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Q9UHK6

- AMACR_HUMAN

UniProt

Q9UHK6 - AMACR_HUMAN

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Protein

Alpha-methylacyl-CoA racemase

Gene

AMACR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
ExpressionAtlasiQ9UHK6. baseline.
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.
GeneTreeiENSGT00530000063418.
HOGENOMiHOG000219744.
HOVERGENiHBG060891.
InParanoidiQ9UHK6.
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

        10         20         30         40         50
MALQGISVVE LSGLAPGPFC AMVLADFGAR VVRVDRPGSR YDVSRLGRGK
60 70 80 90 100
RSLVLDLKQP RGAAVLRRLC KRSDVLLEPF RRGVMEKLQL GPEILQRENP
110 120 130 140 150
RLIYARLSGF GQSGSFCRLA GHDINYLALS GVLSKIGRSG ENPYAPLNLL
160 170 180 190 200
ADFAGGGLMC ALGIIMALFD RTRTGKGQVI DANMVEGTAY LSSFLWKTQK
210 220 230 240 250
LSLWEAPRGQ NMLDGGAPFY TTYRTADGEF MAVGAIEPQF YELLIKGLGL
260 270 280 290 300
KSDELPNQMS MDDWPEMKKK FADVFAEKTK AEWCQIFDGT DACVTPVLTF
310 320 330 340 350
EEVVHHDHNK ERGSFITSEE QDVSPRPAPL LLNTPAIPSF KRDPFIGEHT
360 370 380
EEILEEFGFS REEIYQLNSD KIIESNKVKA SL
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.
GeneTreei ENSGT00530000063418.
HOGENOMi HOG000219744.
HOVERGENi HBG060891.
InParanoidi Q9UHK6.
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.
ExpressionAtlasi Q9UHK6. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 132 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