Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ERLIN1 Gene

Aliases for ERLIN1 Gene

  • ER Lipid Raft Associated 1 2 3 5
  • Band_7 23-211 Keo4 (Interim) Similar To C.Elegans Protein C42C1.9 2 3
  • Stomatin-Prohibitin-Flotillin-HflC/K Domain-Containing Protein 1 3 4
  • Endoplasmic Reticulum Lipid Raft-Associated Protein 1 3 4
  • SPFH Domain-Containing Protein 1 3 4
  • SPFH Domain Family, Member 1 2 3
  • C10orf69 3 4
  • SPFH1 3 4
  • KE04 3 4
  • KEO4 3 4
  • Chromosome 10 Open Reading Frame 69 2
  • Protein KE04 4
  • Erlin-1 3
  • SPG62 3

External Ids for ERLIN1 Gene

Previous HGNC Symbols for ERLIN1 Gene

  • C10orf69
  • SPFH1

Previous GeneCards Identifiers for ERLIN1 Gene

  • GC10M101902
  • GC10M095538
  • GC10M101909

Summaries for ERLIN1 Gene

Entrez Gene Summary for ERLIN1 Gene

  • 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]

GeneCards Summary for ERLIN1 Gene

ERLIN1 (ER Lipid Raft Associated 1) is a Protein Coding gene. Diseases associated with ERLIN1 include Spastic Paraplegia 62, Autosomal Recessive and Cystic Fibrosis. Among its related pathways are HIV Life Cycle and CDK-mediated phosphorylation and removal of Cdc6. An important paralog of this gene is ERLIN2.

UniProtKB/Swiss-Prot for ERLIN1 Gene

  • Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618).

Gene Wiki entry for ERLIN1 Gene

Additional gene information for ERLIN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERLIN1 Gene

Genomics for ERLIN1 Gene

GeneHancer (GH) Regulatory Elements for ERLIN1 Gene

Promoters and enhancers for ERLIN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I100178 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 561.7 +5.2 5163 8.7 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ERLIN1 BLOC1S2 CWF19L1 EBAG9P1 PHBP9 MRPL43 CHUK ENSG00000236308 ENSG00000272572 LOC101927300
GH10I100148 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +39.2 39180 1.7 BACH1 EBF1 CEBPG FOSL1 ZFHX2 ZNF366 NFATC1 SCRT2 ATF7 FOS BLOC1S2 ERLIN1 ENSG00000236308 CPN1 RNU6-422P CWF19L1 CHUK DNMBP SPCS2P2
GH10I100161 Enhancer 0.7 dbSUPER 16.5 +25.0 25004 3 TFE3 FOXA2 SAP130 FOXA3 HLF CEBPB CEBPG ATF2 FOXA1 NFIL3 CWF19L1 BLOC1S2 ERLIN1 ENSG00000236308 SPCS2P2
GH10I100156 Enhancer 0.7 dbSUPER 16.2 +30.0 29986 3.1 PKNOX1 INSM2 ZNF266 EBF1 BATF IRF4 BCL11B ZNF143 BCLAF1 ZNF214 CWF19L1 ENSG00000236308 EBAG9P1 PHBP9 ERLIN1 DNMBP LZTS2 CHUK LOC101927300 SLF2
GH10I100283 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.5 -98.2 -98150 5.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B E2F8 BLOC1S2 CWF19L1 EBAG9P1 RNU6-422P SLC25A28 MRPL43 LZTS2 ERLIN1 PKD2L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERLIN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERLIN1 gene promoter:

Genomic Locations for ERLIN1 Gene

Genomic Locations for ERLIN1 Gene
chr10:100,150,090-100,188,334
(GRCh38/hg38)
Size:
38,245 bases
Orientation:
Minus strand
chr10:101,909,847-101,948,091
(GRCh37/hg19)

Genomic View for ERLIN1 Gene

Genes around ERLIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERLIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERLIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERLIN1 Gene

Proteins for ERLIN1 Gene

  • Protein details for ERLIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75477-ERLN1_HUMAN
    Recommended name:
    Erlin-1
    Protein Accession:
    O75477
    Secondary Accessions:
    • B0QZ42
    • Q53HV0

    Protein attributes for ERLIN1 Gene

    Size:
    346 amino acids
    Molecular mass:
    38926 Da
    Quaternary structure:
    • Forms a heteromeric complex with ERLIN2 (PubMed:19240031). In complex with ERLIN2, interacts with RNF170 (PubMed:21610068). Interacts with AMFR and SYVN1 (PubMed:21343306).
    SequenceCaution:
    • Sequence=CAQ10515.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW49846.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ERLIN1 Gene

Post-translational modifications for ERLIN1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERLIN1 (SPFH1)
  • Abcam antibodies for ERLIN1
  • Santa Cruz Biotechnology (SCBT) Antibodies for ERLIN1

No data available for DME Specific Peptides for ERLIN1 Gene

Domains & Families for ERLIN1 Gene

Gene Families for ERLIN1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for ERLIN1 Gene

Suggested Antigen Peptide Sequences for ERLIN1 Gene

Graphical View of Domain Structure for InterPro Entry

O75477

UniProtKB/Swiss-Prot:

ERLN1_HUMAN :
  • Belongs to the band 7/mec-2 family.
Family:
  • Belongs to the band 7/mec-2 family.
genes like me logo Genes that share domains with ERLIN1: view

Function for ERLIN1 Gene

Molecular function for ERLIN1 Gene

UniProtKB/Swiss-Prot Function:
Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618).

Phenotypes From GWAS Catalog for ERLIN1 Gene

Gene Ontology (GO) - Molecular Function for ERLIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19240031
GO:0008289 lipid binding IEA --
GO:0015485 cholesterol binding IDA 24217618
GO:0031625 ubiquitin protein ligase binding IEA --
genes like me logo Genes that share ontologies with ERLIN1: view
genes like me logo Genes that share phenotypes with ERLIN1: view

Human Phenotype Ontology for ERLIN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ERLIN1 Gene

Localization for ERLIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERLIN1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERLIN1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERLIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043234 protein complex IDA 18468998
genes like me logo Genes that share ontologies with ERLIN1: view

Pathways & Interactions for ERLIN1 Gene

genes like me logo Genes that share pathways with ERLIN1: view

Pathways by source for ERLIN1 Gene

Gene Ontology (GO) - Biological Process for ERLIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
GO:0030433 ubiquitin-dependent ERAD pathway IEA,IDA 19240031
GO:0032933 SREBP signaling pathway IMP 24217618
genes like me logo Genes that share ontologies with ERLIN1: view

No data available for SIGNOR curated interactions for ERLIN1 Gene

Drugs & Compounds for ERLIN1 Gene

No Compound Related Data Available

Transcripts for ERLIN1 Gene

Unigene Clusters for ERLIN1 Gene

ER lipid raft associated 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERLIN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21a ·
SP1: -
SP2: -
SP3: - -
SP4:

ExUns: 21b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ERLIN1 Gene

GeneLoc Exon Structure for
ERLIN1
ECgene alternative splicing isoforms for
ERLIN1

Expression for ERLIN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERLIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ERLIN1 Gene

This gene is overexpressed in Liver (x5.3) and Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for ERLIN1 Gene

This gene is overexpressed in Nasal epithelium (19.9), Cervix (9.8), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ERLIN1 Gene



Protein tissue co-expression partners for ERLIN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERLIN1 Gene:

ERLIN1

SOURCE GeneReport for Unigene cluster for ERLIN1 Gene:

Hs.150087

mRNA Expression by UniProt/SwissProt for ERLIN1 Gene:

O75477-ERLN1_HUMAN
Tissue specificity: Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine.

Evidence on tissue expression from TISSUES for ERLIN1 Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Lymph node(4.2)
  • Spleen(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with ERLIN1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ERLIN1 Gene

Orthologs for ERLIN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERLIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERLIN1 33 34
  • 99.9 (n)
cow
(Bos Taurus)
Mammalia BT.28958 34
  • 95 (a)
OneToOne
ERLIN1 33
  • 94.16 (n)
dog
(Canis familiaris)
Mammalia ERLIN1 33 34
  • 93.87 (n)
rat
(Rattus norvegicus)
Mammalia Erlin1 33
  • 92.72 (n)
mouse
(Mus musculus)
Mammalia Erlin1 33 16 34
  • 91.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERLIN1 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERLIN1 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERLIN1 33 34
  • 76.28 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia erlin1 33
  • 78.78 (n)
zebrafish
(Danio rerio)
Actinopterygii erlin1 33 34
  • 75.91 (n)
worm
(Caenorhabditis elegans)
Secernentea erl-1 34
  • 63 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.5495 33
wheat
(Triticum aestivum)
Liliopsida Ta.24148 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11132 34
  • 63 (a)
OneToMany
Species where no ortholog for ERLIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ERLIN1 Gene

ENSEMBL:
Gene Tree for ERLIN1 (if available)
TreeFam:
Gene Tree for ERLIN1 (if available)

Paralogs for ERLIN1 Gene

Paralogs for ERLIN1 Gene

(2) SIMAP similar genes for ERLIN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ERLIN1: view

Variants for ERLIN1 Gene

Sequence variations from dbSNP and Humsavar for ERLIN1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs763392279 uncertain-significance, Spastic paraplegia 62, autosomal recessive 100,154,912(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs876657413 pathogenic, Spastic paraplegia 62, autosomal recessive 100,154,922(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs876661322 pathogenic, Spastic paraplegia 62, autosomal recessive 100,183,802(-) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_077847 Spastic paraplegia 62, autosomal recessive (SPG62) [MIM:615681] p.Gly48Val
rs1000007649 -- 100,151,016(-) G/C 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ERLIN1 Gene

Variant ID Type Subtype PubMed ID
esv2572118 CNV deletion 19546169

Variation tolerance for ERLIN1 Gene

Residual Variation Intolerance Score: 43.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.27; 81.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERLIN1 Gene

Human Gene Mutation Database (HGMD)
ERLIN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERLIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERLIN1 Gene

Disorders for ERLIN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ERLIN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ERLN1_HUMAN
  • Spastic paraplegia 62, autosomal recessive (SPG62) [MIM:615681]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ERLIN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ERLIN1: view

No data available for Genatlas for ERLIN1 Gene

Publications for ERLIN1 Gene

  1. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 4 58
  2. Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER. (PMID: 16835267) Browman DT … Robbins SM (Journal of cell science 2006) 2 3 4 58
  3. Identification and characterization of a novel gene KE04 differentially expressed by activated human dendritic cells. (PMID: 11118313) Li N … Cao X (Biochemical and biophysical research communications 2000) 2 3 4 58
  4. Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis. (PMID: 24217618) Huber MD … Gerace L (The Journal of cell biology 2013) 3 4 58
  5. Membrane-associated ubiquitin ligase complex containing gp78 mediates sterol-accelerated degradation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase. (PMID: 21343306) Jo Y … DeBose-Boyd RA (The Journal of biological chemistry 2011) 3 4 58

Products for ERLIN1 Gene

Sources for ERLIN1 Gene

Content
Loading form....