Q9NP85 (PODO_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Podocin

Gene names

Name:

NPHS2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	383 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cell membrane; Peripheral membrane protein Potential.
Tissue specificity	Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.
Involvement in disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]: A renal disorder characterized clinically by childhood onset of proteinuria, 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

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
PTM	Lipoprotein Palmitate
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	actin cytoskeleton reorganization Inferred from direct assay PubMed 17675666. Source: UniProtKB excretion Traceable author statement Ref.1. Source: ProtInc metanephric glomerular visceral epithelial cell development Inferred from expression pattern PubMed 11786407. Source: UniProtKB
Cellular_component	cell-cell junction Inferred from direct assay PubMed 17675666. Source: UniProtKB integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc intrinsic to internal side of plasma membrane Inferred from direct assay PubMed 11786407. Source: UniProtKB membrane raft Inferred from direct assay PubMed 17675666. Source: UniProtKB protein complex Inferred from direct assay PubMed 17675666. Source: UniProtKB slit diaphragm Inferred from electronic annotation. Source: Compara
Complete GO annotation...

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)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 383	383	Podocin		PRO_0000094035
Regions
	Topological domain	1 – 102	102	Cytoplasmic Potential
	Intramembrane	103 – 123	21	Potential
	Topological domain	124 – 383	260	Cytoplasmic Potential
Amino acid modifications
	Lipidation	101	1	S-palmitoyl cysteine By similarity
Natural variations
	Alternative sequence	179 – 246	68	Missing in isoform 2.		VSP_000499
	Natural variant	20	1	P → L in NPHS2. Ref.1		VAR_010231
	Natural variant	92	1	G → C in NPHS2. Ref.1		VAR_010232
	Natural variant	138	1	R → Q in NPHS2. Ref.1		VAR_010233
	Natural variant	160	1	D → G in NPHS2. Ref.1		VAR_010234
	Natural variant	180	1	V → M in NPHS2. Ref.1		VAR_010235
	Natural variant	291	1	R → W in NPHS2. Ref.1		VAR_010236

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: BBB57783C840F752	FASTA	383	42,201
	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
	Isoform 2 [UniParc]. Checksum: 3DEBA37C01C87D84	FASTA	315	34,421
	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 TLEIPFHEVA 190 200 210 220 230 240 LDSVTCIWGI KVERIEIKDV RLPAGLQHSL AVEAEAQRQA KVRMIAAEAE KAASESLRMA 250 260 270 280 290 300 AEILSGTPAA VQLRYLHTLQ SLSTEKPSTV VLPLPFDLLN CLSSPSNRTQ GSLPFPSPSK 310 PVEPLNPKKK DSPML

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00014594. IPI00219955.
RefSeq	NP_055440.1. NM_014625.2.
UniGene	Hs.412710.
3D structure databases
ProteinModelPortal	Q9NP85.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000356587.
PTM databases
PhosphoSite	Q9NP85.
Polymorphism databases
DMDM	12230467.
Proteomic databases
PaxDb	Q9NP85.
PRIDE	Q9NP85.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367615; ENSP00000356587; ENSG00000116218. ENST00000367616; ENSP00000356588; ENSG00000116218.
GeneID	7827.
KEGG	hsa:7827.
UCSC	uc001gmq.4. human. uc009wxi.3. human.
Organism-specific databases
CTD	7827.
GeneCards	GC01M179519.
HGNC	HGNC:13394. NPHS2.
HPA	CAB037267.
MIM	600995. phenotype. 604766. gene.
neXtProt	NX_Q9NP85.
Orphanet	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.
PharmGKB	PA31710.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0330.
HOGENOM	HOG000217040.
HOVERGEN	HBG004815.
InParanoid	Q9NP85.
OMA	HEIVTKD.
OrthoDB	EOG4JDH71.
PhylomeDB	Q9NP85.
Enzyme and pathway databases
Reactome	REACT_111155. Cell-Cell communication.
Gene expression databases
Bgee	Q9NP85.
CleanEx	HS_NPHS2.
Genevestigator	Q9NP85.
GermOnline	ENSG00000116218. Homo sapiens.
Family and domain databases
InterPro	IPR001107. Band_7. IPR018080. Band_7/stomatin-like_CS. IPR001972. Stomatin. [Graphical view]
PANTHER	PTHR10264. PTHR10264. 1 hit.
Pfam	PF01145. Band_7. 1 hit. [Graphical view]
PRINTS	PR00721. STOMATIN.
SMART	SM00244. PHB. 1 hit. [Graphical view]
PROSITE	PS01270. BAND_7. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	7827.
NextBio	30224.
SOURCE	Search...

Entry information

Entry name

PODO_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 101 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.