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  2. CYP51A1 - cytochrome P450 family 51 subfamily A member 1 Gene

CYP51A1 - cytochrome P450 family 51 subfamily A member 1 Gene

中文名称:细胞色素 P450 家族 51 亚家族 A 成员 1

种属: Homo sapiens

同用名: LDM; CP51; CYP51; CYPL1; P450L1; P450-14DM

基因 ID: 1595 | 基因类型: protein coding

关于 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.

功能概要

该基因编码细胞色素 P450 酶超家族的成员。细胞色素 P450 蛋白是单加氧酶,可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。这种内质网蛋白通过催化从羊毛甾醇中去除 14α-甲基参与胆固醇的合成。在所有三个真核生物门、真菌、植物和动物中都发现了同源基因,表明这是最古老的细胞色素 P450 基因之一。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2009 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables heme binding IDA
IDA: 通过直接分析推断
20149798 GOA
enables sterol 14-demethylase activity IDA
IDA: 通过直接分析推断
20149798 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in steroid biosynthetic process IDA
IDA: 通过直接分析推断
20149798 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CYP51A1 蛋白结构

p450

p450: Cytochrome P450 (71 - 498)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 509 a.a.
蛋白主名 其他名称

lanosterol 14-alpha demethylase

CYPLI

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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