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Q9NST1 (PLPL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 107. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Patatin-like phospholipase domain-containing protein 3

EC=3.1.1.3
Alternative name(s):
Acylglycerol O-acyltransferase
EC=2.3.1.-
Adiponutrin
Calcium-independent phospholipase A2-epsilon
Short name=iPLA2-epsilon
Gene names
Name:PNPLA3
Synonyms:ADPN, C22orf20
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length481 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities. Ref.7

Catalytic activity

Triacylglycerol + H2O = diacylglycerol + a carboxylate.

Pathway

Glycerolipid metabolism; triacylglycerol degradation.

Subcellular location

Membrane; Single-pass type II membrane protein Ref.7.

Induction

By changes in energy balance: down-regulated following very low-calorie diet, whereas refeeding elevates the mRNA level. Ref.8

Polymorphism

Polymorphic variation at position 148 influences insulin secretion levels and obesity. In obese subjects the body mass index and waist are higher in carriers of the Ile-148 allele. The Ile-148 carriers also display decreased insulin secretion in response to oral glucose tolerance test. Met-148 allele carriers are seemingly more insulin resistant at a lower body mass index.

Involvement in disease

Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]: A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.13

Sequence similarities

Contains 1 patatin domain.

Ontologies

Keywords
   Biological processLipid degradation
Lipid metabolism
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseObesity
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   Molecular functionAcyltransferase
Hydrolase
Transferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processacylglycerol acyl-chain remodeling

Traceable author statement. Source: Reactome

glycerophospholipid biosynthetic process

Traceable author statement. Source: Reactome

phospholipid metabolic process

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

triglyceride biosynthetic process

Inferred from direct assay Ref.7. Source: UniProtKB

triglyceride catabolic process

Inferred from direct assay Ref.7. Source: UniProtKB

   Cellular_componentendoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

membrane

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functiondiolein transacylation activity

Inferred from direct assay Ref.7. Source: UniProtKB

mono-olein transacylation activity

Inferred from direct assay Ref.7. Source: UniProtKB

phospholipase A2 activity

Inferred from direct assay Ref.7. Source: UniProtKB

triglyceride lipase activity

Inferred from direct assay Ref.7. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NST1-1)

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: Q9NST1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     59-62: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 481481Patatin-like phospholipase domain-containing protein 3
PRO_0000064458

Regions

Topological domain1 – 4141Cytoplasmic Potential
Transmembrane42 – 6221Helical; Signal-anchor for type II membrane protein; Potential
Topological domain63 – 481419Lumenal Potential
Domain10 – 179170Patatin
Motif45 – 495GXSXG

Sites

Active site471 By similarity

Amino acid modifications

Glycosylation891N-linked (GlcNAc...) Potential
Glycosylation2801N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence59 – 624Missing in isoform 2.
VSP_036222
Natural variant991C → G. Ref.6
Corresponds to variant rs2076213 [ dbSNP | Ensembl ].
VAR_015845
Natural variant1151G → C. Ref.3
Corresponds to variant rs2076212 [ dbSNP | Ensembl ].
VAR_015846
Natural variant1481I → M Common polymorphism; fails to hydrolyze emulsified triglycerides; associated with increased hepatic fat content and serum aspartate aminotransferase concentrations. Ref.3 Ref.6 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13
Corresponds to variant rs738409 [ dbSNP | Ensembl ].
VAR_019961
Natural variant2161T → P.
Corresponds to variant rs35726887 [ dbSNP | Ensembl ].
VAR_053814
Natural variant4341K → E. Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs2294918 [ dbSNP | Ensembl ].
VAR_015847
Natural variant4531S → I Common polymorphism; associated with lower hepatic fat content in African Americans. Ref.10
Corresponds to variant rs6006460 [ dbSNP | Ensembl ].
VAR_053815

Sequences

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

Last modified March 1, 2002. Version 2.
Checksum: 1ED0341B5AF5B6CB

FASTA48152,865
        10         20         30         40         50         60 
MYDAERGWSL SFAGCGFLGF YHVGATRCLS EHAPHLLRDA RMLFGASAGA LHCVGVLSGI 

        70         80         90        100        110        120 
PLEQTLQVLS DLVRKARSRN IGIFHPSFNL SKFLRQGLCK CLPANVHQLI SGKIGISLTR 

       130        140        150        160        170        180 
VSDGENVLVS DFRSKDEVVD ALVCSCFIPF YSGLIPPSFR GVRYVDGGVS DNVPFIDAKT 

       190        200        210        220        230        240 
TITVSPFYGE YDICPKVKST NFLHVDITKL SLRLCTGNLY LLSRAFVPPD LKVLGEICLR 

       250        260        270        280        290        300 
GYLDAFRFLE EKGICNRPQP GLKSSSEGMD PEVAMPSWAN MSLDSSPESA ALAVRLEGDE 

       310        320        330        340        350        360 
LLDHLRLSIL PWDESILDTL SPRLATALSE EMKDKGGYMS KICNLLPIRI MSYVMLPCTL 

       370        380        390        400        410        420 
PVESAIAIVQ RLVTWLPDMP DDVLWLQWVT SQVFTRVLMC LLPASRSQMP VSSQQASPCT 

       430        440        450        460        470        480 
PEQDWPCWTP CSPKGCPAET KAEATPRSIL RSSLNFFLGN KVPAGAEGLS TFPSFSLEKS 


L 

« Hide

Isoform 2 [UniParc].

Checksum: 1E9811016FDC88C1
Show »

FASTA47752,485

References

« Hide 'large scale' references
[1]"Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-434.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS CYS-115; MET-148 AND GLU-434.
Tissue: Brain and Teratocarcinoma.
[4]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]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], VARIANT GLU-434.
[6]"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 1), VARIANTS GLY-99; MET-148 AND GLU-434.
Tissue: Brain and Skin.
[7]"Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities."
Jenkins C.M., Mancuso D.J., Yan W., Sims H.F., Gibson B., Gross R.W.
J. Biol. Chem. 279:48968-48975(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[8]"Adiponutrin: A new gene regulated by energy balance in human adipose tissue."
Liu Y.-M., Moldes M., Bastard J.-P., Bruckert E., Viguerie N., Hainque B., Basdevant A., Langin D., Pairault J., Clement K.
J. Clin. Endocrinol. Metab. 89:2684-2689(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
[9]"Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity."
Johansson L.E., Lindblad U., Larsson C.A., Raastam L., Ridderstraale M.
Eur. J. Endocrinol. 159:577-583(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-148, POLYMORPHISM.
[10]"Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease."
Romeo S., Kozlitina J., Xing C., Pertsemlidis A., Cox D., Pennacchio L.A., Boerwinkle E., Cohen J.C., Hobbs H.H.
Nat. Genet. 40:1461-1465(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MET-148 AND ILE-453, INVOLVEMENT IN SUSCEPTIBILITY TO NAFLD1.
[11]"A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans."
Kotronen A., Johansson L.E., Johansson L.M., Roos C., Westerbacka J., Hamsten A., Bergholm R., Arkkila P., Arola J., Kiviluoto T., Fisher R.M., Ehrenborg E., Orho-Melander M., Ridderstrale M., Groop L., Yki-Jarvinen H.
Diabetologia 52:1056-1060(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-148, INVOLVEMENT IN SUSCEPTIBILITY TO NAFLD1.
[12]"A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis."
He S., McPhaul C., Li J.Z., Garuti R., Kinch L., Grishin N.V., Cohen J.C., Hobbs H.H.
J. Biol. Chem. 285:6706-6715(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT MET-148.
[13]"A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity."
Sookoian S., Castano G.O., Burgueno A.L., Gianotti T.F., Rosselli M.S., Pirola C.J.
J. Lipid Res. 50:2111-2116(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-148, INVOLVEMENT IN SUSCEPTIBILITY TO NAFLD1.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL138578 mRNA. Translation: CAB71238.2.
CR456476 mRNA. Translation: CAG30362.1.
AK123806 mRNA. Translation: BAG53962.1.
AK315166 mRNA. Translation: BAG37610.1.
AL023654, AL035398 Genomic DNA. Translation: CAI21791.1.
AL035398, AL023654 Genomic DNA. Translation: CAI22840.1.
AL023654, AL035398 Genomic DNA. Translation: CAQ07959.1.
AL035398, AL023654 Genomic DNA. Translation: CAQ09484.1.
CH471138 Genomic DNA. Translation: EAW73324.1.
BC014449 mRNA. Translation: AAH14449.2.
BC065195 mRNA. Translation: AAH65195.1.
RefSeqNP_079501.2. NM_025225.2.
UniGeneHs.654800.

3D structure databases

ProteinModelPortalQ9NST1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123247. 2 interactions.
IntActQ9NST1. 2 interactions.
STRING9606.ENSP00000216180.

PTM databases

PhosphoSiteQ9NST1.

Polymorphism databases

DMDM32469599.

Proteomic databases

PaxDbQ9NST1.
PRIDEQ9NST1.

Protocols and materials databases

DNASU80339.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000216180; ENSP00000216180; ENSG00000100344. [Q9NST1-1]
ENST00000423180; ENSP00000397987; ENSG00000100344. [Q9NST1-2]
GeneID80339.
KEGGhsa:80339.
UCSCuc003bei.1. human. [Q9NST1-1]

Organism-specific databases

CTD80339.
GeneCardsGC22P044319.
H-InvDBHIX0159175.
HGNCHGNC:18590. PNPLA3.
HPAHPA058058.
MIM609567. gene.
613282. phenotype.
neXtProtNX_Q9NST1.
Orphanet33271. Non-alcoholic fatty liver disease.
PharmGKBPA38592.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261571.
HOGENOMHOG000007467.
HOVERGENHBG007046.
InParanoidQ9NST1.
KOK13534.
OMAFDAKTTI.
OrthoDBEOG7J9VQR.
PhylomeDBQ9NST1.
TreeFamTF314272.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
UniPathwayUPA00256.

Gene expression databases

ArrayExpressQ9NST1.
BgeeQ9NST1.
CleanExHS_PNPLA3.
GenevestigatorQ9NST1.

Family and domain databases

InterProIPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
[Graphical view]
PfamPF01734. Patatin. 1 hit.
[Graphical view]
SUPFAMSSF52151. SSF52151. 1 hit.
ProtoNetSearch...

Other

GeneWikiPNPLA3.
GenomeRNAi80339.
NextBio70910.
PROQ9NST1.
SOURCESearch...

Entry information

Entry namePLPL3_HUMAN
AccessionPrimary (citable) accession number: Q9NST1
Secondary accession number(s): B0QYI0 expand/collapse secondary AC list , B2RCL3, B3KW00, Q6P1A1, Q96CB4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: March 1, 2002
Last modified: April 16, 2014
This is version 107 of the entry and version 2 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

PATHWAY comments

Index of metabolic and biosynthesis pathways

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 22

Human chromosome 22: entries, gene names and cross-references to MIM