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P36955 (PEDF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 149. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Pigment epithelium-derived factor

Short name=PEDF
Alternative name(s):
Cell proliferation-inducing gene 35 protein
EPC-1
Serpin F1
Gene names
Name:SERPINF1
Synonyms:PEDF
ORF Names:PIG35
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length418 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity. Ref.13 Ref.14

Subcellular location

Secreted. Melanosome. Note: Enriched in stage I melanosomes. Ref.17

Tissue specificity

Retinal pigment epithelial cells and blood plasma. Ref.11

Developmental stage

Expressed in quiescent cells.

Domain

The N-terminal (AA 44-121) exhibits neurite outgrowth-inducing activity. The C-terminal exposed loop (AA 382-418) is essential for serpin activity.

Post-translational modification

The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity.

N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan. Ref.19 Ref.23

Involvement in disease

Osteogenesis imperfecta 6 (OI6) [MIM:613982]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21

Sequence similarities

Belongs to the serpin family.

Sequence caution

The sequence AAA84914.1 differs from that shown. Reason: Frameshift at position 356.

The sequence AAA93524.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseOsteogenesis imperfecta
   DomainSignal
   PTMGlycoprotein
Phosphoprotein
Pyrrolidone carboxylic acid
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processaging

Inferred from electronic annotation. Source: Ensembl

cell proliferation

Traceable author statement Ref.12. Source: ProtInc

kidney development

Inferred from electronic annotation. Source: Ensembl

multicellular organismal development

Traceable author statement Ref.12. Source: ProtInc

negative regulation of angiogenesis

Inferred from direct assay Ref.23. Source: UniProtKB

negative regulation of endopeptidase activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

negative regulation of epithelial cell proliferation involved in prostate gland development

Inferred from electronic annotation. Source: Ensembl

negative regulation of inflammatory response

Inferred from electronic annotation. Source: Ensembl

positive regulation of neurogenesis

Inferred from direct assay Ref.13. Source: UniProtKB

regulation of proteolysis

Inferred from Biological aspect of Ancestor. Source: RefGenome

response to glucocorticoid

Inferred from electronic annotation. Source: Ensembl

response to retinoic acid

Inferred from electronic annotation. Source: Ensembl

short-term memory

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentextracellular region

Inferred from direct assay Ref.11. Source: UniProtKB

extracellular space

Inferred from direct assay PubMed 20551380. Source: BHF-UCL

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

melanosome

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionserine-type endopeptidase inhibitor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919
Chain20 – 418399Pigment epithelium-derived factor
PRO_0000032508

Regions

Region371 – 38313O-glycosylated at one site

Amino acid modifications

Modified residue201Pyrrolidone carboxylic acid
Modified residue241Phosphoserine; by CK2 Ref.15
Modified residue1141Phosphoserine; by CK2 Ref.15
Modified residue2271Phosphoserine; by PKA Ref.15
Glycosylation2851N-linked (GlcNAc...) (complex) Ref.16 Ref.18 Ref.19 Ref.23

Natural variations

Natural variant721T → M Polymorphism confirmed at protein level. Ref.1 Ref.2 Ref.3 Ref.5 Ref.8 Ref.9 Ref.10 Ref.12 Ref.24 Ref.25
Corresponds to variant rs1136287 [ dbSNP | Ensembl ].
VAR_009126
Natural variant1321P → R. Ref.9
Corresponds to variant rs1804145 [ dbSNP | Ensembl ].
VAR_025500

Experimental info

Sequence conflict97 – 982EQ → DE in AAA60058. Ref.1
Sequence conflict97 – 982EQ → DE in AAB38685. Ref.10

Secondary structure

.............................................................. 418
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P36955 [UniParc].

Last modified November 30, 2010. Version 4.
Checksum: 7630DD2B4026A0D3

FASTA41846,312
        10         20         30         40         50         60 
MQALVLLLCI GALLGHSSCQ NPASPPEEGS PDPDSTGALV EEEDPFFKVP VNKLAAAVSN 

        70         80         90        100        110        120 
FGYDLYRVRS STSPTTNVLL SPLSVATALS ALSLGAEQRT ESIIHRALYY DLISSPDIHG 

       130        140        150        160        170        180 
TYKELLDTVT APQKNLKSAS RIVFEKKLRI KSSFVAPLEK SYGTRPRVLT GNPRLDLQEI 

       190        200        210        220        230        240 
NNWVQAQMKG KLARSTKEIP DEISILLLGV AHFKGQWVTK FDSRKTSLED FYLDEERTVR 

       250        260        270        280        290        300 
VPMMSDPKAV LRYGLDSDLS CKIAQLPLTG SMSIIFFLPL KVTQNLTLIE ESLTSEFIHD 

       310        320        330        340        350        360 
IDRELKTVQA VLTVPKLKLS YEGEVTKSLQ EMKLQSLFDS PDFSKITGKP IKLTQVEHRA 

       370        380        390        400        410 
GFEWNEDGAG TTPSPGLQPA HLTFPLDYHL NQPFIFVLRD TDTGALLFIG KILDPRGP 

« Hide

References

« Hide 'large scale' references
[1]"Pigment epithelium-derived factor: neurotrophic activity and identification as a member of the serine protease inhibitor gene family."
Steele F.R., Chader G.J., Johnson L.V., Tombran-Tink J.
Proc. Natl. Acad. Sci. U.S.A. 90:1526-1530(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, VARIANT MET-72.
Tissue: Fetal eye.
[2]"Organization, evolutionary conservation, expression and unusual Alu density of the human gene for pigment epithelium-derived factor, a unique neurotrophic serpin."
Tombran-Tink J., Mazuruk K., Rodriguez I.R., Chung D., Linker T., Englander E., Chader G.J.
Mol. Vis. 2:11-11(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-72.
[3]Yin B., Peng X., Yuan J., Qiang B.
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT MET-72.
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"Identification of a human cell proliferation inducing gene."
Kim J.W.
Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-72.
Tissue: Liver cancer.
[6]"Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method."
Oshikawa M., Tsutsui C., Ikegami T., Fuchida Y., Matsubara M., Toyama S., Usami R., Ohtoko K., Kato S.
Invest. Ophthalmol. Vis. Sci. 52:6662-6670(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[7]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT MET-72.
[9]"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], VARIANTS MET-72 AND ARG-132.
Tissue: Muscle.
[10]Coljee V.W.
Thesis (1996), Medical College of Pennsylvania, United States
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-332, VARIANT MET-72.
Tissue: Fetal lung fibroblast.
[11]"Pigment-epithelium-derived factor (PEDF) occurs at a physiologically relevant concentration in human blood: purification and characterization."
Petersen S.V., Valnickova Z., Enghild J.J.
Biochem. J. 374:199-206(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 21-29; 253-262 AND 282-303, TISSUE SPECIFICITY, PYROGLUTAMATE FORMATION AT GLN-20.
Tissue: Plasma.
[12]"Senescent WI-38 cells fail to express EPC-1, a gene induced in young cells upon entry into the G0 state."
Pignolo R.J., Cristofalo V.J., Rotenberg M.O.
J. Biol. Chem. 268:8949-8957(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 60-418, VARIANT MET-72.
Tissue: Fetal lung fibroblast.
[13]"Overexpression of fetal human pigment epithelium-derived factor in Escherichia coli. A functionally active neurotrophic factor."
Becerra S.P., Palmer I., Kumar A., Steele F.R., Shiloach J., Notario V., Chader G.J.
J. Biol. Chem. 268:23148-23156(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[14]"Pigment epithelium-derived factor behaves like a noninhibitory serpin. Neurotrophic activity does not require the serpin reactive loop."
Becerra S.P., Sagasti A., Spinella P., Notario V.
J. Biol. Chem. 270:25992-25999(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[15]"Extracellular phosphorylation converts pigment epithelium-derived factor from a neurotrophic to an antiangiogenic factor."
Maik-Rachline G., Shaltiel S., Seger R.
Blood 105:670-678(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION AT SER-24; SER-114 AND SER-227.
[16]"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-285.
Tissue: Plasma.
[17]"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."
Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F.
J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Melanoma.
[18]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-285.
Tissue: Liver.
[19]"A strategy for precise and large scale identification of core fucosylated glycoproteins."
Jia W., Lu Z., Fu Y., Wang H.P., Wang L.H., Chi H., Yuan Z.F., Zheng Z.B., Song L.N., Han H.H., Liang Y.M., Wang J.L., Cai Y., Zhang Y.K., Deng Y.L., Ying W.T., He S.M., Qian X.H.
Mol. Cell. Proteomics 8:913-923(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION AT ASN-285.
[20]"Enrichment of glycopeptides for glycan structure and attachment site identification."
Nilsson J., Rueetschi U., Halim A., Hesse C., Carlsohn E., Brinkmalm G., Larson G.
Nat. Methods 6:809-811(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS], STRUCTURE OF CARBOHYDRATES.
Tissue: Cerebrospinal fluid.
[21]"Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta."
Becker J., Semler O., Gilissen C., Li Y., Bolz H.J., Giunta C., Bergmann C., Rohrbach M., Koerber F., Zimmermann K., de Vries P., Wirth B., Schoenau E., Wollnik B., Veltman J.A., Hoischen A., Netzer C.
Am. J. Hum. Genet. 88:362-371(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN OI6.
[22]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[23]"Crystal structure of human PEDF, a potent anti-angiogenic and neurite growth-promoting factor."
Simonovic M., Gettins P.G.W., Volz K.
Proc. Natl. Acad. Sci. U.S.A. 98:11131-11135(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.85 ANGSTROMS) OF 21-418, GLYCOSYLATION AT ASN-285.
[24]"Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis."
Koenekoop R., Pina A.L., Loyer M., Davidson J., Robitaille J., Maumenee I., Tombran-Tink J.
Mol. Vis. 5:10-10(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-72.
[25]"Quantitative detection of single amino acid polymorphisms by targeted proteomics."
Su Z.D., Sun L., Yu D.X., Li R.X., Li H.X., Yu Z.J., Sheng Q.H., Lin X., Zeng R., Wu J.R.
J. Mol. Cell Biol. 3:309-315(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-72, IDENTIFICATION BY MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M76979 mRNA. Translation: AAA60058.1.
U29953 Genomic DNA. Translation: AAA84914.1. Frameshift.
AF400442 mRNA. Translation: AAK92491.1.
BT007222 mRNA. Translation: AAP35886.1.
AY513280 mRNA. Translation: AAT08033.1.
AB593011 mRNA. Translation: BAJ83966.1.
AB593012 mRNA. Translation: BAJ83967.1.
AB593013 mRNA. Translation: BAJ83968.1.
AC130343 Genomic DNA. No translation available.
AC130689 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW90577.1.
BC000522 mRNA. Translation: AAH00522.1.
BC013984 mRNA. Translation: AAH13984.1.
AH004879 Genomic DNA. Translation: AAB38685.1.
M90439 mRNA. Translation: AAA93524.1. Different initiation.
PIRA46046.
A47281.
RefSeqNP_002606.3. NM_002615.5.
UniGeneHs.532768.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1IMVX-ray2.85A21-418[»]
ProteinModelPortalP36955.
SMRP36955. Positions 36-418.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111202. 5 interactions.
IntActP36955. 6 interactions.
MINTMINT-7711036.
STRING9606.ENSP00000254722.

Protein family/group databases

MEROPSI04.979.

PTM databases

PhosphoSiteP36955.

Polymorphism databases

DMDM313104314.

2D gel databases

REPRODUCTION-2DPAGEIPI00006114.

Proteomic databases

PaxDbP36955.
PeptideAtlasP36955.
PRIDEP36955.

Protocols and materials databases

DNASU5176.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000254722; ENSP00000254722; ENSG00000132386.
GeneID5176.
KEGGhsa:5176.
UCSCuc002ftl.3. human.

Organism-specific databases

CTD5176.
GeneCardsGC17P001612.
H-InvDBHIX0013408.
HGNCHGNC:8824. SERPINF1.
HPACAB004785.
HPA005825.
MIM172860. gene.
613982. phenotype.
neXtProtNX_P36955.
Orphanet216812. Osteogenesis imperfecta type 3.
PharmGKBPA35508.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4826.
HOGENOMHOG000115489.
HOVERGENHBG106911.
InParanoidP36955.
OMALNCKIAQ.
OrthoDBEOG7K3TMD.
PhylomeDBP36955.
TreeFamTF317350.

Gene expression databases

ArrayExpressP36955.
BgeeP36955.
CleanExHS_SERPINF1.
GenevestigatorP36955.

Family and domain databases

InterProIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERPTHR11461. PTHR11461. 1 hit.
PfamPF00079. Serpin. 1 hit.
[Graphical view]
SMARTSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMSSF56574. SSF56574. 1 hit.
PROSITEPS00284. SERPIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSERPINF1. human.
EvolutionaryTraceP36955.
GeneWikiPEDF.
GenomeRNAi5176.
NextBio20036.
PROP36955.
SOURCESearch...

Entry information

Entry namePEDF_HUMAN
AccessionPrimary (citable) accession number: P36955
Secondary accession number(s): F1T092 expand/collapse secondary AC list , Q13236, Q2TU83, Q96CT1, Q96R01, Q9BWA4
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 30, 2010
Last modified: April 16, 2014
This is version 149 of the entry and version 4 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 17

Human chromosome 17: entries, gene names and cross-references to MIM