MAMLD1 - mastermind like domain containing 1 Gene

Also Known as CG1; F18; HYSP2; CXorf6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10046

About 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.

Summary

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 Products (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

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in male gonad development	IEP IEP: Inferred from expression pattern	17848411	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

Protein Preferred Names	Protein Names
mastermind-like domain-containing protein 1

Related Diseases

Diseases	Alias
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08002	MAMLD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MAMLD1	MGD	MGI:3045303
Bos taurus	MAMLD1	VGNC	VGNC:56928