MAGEA1 (MAGE family member A1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 4100
Gene name MAGE family member A1
Gene symbol MAGEA1
Synonyms (NCBI Gene)
CT1.1MAGE1
Chromosome X
Chromosome location Xq28
Summary This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of thi
miRNA miRNA information provided by mirtarbase database.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT2265993 hsa-miR-141 CLIP-seq
MIRT2265994 hsa-miR-146a CLIP-seq
MIRT2265995 hsa-miR-146b-5p CLIP-seq
MIRT2265996 hsa-miR-200a CLIP-seq
MIRT2265997 hsa-miR-4251 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15316101
GO:0005515 Function Protein binding IPI 15316101, 16189514, 21364888, 25416956, 25910212, 27107012, 30886144, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 15316101
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300016 6796 ENSG00000198681
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43355
Protein name Melanoma-associated antigen 1 (Antigen MZ2-E) (Cancer/testis antigen 1.1) (CT1.1) (MAGE-1 antigen)
Protein function May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1. May inhibit notch intracellular domain (NICD) transactivation. May play a role in embryonal development and tumor transformatio
PDB 1W72 , 3BO8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12440 MAGE_N 5 → 89 Melanoma associated antigen family N terminal Family
PF01454 MAGE 109 → 276 MAGE family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes. Never expressed in kidney tumors, leukemias and lymph
Sequence
Sequence length 309
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (77)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 8550240
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 33088399 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 15367334 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bile duct carcinoma Bile duct carcinoma BEFREE 10873083
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 8548758
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15365776, 21495200, 26510686, 30498011 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 10868457, 11289403, 7559092, 9121149
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 15237429, 15633217, 15661935, 24002931, 32941982, 36211805 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 12133624
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 25101620 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only