1. Gene
  2. MAML3 - mastermind like transcriptional coactivator 3 Gene

MAML3 - mastermind like transcriptional coactivator 3 Gene

Homo sapiens

Also known as GDN; MAM2; CAGH3; ERDA3; MAM-2; TNRC3; mam-3

Gene ID: 55534 | Gene type: protein coding

About MAML3

Cytogenetic location: 4q31.1 Genomic coordinates (GRCh38): 4:139,716,753-140,154,184 (from NCBI)

This gene has 2 transcripts (splice variants), 210 orthologues and 2 paralogues. Ubiquitous expression in ovary (RPKM 4.8), endometrium (RPKM 4.6) and 25 other tissues.

Summary

Enables transcription coactivator activity. Involved in Notch signaling pathway and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]

MAML3 Products(1)

mRNA Protein Name
NM_018717.5 NP_061187.3 mastermind-like protein 3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
12370315 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
12370315 GOA
Biological Process GO Annotation Evidence Reference Source
involved in Notch signaling pathway IDA
IDA: Inferred from direct assay
12370315 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12370315 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
12370315 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

MAML3 Protein Structure

MamL-1

MamL-1: MamL-1 domain (68 - 126)

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  • 1138 a.a.
Protein Preferred Names Protein Names

mastermind-like protein 3

CAG repeat containing (glia-derived nexin I alpha)

MAML3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
MAML3 Q96JK9 P46531-PRO_0000007676 Homo sapiens P46531-PRO_0000007676 12370315
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Schneiderian Carcinoma

Cylindrical Cell Carcinoma

Ossifying Fibromyxoid Tumor

Ossifying Fibromyxoid Tumour

Ossifying Fibromyxoma

Lipofibromatosis-Like Neural Tumor
Adult Fibrosarcoma
Microphthalmia, Syndromic 2

Oculofaciocardiodental Syndrome

Ofcd Syndrome

MCOPS2

Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects

Syndromic Microphthalmia 2

Anop2

Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome

Maa2

Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects

Syndromic Microphthalmia Type 2

Oculo-Facio-Cardio-Dental Syndrome

Anop2, Formerly

Maa2, Formerly

Microphthalmia Syndromic 2

Oculo Facio Cardio Dental Syndrome

Microphthalmia, Syndromic, 2

Marashi-Gorlin Syndrome

Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects

Microphthalmia, Syndromic, Type 2

Persistent Generalized Lymphadenopathy

Pgl

Persistant Generalized Lymphadenopathy

Kidney Clear Cell Sarcoma

Clear Cell Sarcoma Of Kidney

Childhood Kidney Clear Cell Sarcoma

Renal Clear Cell Sarcoma

Ccsk

Clear Cell Sarcoma Of The Kidney

Spindle Cell Rhabdomyosarcoma
Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Malignant Triton Tumor

Malignant Peripheral Nerve Sheath Neoplasm With Rhabdomyosarcoma

Malignant Triton Tumour

Mpnst With Rhabdomyoblastic Differentiation

Mpnst With Rhabdomyosarcoma

Mpnst With Rhabdomyosarcomatous Differentiation

Mtt

Malignant Peripheral Nerve Sheath Tumor With Rhabdomyosarcomatous Differenciation

Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation

Endometrial Stromal Tumor

Endometrial Stromal Neoplasm

Endometrial Stromal Tumors

Spindle Cell Sarcoma

Sarcoma

Sarcoma Spindle Cell

Sarcoma, Spindle Cell

Sarcoma - Category

Endometrial Stromal Sarcoma

Ess

Endometrial Stromal Sarcoma, High Grade

Undifferentiated Endometrial Sarcoma

Stromal Sarcoma Of The Corpus Uteri

Sarcoma Endometrial Stromal

Sarcoma, Endometrial Stromal

Undifferentiated Stromal Sarcoma

Enchondromatosis, Multiple, Ollier Type

Ollier Disease

Enchondromatosis

Dyschondroplasia

Osteochondromatosis

Multiple Cartilaginous Enchondroses

Multiple Enchondromatosis

Enchondromatosis With Haemangiomata

Enchondromatosis, Multiple

Kast'S Syndrome

Ollier'S Syndrome

Enchondromatosis Multiple

ENCHOM

Maffucci Disease

Olliers Disease

Hereditary Multiple Exostoses

Chondromatosis

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MAML3 RGD RGD:1308177
Canis familiaris MAML3 VGNC VGNC:50422
Bos taurus MAML3 VGNC VGNC:53912
Mus musculus MAML3 MGD MGI:2389461
Macaca mulatta MAML3 VGNC VGNC:74298
Felis catus MAML3 VGNC VGNC:107343