDMFIMEID AICYYRMENA SLLLSSLAHV SKAVQFLVQT TMKRLLAHRS LTEILLERKS 

       250        260        270        280        290        300 
IAQDAKVALD SVTCIWGIKV ERIEIKDVRL PAGLQHSLAV EAEAQRQAKV RMIAAEAEKA 

       310        320        330        340        350        360 
ASESLRMAAE ILSGTPAAVQ LRYLHTLQSL STEKPSTVVL PLPFDLLNCL SSPSNRTQGS 

       370        380 
LPFPSPSKPV EPLNPKKKDS PML 

« Hide

Isoform 2 (Pod-short) [UniParc].

Checksum: 3DEBA37C01C87D84
Show »

FASTA31534,421

References

« Hide 'large scale' references
[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]Erratum
Boute N., Gribouval O., Roselli S., Benessy F., Lee H., Fuchshuber A., Dahan K., Gubler M.-C., Niaudet P., Antignac C.
Nat. Genet. 25:125-125(2000) [PubMed] [Europe PMC] [Abstract]
[3]"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. expand/collapse author list , 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].
[4]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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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.
[6]"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.
[7]"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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ279246 expand/collapse EMBL AC list , 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.
CCDSCCDS1331.1. [Q9NP85-1]
RefSeqNP_055440.1. NM_014625.2. [Q9NP85-1]
XP_005245541.1. XM_005245484.2. [Q9NP85-2]
UniGeneHs.412710.

3D structure databases

ProteinModelPortalQ9NP85.
SMRQ9NP85. Positions 164-326.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113590. 6 interactions.
IntActQ9NP85. 1 interaction.
STRING9606.ENSP00000356587.

PTM databases

PhosphoSiteQ9NP85.

Polymorphism databases

DMDM12230467.

Proteomic databases

PaxDbQ9NP85.
PRIDEQ9NP85.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367615; ENSP00000356587; ENSG00000116218. [Q9NP85-1]
ENST00000367616; ENSP00000356588; ENSG00000116218. [Q9NP85-2]
GeneID7827.
KEGGhsa:7827.
UCSCuc001gmq.4. human. [Q9NP85-1]
uc009wxi.3. human. [Q9NP85-2]

Organism-specific databases

CTD7827.
GeneCardsGC01M179519.
HGNCHGNC:13394. NPHS2.
HPACAB037267.
HPA049486.
MIM600995. phenotype.
604766. gene.
neXtProtNX_Q9NP85.
Orphanet93213. 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.
PharmGKBPA31710.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0330.
HOGENOMHOG000217040.
HOVERGENHBG004815.
InParanoidQ9NP85.
KOK18268.
OMAFIIMTFP.
OrthoDBEOG78D7KJ.
PhylomeDBQ9NP85.
TreeFamTF105750.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.

Gene expression databases

BgeeQ9NP85.
CleanExHS_NPHS2.
GenevestigatorQ9NP85.

Family and domain databases

InterProIPR001107. Band_7.
IPR018080. Band_7/stomatin-like_CS.
IPR028509. Podocin.
IPR001972. Stomatin_fam.
[Graphical view]
PANTHERPTHR10264. PTHR10264. 1 hit.
PTHR10264:SF23. PTHR10264:SF23. 1 hit.
PfamPF01145. Band_7. 1 hit.
[Graphical view]
PRINTSPR00721. STOMATIN.
SMARTSM00244. PHB. 1 hit.
[Graphical view]
PROSITEPS01270. BAND_7. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNPHS2.
GenomeRNAi7827.
NextBio30224.
PROQ9NP85.
SOURCESearch...

Entry information

Entry namePODO_HUMAN
AccessionPrimary (citable) accession number: Q9NP85
Secondary accession number(s): B1AM32, B1AM33, Q8N6Q5
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM