MTX1 (metaxin 1)

Gene

• Entrez ID: 4580
• Gene name: Metaxin 1
• Gene symbol: MTX1
• Synonyms (NCBI Gene): MTX, MTXN
• Chromosome: 1
• Chromosome location: 1q22

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002819	hsa-miR-1-3p	pSILAC	18668040
MIRT002819	hsa-miR-1-3p	Microarray	15685193
MIRT002819	hsa-miR-1-3p	Proteomics	18668040
MIRT002819	hsa-miR-1-3p	Microarray	15685193
MIRT029412	hsa-miR-26b-5p	Microarray	19088304
MIRT1165785	hsa-miR-1	CLIP-seq
MIRT1165786	hsa-miR-1293	CLIP-seq
MIRT1165787	hsa-miR-1299	CLIP-seq
MIRT1165788	hsa-miR-151-5p	CLIP-seq
MIRT1165789	hsa-miR-151b	CLIP-seq
MIRT1165790	hsa-miR-206	CLIP-seq
MIRT1165791	hsa-miR-3065-3p	CLIP-seq
MIRT1165792	hsa-miR-3119	CLIP-seq
MIRT1165793	hsa-miR-3612	CLIP-seq
MIRT1165794	hsa-miR-3622a-5p	CLIP-seq
MIRT1165795	hsa-miR-3673	CLIP-seq
MIRT1165796	hsa-miR-4302	CLIP-seq
MIRT1165797	hsa-miR-4314	CLIP-seq
MIRT1165798	hsa-miR-4481	CLIP-seq
MIRT1165799	hsa-miR-4483	CLIP-seq
MIRT1165800	hsa-miR-4669	CLIP-seq
MIRT1165801	hsa-miR-4693-3p	CLIP-seq
MIRT1165802	hsa-miR-4695-5p	CLIP-seq
MIRT1165803	hsa-miR-4697-3p	CLIP-seq
MIRT1165804	hsa-miR-4712-3p	CLIP-seq
MIRT1165805	hsa-miR-4718	CLIP-seq
MIRT1165806	hsa-miR-4745-5p	CLIP-seq
MIRT1165807	hsa-miR-4757-5p	CLIP-seq
MIRT1165808	hsa-miR-4758-5p	CLIP-seq
MIRT1165809	hsa-miR-4778-5p	CLIP-seq
MIRT1165810	hsa-miR-564	CLIP-seq
MIRT1165811	hsa-miR-613	CLIP-seq
MIRT1165812	hsa-miR-650	CLIP-seq
MIRT1165813	hsa-miR-875-3p	CLIP-seq
MIRT1165814	hsa-miR-885-3p	CLIP-seq
MIRT1165785	hsa-miR-1	CLIP-seq
MIRT1165786	hsa-miR-1293	CLIP-seq
MIRT1165787	hsa-miR-1299	CLIP-seq
MIRT1165790	hsa-miR-206	CLIP-seq
MIRT1165791	hsa-miR-3065-3p	CLIP-seq
MIRT1165792	hsa-miR-3119	CLIP-seq
MIRT1165793	hsa-miR-3612	CLIP-seq
MIRT1165794	hsa-miR-3622a-5p	CLIP-seq
MIRT1165795	hsa-miR-3673	CLIP-seq
MIRT1165797	hsa-miR-4314	CLIP-seq
MIRT1165799	hsa-miR-4483	CLIP-seq
MIRT1165802	hsa-miR-4695-5p	CLIP-seq
MIRT1165807	hsa-miR-4757-5p	CLIP-seq
MIRT1165809	hsa-miR-4778-5p	CLIP-seq
MIRT1165810	hsa-miR-564	CLIP-seq
MIRT1165811	hsa-miR-613	CLIP-seq
MIRT1165812	hsa-miR-650	CLIP-seq
MIRT1165813	hsa-miR-875-3p	CLIP-seq
MIRT1165814	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001401	Component	SAM complex	HDA	26477565
GO:0001401	Component	SAM complex	IBA
GO:0001401	Component	SAM complex	IEA
GO:0001401	Component	SAM complex	IPI	17510655
GO:0005515	Function	Protein binding	IPI	31644573
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	NAS	31387448
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007007	Process	Inner mitochondrial membrane organization	IC	26477565
GO:0007595	Process	Lactation	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8660965
GO:0045040	Process	Protein insertion into mitochondrial outer membrane	NAS	31387448
GO:0140275	Component	MIB complex	HDA	26477565

Other IDs

• MIM: 600605
• HGNC: 7504
• e!Ensembl: ENSG00000173171

Protein

• UniProt ID: Q13505
• Protein name: Metaxin-1 (Mitochondrial outer membrane import complex protein 1)
• Protein function: Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10568	Tom37	172 → 293	Outer mitochondrial membrane transport complex protein	Family
  PF17171	GST_C_6	323 → 386	Glutathione S-transferase, C-terminal domain	Domain

• Sequence:

  MLLGGPPRSPRSGTSPKGPWSSTGHVQFGKSPQTWPRRTRPRSPEPAAPSGVRGSTWTRR
  RDSPRRAGPTALSRYVGHLWMGRRPPSPEARGPVPRSSAASRARRSLASPGISPGPLTAT
  IGGAVAGGGPRQGRAEAHKEVFPGQRVGKMAAPMELFCWSGGWGLPSVDLDSLAVLTYAR
  FTGAPLKVHKISNPWQSPSGTLPALRTSHGEVISVPHKIITHLRKEKYNADYDLSARQGA
  DTLAFMSLLEEKLLPVLVHTFWIDTKNYVEVTRKWYAEAMPFPLNFFLPGRMQRQYMERL
  QLLTGEHRPEDEEELEKELYREARECLTLLSQRLGSQKFFFGDAPASLDAFVFSYLALLL
  QAKLPSGKLQVHLRGLHNLCAYCTHILSLYFPWDGAEVPPQRQTPAGPETEEEPYRRRNQ
  ILSVLAGLAAMVGYALLSGIVSIQRATPARAPGTRTLGMAEEDEEE

• Sequence length: 466

Pathways

KEGG:

Mitophagy - animal

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
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE GASTRIC ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	14666692, 25921280		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17371272, 21064136, 21509569, 28525903, 29672292, 30349379		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	29934145		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21064136, 28525903, 28914260, 29672292, 30349379		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	31633515		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	21644011, 31504937		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28217975, 29990875, 30544400, 30928406		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30544400, 31072400		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	31598719		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18951733		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24718721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21064136, 22074251, 24241962, 24718721, 28525903, 29672292, 30349379		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	31020694		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10347546, 15499635, 20515499		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10347546		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23946436		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15327516, 29738359, 31824157		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	30591868		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	19031955		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	29028942	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30628675		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	15024629		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	LHGDN	15024629		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30154652		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	36221101	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	29381772, 31698447		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	21399669, 31691080		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	31633515		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	12471611		★☆☆☆☆ Found in Text Mining only
Hypoproteinemia	Hypoproteinemia	BEFREE	24712521		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30888405		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	28582527, 29604189		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	30142545		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29672292		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31416331		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	21644011, 31504937		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29934145		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	31089697, 31504978		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28039412		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	18951733, 21509569, 31023238		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	16988840, 29095107		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	28165538, 28380678		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24718721		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29028942		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27987737, 29341908, 30154652, 30626714, 30888405		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10347546, 15499635, 20515499		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	34638981	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	30626714		★☆☆☆☆ Found in Text Mining only
Nance-Horan syndrome	Nance-Horan Syndrome	BEFREE	9689927		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23982423, 24935781, 27211281, 9893962		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	21644011, 31504937		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	30591868		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	31323533		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28449430, 29965827, 30349379, 30591868		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	30056523		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21837367		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	15327516, 15700834, 24488444, 28950405, 29213063, 29416652, 29624748, 30305848, 30943052, 31824157		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	18951733, 20388640, 26707913, 29355632		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	21134963, 24489016, 28165538, 28460083, 28957556, 29155973, 30189019, 31504937		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	24241962		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12233877, 15677700, 17009228, 18951733, 21134963, 24489016, 26587663, 27570220, 27752107, 27846761, 28042319, 28165538, 28217975, 28428089, 28460083, 28957556, 29155973, 29520081, 29679159, 29713747, 29746672, 29990875, 30189019, 30544400, 30602032, 30978282, 31023238, 31302692, 31490947, 31504937, 31648623, 31843461		★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	30608620		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	30602032		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	GWASCAT_DG	26098866, 31383772		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29028942		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	31323533		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	31605484		★☆☆☆☆ Found in Text Mining only