1. Gene
  2. MON1A - MON1 homolog A, secretory trafficking associated Gene

MON1A - MON1 homolog A, secretory trafficking associated Gene

Homo sapiens

Also known as SAND1

Gene ID: 84315 | Gene type: protein coding

About MON1A

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,908,873-49,929,811 (from NCBI)

This gene has 9 transcripts (splice variants), 204 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 6.4), testis (RPKM 5.1) and 25 other tissues.

Summary

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in protein secretion. Predicted to act upstream of or within cellular iron ion homeostasis and protein transport. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Apr 2022]

MON1A Products(2)

mRNA Protein Name
NM_001142501.2 NP_001135973.2 vacuolar fusion protein MON1 homolog A isoform b
NM_032355.4 NP_115731.3 vacuolar fusion protein MON1 homolog A isoform a
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
23084991 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23084991 GOA
Cellular Component GO Annotation Evidence Reference Source
part of Mon1-Ccz1 complex IDA
IDA: Inferred from direct assay
29038162 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

MON1A Protein Structure

Mon1

Mon1: Trafficking protein Mon1 (244 - 652)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 652 a.a.
Protein Preferred Names Protein Names

vacuolar fusion protein MON1 homolog A

MON1 secretory trafficking family member A

MON1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
MON1A Q86VX9 CCZ1 Homo sapiens P86791
Anti Tag CoIP
23084991
Intra
MON1A Q86VX9 CCZ1 Homo sapiens P86791
GDP/GTP Exchange
23084991
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Oculomotor Nerve Paralysis

Iii Nerve Palsy

Iiird Nerve Paralysis

Third Cranial Nerve Paralysis

Third Cranial Nerve Disease

Disorder Of Oculomotor Nerve

Oculomotor Nerve Disorder

Oculomotor Nerve Paralysis

Third Cranial Nerve Disorder

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

Orthologs Information

Species Symbol Source ID
Felis catus MON1A VGNC VGNC:63554
Canis familiaris MON1A VGNC VGNC:43313
Bos taurus MON1A VGNC VGNC:31552
Macaca mulatta MON1A VGNC VGNC:74846
Mus musculus MON1A MGD MGI:1920075
Rattus norvegicus MON1A RGD RGD:1308823