2. Gene
  3. MAMLD1 - mastermind like domain containing 1 Gene

MAMLD1 - mastermind like domain containing 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含策划样结构域 1

种属: Homo sapiens

同用名: CG1; F18; HYSP2; CXorf6

基因 ID: 10046 | 基因类型: protein coding

关于 MAMLD1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:150,361,572-150,514,173 (from NCBI)

This gene has 11 transcripts (splice variants), 143 orthologues and is associated with 4 phenotypes. Broad expression in testis (RPKM 8.2), ovary (RPKM 6.7) and 22 other tissues.

功能概要

该基因编码含有蛋白质的类似策划者的结构域。该蛋白质可作为转录共激活因子发挥作用。该基因的突变是 2 型 X 连锁尿道下裂的原因。交替剪接导致多个转录变体。[RefSeq 提供，2010 年 4 月]

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

MAMLD1 基因产物(7)

mRNA Protein Name
NM_001177465.3 NP_001170936.1 mastermind-like domain-containing protein 1 isoform 1
NM_001177466.3 NP_001170937.1 mastermind-like domain-containing protein 1 isoform 3
NM_001400512.1 NP_001387441.1 mastermind-like domain-containing protein 1 isoform 4
NM_001400513.1 NP_001387442.1 mastermind-like domain-containing protein 1 isoform 5
NM_001400514.1 NP_001387443.1 mastermind-like domain-containing protein 1 isoform 6
NM_001400515.1 NP_001387444.1 mastermind-like domain-containing protein 1 isoform 2
NM_005491.5 NP_005482.2 mastermind-like domain-containing protein 1 isoform 2
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in male gonad development IEP
IEP: 通过表达模式推断
17848411 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
蛋白主名 其他名称

mastermind-like domain-containing protein 1

关联疾病

疾病名称 别名
Hypospadias 2, X-Linked

HYSP2

Hypospadias, Type 2, X-Linked
46,Xy Ovotesticular Disorder Of Sex Development

46,Xy Ovotesticular Dsd
Non-Syndromic Posterior Hypospadias

Hypospadias, Severe Form

Perineal, Scrotal Or Penoscrotal Hypospadias
Hypospadias

Hypospadias Familial

Familial Hypospadias
Myotubular Myopathy With Abnormal Genital Development

X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome

Xq28 Contiguous Gene Deletion Syndrome
Childhood Supratentorial Ependymoma

Paediatric Cerebral Ependymoma

Paediatric Supratentorial Ependymoblastoma

Paediatric Supratentorial Ependymoma

Pediatric Cerebral Ependymoma

Pediatric Supratentorial Ependymoblastoma

Pediatric Supratentorial Ependymoma
Androgen Insensitivity Syndrome

Androgen Resistance Syndrome

AIS

Testicular Feminization Syndrome

Androgen Receptor Deficiency

Dhtr Deficiency

Dihydrotestosterone Receptor Deficiency

Ar Deficiency

Testicular Feminization

Tfm

Androgen Insensitivity

Androgen-Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Complete Androgen Insensitivity Syndrome

Cais

Feminisation - Testicular

Goldberg - Maxwell Syndrome

Androgen Insensitivity Syndrome, Complete

Morris Syndrome

Ary

AR

Insensitivity Syndrome, Androgen

Androgen Insensitivity Nos
Fraser Syndrome 2

FRASRS2
Supratentorial Ependymoma
Rela Fusion-Positive Ependymoma

Supratentorial C11orf95-Rela Fused Ependymoma

C11orf95 Fusion-Positive Supratentorial Ependymoma
High Grade Ependymoma

Ependymal Neoplasm

Ependymal Tumors

Malignant Ependymoma

Ependymal Tumor

Anaplastic Ependymoma

Experimental Organism Malignant Ependymoma

Ependymoma Of Brain
Cerebral Ventricle Cancer

Cerebral Ventricle Neoplasms

Cerebral Ventricle Neoplasm

Intraventricular Tumor Of Brain
Astroblastoma, Mn1-Altered

Cns High-Grade Neuroepithelial Tumors With Mn1 Alteration
Supratentorial Cancer

Supratentorial Neoplasms

Brain Neoplasm, Supratentorial

Malignant Supratentorial Tumor

Cancer, Supratentorial
Cerebrum Cancer

Cerebral Cancer

Neoplasm Of Cerebrum

Tumor Of Cerebrum

Malignant Neoplasm Of Cerebrum
Tanycytic Ependymoma
Eccrine Acrospiroma

Acrospiroma

Poroma

Eccrine Hidradenoma

Eccrine Hidradenoma Of Skin

Hidradenoma

Adenoma, Sweat Gland

Benign Neoplasm Of Sweat Gland

Eccrine Poroma
Eccrine Sweat Gland Neoplasm

Eccrine Skin Neoplasm

Eccrine Tumor

Eccrine Neoplasm

Malignant Eccrine Neoplasm
Freemartinism
Astroblastoma

Cerebral Astroblastoma
Anaplastic Ependymoma

Ependymoma, Anaplastic

Undifferentiated Ependymoma
Eccrine Porocarcinoma

Porocarcinoma

Eccrine Porocarcinoma Of Skin

Malignant Eccrine Poroma
Childhood Ependymoma
Myxopapillary Ependymoma

Ependymoma Myxopapillary
Androgen Insensitivity, Partial

Partial Androgen Insensitivity Syndrome

Reifenstein Syndrome

PAIS

Androgen Insensitivity, Partial, With Or Without Breast Cancer

Familial Incomplete Male Pseudohermaphroditism, Type 1

Androgen Insensitivity Syndrome, Partial

Androgen Resistance Syndrome, Partial

Reifenstein Syndrome, Partial

Partial Androgen Resistance Syndrome

Androgen Insensitivity Partial With Or Without Breast Cancer

Androgen Insensitivity Syndrome Partial

Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome
Eccrine Sweat Gland Cancer

Malignant Eccrine Skin Neoplasm

Malignant Eccrine Tumor
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome

Preaxial Deficiency, Postaxial Polydactyly And Hypospadias

Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome

GUTTS
Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy

Xlmtm

X-Linked Centronuclear Myopathy

Xlcnm

CNMX

Mtm1

Myotubular Myopathy, X-Linked

Mtmx

Myotubular Myopathy 1

Centronuclear Myopathy X-Linked

Myotubular Myopathy

Mtm

Cnm

Xmtm

Myotubular Myopathy Type 1
Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes
Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy
Persistent Mullerian Duct Syndrome

Persistent Müllerian Duct Syndrome

Pmds

Persistent Oviduct Syndrome

Persistent Muellerian Duct Syndrome

Female Genital Ducts In Otherwise Normal Male

Hernia Uteri Inguinale

Persistent Mullerian Duct Syndrome, Types 1 And 2

Persistent Mullerian Derivatives
Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders
Myopathy

Muscular Diseases

Myopathies
46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08002 MAMLD1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus MAMLD1 MGD MGI:3045303
Bos taurus MAMLD1 VGNC VGNC:56928
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