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Protein

Peroxisome proliferator-activated receptor delta

Gene

PPARD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Ligand-activated transcription factor. Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma-linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi71 – 145Nuclear receptorPROSITE-ProRule annotationAdd BLAST75
Zinc fingeri74 – 94NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri111 – 133NR C4-typePROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix
R-HSA-204174 Regulation of pyruvate dehydrogenase (PDH) complex
R-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-5362517 Signaling by Retinoic Acid
SignaLinkiQ03181
SIGNORiQ03181

Chemistry databases

SwissLipidsiSLP:000001645

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisome proliferator-activated receptor delta
Short name:
PPAR-delta
Alternative name(s):
NUCI
Nuclear hormone receptor 1
Short name:
NUC1
Nuclear receptor subfamily 1 group C member 2
Peroxisome proliferator-activated receptor beta
Short name:
PPAR-beta
Gene namesi
Name:PPARD
Synonyms:NR1C2, PPARB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112033.13
HGNCiHGNC:9235 PPARD
MIMi600409 gene
neXtProtiNX_Q03181

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi5467
OpenTargetsiENSG00000112033
PharmGKBiPA33557

Chemistry databases

ChEMBLiCHEMBL3979
DrugBankiDB04801 (11E)-OCTADEC-11-ENOIC ACID
DB07070 (2S)-2-{3-[({[2-fluoro-4-(trifluoromethyl)phenyl]carbonyl}amino)methyl]-4-methoxybenzyl}butanoic acid
DB07724 3-{5-methoxy-1-[(4-methoxyphenyl)sulfonyl]-1H-indol-3-yl}propanoic acid
DB01393 Bezafibrate
DB05187 GFT505
DB09462 Glycerin
DB03338 Heptyl-Beta-D-Glucopyranoside
DB00159 Icosapent
DB05188 KD3010
DB00605 Sulindac
DB00374 Treprostinil
DB08078 {4-[3-(4-acetyl-3-hydroxy-2-propylphenoxy)propoxy]phenoxy}acetic acid
GuidetoPHARMACOLOGYi594

Polymorphism and mutation databases

BioMutaiPPARD
DMDMi417522

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000534861 – 441Peroxisome proliferator-activated receptor deltaAdd BLAST441

Proteomic databases

EPDiQ03181
MaxQBiQ03181
PaxDbiQ03181
PeptideAtlasiQ03181
PRIDEiQ03181
ProteomicsDBi58200
58201 [Q03181-2]
58202 [Q03181-3]

PTM databases

iPTMnetiQ03181
PhosphoSitePlusiQ03181

Expressioni

Tissue specificityi

Ubiquitous with maximal levels in placenta and skeletal muscle.

Gene expression databases

BgeeiENSG00000112033 Expressed in 223 organ(s), highest expression level in vagina
CleanExiHS_PPARD
ExpressionAtlasiQ03181 baseline and differential
GenevisibleiQ03181 HS

Organism-specific databases

HPAiCAB017635

Interactioni

Subunit structurei

Heterodimer with the retinoid X receptor.6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111463, 52 interactors
IntActiQ03181, 13 interactors
MINTiQ03181
STRINGi9606.ENSP00000310928

Chemistry databases

BindingDBiQ03181

Structurei

Secondary structure

1441
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ03181
SMRiQ03181
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ03181

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini211 – 439NR LBDPROSITE-ProRule annotationAdd BLAST229

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri74 – 94NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri111 – 133NR C4-typePROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00870000136388
HOGENOMiHOG000261626
HOVERGENiHBG106004
InParanoidiQ03181
KOiK04504
OMAiSLGMSHN
OrthoDBiEOG091G05U8
PhylomeDBiQ03181
TreeFamiTF316304

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR003074 1Cnucl_rcpt
IPR003075 1Cnucl_rcpt_B
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR01288 PROXISOMEPAR
PR01290 PROXISOMPABR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q03181-1) [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
        10         20         30         40         50
MEQPQEEAPE VREEEEKEEV AEAEGAPELN GGPQHALPSS SYTDLSRSSS
60 70 80 90 100
PPSLLDQLQM GCDGASCGSL NMECRVCGDK ASGFHYGVHA CEGCKGFFRR
110 120 130 140 150
TIRMKLEYEK CERSCKIQKK NRNKCQYCRF QKCLALGMSH NAIRFGRMPE
160 170 180 190 200
AEKRKLVAGL TANEGSQYNP QVADLKAFSK HIYNAYLKNF NMTKKKARSI
210 220 230 240 250
LTGKASHTAP FVIHDIETLW QAEKGLVWKQ LVNGLPPYKE ISVHVFYRCQ
260 270 280 290 300
CTTVETVREL TEFAKSIPSF SSLFLNDQVT LLKYGVHEAI FAMLASIVNK
310 320 330 340 350
DGLLVANGSG FVTREFLRSL RKPFSDIIEP KFEFAVKFNA LELDDSDLAL
360 370 380 390 400
FIAAIILCGD RPGLMNVPRV EAIQDTILRA LEFHLQANHP DAQYLFPKLL
410 420 430 440
QKMADLRQLV TEHAQMMQRI KKTETETSLH PLLQEIYKDM Y
Length:441
Mass (Da):49,903
Last modified:October 1, 1993 - v1
Checksum:i94FBB2A4B46521E8
GO
Isoform 2 (identifier: Q03181-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     360-361: DR → GE
     362-441: Missing.

Show »
Length:361
Mass (Da):40,406
Checksum:iF97757AC266EF8BA
GO
Isoform 3 (identifier: Q03181-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2-43: EQPQEEAPEVREEEEKEEVAEAEGAPELNGGPQHALPSSSYT → HQR

Show »
Length:402
Mass (Da):45,764
Checksum:i52A73C33151BCF8A
GO
Isoform 4 (identifier: Q03181-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     44-141: Missing.

Note: No experimental confirmation available.
Show »
Length:343
Mass (Da):38,855
Checksum:i54FB19E6FCE3B21D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti79D → G in BAF84350 (PubMed:14702039).Curated1
Sequence conflicti134L → P in BAH02282 (PubMed:18619963).Curated1
Sequence conflicti191N → D in BAG65615 (PubMed:14702039).Curated1
Sequence conflicti217E → K in BAG65615 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0437872 – 43EQPQE…SSSYT → HQR in isoform 3. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_04610444 – 141Missing in isoform 4. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_010133360 – 361DR → GE in isoform 2. 1 Publication2
Alternative sequenceiVSP_010134362 – 441Missing in isoform 2. 1 PublicationAdd BLAST80

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07592 mRNA Translation: AAA36469.1
AF246303
, AF246299, AF246300, AF246301, AF246302 Genomic DNA Translation: AAF62553.1
AB307691 mRNA Translation: BAH02282.1
AY919140 mRNA Translation: AAX14041.1
AK291661 mRNA Translation: BAF84350.1
AK296425 mRNA Translation: BAH12347.1
AK304878 mRNA Translation: BAG65615.1
AK122614 mRNA Translation: BAG53624.1
AY442342 Genomic DNA Translation: AAR05439.1
AL022721 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03825.1
BC002715 mRNA Translation: AAH02715.1
BC007578 mRNA Translation: AAH07578.1
AB099507 mRNA Translation: BAC78903.1
CCDSiCCDS4803.1 [Q03181-1]
CCDS4804.1 [Q03181-2]
CCDS54994.1 [Q03181-3]
CCDS54995.1 [Q03181-4]
PIRiA45360
RefSeqiNP_001165289.1, NM_001171818.1
NP_001165290.1, NM_001171819.1 [Q03181-3]
NP_001165291.1, NM_001171820.1 [Q03181-4]
NP_006229.1, NM_006238.4 [Q03181-1]
NP_803184.1, NM_177435.2 [Q03181-2]
XP_005249250.1, XM_005249193.1 [Q03181-1]
XP_006715183.1, XM_006715120.1 [Q03181-1]
XP_006715186.1, XM_006715123.1 [Q03181-1]
XP_011513009.1, XM_011514707.1 [Q03181-1]
XP_011513011.1, XM_011514709.1
XP_011513012.1, XM_011514710.1 [Q03181-1]
XP_016866460.1, XM_017010971.1
XP_016866461.1, XM_017010972.1 [Q03181-1]
XP_016866462.1, XM_017010973.1 [Q03181-1]
XP_016866463.1, XM_017010974.1 [Q03181-1]
UniGeneiHs.696032

Genome annotation databases

EnsembliENST00000311565; ENSP00000310928; ENSG00000112033 [Q03181-1]
ENST00000337400; ENSP00000337063; ENSG00000112033 [Q03181-2]
ENST00000360694; ENSP00000353916; ENSG00000112033 [Q03181-1]
ENST00000418635; ENSP00000413314; ENSG00000112033 [Q03181-4]
ENST00000448077; ENSP00000414372; ENSG00000112033 [Q03181-3]
GeneIDi5467
KEGGihsa:5467
UCSCiuc003okm.3 human [Q03181-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs
Wikipedia

Peroxisome proliferator-activated receptor entry

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07592 mRNA Translation: AAA36469.1
AF246303
, AF246299, AF246300, AF246301, AF246302 Genomic DNA Translation: AAF62553.1
AB307691 mRNA Translation: BAH02282.1
AY919140 mRNA Translation: AAX14041.1
AK291661 mRNA Translation: BAF84350.1
AK296425 mRNA Translation: BAH12347.1
AK304878 mRNA Translation: BAG65615.1
AK122614 mRNA Translation: BAG53624.1
AY442342 Genomic DNA Translation: AAR05439.1
AL022721 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03825.1
BC002715 mRNA Translation: AAH02715.1
BC007578 mRNA Translation: AAH07578.1
AB099507 mRNA Translation: BAC78903.1
CCDSiCCDS4803.1 [Q03181-1]
CCDS4804.1 [Q03181-2]
CCDS54994.1 [Q03181-3]
CCDS54995.1 [Q03181-4]
PIRiA45360
RefSeqiNP_001165289.1, NM_001171818.1
NP_001165290.1, NM_001171819.1 [Q03181-3]
NP_001165291.1, NM_001171820.1 [Q03181-4]
NP_006229.1, NM_006238.4 [Q03181-1]
NP_803184.1, NM_177435.2 [Q03181-2]
XP_005249250.1, XM_005249193.1 [Q03181-1]
XP_006715183.1, XM_006715120.1 [Q03181-1]
XP_006715186.1, XM_006715123.1 [Q03181-1]
XP_011513009.1, XM_011514707.1 [Q03181-1]
XP_011513011.1, XM_011514709.1
XP_011513012.1, XM_011514710.1 [Q03181-1]
XP_016866460.1, XM_017010971.1
XP_016866461.1, XM_017010972.1 [Q03181-1]
XP_016866462.1, XM_017010973.1 [Q03181-1]
XP_016866463.1, XM_017010974.1 [Q03181-1]
UniGeneiHs.696032

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GWXX-ray2.50A/B171-441[»]
1Y0SX-ray2.65A/B170-441[»]
2AWHX-ray2.00A/B174-441[»]
2B50X-ray2.00A/B169-440[»]
2BAWX-ray2.30A/B175-441[»]
2ENVNMR-A72-146[»]
2GWXX-ray2.30A/B175-441[»]
2J14X-ray2.80A/B165-441[»]
2Q5GX-ray2.70A/B165-441[»]
2XYJX-ray2.30A/B165-441[»]
2XYWX-ray3.14A/B165-441[»]
2XYXX-ray2.70A/B165-441[»]
2ZNPX-ray3.00A/B170-441[»]
2ZNQX-ray2.65A/B170-441[»]
3D5FX-ray2.20A/B175-441[»]
3DY6X-ray2.90A/B171-441[»]
3ET2X-ray2.24A/B165-441[»]
3GWXX-ray2.40A/B171-441[»]
3GZ9X-ray2.00A171-439[»]
3OZ0X-ray3.00A165-441[»]
3PEQX-ray2.40A/B171-441[»]
3SP9X-ray2.30A/B173-441[»]
3TKMX-ray1.95A171-441[»]
5U3QX-ray1.50A/B170-441[»]
5U3RX-ray1.95A/B170-441[»]
5U3SX-ray2.00A/B170-441[»]
5U3TX-ray1.70A/B170-441[»]
5U3UX-ray2.10A/B170-441[»]
5U3VX-ray1.84A/B170-441[»]
5U3WX-ray1.80A/B170-441[»]
5U3XX-ray2.10A/B170-441[»]
5U3YX-ray1.90A/B170-441[»]
5U3ZX-ray1.72A/B170-441[»]
5U40X-ray2.00A/B170-441[»]
5U41X-ray1.90A/B170-441[»]
5U42X-ray1.70A/B170-441[»]
5U43X-ray1.90A/B170-441[»]
5U44X-ray2.15A/B170-441[»]
5U45X-ray1.95A/B170-441[»]
5U46X-ray2.00A/B170-441[»]
5XMXX-ray2.00A/B171-441[»]
5Y7XX-ray1.70A/B171-441[»]
ProteinModelPortaliQ03181
SMRiQ03181
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111463, 52 interactors
IntActiQ03181, 13 interactors
MINTiQ03181
STRINGi9606.ENSP00000310928

Chemistry databases

BindingDBiQ03181
ChEMBLiCHEMBL3979
DrugBankiDB04801 (11E)-OCTADEC-11-ENOIC ACID
DB07070 (2S)-2-{3-[({[2-fluoro-4-(trifluoromethyl)phenyl]carbonyl}amino)methyl]-4-methoxybenzyl}butanoic acid
DB07724 3-{5-methoxy-1-[(4-methoxyphenyl)sulfonyl]-1H-indol-3-yl}propanoic acid
DB01393 Bezafibrate
DB05187 GFT505
DB09462 Glycerin
DB03338 Heptyl-Beta-D-Glucopyranoside
DB00159 Icosapent
DB05188 KD3010
DB00605 Sulindac
DB00374 Treprostinil
DB08078 {4-[3-(4-acetyl-3-hydroxy-2-propylphenoxy)propoxy]phenoxy}acetic acid
GuidetoPHARMACOLOGYi594
SwissLipidsiSLP:000001645

PTM databases

iPTMnetiQ03181
PhosphoSitePlusiQ03181

Polymorphism and mutation databases

BioMutaiPPARD
DMDMi417522

Proteomic databases

EPDiQ03181
MaxQBiQ03181
PaxDbiQ03181
PeptideAtlasiQ03181
PRIDEiQ03181
ProteomicsDBi58200
58201 [Q03181-2]
58202 [Q03181-3]

Protocols and materials databases

DNASUi5467
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311565; ENSP00000310928; ENSG00000112033 [Q03181-1]
ENST00000337400; ENSP00000337063; ENSG00000112033 [Q03181-2]
ENST00000360694; ENSP00000353916; ENSG00000112033 [Q03181-1]
ENST00000418635; ENSP00000413314; ENSG00000112033 [Q03181-4]
ENST00000448077; ENSP00000414372; ENSG00000112033 [Q03181-3]
GeneIDi5467
KEGGihsa:5467
UCSCiuc003okm.3 human [Q03181-1]

Organism-specific databases

CTDi5467
DisGeNETi5467
EuPathDBiHostDB:ENSG00000112033.13
GeneCardsiPPARD
H-InvDBiHIX0165038
HGNCiHGNC:9235 PPARD
HPAiCAB017635
MIMi600409 gene
neXtProtiNX_Q03181
OpenTargetsiENSG00000112033
PharmGKBiPA33557
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00870000136388
HOGENOMiHOG000261626
HOVERGENiHBG106004
InParanoidiQ03181
KOiK04504
OMAiSLGMSHN
OrthoDBiEOG091G05U8
PhylomeDBiQ03181
TreeFamiTF316304

Enzyme and pathway databases

ReactomeiR-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix
R-HSA-204174 Regulation of pyruvate dehydrogenase (PDH) complex
R-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-5362517 Signaling by Retinoic Acid
SignaLinkiQ03181
SIGNORiQ03181

Miscellaneous databases

ChiTaRSiPPARD human
EvolutionaryTraceiQ03181
GeneWikiiPeroxisome_proliferator-activated_receptor_delta
GenomeRNAii5467
PROiPR:Q03181
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112033 Expressed in 223 organ(s), highest expression level in vagina
CleanExiHS_PPARD
ExpressionAtlasiQ03181 baseline and differential
GenevisibleiQ03181 HS

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR003074 1Cnucl_rcpt
IPR003075 1Cnucl_rcpt_B
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR01288 PROXISOMEPAR
PR01290 PROXISOMPABR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPPARD_HUMAN
AccessioniPrimary (citable) accession number: Q03181
Secondary accession number(s): A8K6J6
, B4E3V3, B6ZGS1, B7Z3W1, E9PE18, Q5D1P0, Q7Z5K0, Q9BUD4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: October 10, 2018
This is version 221 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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