TMEFF1 - transmembrane protein with EGF like and two follistatin like domains 1 Gene

Also Known as TR-1; H7365; C9orf2; CT120.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8577

About TMEFF1

Cytogenetic location: 9q31.1 Genomic coordinates (GRCh38): 9:100,473,149-100,577,636 (from NCBI)

This gene has 1 transcript (splice variant), 126 orthologues and 27 paralogues. Biased expression in brain (RPKM 20.3), testis (RPKM 3.9) and 6 other tissues.

Summary

Predicted to enable signaling receptor binding activity. Predicted to be involved in animal organ morphogenesis; neuron projection development; and tissue development. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

TMEFF1 Products (1)

mRNA Protein Name
NM_003692.5 NP_003683.2 tomoregulin-1 precursor
Cellular Component GO Annotation Evidence Verweise Source
located in plasma membrane IDA
IDA: Inferred from direct assay
12743596 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

TMEFF1 Protein Structure

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (103 - 143)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (194 - 235)

  • 0
  • 100
  • 200
  • 300
  • 380 a.a.
Protein Preferred Names Protein Names

tomoregulin-1

  • cancer/testis antigen family 120, member 1

Recombinant TMEFF1 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P76684 TMEFF1/Tomoregulin-1 Protein, Human (HEK293, Fc) Q8IYR6 (S40-V330) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
  • FTDALS2

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-2

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 2

Late-Onset Retinal Degeneration
  • LORD

  • Retinal Degeneration, Late-Onset, Autosomal Dominant

  • Autosomal Dominant Late-Onset Retinal Degeneration

  • Pigmentary Retinopathy

  • Retinal Degeneration, Late-Onset

  • Retinitis Pigmentosa

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
Rattus norvegicus TMEFF1 RGD RGD:62005
Mus musculus TMEFF1 MGD MGI:1926810
Others TMEFF1 NCBI