ELFN1 - extracellular leucine rich repeat and fibronectin type III domain containing 1 Gene

Also Known as PPP1R28

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 392617

About ELFN1

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:1,666,064-1,747,946 (from NCBI)

This gene has 4 transcripts (splice variants), 247 orthologues, 22 paralogues and is associated with 1 phenotype. Broad expression in liver (RPKM 1.3), kidney (RPKM 0.9) and 14 other tissues.

Summary

Predicted to enable protein Phosphatase Inhibitor activity. Predicted to be involved in synapse organization. Predicted to be located in dendrite and excitatory synapse. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

ELFN1 Products (3)

mRNA Protein Name
NM_001128636.4 NP_001122108.1 protein ELFN1 precursor
NM_001394187.1 NP_001381116.1 protein ELFN1 precursor
NM_001394188.1 NP_001381117.1 protein ELFN1 precursor

ELFN1 Protein Structure

LRR_8

LRR_8: Leucine rich repeat (109 - 168)

  • 0
  • 200
  • 400
  • 600
  • 828 a.a.
Protein Preferred Names Protein Names

protein ELFN1

  • extracellular leucine-rich repeat and fibronectin type III containing 1

関連疾患

Diseases Alias
Congenital Stationary Night Blindness
  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital

Attention Deficit-Hyperactivity Disorder
  • Attention Deficit Hyperactivity Disorder

  • ADHD

  • Attention Deficit Disorder

  • Attention Deficit-Hyperactivity Disorder, Susceptibility To

  • Attention Deficit Disorder With Hyperactivity

  • Hyperkinetic Disorder

  • Hyperactivity Of Childhood

  • Attention-Deficit/Hyperactivity Disorder

  • Add

  • Addh

  • Attention Deficit

  • Attention Deficit Disorder Of Childhood With Hyperactivity

  • Attention Deficit Disorder With Hyperactivity Syndrome

  • Hyperkinetic Syndrome

  • Attention-Deficit Hyperactivity Disorder

  • Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

  • Disturbance Of Activity And Attention

  • Disorder Of Activity And Attention

  • Adhd - [Attention Deficit Hyperactivity Disorder]

  • Hyperkinetic Disorders

  • Disorder Of Activity And Attention With Hyperkinesia

  • Attention Deficit Syndrome With Hyperactivity

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

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

生物種 Symbol 由来 ID
Rattus norvegicus ELFN1 RGD RGD:1308787
Macaca mulatta ELFN1 VGNC VGNC:72204
Bos taurus ELFN1 VGNC VGNC:28431
Mus musculus ELFN1 MGD MGI:2442479
Felis catus ELFN1 VGNC VGNC:80569
Others ELFN1 NCBI