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Q9UHK6

- AMACR_HUMAN

UniProt

Q9UHK6 - AMACR_HUMAN

Protein

Alpha-methylacyl-CoA racemase

Gene

AMACR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.

    Catalytic activityi

    (2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei152 – 1521NucleophileBy similarity

    GO - Molecular functioni

    1. alpha-methylacyl-CoA racemase activity Source: UniProtKB
    2. receptor binding Source: UniProtKB

    GO - Biological processi

    1. bile acid biosynthetic process Source: Reactome
    2. bile acid metabolic process Source: UniProtKB
    3. cellular lipid metabolic process Source: Reactome
    4. fatty acid beta-oxidation using acyl-CoA oxidase Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Isomerase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01416-MONOMER.
    BRENDAi5.1.99.4. 2681.
    ReactomeiREACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
    REACT_11053. Synthesis of bile acids and bile salts via 24-hydroxycholesterol.
    REACT_17017. Beta-oxidation of pristanoyl-CoA.
    SABIO-RKQ9UHK6.
    UniPathwayiUPA00199.
    UPA00221.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alpha-methylacyl-CoA racemase (EC:5.1.99.4)
    Alternative name(s):
    2-methylacyl-CoA racemase
    Gene namesi
    Name:AMACR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:451. AMACR.

    Subcellular locationi

    Peroxisome 1 Publication. Mitochondrion 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. mitochondrion Source: UniProtKB
    3. peroxisomal matrix Source: Reactome
    4. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307]: A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti52 – 521S → P in AMACRD and CBAS4; inactive enzyme. 2 Publications
    VAR_010661
    Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]: A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti52 – 521S → P in AMACRD and CBAS4; inactive enzyme. 2 Publications
    VAR_010661
    Natural varianti107 – 1071L → P in CBAS4; inactive enzyme. 1 Publication
    VAR_010665

    Keywords - Diseasei

    Disease mutation, Intrahepatic cholestasis

    Organism-specific databases

    MIMi214950. phenotype.
    614307. phenotype.
    Orphaneti79095. Congenital bile acid synthesis defect type 4.
    PharmGKBiPA24757.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 382381Alpha-methylacyl-CoA racemasePRO_0000194705Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei58 – 581N6-acetyllysineBy similarity
    Modified residuei87 – 871N6-acetyllysine; alternateBy similarity
    Modified residuei87 – 871N6-succinyllysine; alternateBy similarity
    Modified residuei268 – 2681N6-succinyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9UHK6.
    PaxDbiQ9UHK6.
    PRIDEiQ9UHK6.

    PTM databases

    PhosphoSiteiQ9UHK6.

    Expressioni

    Gene expression databases

    BgeeiQ9UHK6.
    CleanExiHS_AMACR.
    GenevestigatoriQ9UHK6.

    Organism-specific databases

    HPAiCAB001809.
    HPA019527.
    HPA020912.

    Interactioni

    Protein-protein interaction databases

    BioGridi117134. 3 interactions.
    STRINGi9606.ENSP00000334424.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UHK6.
    SMRiQ9UHK6. Positions 3-357.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi380 – 3823Microbody targeting signal

    Sequence similaritiesi

    Belongs to the CaiB/BaiF CoA-transferase family.Curated

    Phylogenomic databases

    eggNOGiCOG1804.
    HOGENOMiHOG000219744.
    HOVERGENiHBG060891.
    KOiK01796.
    OMAiMDDWPEM.
    OrthoDBiEOG78SQJF.
    PhylomeDBiQ9UHK6.
    TreeFamiTF314188.

    Family and domain databases

    Gene3Di3.40.50.10540. 2 hits.
    InterProiIPR003673. CoA-Trfase_fam_III.
    IPR023606. CoA-Trfase_III_dom.
    [Graphical view]
    PANTHERiPTHR11837. PTHR11837. 1 hit.
    PfamiPF02515. CoA_transf_3. 1 hit.
    [Graphical view]
    SUPFAMiSSF89796. SSF89796. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UHK6-1) [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

    MALQGISVVE LSGLAPGPFC AMVLADFGAR VVRVDRPGSR YDVSRLGRGK    50
    RSLVLDLKQP RGAAVLRRLC KRSDVLLEPF RRGVMEKLQL GPEILQRENP 100
    RLIYARLSGF GQSGSFCRLA GHDINYLALS GVLSKIGRSG ENPYAPLNLL 150
    ADFAGGGLMC ALGIIMALFD RTRTGKGQVI DANMVEGTAY LSSFLWKTQK 200
    LSLWEAPRGQ NMLDGGAPFY TTYRTADGEF MAVGAIEPQF YELLIKGLGL 250
    KSDELPNQMS MDDWPEMKKK FADVFAEKTK AEWCQIFDGT DACVTPVLTF 300
    EEVVHHDHNK ERGSFITSEE QDVSPRPAPL LLNTPAIPSF KRDPFIGEHT 350
    EEILEEFGFS REEIYQLNSD KIIESNKVKA SL 382
    Length:382
    Mass (Da):42,387
    Last modified:November 30, 2010 - v2
    Checksum:iE967D3221A90BEF8
    GO
    Isoform 2 (identifier: Q9UHK6-2) [UniParc]FASTAAdd to Basket

    Also known as: IBLi

    The sequence of this isoform differs from the canonical sequence as follows:
         132-229: VLSKIGRSGE...YTTYRTADGE → GRNSIFKFFS...LRPCYFLGQK
         230-382: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:229
    Mass (Da):25,914
    Checksum:iFC361E1AC140CAF4
    GO
    Isoform 3 (identifier: Q9UHK6-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         132-198: VLSKIGRSGE...AYLSSFLWKT → GRNSIFKFFS...AADQRTWTKV
         199-382: Missing.

    Show »
    Length:198
    Mass (Da):22,183
    Checksum:i1D677621A6EBD986
    GO
    Isoform 4 (identifier: Q9UHK6-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         378-382: VKASL → AGSKFWILYPTHSNIQK

    Note: Expression is elevated in prostate cancer.

    Show »
    Length:394
    Mass (Da):43,860
    Checksum:i55B6E53900632287
    GO

    Sequence cautioni

    The sequence ACL67853.1 differs from that shown. Reason: Aberrant splicing.
    The sequence ACL67854.1 differs from that shown. Reason: Aberrant splicing.
    The sequence CAB44062.1 differs from that shown. Reason: Frameshift at positions 62, 65 and 114.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti18 – 181P → R in CAB44062. (PubMed:11060344)Curated
    Sequence conflicti128 – 1281A → T in ABQ59031. (PubMed:17974005)Curated
    Sequence conflicti150 – 1501L → V in CAB44062. (PubMed:11060344)Curated
    Sequence conflicti183 – 1831N → D in AAD10205. 1 PublicationCurated
    Sequence conflicti257 – 2571N → S in AAD10205. 1 PublicationCurated
    Sequence conflicti327 – 3271P → L in CAB44062. (PubMed:11060344)Curated
    Sequence conflicti340 – 3423FKR → SKG in CAB44062. (PubMed:11060344)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91V → M.5 Publications
    Corresponds to variant rs3195676 [ dbSNP | Ensembl ].
    VAR_010660
    Natural varianti52 – 521S → P in AMACRD and CBAS4; inactive enzyme. 2 Publications
    VAR_010661
    Natural varianti107 – 1071L → P in CBAS4; inactive enzyme. 1 Publication
    VAR_010665
    Natural varianti118 – 1181R → Q.
    Corresponds to variant rs16892150 [ dbSNP | Ensembl ].
    VAR_055616
    Natural varianti175 – 1751G → D.2 Publications
    Corresponds to variant rs10941112 [ dbSNP | Ensembl ].
    VAR_010662
    Natural varianti201 – 2011L → S.4 Publications
    Corresponds to variant rs2287939 [ dbSNP | Ensembl ].
    VAR_010663
    Natural varianti238 – 2381P → S.
    Corresponds to variant rs9282594 [ dbSNP | Ensembl ].
    VAR_055617
    Natural varianti239 – 2391Q → H.
    Corresponds to variant rs34677 [ dbSNP | Ensembl ].
    VAR_055618
    Natural varianti261 – 2611M → I.
    Corresponds to variant rs9282593 [ dbSNP | Ensembl ].
    VAR_055619
    Natural varianti261 – 2611M → T.2 Publications
    Corresponds to variant rs3195678 [ dbSNP | Ensembl ].
    VAR_055620
    Natural varianti277 – 2771E → K.4 Publications
    Corresponds to variant rs2278008 [ dbSNP | Ensembl ].
    VAR_010664

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei132 – 22998VLSKI…TADGE → GRNSIFKFFSVENSEIESVG STSRTEHVGWWSTFLYDLQD SRWGIHGCWSNRTPVLRAAD QRSLIPYFNLYLQFLNISMQ NLFKVHTLLRPCYFLGQK in isoform 2. 1 PublicationVSP_037321Add
    BLAST
    Alternative sequencei132 – 19867VLSKI…FLWKT → GRNSIFKFFSVENSEIESVG STSRTEHVGWWSTFLYDLQD SRWGIHGCWSNRTPVLRAAD QRTWTKV in isoform 3. 2 PublicationsVSP_037323Add
    BLAST
    Alternative sequencei199 – 382184Missing in isoform 3. 2 PublicationsVSP_037324Add
    BLAST
    Alternative sequencei230 – 382153Missing in isoform 2. 1 PublicationVSP_037326Add
    BLAST
    Alternative sequencei378 – 3825VKASL → AGSKFWILYPTHSNIQK in isoform 4. 1 PublicationVSP_044875

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ130733 mRNA. Translation: CAB44062.1. Frameshift.
    AF158378 mRNA. Translation: AAF22610.1.
    AY935981 mRNA. Translation: AAY16192.1.
    AF047020 mRNA. Translation: AAD10205.1.
    FJ498906 mRNA. Translation: ACL67853.1. Sequence problems.
    FJ498907 mRNA. Translation: ACL67854.1. Sequence problems.
    FJ498908 mRNA. Translation: ACL67855.1.
    BT007193 mRNA. Translation: AAP35857.1.
    EF560721 mRNA. Translation: ABQ59031.1.
    AC139783 Genomic DNA. No translation available.
    CH471118 Genomic DNA. Translation: EAX10816.1.
    BC009471 mRNA. Translation: AAH09471.1.
    CCDSiCCDS3902.1. [Q9UHK6-1]
    CCDS3903.1. [Q9UHK6-4]
    CCDS54836.1. [Q9UHK6-5]
    RefSeqiNP_001161067.1. NM_001167595.1. [Q9UHK6-5]
    NP_055139.4. NM_014324.5. [Q9UHK6-1]
    NP_976316.1. NM_203382.2. [Q9UHK6-4]
    UniGeneiHs.508343.

    Genome annotation databases

    EnsembliENST00000335606; ENSP00000334424; ENSG00000242110. [Q9UHK6-1]
    ENST00000382072; ENSP00000371504; ENSG00000242110. [Q9UHK6-4]
    ENST00000382085; ENSP00000371517; ENSG00000242110. [Q9UHK6-5]
    ENST00000506639; ENSP00000427227; ENSG00000242110. [Q9UHK6-2]
    GeneIDi23600.
    KEGGihsa:23600.
    UCSCiuc003jig.3. human. [Q9UHK6-1]
    uc003jih.3. human. [Q9UHK6-4]

    Polymorphism databases

    DMDMi313104070.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ130733 mRNA. Translation: CAB44062.1 . Frameshift.
    AF158378 mRNA. Translation: AAF22610.1 .
    AY935981 mRNA. Translation: AAY16192.1 .
    AF047020 mRNA. Translation: AAD10205.1 .
    FJ498906 mRNA. Translation: ACL67853.1 . Sequence problems.
    FJ498907 mRNA. Translation: ACL67854.1 . Sequence problems.
    FJ498908 mRNA. Translation: ACL67855.1 .
    BT007193 mRNA. Translation: AAP35857.1 .
    EF560721 mRNA. Translation: ABQ59031.1 .
    AC139783 Genomic DNA. No translation available.
    CH471118 Genomic DNA. Translation: EAX10816.1 .
    BC009471 mRNA. Translation: AAH09471.1 .
    CCDSi CCDS3902.1. [Q9UHK6-1 ]
    CCDS3903.1. [Q9UHK6-4 ]
    CCDS54836.1. [Q9UHK6-5 ]
    RefSeqi NP_001161067.1. NM_001167595.1. [Q9UHK6-5 ]
    NP_055139.4. NM_014324.5. [Q9UHK6-1 ]
    NP_976316.1. NM_203382.2. [Q9UHK6-4 ]
    UniGenei Hs.508343.

    3D structure databases

    ProteinModelPortali Q9UHK6.
    SMRi Q9UHK6. Positions 3-357.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117134. 3 interactions.
    STRINGi 9606.ENSP00000334424.

    PTM databases

    PhosphoSitei Q9UHK6.

    Polymorphism databases

    DMDMi 313104070.

    Proteomic databases

    MaxQBi Q9UHK6.
    PaxDbi Q9UHK6.
    PRIDEi Q9UHK6.

    Protocols and materials databases

    DNASUi 23600.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000335606 ; ENSP00000334424 ; ENSG00000242110 . [Q9UHK6-1 ]
    ENST00000382072 ; ENSP00000371504 ; ENSG00000242110 . [Q9UHK6-4 ]
    ENST00000382085 ; ENSP00000371517 ; ENSG00000242110 . [Q9UHK6-5 ]
    ENST00000506639 ; ENSP00000427227 ; ENSG00000242110 . [Q9UHK6-2 ]
    GeneIDi 23600.
    KEGGi hsa:23600.
    UCSCi uc003jig.3. human. [Q9UHK6-1 ]
    uc003jih.3. human. [Q9UHK6-4 ]

    Organism-specific databases

    CTDi 23600.
    GeneCardsi GC05M033986.
    HGNCi HGNC:451. AMACR.
    HPAi CAB001809.
    HPA019527.
    HPA020912.
    MIMi 214950. phenotype.
    604489. gene.
    614307. phenotype.
    neXtProti NX_Q9UHK6.
    Orphaneti 79095. Congenital bile acid synthesis defect type 4.
    PharmGKBi PA24757.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1804.
    HOGENOMi HOG000219744.
    HOVERGENi HBG060891.
    KOi K01796.
    OMAi MDDWPEM.
    OrthoDBi EOG78SQJF.
    PhylomeDBi Q9UHK6.
    TreeFami TF314188.

    Enzyme and pathway databases

    UniPathwayi UPA00199 .
    UPA00221 .
    BioCyci MetaCyc:HS01416-MONOMER.
    BRENDAi 5.1.99.4. 2681.
    Reactomei REACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
    REACT_11053. Synthesis of bile acids and bile salts via 24-hydroxycholesterol.
    REACT_17017. Beta-oxidation of pristanoyl-CoA.
    SABIO-RK Q9UHK6.

    Miscellaneous databases

    GeneWikii Alpha-methylacyl-CoA_racemase.
    GenomeRNAii 23600.
    NextBioi 46278.
    PROi Q9UHK6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UHK6.
    CleanExi HS_AMACR.
    Genevestigatori Q9UHK6.

    Family and domain databases

    Gene3Di 3.40.50.10540. 2 hits.
    InterProi IPR003673. CoA-Trfase_fam_III.
    IPR023606. CoA-Trfase_III_dom.
    [Graphical view ]
    PANTHERi PTHR11837. PTHR11837. 1 hit.
    Pfami PF02515. CoA_transf_3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF89796. SSF89796. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Mitochondrial and peroxisomal targeting of 2-methylacyl-CoA racemase in humans."
      Amery L., Fransen M., De Nys K., Mannaerts G.P., Van Veldhoven P.P.
      J. Lipid Res. 41:1752-1759(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASP-175; SER-201; THR-261 AND LYS-277, SUBCELLULAR LOCATION, MICROBODY TARGETING.
    2. "Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy."
      Ferdinandusse S., Denis S., Clayton P.T., Graham A., Rees J.E., Allen J.T., McLean B.N., Brown A.Y., Vreken P., Waterham H.R., Wanders R.J.A.
      Nat. Genet. 24:188-191(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT AMACRD PRO-52, VARIANT CBAS4 PRO-107, VARIANTS SER-201 AND LYS-277, CHARACTERIZATION OF VARIANT AMACRD PRO-52, CHARACTERIZATION OF VARIANT CBAS4 PRO-107.
    3. "A variant of the alpha-methyl-acyl-CoA racemase gene created by a deletion in exon 5 and its expression in prostate cancer."
      Mubiru J.N., Valente A.J., Troyer D.A.
      Prostate 65:117-123(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANTS SER-201 AND LYS-277.
      Tissue: Prostate cancer.
    4. "Human alpha-methylacyl-CoA racemase cDNA sequence."
      Albers C., Schmitz W., Conzelmann E.
      Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MET-9; ASP-175; SER-201; THR-261 AND LYS-277.
    5. "Expression of alpha-methylacyl-CoA racemase spliced variants in normal and malignant prostate tissue."
      Ouyang B., Leung Y.-K., Wang V., Chung E., Levin L., Bracken B., Cheng L., Ho S.-M.
      Submitted (NOV-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT MET-9.
    6. "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] (ISOFORM 3), VARIANT MET-9.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Salivary gland.
    8. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT MET-9.
    10. "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 3), VARIANT MET-9.
      Tissue: Kidney.
    11. "Purification and characterization of an alpha-methylacyl-CoA racemase from human liver."
      Schmitz W., Albers C., Fingerhut R., Conzelmann E.
      Eur. J. Biochem. 231:815-822(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
      Tissue: Liver.
    12. "Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy."
      Setchell K.D.R., Heubi J.E., Bove K.E., O'Connell N.C., Brewsaugh T., Steinberg S.J., Moser A., Squires R.H. Jr.
      Gastroenterology 124:217-232(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CBAS4 PRO-52.

    Entry informationi

    Entry nameiAMACR_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHK6
    Secondary accession number(s): A5YM47
    , B8Y916, B8Y918, F8W9N1, O43673, Q3KT79, Q96GH1, Q9Y3Q1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 131 of the entry and version 2 of the sequence. [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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3