CYP51A1 - cytochrome P450 family 51 subfamily A member 1 Gene

Also Known as LDM; CP51; CYP51; CYPL1; P450L1; P450-14DM

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1595

About CYP51A1

Cytogenetic location: 7q21.2 Genomic coordinates (GRCh38): 7:92,112,153-92,134,803 (from NCBI)

This gene has 5 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Broad expression in liver (RPKM 53.6), testis (RPKM 45.9) and 25 other tissues.

Summary

This gene encodes a member of the Cytochrome P450 superfamily of Enzymes. The Cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of Cholesterol, Steroids and Other lipids. This endoplasmic reticulum protein participates in the synthesis of Cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, Plants, and Animals, suggesting that this is one of the oldest Cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

CYP51A1 Products (2)

mRNA	Protein	Name
NM_000786.4	NP_000777.1	lanosterol 14-alpha demethylase isoform 1 precursor
NM_001146152.2	NP_001139624.1	lanosterol 14-alpha demethylase isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables heme binding	IDA IDA: Inferred from direct assay	20149798	GOA
enables sterol 14-demethylase activity	IDA IDA: Inferred from direct assay	20149798	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in steroid biosynthetic process	IDA IDA: Inferred from direct assay	20149798	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP51A1 Protein Structure

p450

0
100
200
300
400
509 a.a.

Protein Preferred Names	Protein Names
lanosterol 14-alpha demethylase	CYPLI

Related Diseases

Diseases	Alias
Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome
Chagas Disease	American Trypanosomiasis Chagas' Disease Chagas' Disease With Digestive System Involvement Chagas' Disease With Nervous System Involvement Chagas' Disease With Other Organ Involvement Infection Due To Trypanosoma Cruzi South American Trypanosomiasis Chronic Chagas Disease With Digestive System Involvement
Antley-Bixler Syndrome	Trapezoidocephaly Synostosis Syndrome Trapezoidocephaly-Synostosis Syndrome Antley Bixler Syndrome Multisynostotic Osteodysgenesis With Long Bone Fractures Osteodysgenesis, Multisynostotic With Fractures Antley-Bixler Syndrome, Autosomal Dominant Antley-Bixler Syndrome Phenotype
Fusariosis	Fusarium Infection
Tinea Pedis	Athlete'S Foot Dermatophytosis Of Foot Ringworm Of Foot Moccasin Foot
Tinea Unguium	Dermatophytosis Of Nail Onychomycosis Due To Dermatophyte Cellulitis And Abscess Cellulitis And Abscess Of Buttock Cellulitis And Abscess Of Face Cellulitis And Abscess Of Finger Cellulitis And Abscess Of Finger And Toe Cellulitis And Abscess Of Gluteal Region Cellulitis And Abscess Of Trunk Cellulitis And Abscess Of Upper Arm And Forearm Dermatophytic Onychia Dermatophytic Onychomycosis Onychomycosis Ringworm Of Nails Tinea Of Nail
Tinea Cruris	Dermatophytosis Of Groin & Perianal Area Dermatophytosis Of Groin And Perianal Area Dhobie Itch Tinea Of Perianal Region
Fungal Meningitis	Meningitis, Fungal Mycotic Meningitis
Dermatomycosis	Dermatomycoses
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Candidiasis	Systemic Candidiasis Invasive Candidiasis Disseminated Candidiasis Systemic Candida Infections Candidiasis, Invasive
Invasive Aspergillosis	Aspergillosis Invasive
Cryptococcal Meningitis	Meningitis, Cryptococcal Meningitis Cryptococcal
Dermatophytosis	Tinea Dermatophytosis, Unspecified Ringworm Infections Due To Species Of Epidermophyton, Microsporum And Trichophyton Cutaneous Mycosis Dermal Mycosis Superficial Mycosis, Unspecified Fungus Infection Of Skin Skin Mycosis Dermatitis Fungoid Fungal Dermatitis Fungal Dermatosis Mycotic Infection Of Skin
Fungal Infectious Disease	Mycoses Mycosis
Esophageal Candidiasis	Candidiasis Of The Esophagus Candida Esophagitis Candidal Esophagitis Esophageal Moniliasis Esophageal Thrush
Opportunistic Mycosis	Opportunistic Mycoses Opportunistic Systemic Mycoses
Mucormycosis	Zygomycosis Disseminated Mucormycosis Absidia Infection Absidia Mucoromycosis Cunninghamella Infection Cunninghamella Mucoromycosis Infection By Absidia Spp Infection By Rhizopus Spp Mucor Infection Mucor Mucoromycosis Infection By Mucor Spp Rhizopus Infection Rhizopus Mucoromycosis Infection By Cunninghamella Spp Phycomycosis Nos
Pulmonary Aspergilloma
Mycobacterium Tuberculosis 1	Tuberculosis Tuberculoma Tuberculosis, Susceptibility To Mycobacterium Tuberculosis, Susceptibility To, 1 Mtbs1 TB
Primary Amebic Meningoencephalitis	Pam Naegleria Fowleri Infection Meningoencephalitis Caused By Naegleria Fowleri Primary Amoebic Meningoencephalitis
Tinea Capitis	Dermatophytosis Of Scalp Scalp Ringworm Dermatophytosis Of Scalp Or Beard Tinea Capitis Due To Trichophyton Rubrum Trichophyton Rubrum Tinea Capitis
Conidiobolomycosis	Infection By Conidiobolus Rhinoentomophthoromycosis Entomophthoromycosis Conidiobolae
Granulomatous Amebic Encephalitis	Granulomatous Amoebic Encephalitis Acanthamoeba Encephalitis Acanthamoeba Granulomatous Encephalitis Granulomatous Amebic Encephalitis Due To Acanthamoeba
Eumycotic Mycetoma	Eumycetoma Maduromycosis Mycetoma Madura Foot Maduromycosis, Mycotic Mycotic Mycetoma Mycetoma Of Foot Eumycotic Maduromycosis Mycetoma Due To Fungal Infection
Trichosporonosis
Sleeping Sickness	African Trypanosomiasis African Sleeping Sickness Trypanosomiasis, Human East-African Trypanosomiasis, East African Trypanosomiasis African Trypanosomiasis, African Human African Trypanosomiasis
Blastomycosis	Gilchrist'S Disease North American Blastomycosis Blastomyces Dermatitidis Infection Blastomycotic Infection Infection By Blastomyces Dermatitidis Gilchrist Disease Chicago Disease Chicago Disease Or Disorder Blastomycosis, Unspecified Blastomyces Infection
Coccidioidomycosis	Valley Fever Primary Extrapulmonary Coccidioidomycosis Coccidioides Immitis Infection Coccidiosis Coccidioides Infection Coccidioidomycosis, Unspecified San Joaquin Fever California Disease Desert Fever Desert Rheumatism San Joaquin Valley Fever Enteric Coccidiosis Primary Pulmonary Coccidioidomycosis Acute Coccidioidomycosis Posadas Wernicke Disease
External Ear Disease	Diseases Of External Ear Preauricular Cyst Preauricular Sinus And Fistula Preauricular Sinus Or Fistula
Primary Systemic Mycosis
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD
Otitis Externa	Swimmer'S Ear Infective Otitis Externa Acute Infective Otitis Externa
Vulvovaginal Candidiasis	Candidiasis Of Vulva And Vagina Candidiasis, Vulvovaginal Candidal Vulvovaginitis Candidal: Cervix Monilial Vulvovaginitis Candidiasis Vulvovaginal
Trypanosomiasis
Cryptococcosis	Cryptococcus Neoformans Infection Torulosis Busse-Buschke'S Disease Cryptococcal Infection European Cryptococcosis Torula Infection By Cryptococcus Neoformans Cryptococcosis Infection European Blastomycosis European Blastomycotic Infection European Blastomycoses Infection Torula Histolytica Infection
Visceral Leishmaniasis	Kala-Azar Leishmaniasis, Visceral Infection By Visceral Leishmaniasis Leishmaniasis Visceral Sahib Disease Ponos Burdwan Fever Mard El Bicha Sirkari Disease Indian Visceral Leishmaniasis Dumdum Fever Visceral Leishmaniasis Due To Leishmania Donovani
Parasitic Protozoa Infectious Disease	Protozoan Infections Mastigophora Infectious Disease Sarcomastigophora Infectious Disease
Leukodystrophy	Leukodystrophies
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N7266	Obtusifoliol	Inhibitor	99.86%	Unkown
HY-116568S	Prothioconazole-d4		/	Unkown
HY-144643	CYP51/HDAC-IN-1	Inhibitor	/	Unkown
HY-149617	CYP51/PD-L1-IN-4	Inhibitor	/	Unkown
HY-156149	CYP51/PD-L1-IN-1	Inhibitor	/	Unkown
HY-156150	CYP51/PD-L1-IN-2	Inhibitor	/	Unkown
HY-156151	CYP51/PD-L1-IN-3	Inhibitor	/	Unkown
HY-RS03486	CYP51A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W714655	Becliconazole	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CYP51A1	VGNC	VGNC:50376
Felis catus	CYP51A1	VGNC	VGNC:103342
Mus musculus	CYP51A1	MGD	MGI:106040
Rattus norvegicus	CYP51A1	RGD	RGD:2481
Bos taurus	CYP51A1	VGNC	VGNC:110275
Macaca mulatta	CYP51A1	VGNC	VGNC:103628
Others	CYP51A1	NCBI