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Protein

Alpha-methylacyl-CoA racemase

Gene

AMACR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: bile acid biosynthesis

This protein is involved in the pathway bile acid biosynthesis, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway bile acid biosynthesis and in Lipid metabolism.

Pathwayi: fatty acid metabolism

This protein is involved in the pathway fatty acid metabolism, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway fatty acid metabolism and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei152NucleophileBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • alpha-methylacyl-CoA racemase activity Source: UniProtKB
  • signaling receptor binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIsomerase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS01416-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
5.1.99.4 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
R-HSA-389887 Beta-oxidation of pristanoyl-CoA
R-HSA-9033241 Peroxisomal protein import

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q9UHK6

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00199

UPA00221

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001289

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Alpha-methylacyl-CoA racemase (EC:5.1.99.4)
Alternative name(s):
2-methylacyl-CoA racemase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AMACR
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000242110.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:451 AMACR

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604489 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UHK6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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, Peroxisome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Alpha-methylacyl-CoA racemase deficiency (AMACRD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614307
Congenital bile acid synthesis defect 4 (CBAS4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:214950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010665107L → P in CBAS4; inactive enzyme. 1 PublicationCorresponds to variant dbSNP:rs121917816EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNET

More...
DisGeNETi
23600

MalaCards human disease database

More...
MalaCardsi
AMACR
MIMi214950 phenotype
614307 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000242110

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79095 Congenital bile acid synthesis defect type 4

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24757

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AMACR

Domain mapping of disease mutations (DMDM)

More...
DMDMi
313104070

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001947051 – 382Alpha-methylacyl-CoA racemaseAdd BLAST382

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei58N6-acetyllysineBy similarity1
Modified residuei87N6-acetyllysine; alternateBy similarity1
Modified residuei87N6-succinyllysine; alternateBy similarity1
Modified residuei268N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UHK6

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UHK6

PeptideAtlas

More...
PeptideAtlasi
Q9UHK6

PRoteomics IDEntifications database

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PRIDEi
Q9UHK6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84369
84370 [Q9UHK6-2]
84371 [Q9UHK6-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UHK6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UHK6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000242110 Expressed in 94 organ(s), highest expression level in adult mammalian kidney

CleanEx database of gene expression profiles

More...
CleanExi
HS_AMACR

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UHK6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UHK6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB001809
HPA019527
HPA020912

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117134, 7 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q9UHK6

STRING: functional protein association networks

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STRINGi
9606.ENSP00000371517

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9UHK6

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9UHK6

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi380 – 382Microbody targeting signal3

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3957 Eukaryota
COG1804 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157215

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000219744

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG060891

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UHK6

KEGG Orthology (KO)

More...
KOi
K01796

Identification of Orthologs from Complete Genome Data

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OMAi
YVASWLF

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0FPV

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UHK6

TreeFam database of animal gene trees

More...
TreeFami
TF314188

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.10540, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003673 CoA-Trfase_fam_III
IPR023606 CoA-Trfase_III_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02515 CoA_transf_3, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF89796 SSF89796, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RB81D6RB81_HUMAN
Alpha-methylacyl-CoA racemase
AMACR
367Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GZ45V9GZ45_HUMAN
Alpha-methylacyl-CoA racemase
AMACR
260Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYU9V9GYU9_HUMAN
Alpha-methylacyl-CoA racemase
AMACR
281Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYP4V9GYP4_HUMAN
Alpha-methylacyl-CoA racemase
AMACR
288Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti18P → R in CAB44062 (PubMed:11060344).Curated1
Sequence conflicti128A → T in ABQ59031 (PubMed:17974005).Curated1
Sequence conflicti150L → V in CAB44062 (PubMed:11060344).Curated1
Sequence conflicti183N → D in AAD10205 (Ref. 4) Curated1
Sequence conflicti257N → S in AAD10205 (Ref. 4) Curated1
Sequence conflicti327P → L in CAB44062 (PubMed:11060344).Curated1
Sequence conflicti340 – 342FKR → SKG in CAB44062 (PubMed:11060344).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0106609V → M5 PublicationsCorresponds to variant dbSNP:rs3195676EnsemblClinVar.1
Natural variantiVAR_01066152S → P in AMACRD and CBAS4; inactive enzyme. 2 PublicationsCorresponds to variant dbSNP:rs121917814EnsemblClinVar.1
Natural variantiVAR_010665107L → P in CBAS4; inactive enzyme. 1 PublicationCorresponds to variant dbSNP:rs121917816EnsemblClinVar.1
Natural variantiVAR_055616118R → Q. Corresponds to variant dbSNP:rs16892150EnsemblClinVar.1
Natural variantiVAR_010662175G → D2 PublicationsCorresponds to variant dbSNP:rs10941112EnsemblClinVar.1
Natural variantiVAR_010663201L → S4 PublicationsCorresponds to variant dbSNP:rs2287939EnsemblClinVar.1
Natural variantiVAR_055617238P → S. Corresponds to variant dbSNP:rs9282594EnsemblClinVar.1
Natural variantiVAR_055618239Q → H. Corresponds to variant dbSNP:rs34677EnsemblClinVar.1
Natural variantiVAR_055619261M → I. Corresponds to variant dbSNP:rs9282593EnsemblClinVar.1
Natural variantiVAR_055620261M → T2 PublicationsCorresponds to variant dbSNP:rs3195678EnsemblClinVar.1
Natural variantiVAR_010664277E → K4 PublicationsCorresponds to variant dbSNP:rs2278008EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_037321132 – 229VLSKI…TADGE → GRNSIFKFFSVENSEIESVG STSRTEHVGWWSTFLYDLQD SRWGIHGCWSNRTPVLRAAD QRSLIPYFNLYLQFLNISMQ NLFKVHTLLRPCYFLGQK in isoform 2. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_037323132 – 198VLSKI…FLWKT → GRNSIFKFFSVENSEIESVG STSRTEHVGWWSTFLYDLQD SRWGIHGCWSNRTPVLRAAD QRTWTKV in isoform 3. 2 PublicationsAdd BLAST67
Alternative sequenceiVSP_037324199 – 382Missing in isoform 3. 2 PublicationsAdd BLAST184
Alternative sequenceiVSP_037326230 – 382Missing in isoform 2. 1 PublicationAdd BLAST153
Alternative sequenceiVSP_044875378 – 382VKASL → AGSKFWILYPTHSNIQK in isoform 4. 1 Publication5

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS3902.1 [Q9UHK6-1]
CCDS3903.1 [Q9UHK6-4]
CCDS54836.1 [Q9UHK6-5]

NCBI Reference Sequences

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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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.508343

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000335606; ENSP00000334424; ENSG00000242110 [Q9UHK6-1]
ENST00000382072; ENSP00000371504; ENSG00000242110 [Q9UHK6-4]
ENST00000382085; ENSP00000371517; ENSG00000242110 [Q9UHK6-5]
ENST00000506639; ENSP00000427227; ENSG00000242110 [Q9UHK6-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23600

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23600

UCSC genome browser

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UCSCi
uc003jig.4 human [Q9UHK6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ9UHK6
SMRiQ9UHK6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117134, 7 interactors
ELMiQ9UHK6
STRINGi9606.ENSP00000371517

Chemistry databases

SwissLipidsiSLP:000001289

PTM databases

iPTMnetiQ9UHK6
PhosphoSitePlusiQ9UHK6

Polymorphism and mutation databases

BioMutaiAMACR
DMDMi313104070

Proteomic databases

EPDiQ9UHK6
PaxDbiQ9UHK6
PeptideAtlasiQ9UHK6
PRIDEiQ9UHK6
ProteomicsDBi84369
84370 [Q9UHK6-2]
84371 [Q9UHK6-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
23600
Structural Biology KnowledgebaseSearch...

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.4 human [Q9UHK6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23600
DisGeNETi23600
EuPathDBiHostDB:ENSG00000242110.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AMACR
HGNCiHGNC:451 AMACR
HPAiCAB001809
HPA019527
HPA020912
MalaCardsiAMACR
MIMi214950 phenotype
604489 gene
614307 phenotype
neXtProtiNX_Q9UHK6
OpenTargetsiENSG00000242110
Orphaneti79095 Congenital bile acid synthesis defect type 4
PharmGKBiPA24757

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3957 Eukaryota
COG1804 LUCA
GeneTreeiENSGT00940000157215
HOGENOMiHOG000219744
HOVERGENiHBG060891
InParanoidiQ9UHK6
KOiK01796
OMAiYVASWLF
OrthoDBiEOG091G0FPV
PhylomeDBiQ9UHK6
TreeFamiTF314188

Enzyme and pathway databases

UniPathwayi
UPA00199

UPA00221

BioCyciMetaCyc:HS01416-MONOMER
BRENDAi5.1.99.4 2681
ReactomeiR-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
R-HSA-389887 Beta-oxidation of pristanoyl-CoA
R-HSA-9033241 Peroxisomal protein import
SABIO-RKiQ9UHK6

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
AMACR human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Alpha-methylacyl-CoA_racemase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23600

Protein Ontology

More...
PROi
PR:Q9UHK6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000242110 Expressed in 94 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_AMACR
ExpressionAtlasiQ9UHK6 baseline and differential
GenevisibleiQ9UHK6 HS

Family and domain databases

Gene3Di3.40.50.10540, 1 hit
InterProiView protein in InterPro
IPR003673 CoA-Trfase_fam_III
IPR023606 CoA-Trfase_III_dom_sf
PfamiView protein in Pfam
PF02515 CoA_transf_3, 1 hit
SUPFAMiSSF89796 SSF89796, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAMACR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UHK6
Secondary accession number(s): A5YM47
, B8Y916, B8Y918, F8W9N1, O43673, Q3KT79, Q96GH1, Q9Y3Q1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 30, 2010
Last modified: December 5, 2018
This is version 163 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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