country

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

ERLIN1 - ER lipid raft associated 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10613

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

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

ERLIN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ERLIN1	O75477	b2rde6_human	Homo sapiens	B2RDE6	Validated Y2H	25416956
Intra	ERLIN1	O75477	TMEM199	Homo sapiens	Q8N511	Validated Y2H	25416956
Intra	ERLIN1	O75477	TMEM199	Homo sapiens	Q8N511	Y2H Array	25416956
Intra	ERLIN1	O75477	C6orf120	Homo sapiens	Q7Z4R8	Anti Tag CoIP	33961781
Intra	ERLIN1	O75477	C6orf120	Homo sapiens	Q7Z4R8	Anti Tag CoIP	28514442
Intra	ERLIN1	O75477	FA2H	Homo sapiens	Q7L5A8	Validated Y2H	32296183
Intra	ERLIN1	O75477	RBFA	Homo sapiens	Q8N0V3	Validated Y2H	32296183
Intra	ERLIN1	O75477	AGR3	Homo sapiens	Q8TD06	Validated Y2H	32296183
Intra	ERLIN1	O75477	ERLIN2	Homo sapiens	O94905	Crosslink	30021884
Intra	ERLIN1	O75477	ERLIN2	Homo sapiens	O94905	Anti Tag CoIP	33961781
Intra	ERLIN1	O75477	BNIP2	Homo sapiens	Q12982	Validated Y2H	32296183
Intra	ERLIN1	O75477	SEC23A	Homo sapiens	Q15436	Validated Y2H	32296183
Intra	ERLIN1	O75477	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183
Intra	ERLIN1	O75477	SYVN1	Homo sapiens	Q86TM6	Anti Tag CoIP	21343306

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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