Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23600
Gene name	Alpha-methylacyl-CoA racemase
Gene symbol	AMACR
Synonyms (NCBI Gene)	AMACRDCBAS4P504SRACERM
Chromosome	5
Chromosome location	5p13.2
Summary	This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxid

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miRTarBase ID	miRNA	Experiments	Reference
MIRT041573	hsa-miR-193b-3p	CLASH	23622248
MIRT054415	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCRWestern blot	24517338
MIRT054415	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCRWestern blot	24517338
MIRT569684	hsa-miR-1183	PAR-CLIP	20371350
MIRT569682	hsa-miR-4705	PAR-CLIP	20371350
MIRT569683	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT569681	hsa-miR-1208	PAR-CLIP	20371350
MIRT569684	hsa-miR-1183	PAR-CLIP	20371350
MIRT569682	hsa-miR-4705	PAR-CLIP	20371350
MIRT569683	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT569681	hsa-miR-1208	PAR-CLIP	20371350
MIRT569680	hsa-miR-759	PAR-CLIP	20371350
MIRT569684	hsa-miR-1183	PAR-CLIP	20371350
MIRT569682	hsa-miR-4705	PAR-CLIP	20371350
MIRT569683	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT569681	hsa-miR-1208	PAR-CLIP	20371350
MIRT569684	hsa-miR-1183	PAR-CLIP	20371350
MIRT569682	hsa-miR-4705	PAR-CLIP	20371350
MIRT569683	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT569681	hsa-miR-1208	PAR-CLIP	20371350
MIRT569680	hsa-miR-759	PAR-CLIP	20371350
MIRT779499	hsa-miR-1227	CLIP-seq
MIRT779500	hsa-miR-124	CLIP-seq
MIRT779501	hsa-miR-1915	CLIP-seq
MIRT779502	hsa-miR-4480	CLIP-seq
MIRT779503	hsa-miR-4685-5p	CLIP-seq
MIRT779504	hsa-miR-4761-3p	CLIP-seq
MIRT779505	hsa-miR-506	CLIP-seq
MIRT779506	hsa-miR-548g	CLIP-seq
MIRT779507	hsa-miR-1297	CLIP-seq
MIRT779508	hsa-miR-1972	CLIP-seq
MIRT779509	hsa-miR-224	CLIP-seq
MIRT779510	hsa-miR-26a	CLIP-seq
MIRT779511	hsa-miR-26b	CLIP-seq
MIRT779512	hsa-miR-3065-5p	CLIP-seq
MIRT779513	hsa-miR-3074-3p	CLIP-seq
MIRT779514	hsa-miR-3614-5p	CLIP-seq
MIRT779515	hsa-miR-3671	CLIP-seq
MIRT779516	hsa-miR-4272	CLIP-seq
MIRT779517	hsa-miR-4465	CLIP-seq
MIRT779518	hsa-miR-4493	CLIP-seq
MIRT779519	hsa-miR-4499	CLIP-seq
MIRT779520	hsa-miR-4517	CLIP-seq
MIRT779521	hsa-miR-4529-5p	CLIP-seq
MIRT779522	hsa-miR-4537	CLIP-seq
MIRT779523	hsa-miR-4698	CLIP-seq
MIRT779524	hsa-miR-548c-3p	CLIP-seq
MIRT779525	hsa-miR-607	CLIP-seq
MIRT779526	hsa-miR-889	CLIP-seq
MIRT779509	hsa-miR-224	CLIP-seq
MIRT1930060	hsa-miR-3591-3p	CLIP-seq
MIRT1930061	hsa-miR-4757-5p	CLIP-seq
MIRT2170868	hsa-miR-4420	CLIP-seq
MIRT2170869	hsa-miR-548a-3p	CLIP-seq
MIRT2170870	hsa-miR-548e	CLIP-seq
MIRT2170871	hsa-miR-548f	CLIP-seq
MIRT2435316	hsa-miR-1277	CLIP-seq
MIRT2435317	hsa-miR-378	CLIP-seq
MIRT2435318	hsa-miR-378b	CLIP-seq
MIRT2435319	hsa-miR-378c	CLIP-seq
MIRT2435320	hsa-miR-378d	CLIP-seq
MIRT2435321	hsa-miR-378e	CLIP-seq
MIRT2435322	hsa-miR-378f	CLIP-seq
MIRT2435323	hsa-miR-378h	CLIP-seq
MIRT2435324	hsa-miR-378i	CLIP-seq
MIRT2435325	hsa-miR-422a	CLIP-seq
MIRT2435326	hsa-miR-4638-3p	CLIP-seq
MIRT2435327	hsa-miR-642a	CLIP-seq
MIRT2435328	hsa-miR-943	CLIP-seq
MIRT2435316	hsa-miR-1277	CLIP-seq
MIRT2435317	hsa-miR-378	CLIP-seq
MIRT2435318	hsa-miR-378b	CLIP-seq
MIRT2435319	hsa-miR-378c	CLIP-seq
MIRT2435320	hsa-miR-378d	CLIP-seq
MIRT2435321	hsa-miR-378e	CLIP-seq
MIRT2435322	hsa-miR-378f	CLIP-seq
MIRT2435323	hsa-miR-378h	CLIP-seq
MIRT2435324	hsa-miR-378i	CLIP-seq
MIRT2435325	hsa-miR-422a	CLIP-seq
MIRT2435326	hsa-miR-4638-3p	CLIP-seq
MIRT2435327	hsa-miR-642a	CLIP-seq
MIRT2435328	hsa-miR-943	CLIP-seq
MIRT2443604	hsa-miR-3616-3p	CLIP-seq
MIRT2443605	hsa-miR-3662	CLIP-seq
MIRT2443606	hsa-miR-4436b-3p	CLIP-seq
MIRT2443607	hsa-miR-4468	CLIP-seq
MIRT2443608	hsa-miR-4721	CLIP-seq
MIRT2443609	hsa-miR-4802-3p	CLIP-seq

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Transcription factor	Regulation	Reference
SP1	Unknown	19148275
ZNF202	Unknown	19148275

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005102	Function	Signaling receptor binding	IPI	11060344
GO:0005737	Component	Cytoplasm	IDA	15941950
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	7649182, 11060344, 11060359, 20102405
GO:0005739	Component	Mitochondrion	IEA
GO:0005777	Component	Peroxisome	IDA	7649182, 11060344, 11060359
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	EXP	7649182
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	IBA
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	IDA	7649182, 11060359
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	IEA
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	IMP	10655068
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	TAS
GO:0008206	Process	Bile acid metabolic process	IBA
GO:0008206	Process	Bile acid metabolic process	IDA	10655068
GO:0016853	Function	Isomerase activity	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS

MIM	HGNC	e!Ensembl
604489	451	ENSG00000242110

Q9UHK6

Protein name

Alpha-methylacyl-CoA racemase (EC 5.1.99.4) (2-methylacyl-CoA racemase)

Protein function

Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters (PubMed:10655068, PubMed:11060359, PubMed:7649182). Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as subs

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02515	CoA_transf_3	3 → 350	CoA-transferase family III	Family

Sequence

MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQP
RGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLA
GHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQF
YELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAEKTKAEWCQIFDGTDACVTPVLTF
EEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFS
REEIYQLNSDKIIESNKVKASL

Sequence length

382

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Metabolic pathways Peroxisome		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Synthesis of bile acids and bile salts via 24-hydroxycholesterol Beta-oxidation of pristanoyl-CoA Peroxisomal protein import

392

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alpha-methylacyl-CoA racemase deficiency	Likely pathogenic; Pathogenic	rs121917814	RCV000005858
AMACR-related disorder	Likely pathogenic; Pathogenic	rs121917814	RCV003952344
Congenital bile acid synthesis defect 4	Likely pathogenic; Pathogenic	rs121917814, rs121917816	RCV000005859 RCV000005860

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity	rs181341030	RCV000490396
Spastic ataxia	Uncertain significance	rs1447617401	RCV001647251

Show/Hide Text Mining Associations (79)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3C syndrome	Associate	24119561
Adenocarcinoma	Associate	17922592, 18577240, 18788852
Adenocarcinoma Clear Cell	Associate	18788852
Adenoma	Associate	18788852, 20503447, 26248896
Adenoma	Inhibit	19148275
Allan Herndon Dudley syndrome	Associate	26195723
Alpha Methylacyl CoA Racemase Deficiency	Associate	23286897
Atrophy	Associate	22507319
Barrett Esophagus	Associate	18500268
Breast Carcinoma In Situ	Associate	35998819
Breast Neoplasms	Associate	35998819
Cap Myopathy	Stimulate	21195844
Cap Myopathy	Associate	25808739
Carcinogenesis	Associate	19148275
Carcinoid Tumor	Stimulate	17922592
Carcinoma Ductal	Associate	35998819
Carcinoma Hepatocellular	Stimulate	18577240
Carcinoma Hepatocellular	Associate	25092674
Carcinoma in Situ	Associate	20503447, 31419984
Carcinoma Intraductal Noninfiltrating	Stimulate	35998819
Carcinoma Lobular	Associate	35998819
Carcinoma Renal Cell	Associate	15858144, 18788852, 20812179, 22369180, 24119561, 24427344, 31361605, 33036062, 37041497
Carcinoma Small Cell	Associate	17922592
Carcinoma Squamous Cell	Stimulate	17922592
Chondrosarcoma	Associate	26888362
Chordoma	Associate	26888362
Colonic Neoplasms	Associate	15803184, 19148275
Colorectal Neoplasms	Associate	12213712, 15389251
Common Bile Duct Neoplasms	Associate	24833092
Death	Associate	25238935
Dysplastic Nevus Syndrome	Associate	25149154
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1	Associate	24119561
Epileptic Syndromes	Associate	17683075
Exfoliation Syndrome	Associate	18577240
Fibrocystic Breast Disease	Stimulate	35998819
Gastrointestinal Diseases	Associate	18788852
Gastrointestinal Stromal Tumors	Associate	25473890, 25987131
Gilbert Disease	Associate	37041497
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35998819
Hodgkin Disease	Associate	21385932
Kidney Neoplasms	Associate	15858144
Lung Neoplasms	Associate	17922592
Melanoma	Stimulate	25149154
Mesothelioma	Associate	26281327
Mesothelioma Malignant	Associate	26281327
Mouth Diseases	Stimulate	35998819
Mouth Neoplasms	Associate	18500268
Nasopharyngeal Carcinoma	Associate	24833092
Neoplasm Invasiveness	Stimulate	18577240
Neoplasm Metastasis	Associate	25092674
Neoplasm Metastasis	Stimulate	29725255
Neoplasms	Associate	12213712, 14982837, 15755877, 17222253, 18500268, 19596919, 20945498, 22417861, 24119561, 24383053, 24817979, 24833092, 25307752, 25514598, 26281327 View all (10 more)
Neoplasms	Stimulate	17922592, 18257117, 22507319, 29725255
Neoplasms	Inhibit	25092674
Neoplasms Glandular and Epithelial	Stimulate	35998819
Nevus Pigmented	Associate	25149154
Niemann Pick Disease Type C	Associate	24833092
Ovarian Neoplasms	Associate	37041497
Peroxisomal Disorders	Associate	11861706
Polyps	Associate	24152881
Prostate cancer familial	Associate	17683075
Prostatic Diseases	Associate	28508828
Prostatic Hyperplasia	Associate	24937670
Prostatic Intraepithelial Neoplasia	Associate	17222253, 22507319
Prostatic Neoplasms	Associate	12057920, 12213712, 14982837, 15205683, 15548358, 15755877, 16046710, 16916997, 17222253, 17683075, 17922592, 18257117, 18781151, 19058139, 19371911 View all (22 more)
Prostatic Neoplasms	Stimulate	19148275, 22507319
Prostatic Neoplasms Castration Resistant	Associate	19596919
Prostatitis	Associate	17222253, 17597019, 17922592, 23106591, 24937670, 25514598, 25808739, 35998819
Pyruvate Carboxylase Deficiency Disease	Associate	37642075
Retinal Dysplasia	Associate	18500268, 20503447, 39336516
Retinitis Pigmentosa	Associate	11861706
Sarcoma Alveolar Soft Part	Associate	24427344
Schizophrenia	Associate	28902459
Small Cell Lung Carcinoma	Stimulate	17922592
Squamous Cell Carcinoma of Head and Neck	Stimulate	29725255
Stomach Diseases	Associate	39336516
Stomach Neoplasms	Associate	39336516
Triple Negative Breast Neoplasms	Associate	35998819
Urologic Diseases	Associate	18788852

AMACR (alpha-methylacyl-CoA racemase)