MAGEH1 (MAGE family member H1)

Gene

• Entrez ID: 28986
• Gene name: MAGE family member H1
• Gene symbol: MAGEH1
• Synonyms (NCBI Gene): APR-1, APR1, MAGEH
• Chromosome: X
• Chromosome location: Xp11.21
• Summary: This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be i

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2035541	hsa-miR-3189-3p	CLIP-seq
MIRT2266051	hsa-miR-1184	CLIP-seq
MIRT2266052	hsa-miR-1205	CLIP-seq
MIRT2266053	hsa-miR-3158-5p	CLIP-seq
MIRT2266054	hsa-miR-4684-5p	CLIP-seq
MIRT2266055	hsa-miR-4691-5p	CLIP-seq
MIRT2266056	hsa-miR-4768-5p	CLIP-seq
MIRT2266057	hsa-miR-544	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0006915	Process	Apoptotic process	TAS	10948432

Other IDs

• MIM: 300548
• HGNC: 24092
• e!Ensembl: ENSG00000187601

Protein

• UniProt ID: Q9H213
• Protein name: Melanoma-associated antigen H1 (Apoptosis-related protein 1) (APR-1) (MAGE-H1 antigen) (Restin)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01454	MAGE	4 → 174	MAGE family	Family

• Sequence:

  MPRGRKSRRRRNARAAEENRNNRKIQASEASETPMAASVVASTPEDDLSGPEEDPSTPEE
  ASTTPEEASSTAQAQKPSVPRSNFQGTKKSLLMSILALIFIMGNSAKEALVWKVLGKLGM
  QPGRQHSIFGDPKKIVTEEFVRRGYLIYKPVPRSSPVEYEFFWGPRAHVESSKLKVMHFV
  ARVRNRCSKDWPCNYDWDSDDDAEVEAILNSGARGYSAP

• Sequence length: 219

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29348204		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25972084		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	26572808		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	10620705, 12433698, 1450414	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12433698, 1450414, 1600942, 8161933		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	1450414, 8161933		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29316827		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25972084		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26572808		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21418516		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21418516	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10049780, 25972084, 26572808		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	7914421		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	34307667	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35065254	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	25366798	Associate	★☆☆☆☆ Found in Text Mining only