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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 Autosomal Recessive Spastic Paraplegia Type 62 and Spastic Paraplegia 62. Among its related pathways are HIV Life Cycle and Regulation of activated PAK-2p34 by proteasome mediated degradation. 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

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

Genomics for ERLIN1 Gene

Regulatory Elements for ERLIN1 Gene

Enhancers for ERLIN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F100166 0.6 Ensembl ENCODE 16.3 +20.6 20563 1.8 ZNF121 ERLIN1 ENSG00000236308 SPCS2P2
GH10F100148 1.3 FANTOM5 Ensembl ENCODE 13.5 +39.2 39180 1.7 SIN3A ZNF384 EBF1 ZFHX2 ZNF366 EGR1 SCRT2 EED FOS TCF7L2 BLOC1S2 ERLIN1 ENSG00000236308 CPN1 RNU6-422P CWF19L1 CHUK DNMBP SPCS2P2
GH10F100178 1 FANTOM5 ENCODE 11.7 +5.2 5163 8.7 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 BLOC1S2 CWF19L1 EBAG9P1 ERLIN1 ENSG00000236308 ENSG00000272572 CHUK DNMBP SPCS2P2
GH10F100153 0.5 ENCODE 10.5 +34.7 34716 0.2 ERLIN1 ENSG00000236308 RNU6-422P CWF19L1 SPCS2P2
GH10F100004 0.6 ENCODE 9.7 +180.6 180629 6.9 HDGF ATF1 PKNOX1 WRNIP1 ZFP64 SIN3A FEZF1 ZNF2 YY1 ZNF121 DNMBP PHBP9 ENTPD7 EBAG9P1 ERLIN1 DNMBP-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ERLIN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ERLIN1 Gene

Chromosome:
10
Start:
100,150,090 bp from pter
End:
100,188,334 bp from pter
Size:
38,245 bases
Orientation:
Minus strand

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

No data available for DME Specific Peptides for ERLIN1 Gene

Domains & Families for ERLIN1 Gene

Protein Domains for ERLIN1 Gene

InterPro:
ProtoNet:

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

No data available for Gene Families for ERLIN1 Gene

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).

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ERLIN1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Jensen Localization Image for ERLIN1 Gene COMPARTMENTS Subcellular localization image for ERLIN1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
golgi apparatus 1

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 IEA,IDA 16835267
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 ER-associated ubiquitin-dependent protein catabolic process 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

Transcripts for ERLIN1 Gene

Unigene Clusters for ERLIN1 Gene

ER lipid raft associated 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with ERLIN1: view

Primer Products

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 34 35
  • 99.9 (n)
cow
(Bos Taurus)
Mammalia BT.28958 35
  • 95 (a)
OneToOne
ERLIN1 34
  • 94.16 (n)
dog
(Canis familiaris)
Mammalia ERLIN1 34 35
  • 93.87 (n)
rat
(Rattus norvegicus)
Mammalia Erlin1 34
  • 92.72 (n)
mouse
(Mus musculus)
Mammalia Erlin1 34 16 35
  • 91.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERLIN1 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERLIN1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERLIN1 34 35
  • 76.28 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia erlin1 34
  • 78.78 (n)
zebrafish
(Danio rerio)
Actinopterygii erlin1 34 35
  • 75.91 (n)
worm
(Caenorhabditis elegans)
Secernentea erl-1 35
  • 63 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.5495 34
wheat
(Triticum aestivum)
Liliopsida Ta.24148 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11132 35
  • 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 Sequence Context AA Info Type
rs876657413 Pathogenic 100,154,922(-) TGGCC(C/T)GAGAG nc-transcript-variant, reference, stop-gained
rs876661322 Pathogenic 100,183,802(-) ACCAG(G/T)CTATC nc-transcript-variant, reference, missense
rs1044968 -- 100,156,175(-) AAAAA(A/G)AAACT nc-transcript-variant, reference, missense
rs10509741 -- 100,157,609(+) GAACT(A/G)CTCCA intron-variant
rs10706601 -- 100,163,379(+) TCTTA(-/A)AAAAA intron-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)

Relevant External Links 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

(3) MalaCards diseases for ERLIN1 Gene - From: ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive spastic paraplegia type 62
  • spg62
spastic paraplegia 62
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ERLIN1

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

No data available for UniProtKB/Swiss-Prot and Genatlas for ERLIN1 Gene

Publications for ERLIN1 Gene

  1. 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 D.T. … Robbins S.M. (J. Cell Sci. 2006) 2 3 4 64
  2. Identification and characterization of a novel gene KE04 differentially expressed by activated human dendritic cells. (PMID: 11118313) Li N. … Cao X. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 64
  3. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3 64
  4. Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis. (PMID: 24217618) Huber M.D. … Gerace L. (J. Cell Biol. 2013) 3 4 64
  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 R.A. (J. Biol. Chem. 2011) 3 4 64

Products for ERLIN1 Gene

Sources for ERLIN1 Gene

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