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Protein

Fructose-bisphosphate aldolase B

Gene

ALDOB

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

Functioni

Miscellaneous

In vertebrates, 3 forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain.

Catalytic activityi

D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.

Kineticsi

  1. KM=1.6 µM for fructose 1,6-bisphosphate1 Publication
  2. KM=2.3 mM for fructose 1-phosphate1 Publication

    Pathwayi: glycolysis

    This protein is involved in step 4 of the subpathway that synthesizes D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose.
    Proteins known to be involved in the 4 steps of the subpathway in this organism are:
    1. no protein annotated in this organism
    2. Glucose-6-phosphate isomerase (GPI), Glucose-6-phosphate isomerase (GPI), Glucose-6-phosphate isomerase (GPI), Glucose-6-phosphate isomerase, Glucose-6-phosphate isomerase, Glucose-6-phosphate isomerase (GPI), Glucose-6-phosphate isomerase (pgi), Glucose-6-phosphate isomerase (GPI), Glucose-6-phosphate isomerase (GPI), Glucose-6-phosphate isomerase
    3. ATP-dependent 6-phosphofructokinase, muscle type (PFKM), ATP-dependent 6-phosphofructokinase, liver type (PFKL), ATP-dependent 6-phosphofructokinase, platelet type (PFKP), ATP-dependent 6-phosphofructokinase (PFKM), ATP-dependent 6-phosphofructokinase (PFKM)
    4. Fructose-bisphosphate aldolase B (ALDOB), Fructose-bisphosphate aldolase A (ALDOA), Fructose-bisphosphate aldolase C (ALDOC), Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase (ALDOC), Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase (ALDOB), Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase (BQ8482_350140), Fructose-bisphosphate aldolase (ALDOA), Fructose-bisphosphate aldolase (ALDOA), Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase, Fructose-bisphosphate aldolase (HEL-S-87p), Fructose-bisphosphate aldolase (ALDOC), Fructose-bisphosphate aldolase (ALDOB), Fructose-bisphosphate aldolase (ALDOA), Fructose-bisphosphate aldolase (ALDOA)
    This subpathway is part of the pathway glycolysis, which is itself part of Carbohydrate degradation.
    View all proteins of this organism that are known to be involved in the subpathway that synthesizes D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose, the pathway glycolysis and in Carbohydrate degradation.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei56Substrate1
    Binding sitei147Substrate1
    Active sitei188Proton acceptorBy similarity1
    Active sitei230Schiff-base intermediate with dihydroxyacetone-P1
    Sitei364Necessary for preference for fructose 1,6-bisphosphate over fructose 1-phosphate1

    GO - Molecular functioni

    • ATPase binding Source: BHF-UCL
    • cytoskeletal protein binding Source: BHF-UCL
    • fructose-1-phosphate aldolase activity Source: MGI
    • fructose binding Source: BHF-UCL
    • fructose-bisphosphate aldolase activity Source: BHF-UCL
    • identical protein binding Source: BHF-UCL

    GO - Biological processi

    Keywordsi

    Molecular functionLyase
    Biological processGlycolysis
    LigandSchiff base

    Enzyme and pathway databases

    BioCyciMetaCyc:HS06234-MONOMER
    BRENDAi4.1.2.13 2681
    ReactomeiR-HSA-5657560 Hereditary fructose intolerance
    R-HSA-70171 Glycolysis
    R-HSA-70263 Gluconeogenesis
    R-HSA-70350 Fructose catabolism
    SABIO-RKiP05062
    SIGNORiP05062
    UniPathwayi
    UPA00109;UER00183

    Protein family/group databases

    MoonDBiP05062 Curated

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fructose-bisphosphate aldolase B (EC:4.1.2.13)
    Alternative name(s):
    Liver-type aldolase
    Gene namesi
    Name:ALDOB
    Synonyms:ALDB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 9

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000136872.17
    HGNCiHGNC:417 ALDOB
    MIMi612724 gene
    neXtProtiNX_P05062

    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

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Hereditary fructose intolerance (HFI)11 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAutosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life.
    See also OMIM:229600
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07534846R → W in HFI; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs41281039EnsemblClinVar.1
    Natural variantiVAR_02082274I → T in HFI; affects proper folding. 1 PublicationCorresponds to variant dbSNP:rs781023784EnsemblClinVar.1
    Natural variantiVAR_020823120 – 121Missing in HFI. 1 Publication2
    Natural variantiVAR_000551135C → R in HFI; America; partial activity. 1 Publication1
    Natural variantiVAR_000553150A → P in HFI; frequent mutation. 6 PublicationsCorresponds to variant dbSNP:rs1800546EnsemblClinVar.1
    Natural variantiVAR_000554175A → D in HFI; frequent mutation. 6 PublicationsCorresponds to variant dbSNP:rs76917243EnsemblClinVar.1
    Natural variantiVAR_058211178C → R in HFI. 1 Publication1
    Natural variantiVAR_020824185P → R in HFI. 1 Publication1
    Natural variantiVAR_020826222V → F in HFI; affects proper folding. 1 Publication1
    Natural variantiVAR_020827229L → P in HFI; affects proper folding. 1 Publication1
    Natural variantiVAR_000555257L → P in HFI; Italy. 3 PublicationsCorresponds to variant dbSNP:rs764701775Ensembl.1
    Natural variantiVAR_058212284L → P in HFI. 1 Publication1
    Natural variantiVAR_020828304R → Q in HFI; 100-fold decrease in catalytic efficiency for substrates FBP and F1P. 1 PublicationCorresponds to variant dbSNP:rs145078268EnsemblClinVar.1
    Natural variantiVAR_000556304R → W in HFI; Turkey; 4800-fold decrease in catalytic efficiency for FBP and inactive with F1P. 2 PublicationsCorresponds to variant dbSNP:rs555935217Ensembl.1
    Natural variantiVAR_000557335N → K in HFI; frequent mutation. 5 PublicationsCorresponds to variant dbSNP:rs78340951EnsemblClinVar.1
    Natural variantiVAR_000558338A → V in HFI; Turkey and South Europe. 2 PublicationsCorresponds to variant dbSNP:rs77718928EnsemblClinVar.1
    Natural variantiVAR_075349343Y → H in HFI; almost no effect on enzymatic activity at 30 degrees Celsius, but reduced activity at higher temperatures. 1 PublicationCorresponds to variant dbSNP:rs369586696EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi229
    MalaCardsiALDOB
    MIMi229600 phenotype
    OpenTargetsiENSG00000136872
    Orphaneti469 Hereditary fructose intolerance
    PharmGKBiPA24710

    Chemistry databases

    DrugBankiDB02515 3-Phosphoglycerol

    Polymorphism and mutation databases

    BioMutaiALDOB
    DMDMi113611

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Initiator methionineiRemovedBy similarity1 Publication
    ChainiPRO_00002169402 – 364Fructose-bisphosphate aldolase BAdd BLAST363

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei2N-acetylalanineBy similarity1
    Modified residuei13N6-succinyllysineBy similarity1
    Modified residuei36PhosphoserineCombined sources1
    Modified residuei39PhosphothreonineCombined sources1
    Modified residuei89PhosphoserineCombined sources1
    Modified residuei119PhosphothreonineCombined sources1
    Modified residuei121N6-succinyllysineBy similarity1
    Modified residuei132PhosphoserineCombined sources1
    Modified residuei272PhosphoserineCombined sources1
    Modified residuei276PhosphoserineCombined sources1
    Modified residuei299PhosphoserineBy similarity1
    Modified residuei301PhosphoserineBy similarity1
    Modified residuei309PhosphoserineCombined sources1
    Modified residuei317N6-succinyllysineBy similarity1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    EPDiP05062
    MaxQBiP05062
    PaxDbiP05062
    PeptideAtlasiP05062
    PRIDEiP05062
    ProteomicsDBi51773

    PTM databases

    iPTMnetiP05062
    PhosphoSitePlusiP05062

    Expressioni

    Gene expression databases

    BgeeiENSG00000136872 Expressed in 171 organ(s), highest expression level in jejunal mucosa
    CleanExiHS_ALDOB
    ExpressionAtlasiP05062 baseline and differential
    GenevisibleiP05062 HS

    Organism-specific databases

    HPAiCAB020827
    HPA002198

    Interactioni

    Subunit structurei

    Homotetramer. Interacts with BBS1, BBS2, BBS4 and BBS7.1 Publication

    Binary interactionsi

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi106730, 16 interactors
    IntActiP05062, 28 interactors
    MINTiP05062
    STRINGi9606.ENSP00000363988

    Structurei

    Secondary structure

    1364
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliP05062
    SMRiP05062
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP05062

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiKOG1557 Eukaryota
    COG3588 LUCA
    GeneTreeiENSGT00390000010235
    HOGENOMiHOG000220876
    HOVERGENiHBG002386
    InParanoidiP05062
    KOiK01623
    OMAiPLCKPWA
    OrthoDBiEOG091G0A9T
    PhylomeDBiP05062
    TreeFamiTF314203

    Family and domain databases

    Gene3Di3.20.20.70, 1 hit
    InterProiView protein in InterPro
    IPR029768 Aldolase_I_AS
    IPR013785 Aldolase_TIM
    IPR000741 FBA_I
    PfamiView protein in Pfam
    PF00274 Glycolytic, 1 hit
    PROSITEiView protein in PROSITE
    PS00158 ALDOLASE_CLASS_I, 1 hit

    Sequence (1+)i

    Sequence statusi: Complete.

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

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

    P05062-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE
    60 70 80 90 100
    NTEENRRQFR EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE
    110 120 130 140 150
    KGIVVGIKLD QGGAPLAGTN KETTIQGLDG LSERCAQYKK DGVDFGKWRA
    160 170 180 190 200
    VLRIADQCPS SLAIQENANA LARYASICQQ NGLVPIVEPE VIPDGDHDLE
    210 220 230 240 250
    HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC TKKYTPEQVA
    260 270 280 290 300
    MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF
    310 320 330 340 350
    SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMANCQAAK GQYVHTGSSG
    360
    AASTQSLFTA CYTY
    Length:364
    Mass (Da):39,473
    Last modified:January 23, 2007 - v2
    Checksum:iDCE314E7AC5586CA
    GO

    Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    A0A087WXX2A0A087WXX2_HUMAN
    Fructose-bisphosphate aldolase
    ALDOB
    316Annotation score:

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti54E → D in AAA51691 (PubMed:3016456).Curated1
    Sequence conflicti250A → D in CAA25072 (PubMed:6689266).Curated1
    Sequence conflicti278E → D in BAA00125 (PubMed:2830249).Curated1
    Sequence conflicti309S → V no nucleotide entry (PubMed:6585824).Curated1
    Sequence conflicti348S → C in BAA00125 (PubMed:2830249).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07534846R → W in HFI; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs41281039EnsemblClinVar.1
    Natural variantiVAR_02082274I → T in HFI; affects proper folding. 1 PublicationCorresponds to variant dbSNP:rs781023784EnsemblClinVar.1
    Natural variantiVAR_020823120 – 121Missing in HFI. 1 Publication2
    Natural variantiVAR_038429134R → S. Corresponds to variant dbSNP:rs10123355Ensembl.1
    Natural variantiVAR_000551135C → R in HFI; America; partial activity. 1 Publication1
    Natural variantiVAR_000552148W → R in one subject with fructose intolerance; rare variant; America. 1 PublicationCorresponds to variant dbSNP:rs118204430EnsemblClinVar.1
    Natural variantiVAR_000553150A → P in HFI; frequent mutation. 6 PublicationsCorresponds to variant dbSNP:rs1800546EnsemblClinVar.1
    Natural variantiVAR_000554175A → D in HFI; frequent mutation. 6 PublicationsCorresponds to variant dbSNP:rs76917243EnsemblClinVar.1
    Natural variantiVAR_058211178C → R in HFI. 1 Publication1
    Natural variantiVAR_020824185P → R in HFI. 1 Publication1
    Natural variantiVAR_020825207E → Q. Corresponds to variant dbSNP:rs3739721EnsemblClinVar.1
    Natural variantiVAR_020826222V → F in HFI; affects proper folding. 1 Publication1
    Natural variantiVAR_020827229L → P in HFI; affects proper folding. 1 Publication1
    Natural variantiVAR_000555257L → P in HFI; Italy. 3 PublicationsCorresponds to variant dbSNP:rs764701775Ensembl.1
    Natural variantiVAR_038430268I → N. Corresponds to variant dbSNP:rs10989495Ensembl.1
    Natural variantiVAR_058212284L → P in HFI. 1 Publication1
    Natural variantiVAR_020828304R → Q in HFI; 100-fold decrease in catalytic efficiency for substrates FBP and F1P. 1 PublicationCorresponds to variant dbSNP:rs145078268EnsemblClinVar.1
    Natural variantiVAR_000556304R → W in HFI; Turkey; 4800-fold decrease in catalytic efficiency for FBP and inactive with F1P. 2 PublicationsCorresponds to variant dbSNP:rs555935217Ensembl.1
    Natural variantiVAR_000557335N → K in HFI; frequent mutation. 5 PublicationsCorresponds to variant dbSNP:rs78340951EnsemblClinVar.1
    Natural variantiVAR_000558338A → V in HFI; Turkey and South Europe. 2 PublicationsCorresponds to variant dbSNP:rs77718928EnsemblClinVar.1
    Natural variantiVAR_075349343Y → H in HFI; almost no effect on enzymatic activity at 30 degrees Celsius, but reduced activity at higher temperatures. 1 PublicationCorresponds to variant dbSNP:rs369586696EnsemblClinVar.1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    X02747 mRNA Translation: CAA26526.1
    D00183 Genomic DNA Translation: BAA00125.1
    M15656, M15657 Genomic DNA Translation: AAA51691.1
    AL353621 Genomic DNA No translation available.
    CH471105 Genomic DNA Translation: EAW58951.1
    X00270 mRNA Translation: CAA25072.1
    X01098 mRNA Translation: CAA25572.1
    CCDSiCCDS6756.1
    PIRiA41505 ADHUB
    RefSeqiNP_000026.2, NM_000035.3
    UniGeneiHs.530274

    Genome annotation databases

    EnsembliENST00000374855; ENSP00000363988; ENSG00000136872
    GeneIDi229
    KEGGihsa:229
    UCSCiuc004bbk.3 human

    Keywords - Coding sequence diversityi

    Polymorphism

    Similar proteinsi

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    X02747 mRNA Translation: CAA26526.1
    D00183 Genomic DNA Translation: BAA00125.1
    M15656, M15657 Genomic DNA Translation: AAA51691.1
    AL353621 Genomic DNA No translation available.
    CH471105 Genomic DNA Translation: EAW58951.1
    X00270 mRNA Translation: CAA25072.1
    X01098 mRNA Translation: CAA25572.1
    CCDSiCCDS6756.1
    PIRiA41505 ADHUB
    RefSeqiNP_000026.2, NM_000035.3
    UniGeneiHs.530274

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1QO5X-ray2.50A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R2-364[»]
    1XDLX-ray3.00A/B/C/D/W/X/Y/Z2-364[»]
    1XDMX-ray3.00A/B/C/D/W/X/Y/Z2-364[»]
    ProteinModelPortaliP05062
    SMRiP05062
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi106730, 16 interactors
    IntActiP05062, 28 interactors
    MINTiP05062
    STRINGi9606.ENSP00000363988

    Chemistry databases

    DrugBankiDB02515 3-Phosphoglycerol

    Protein family/group databases

    MoonDBiP05062 Curated

    PTM databases

    iPTMnetiP05062
    PhosphoSitePlusiP05062

    Polymorphism and mutation databases

    BioMutaiALDOB
    DMDMi113611

    Proteomic databases

    EPDiP05062
    MaxQBiP05062
    PaxDbiP05062
    PeptideAtlasiP05062
    PRIDEiP05062
    ProteomicsDBi51773

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000374855; ENSP00000363988; ENSG00000136872
    GeneIDi229
    KEGGihsa:229
    UCSCiuc004bbk.3 human

    Organism-specific databases

    CTDi229
    DisGeNETi229
    EuPathDBiHostDB:ENSG00000136872.17
    GeneCardsiALDOB
    H-InvDBiHIX0125611
    HGNCiHGNC:417 ALDOB
    HPAiCAB020827
    HPA002198
    MalaCardsiALDOB
    MIMi229600 phenotype
    612724 gene
    neXtProtiNX_P05062
    OpenTargetsiENSG00000136872
    Orphaneti469 Hereditary fructose intolerance
    PharmGKBiPA24710
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG1557 Eukaryota
    COG3588 LUCA
    GeneTreeiENSGT00390000010235
    HOGENOMiHOG000220876
    HOVERGENiHBG002386
    InParanoidiP05062
    KOiK01623
    OMAiPLCKPWA
    OrthoDBiEOG091G0A9T
    PhylomeDBiP05062
    TreeFamiTF314203

    Enzyme and pathway databases

    UniPathwayi
    UPA00109;UER00183

    BioCyciMetaCyc:HS06234-MONOMER
    BRENDAi4.1.2.13 2681
    ReactomeiR-HSA-5657560 Hereditary fructose intolerance
    R-HSA-70171 Glycolysis
    R-HSA-70263 Gluconeogenesis
    R-HSA-70350 Fructose catabolism
    SABIO-RKiP05062
    SIGNORiP05062

    Miscellaneous databases

    ChiTaRSiALDOB human
    EvolutionaryTraceiP05062
    GeneWikiiAldolase_B
    GenomeRNAii229
    PROiPR:P05062
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000136872 Expressed in 171 organ(s), highest expression level in jejunal mucosa
    CleanExiHS_ALDOB
    ExpressionAtlasiP05062 baseline and differential
    GenevisibleiP05062 HS

    Family and domain databases

    Gene3Di3.20.20.70, 1 hit
    InterProiView protein in InterPro
    IPR029768 Aldolase_I_AS
    IPR013785 Aldolase_TIM
    IPR000741 FBA_I
    PfamiView protein in Pfam
    PF00274 Glycolytic, 1 hit
    PROSITEiView protein in PROSITE
    PS00158 ALDOLASE_CLASS_I, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiALDOB_HUMAN
    AccessioniPrimary (citable) accession number: P05062
    Secondary accession number(s): Q13741, Q13742, Q5T7D6
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
    Last sequence update: January 23, 2007
    Last modified: September 12, 2018
    This is version 204 of the entry and version 2 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 entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
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