2. Gene
  3. ERLIN1 - ER lipid raft associated 1 Gene

ERLIN1 - ER lipid raft associated 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as KE04; KEO4; SPFH1; SPG62; Erlin-1; C10orf69

Gene ID: 10613 | Gene type: protein coding

About ERLIN1

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,150,094-100,186,029 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 24.9), liver (RPKM 24.8) and 25 other tissues.

Summary

The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds Cholesterol and regulates the SREBP signaling pathway, which promotes cellular Cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]

ERLIN1 Products(8)

mRNA Protein Name
NM_001100626.2 NP_001094096.1 erlin-1 isoform a
NM_001347856.2 NP_001334785.1 erlin-1 isoform b
NM_001347857.2 NP_001334786.1 erlin-1 isoform a
NM_001347858.2 NP_001334787.1 erlin-1 isoform c
NM_001347859.2 NP_001334788.1 erlin-1 isoform a
NM_001347860.2 NP_001334789.1 erlin-1 isoform a
NM_001347861.2 NP_001334790.1 erlin-1 isoform a
NM_006459.4 NP_006450.2 erlin-1 isoform a

ERLIN1 Protein Structure

Band_7

Band_7: SPFH domain / Band 7 family (27 - 209)

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

erlin-1

Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9

Related Diseases

Diseases Alias
Spastic Paraplegia 62, Autosomal Recessive

SPG62

Hereditary Spastic Paraplegia 62

Autosomal Recessive Spastic Paraplegia Type 62

Spastic Paraplegia 62

Autosomal Recessive Spastic Paraplegia 62

Paraplegia, Spastic, Type 62
Juvenile Amyotrophic Lateral Sclerosis

Jals

Juvenile Charcot Disease

Juvenile Lou Gehrig Disease

Amyotrophic Lateral Sclerosis, Juvenile
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraplegia 18, Autosomal Recessive

SPG18

Idmdc

Hereditary Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction, And Joint Contractures

Autosomal Recessive Spastic Paraplegia Type 18

Autosomal Recessive Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction And Joint Contractures

Spastic Paraplegia 18

Intellectual Disability Motor Dysfunction And Joint Contractures

Paraplegia, Spastic, Type 18
Spastic Ataxia 3
Spastic Paraplegia 45, Autosomal Recessive

SPG45

Hereditary Spastic Paraplegia 45

Autosomal Recessive Spastic Paraplegia Type 45

Autosomal Recessive Spastic Paraplegia Type 65

Spg65

Autosomal Recessive Spastic Paraplegia 45

Paraplegia, Spastic, Type 45, Autosomal Recessive
Spastic Ataxia 2
Spastic Paraplegia 80, Autosomal Dominant

SPG80

Hereditary Spastic Paraplegia 80

Spastic Paraplegia 80 Autosomal Dominant

Doid:0112341
Spastic Paraplegia 9b, Autosomal Recessive

SPG9B

Autosomal Recessive Complex Spastic Paraplegia Type 9b

Hereditary Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia Type 9b

Ar-Spg9b
Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis
Spastic Paraplegia 64, Autosomal Recessive

SPG64

Hereditary Spastic Paraplegia 64

Autosomal Recessive Spastic Paraplegia Type 64

Autosomal Recessive Spastic Paraplegia 64

Paraplegia, Spastic, Type 64, Autosomal Recessive
Spastic Paraplegia 82, Autosomal Recessive

SPG82

Hereditary Spastic Paraplegia 82

Spastic Paraplegia 82 Autosomal Recessive

Doid:0112343
Spastic Paraplegia 81, Autosomal Recessive

SPG81

Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction

Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction

Hereditary Spastic Paraplegia 81

Spastic Paraplegia 81 Autosomal Recessive

Doid:0112349
Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease
Gillespie Syndrome

GLSP

Aniridia, Cerebellar Ataxia And Mental Deficiency

Aniridia Cerebellar Ataxia Mental Deficiency

Aniridia, Cerebellar Ataxia, And Mental Retardation

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

Aniridia-Cerebellar Ataxia-Intellectual Disability

Aniridia-Cerebellar Ataxia-Mental Deficiency

Partial Aniridia-Cerebellar Ataxia-Oligophrenia

Aniridia, Cerebellar Ataxia, And Intellectual Disability
Spastic Ataxia

Spax

Ataxia, Spastic
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04501 ERLIN1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ERLIN1 RGD RGD:1307058
Macaca mulatta ERLIN1 VGNC VGNC:103813
Canis familiaris ERLIN1 VGNC VGNC:40459
Bos taurus ERLIN1 VGNC VGNC:28588
Felis catus ERLIN1 VGNC VGNC:61949
Mus musculus ERLIN1 MGD MGI:2387613