Gene Gene information from NCBI Gene database.
Entrez ID 9947
Gene name MAGE family member C1
Gene symbol MAGEC1
Synonyms (NCBI Gene)
CT7CT7.1
Chromosome X
Chromosome location Xq27.2
Summary This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequenc
miRNA miRNA information provided by mirtarbase database.
11
miRTarBase ID miRNA Experiments Reference
MIRT1125697 hsa-miR-1827 CLIP-seq
MIRT1125698 hsa-miR-298 CLIP-seq
MIRT1125699 hsa-miR-3117-5p CLIP-seq
MIRT1125700 hsa-miR-3646 CLIP-seq
MIRT1125701 hsa-miR-3662 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0005515 Function Protein binding IPI 17137291
GO:0005634 Component Nucleus IBA
GO:0005737 Component Cytoplasm IDA 31429579
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300223 6812 ENSG00000155495
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60732
Protein name Melanoma-associated antigen C1 (Cancer/testis antigen 7.1) (CT7.1) (MAGE-C1 antigen)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01454 MAGE 915 1082 MAGE family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis and in tumors of a wide variety of histologic types.
Sequence
MGDKDMPTAGMPSLLQSSSESPQSCPEGEDSQSPLQIPQSSPESDDTLYPLQSPQSRSEG
EDSSDPLQRPPEGKDSQSPLQIPQSSPEGDDTQSPLQNSQSSPEGKDSLSPLEISQSPPE
GEDVQSPLQNPASSFFSSALLSIFQSSPESTQSPFEGFPQSVLQIPVSAASSSTLVSIFQ
SSPESTQSPFEGFPQSPLQIPVSRSFSSTLLSIFQSSPERTQSTFEGFAQSPLQIPVSPS
SSSTLLSLFQSFSERTQSTFEGFAQSSLQIPVSPSFSSTLVSLFQSSPERTQSTFEGFPQ
SPLQIPVSSSSSSTLLSLFQSSPERTHSTFEGFPQSLLQIPMTSSFSSTLLSIFQSSPES
AQSTFEGFPQSPLQIPGSPSFSSTLLSLFQSSPERTHSTFEGFPQSPLQIPMTSSFSSTL
LSILQSSPESAQSAFEGFPQSPLQIPVSSSFSYTLLSLFQSSPERTHSTFEGFPQSPLQI
PVSSSSSSSTLLSLFQSSPECTQSTFEGFPQSPLQIPQSPPEGENTHSPLQIVPSLPEWE
DSLSPHYFPQSPPQGEDSLSPHYFPQSPPQGEDSLSPHYFPQSPQGEDSLSPHYFPQSPP
QGEDSMSPLYFPQSPLQGEEFQSSLQSPVSICSSSTPSSLPQSFPESSQSPPEGPVQSPL
HSPQSPPEGMHSQSPLQSPESAPEGEDSLSPLQIPQSPLEGEDSLSSLHFPQSPPEWEDS
LSPLHFPQFPPQGEDFQSSLQSPVSICSSSTSLSLPQSFPESPQSPPEGPAQSPLQRPVS
SFFSYTLASLLQSSHESPQSPPEGPAQSPLQSPVSSFPSSTSSSLSQSSPVSSFPSSTSS
SLSKSSPESPLQSPVISFSSSTSLSPFSEESSSPVDEYTSSSDTLLESDSLTDSESLIES
EPLFTYTLDEKVDELARFLLLKYQVKQPITKAEMLTNVISRYTGYFPVIFRKAREFIEIL
FGISLREVDPDDSYVFVNTLDLTSEGCLSDEQGMSQNRLLILILSIIFIKGTYASEEVIW
DVLSGIGVRAGREHFAFGEPRELLTKVWVQEHYLEYREVPNSSPPRYEFLWGPRAHSEVI
KR
KVVEFLAMLKNTVPITFPSSYKDALKDVEERAQAIIDTTDDSTATESASSSVMSPSFS
SE
Sequence length 1142
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
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
Autism Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Decreased total lymphocyte count Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 17607369, 21437249 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 23923079, 26057582 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 12115486
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 25101620 Associate
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 15272278 Associate
★☆☆☆☆
Found in Text Mining only
Hereditary pancreatitis Hereditary Pancreatitis BEFREE 21810217
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 39267058 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 22294213 Associate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 21738656 Stimulate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 22411186 Associate
★☆☆☆☆
Found in Text Mining only