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Protein

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

Gene

ALDH4A1

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

Functioni

Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.1 Publication

Catalytic activityi

L-glutamate 5-semialdehyde + NAD+ + H2O = L-glutamate + NADH.1 Publication

Kineticsi

  1. KM=100 µM for NAD1 Publication
  2. KM=32 µM for L-pyrroline-5-carboxylate1 Publication

    Pathwayi: L-proline degradation into L-glutamate

    This protein is involved in step 2 of the subpathway that synthesizes L-glutamate from L-proline.1 Publication
    Proteins known to be involved in the 2 steps of the subpathway in this organism are:
    1. Proline dehydrogenase 1, mitochondrial (PRODH)
    2. Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
    This subpathway is part of the pathway L-proline degradation into L-glutamate, which is itself part of Amino-acid degradation.
    View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-glutamate from L-proline, the pathway L-proline degradation into L-glutamate and in Amino-acid degradation.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei208NADBy similarity1
    Sitei211Transition state stabilizerBy similarity1
    Binding sitei233NADBy similarity1
    Active sitei314Proton acceptorPROSITE-ProRule annotation1
    Active sitei348NucleophilePROSITE-ProRule annotation1 Publication1
    Binding sitei447NADBy similarity1
    Binding sitei513SubstrateBy similarity1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Nucleotide bindingi286 – 290NADBy similarity5

    GO - Molecular functioni

    • 1-pyrroline-5-carboxylate dehydrogenase activity Source: Reactome
    • aldehyde dehydrogenase (NAD) activity Source: CACAO
    • electron transfer activity Source: UniProtKB
    • identical protein binding Source: IntAct

    GO - Biological processi

    Keywordsi

    Molecular functionOxidoreductase
    Biological processProline metabolism
    LigandNAD

    Enzyme and pathway databases

    BioCyciMetaCyc:HS14757-MONOMER
    BRENDAi1.2.1.88 2681
    ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation
    R-HSA-70688 Proline catabolism
    SABIO-RKiP30038
    UniPathwayi
    UPA00261;UER00374

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (EC:1.2.1.88)
    Short name:
    P5C dehydrogenase
    Alternative name(s):
    Aldehyde dehydrogenase family 4 member A1
    L-glutamate gamma-semialdehyde dehydrogenase
    Gene namesi
    Name:ALDH4A1
    Synonyms:ALDH4, P5CDH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 1

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000159423.16
    HGNCiHGNC:406 ALDH4A1
    MIMi606811 gene
    neXtProtiNX_P30038

    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

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Hyperprolinemia 2 (HYRPRO2)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.
    See also OMIM:239510
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_002260352S → L in HYRPRO2; allele ALDH4A1*3; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs137852937EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi352S → A: Reduced affinity for NAD. No effect on enzyme activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi8659
    MalaCardsiALDH4A1
    MIMi239510 phenotype
    OpenTargetsiENSG00000159423
    Orphaneti79101 Hyperprolinemia type 2
    PharmGKBiPA24701

    Chemistry databases

    ChEMBLiCHEMBL3414418
    DrugBankiDB00157 NADH

    Polymorphism and mutation databases

    BioMutaiALDH4A1
    DMDMi62511241

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transit peptidei1 – 24Mitochondrion1 PublicationAdd BLAST24
    ChainiPRO_000000717325 – 563Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrialAdd BLAST539

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei31N6-succinyllysineBy similarity1
    Modified residuei44PhosphoserineCombined sources1
    Modified residuei52N6-acetyllysineBy similarity1
    Modified residuei93N6-acetyllysine; alternateBy similarity1
    Modified residuei93N6-succinyllysine; alternateBy similarity1
    Modified residuei99N6-acetyllysine; alternateBy similarity1
    Modified residuei99N6-succinyllysine; alternateBy similarity1
    Modified residuei114N6-acetyllysine; alternateBy similarity1
    Modified residuei114N6-succinyllysine; alternateBy similarity1
    Modified residuei130N6-acetyllysine; alternateBy similarity1
    Modified residuei130N6-succinyllysine; alternateBy similarity1
    Modified residuei175N6-acetyllysine; alternateBy similarity1
    Modified residuei175N6-succinyllysine; alternateBy similarity1
    Modified residuei318N6-acetyllysineBy similarity1
    Modified residuei347N6-succinyllysineBy similarity1
    Modified residuei365N6-acetyllysineBy similarity1
    Modified residuei376N6-acetyllysineBy similarity1
    Modified residuei395N6-succinyllysineBy similarity1
    Modified residuei462N6-acetyllysineBy similarity1
    Modified residuei509N6-acetyllysine; alternateBy similarity1
    Modified residuei509N6-succinyllysine; alternateBy similarity1
    Modified residuei531N6-acetyllysineBy similarity1
    Modified residuei552N6-acetyllysineBy similarity1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    EPDiP30038
    MaxQBiP30038
    PaxDbiP30038
    PeptideAtlasiP30038
    PRIDEiP30038
    ProteomicsDBi54616
    54617 [P30038-2]

    2D gel databases

    OGPiP30038
    SWISS-2DPAGEiP30038

    PTM databases

    CarbonylDBiP30038
    iPTMnetiP30038
    PhosphoSitePlusiP30038

    Expressioni

    Tissue specificityi

    Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.

    Gene expression databases

    BgeeiENSG00000159423 Expressed in 188 organ(s), highest expression level in adult mammalian kidney
    CleanExiHS_ALDH4A1
    ExpressionAtlasiP30038 baseline and differential
    GenevisibleiP30038 HS

    Organism-specific databases

    HPAiCAB004645
    HPA006401

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself2EBI-3926971,EBI-3926971

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi114208, 23 interactors
    IntActiP30038, 5 interactors
    STRINGi9606.ENSP00000290597

    Structurei

    Secondary structure

    1563
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliP30038
    SMRiP30038
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the aldehyde dehydrogenase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiKOG2455 Eukaryota
    COG1012 LUCA
    GeneTreeiENSGT00560000077335
    HOVERGENiHBG050484
    InParanoidiP30038
    KOiK00294
    OMAiFAGIHFT
    OrthoDBiEOG091G085N
    PhylomeDBiP30038
    TreeFamiTF300481

    Family and domain databases

    CDDicd07123 ALDH_F4-17_P5CDH, 1 hit
    Gene3Di3.40.309.10, 1 hit
    3.40.605.10, 1 hit
    InterProiView protein in InterPro
    IPR016161 Ald_DH/histidinol_DH
    IPR016163 Ald_DH_C
    IPR016160 Ald_DH_CS_CYS
    IPR029510 Ald_DH_CS_GLU
    IPR016162 Ald_DH_N
    IPR015590 Aldehyde_DH_dom
    IPR005931 P5CDH/ALDH4A1
    PfamiView protein in Pfam
    PF00171 Aldedh, 1 hit
    SUPFAMiSSF53720 SSF53720, 1 hit
    TIGRFAMsiTIGR01236 D1pyr5carbox1, 1 hit
    PROSITEiView protein in PROSITE
    PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
    PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit

    Sequences (3+)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: P30038-1) [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
    MLLPAPALRR ALLSRPWTGA GLRWKHTSSL KVANEPVLAF TQGSPERDAL
    60 70 80 90 100
    QKALKDLKGR MEAIPCVVGD EEVWTSDVQY QVSPFNHGHK VAKFCYADKS
    110 120 130 140 150
    LLNKAIEAAL AARKEWDLKP IADRAQIFLK AADMLSGPRR AEILAKTMVG
    160 170 180 190 200
    QGKTVIQAEI DAAAELIDFF RFNAKYAVEL EGQQPISVPP STNSTVYRGL
    210 220 230 240 250
    EGFVAAISPF NFTAIGGNLA GAPALMGNVV LWKPSDTAML ASYAVYRILR
    260 270 280 290 300
    EAGLPPNIIQ FVPADGPLFG DTVTSSEHLC GINFTGSVPT FKHLWKQVAQ
    310 320 330 340 350
    NLDRFHTFPR LAGECGGKNF HFVHRSADVE SVVSGTLRSA FEYGGQKCSA
    360 370 380 390 400
    CSRLYVPHSL WPQIKGRLLE EHSRIKVGDP AEDFGTFFSA VIDAKSFARI
    410 420 430 440 450
    KKWLEHARSS PSLTILAGGK CDDSVGYFVE PCIVESKDPQ EPIMKEEIFG
    460 470 480 490 500
    PVLSVYVYPD DKYKETLQLV DSTTSYGLTG AVFSQDKDVV QEATKVLRNA
    510 520 530 540 550
    AGNFYINDKS TGSIVGQQPF GGARASGTND KPGGPHYILR WTSPQVIKET
    560
    HKPLGDWSYA YMQ
    Length:563
    Mass (Da):61,719
    Last modified:February 1, 2005 - v3
    Checksum:i4D964771B7DB5FFD
    GO
    Isoform 2 (identifier: P30038-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-60: Missing.

    Show »
    Length:503
    Mass (Da):55,118
    Checksum:i51F7786045941395
    GO
    Isoform 3 (identifier: P30038-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         396-446: Missing.

    Show »
    Length:512
    Mass (Da):56,043
    Checksum:i1AA9C976895301FE
    GO

    Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    Q5TF55Q5TF55_HUMAN
    Delta-1-pyrroline-5-carboxylate deh...
    ALDH4A1
    214Annotation score:

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti68V → M in AAC50501 (PubMed:8621661).Curated1
    Sequence conflicti68V → M in AAC50500 (PubMed:8621661).Curated1
    Sequence conflicti189 – 191PPS → LPY AA sequence (PubMed:8493898).Curated3
    Sequence conflicti189P → L AA sequence (PubMed:1395511).Curated1
    Sequence conflicti226M → I in BAD96206 (Ref. 4) Curated1
    Sequence conflicti271D → E AA sequence (PubMed:1395511).Curated1
    Sequence conflicti271D → E AA sequence (PubMed:8493898).Curated1
    Sequence conflicti354L → K AA sequence (PubMed:8493898).Curated1
    Sequence conflicti376K → R in BAD96206 (Ref. 4) Curated1
    Sequence conflicti524 – 526RAS → GSA AA sequence (PubMed:8493898).Curated3

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_00225916P → L in allele ALDH4A1*4. 1 PublicationCorresponds to variant dbSNP:rs146450609EnsemblClinVar.1
    Natural variantiVAR_002260352S → L in HYRPRO2; allele ALDH4A1*3; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs137852937EnsemblClinVar.1
    Natural variantiVAR_029337470V → I2 PublicationsCorresponds to variant dbSNP:rs2230709EnsemblClinVar.1
    Natural variantiVAR_048903473T → A. Corresponds to variant dbSNP:rs6695033EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0437851 – 60Missing in isoform 2. 1 PublicationAdd BLAST60
    Alternative sequenceiVSP_047732396 – 446Missing in isoform 3. 1 PublicationAdd BLAST51

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U24267 mRNA Translation: AAC50501.1
    U24266 mRNA Translation: AAC50500.1
    FJ462711 mRNA Translation: ACN89883.1
    AK289972 mRNA Translation: BAF82661.1
    AK294552 mRNA Translation: BAG57755.1
    AK222486 mRNA Translation: BAD96206.1
    AL080251 Genomic DNA No translation available.
    AL954340 Genomic DNA No translation available.
    BX537160 Genomic DNA No translation available.
    CH471134 Genomic DNA Translation: EAW94858.1
    BC007581 mRNA Translation: AAH07581.1
    BC023600 mRNA Translation: AAH23600.1
    CCDSiCCDS188.1 [P30038-1]
    CCDS53272.1 [P30038-2]
    CCDS81273.1 [P30038-3]
    RefSeqiNP_001154976.1, NM_001161504.1 [P30038-2]
    NP_001306147.1, NM_001319218.1 [P30038-3]
    NP_003739.2, NM_003748.3 [P30038-1]
    NP_733844.1, NM_170726.2 [P30038-1]
    UniGeneiHs.77448

    Genome annotation databases

    EnsembliENST00000290597; ENSP00000290597; ENSG00000159423 [P30038-1]
    ENST00000375341; ENSP00000364490; ENSG00000159423 [P30038-1]
    ENST00000538309; ENSP00000442988; ENSG00000159423 [P30038-2]
    ENST00000538839; ENSP00000446071; ENSG00000159423 [P30038-3]
    GeneIDi8659
    KEGGihsa:8659
    UCSCiuc001bbb.4 human [P30038-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U24267 mRNA Translation: AAC50501.1
    U24266 mRNA Translation: AAC50500.1
    FJ462711 mRNA Translation: ACN89883.1
    AK289972 mRNA Translation: BAF82661.1
    AK294552 mRNA Translation: BAG57755.1
    AK222486 mRNA Translation: BAD96206.1
    AL080251 Genomic DNA No translation available.
    AL954340 Genomic DNA No translation available.
    BX537160 Genomic DNA No translation available.
    CH471134 Genomic DNA Translation: EAW94858.1
    BC007581 mRNA Translation: AAH07581.1
    BC023600 mRNA Translation: AAH23600.1
    CCDSiCCDS188.1 [P30038-1]
    CCDS53272.1 [P30038-2]
    CCDS81273.1 [P30038-3]
    RefSeqiNP_001154976.1, NM_001161504.1 [P30038-2]
    NP_001306147.1, NM_001319218.1 [P30038-3]
    NP_003739.2, NM_003748.3 [P30038-1]
    NP_733844.1, NM_170726.2 [P30038-1]
    UniGeneiHs.77448

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    3V9GX-ray2.50A/B/C/D18-563[»]
    3V9HX-ray2.40A/B/C/D18-563[»]
    3V9IX-ray2.85A/B/C/D18-563[»]
    4OE5X-ray1.95A/B/C/D18-563[»]
    ProteinModelPortaliP30038
    SMRiP30038
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi114208, 23 interactors
    IntActiP30038, 5 interactors
    STRINGi9606.ENSP00000290597

    Chemistry databases

    ChEMBLiCHEMBL3414418
    DrugBankiDB00157 NADH

    PTM databases

    CarbonylDBiP30038
    iPTMnetiP30038
    PhosphoSitePlusiP30038

    Polymorphism and mutation databases

    BioMutaiALDH4A1
    DMDMi62511241

    2D gel databases

    OGPiP30038
    SWISS-2DPAGEiP30038

    Proteomic databases

    EPDiP30038
    MaxQBiP30038
    PaxDbiP30038
    PeptideAtlasiP30038
    PRIDEiP30038
    ProteomicsDBi54616
    54617 [P30038-2]

    Protocols and materials databases

    DNASUi8659
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000290597; ENSP00000290597; ENSG00000159423 [P30038-1]
    ENST00000375341; ENSP00000364490; ENSG00000159423 [P30038-1]
    ENST00000538309; ENSP00000442988; ENSG00000159423 [P30038-2]
    ENST00000538839; ENSP00000446071; ENSG00000159423 [P30038-3]
    GeneIDi8659
    KEGGihsa:8659
    UCSCiuc001bbb.4 human [P30038-1]

    Organism-specific databases

    CTDi8659
    DisGeNETi8659
    EuPathDBiHostDB:ENSG00000159423.16
    GeneCardsiALDH4A1
    HGNCiHGNC:406 ALDH4A1
    HPAiCAB004645
    HPA006401
    MalaCardsiALDH4A1
    MIMi239510 phenotype
    606811 gene
    neXtProtiNX_P30038
    OpenTargetsiENSG00000159423
    Orphaneti79101 Hyperprolinemia type 2
    PharmGKBiPA24701
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG2455 Eukaryota
    COG1012 LUCA
    GeneTreeiENSGT00560000077335
    HOVERGENiHBG050484
    InParanoidiP30038
    KOiK00294
    OMAiFAGIHFT
    OrthoDBiEOG091G085N
    PhylomeDBiP30038
    TreeFamiTF300481

    Enzyme and pathway databases

    UniPathwayi
    UPA00261;UER00374

    BioCyciMetaCyc:HS14757-MONOMER
    BRENDAi1.2.1.88 2681
    ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation
    R-HSA-70688 Proline catabolism
    SABIO-RKiP30038

    Miscellaneous databases

    ChiTaRSiALDH4A1 human
    GeneWikiiAldehyde_dehydrogenase_4_family,_member_A1
    GenomeRNAii8659
    PROiPR:P30038
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000159423 Expressed in 188 organ(s), highest expression level in adult mammalian kidney
    CleanExiHS_ALDH4A1
    ExpressionAtlasiP30038 baseline and differential
    GenevisibleiP30038 HS

    Family and domain databases

    CDDicd07123 ALDH_F4-17_P5CDH, 1 hit
    Gene3Di3.40.309.10, 1 hit
    3.40.605.10, 1 hit
    InterProiView protein in InterPro
    IPR016161 Ald_DH/histidinol_DH
    IPR016163 Ald_DH_C
    IPR016160 Ald_DH_CS_CYS
    IPR029510 Ald_DH_CS_GLU
    IPR016162 Ald_DH_N
    IPR015590 Aldehyde_DH_dom
    IPR005931 P5CDH/ALDH4A1
    PfamiView protein in Pfam
    PF00171 Aldedh, 1 hit
    SUPFAMiSSF53720 SSF53720, 1 hit
    TIGRFAMsiTIGR01236 D1pyr5carbox1, 1 hit
    PROSITEiView protein in PROSITE
    PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
    PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiAL4A1_HUMAN
    AccessioniPrimary (citable) accession number: P30038
    Secondary accession number(s): A8K1Q7
    , B4DGE4, D2D4A3, Q16882, Q53HU4, Q5JNV6, Q8IZ38, Q96IF0, Q9UDI6
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: February 1, 2005
    Last modified: November 7, 2018
    This is version 192 of the entry and version 3 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, Direct protein sequencing, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

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