MTX1 - metaxin 1 Gene

Also Known as MTX; MTXN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4580

About MTX1

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,208,695-155,213,839 (from NCBI)

This gene has 7 transcripts (splice variants), 210 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 23.1), bone marrow (RPKM 13.8) and 25 other tissues.

Summary

Predicted to be involved in mitochondrion organization. Part of MIB complex and SAM complex. [provided by Alliance of Genome Resources, Apr 2022]

MTX1 Products (2)

mRNA Protein Name
NM_002455.5 NP_002446.3 metaxin-1 isoform 1
NM_198883.3 NP_942584.2 metaxin-1 isoform 2

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
31644573 GOA
Cellular Component GO Annotation Evidence References Source
part of SAM complex IPI
IPI: Inferred from physical interaction
17510655 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

MTX1 Protein Structure

Tom37

Tom37: Outer mitochondrial membrane transport complex protein (156 - 224)

Tom37_C

Tom37_C: Tom37 C-terminal domain (244 - 313)

GST_C_2

GST_C_2: Glutathione S-transferase, C-terminal domain (319 - 364)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 466 a.a.
Protein Preferred Names Protein Names

metaxin-1

  • mitochondrial outer membrane import complex protein 1

Related Diseases

Diseases Alias
Gaucher'S Disease

  • Gaucher Disease

  • Kerasin Thesaurismosis

  • Glucocerebrosidase Deficiency

  • Glucosylceramidase Deficiency

  • Cerebroside Lipidosis Syndrome

  • Acid Beta-Glucosidase Deficiency

  • Glucosylceramide Beta-Glucosidase Deficiency

  • Acute Cerebral Gaucher Disease

  • Gaucher Splenomegaly

  • Glucocerebrosidosis

  • Glucosyl Cerebroside Lipidosis

  • Kerasin Lipoidosis

  • Lipoid Histiocytosis

  • Glocucerebrosidase Deficiency

  • Sphingolipidosis 1

  • Gaucher Syndrome

  • Gauchers Disease

  • Gd

  • Glucosylceramide Lipidosis

  • Kerasin Histiocytosis

  • Gaucher Disease, Type 1

  • Gaucher Disease, Type 2
Non-Syndromic X-Linked Intellectual Disability 1

  • Mrx1

  • Mrx18

  • Mrx78

  • X-Linked Mental Retardation 1/78

  • X-Linked Mental Retardation 18
Non-Syndromic X-Linked Intellectual Disability

  • X-Linked Non-Syndromic Intellectual Disability

  • Non-Specific X-Linked Mental Retardation

  • X-Linked Non-Specific Intellectual Disability
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08828 MTX1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22244 Mtx1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28766 Mtx1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris MTX1 VGNC VGNC:53621
Bos taurus MTX1 VGNC VGNC:55630
Mus musculus MTX1 MGD MGI:103025
Rattus norvegicus MTX1 RGD RGD:1559791
Others MTX1 NCBI