Human Gene ERLIN1 (ENST00000421367.7_7) from GENCODE V47lift37
  Description: ER lipid raft associated 1, transcript variant 14 (from RefSeq NR_144760.2)
Gencode Transcript: ENST00000421367.7_7
Gencode Gene: ENSG00000107566.14_11
Transcript (Including UTRs)
   Position: hg19 chr10:101,909,851-101,945,786 Size: 35,936 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr10:101,911,888-101,945,383 Size: 33,496 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:101,909,851-101,945,786)mRNA (may differ from genome)Protein (348 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ERLN1_HUMAN
DESCRIPTION: RecName: Full=Erlin-1; AltName: Full=Endoplasmic reticulum lipid raft-associated protein 1; AltName: Full=Protein KE04; AltName: Full=Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1; Short=SPFH domain-containing protein 1;
FUNCTION: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs).
SUBUNIT: Forms a heteromeric complex with ERLIN2. In complex with ERLIN2, interacts with RNF170.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.
TISSUE SPECIFICITY: Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine.
SIMILARITY: Belongs to the band 7/mec-2 family.
CAUTION: This sequence contains two in frame methionine codon situated in atypical consensus Kozak sequence in the 5'terminus. By homolog comparison, the second ATG was supposed to be the start codon according to PubMed:11118313.
SEQUENCE CAUTION: Sequence=CAQ10515.1; Type=Erroneous initiation; Sequence=EAW49846.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ERLIN1
Diseases sorted by gene-association score: spastic paraplegia 62* (1690), hereditary spastic paraplegia 62* (400), cystic fibrosis (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.12 RPKM in Cells - Cultured fibroblasts
Total median expression: 609.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -188.60403-0.468 Picture PostScript Text
3' UTR -595.602037-0.292 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001107 - Band_7

Pfam Domains:
PF01145 - SPFH domain / Band 7 family

SCOP Domains:
117892 - Band 7/SPFH domain
56634 - Heme-dependent catalase-like

ModBase Predicted Comparative 3D Structure on O75477
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015485 cholesterol binding
GO:0031625 ubiquitin protein ligase binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0032933 SREBP signaling pathway
GO:0045541 negative regulation of cholesterol biosynthetic process
GO:0045717 negative regulation of fatty acid biosynthetic process
GO:0055085 transmembrane transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  LF211340 - JP 2014500723-A/18843: Polycomb-Associated Non-Coding RNAs.
BC031791 - Homo sapiens ER lipid raft associated 1, mRNA (cDNA clone MGC:24915 IMAGE:4214940), complete cds.
AK127017 - Homo sapiens cDNA FLJ45073 fis, clone BRAWH3027420.
JD519934 - Sequence 500958 from Patent EP1572962.
LF345682 - JP 2014500723-A/153185: Polycomb-Associated Non-Coding RNAs.
JD296654 - Sequence 277678 from Patent EP1572962.
LF345683 - JP 2014500723-A/153186: Polycomb-Associated Non-Coding RNAs.
JD546736 - Sequence 527760 from Patent EP1572962.
JD355845 - Sequence 336869 from Patent EP1572962.
LF345684 - JP 2014500723-A/153187: Polycomb-Associated Non-Coding RNAs.
JD515046 - Sequence 496070 from Patent EP1572962.
JD415901 - Sequence 396925 from Patent EP1572962.
JD296117 - Sequence 277141 from Patent EP1572962.
JD122499 - Sequence 103523 from Patent EP1572962.
JD119559 - Sequence 100583 from Patent EP1572962.
JD421057 - Sequence 402081 from Patent EP1572962.
JD421300 - Sequence 402324 from Patent EP1572962.
JD215184 - Sequence 196208 from Patent EP1572962.
JD477309 - Sequence 458333 from Patent EP1572962.
JD536028 - Sequence 517052 from Patent EP1572962.
JD185170 - Sequence 166194 from Patent EP1572962.
JD117982 - Sequence 99006 from Patent EP1572962.
JD253077 - Sequence 234101 from Patent EP1572962.
JD330208 - Sequence 311232 from Patent EP1572962.
JD339691 - Sequence 320715 from Patent EP1572962.
AK222480 - Homo sapiens mRNA for SPFH domain family, member 1 variant, clone: adKA01927.
AF064093 - Homo sapiens KE04p mRNA, complete cds.
JD117821 - Sequence 98845 from Patent EP1572962.
LF345685 - JP 2014500723-A/153188: Polycomb-Associated Non-Coding RNAs.
JD184049 - Sequence 165073 from Patent EP1572962.
JD464043 - Sequence 445067 from Patent EP1572962.
AK298427 - Homo sapiens cDNA FLJ57553 complete cds, highly similar to SPFH domain-containing protein 1 precursor.
JD357107 - Sequence 338131 from Patent EP1572962.
JD361137 - Sequence 342161 from Patent EP1572962.
JD349866 - Sequence 330890 from Patent EP1572962.
JD318637 - Sequence 299661 from Patent EP1572962.
JD250751 - Sequence 231775 from Patent EP1572962.
AK315580 - Homo sapiens cDNA, FLJ96656, highly similar to Homo sapiens SPFH domain family, member 1 (SPFH1), mRNA.
KJ900813 - Synthetic construct Homo sapiens clone ccsbBroadEn_10207 ERLIN1 gene, encodes complete protein.
DQ894532 - Synthetic construct Homo sapiens clone IMAGE:100008992; FLH171318.01L; RZPDo839H0699D SPFH domain family, member 1 (SPFH1) gene, encodes complete protein.
EU176273 - Synthetic construct Homo sapiens clone IMAGE:100006380; FLH171325.01X; RZPDo839G11250D ER lipid raft associated 1 (ERLIN1) gene, encodes complete protein.
AB528551 - Synthetic construct DNA, clone: pF1KB9925, Homo sapiens ERLIN1 gene for ER lipid raft associated 1, without stop codon, in Flexi system.
CU689234 - Synthetic construct Homo sapiens gateway clone IMAGE:100019040 5' read ERLIN1 mRNA.
LF345687 - JP 2014500723-A/153190: Polycomb-Associated Non-Coding RNAs.
AK056574 - Homo sapiens cDNA FLJ32012 fis, clone NTONG1000006, highly similar to Homo sapiens KE04p mRNA.
LF345689 - JP 2014500723-A/153192: Polycomb-Associated Non-Coding RNAs.
LF345690 - JP 2014500723-A/153193: Polycomb-Associated Non-Coding RNAs.
LF345696 - JP 2014500723-A/153199: Polycomb-Associated Non-Coding RNAs.
LF345697 - JP 2014500723-A/153200: Polycomb-Associated Non-Coding RNAs.
LF345698 - JP 2014500723-A/153201: Polycomb-Associated Non-Coding RNAs.
MA581259 - JP 2018138019-A/153185: Polycomb-Associated Non-Coding RNAs.
MA581260 - JP 2018138019-A/153186: Polycomb-Associated Non-Coding RNAs.
MA581261 - JP 2018138019-A/153187: Polycomb-Associated Non-Coding RNAs.
MA581262 - JP 2018138019-A/153188: Polycomb-Associated Non-Coding RNAs.
MA581264 - JP 2018138019-A/153190: Polycomb-Associated Non-Coding RNAs.
MA581266 - JP 2018138019-A/153192: Polycomb-Associated Non-Coding RNAs.
MA581267 - JP 2018138019-A/153193: Polycomb-Associated Non-Coding RNAs.
MA581273 - JP 2018138019-A/153199: Polycomb-Associated Non-Coding RNAs.
MA581274 - JP 2018138019-A/153200: Polycomb-Associated Non-Coding RNAs.
MA581275 - JP 2018138019-A/153201: Polycomb-Associated Non-Coding RNAs.
MA446917 - JP 2018138019-A/18843: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75477 (Reactome details) participates in the following event(s):

R-HSA-8866551 CFTR binds components of the ERAD machinery for ubiquitination and degradation
R-HSA-8866857 CFTR F508del binds components of the ERAD machinery for ubiquitination and degradation
R-HSA-8866542 VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosol
R-HSA-8866854 VCP-catalyzed ATP hydrolysis promotes the translocation of CFTR F508del into the cytosol
R-HSA-8866546 RNF5 and RNF185 ubiquitinate misfolded CFTR
R-HSA-8866856 RNF5 and RNF185 ubiquitinate CFTR F508del
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5678895 Defective CFTR causes cystic fibrosis
R-HSA-382551 Transport of small molecules
R-HSA-5619084 ABC transporter disorders
R-HSA-5619115 Disorders of transmembrane transporters
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B0QZ42, C10orf69 , D3DR65, ENST00000421367.1, ENST00000421367.2, ENST00000421367.3, ENST00000421367.4, ENST00000421367.5, ENST00000421367.6, ERLIN1 , ERLN1_HUMAN, KE04 , KEO4, NR_144760, O75477, Q53HV0, SPFH1 , uc319quh.1, uc319quh.2
UCSC ID: ENST00000421367.7_7
RefSeq Accession: NM_006459.4
Protein: O75477 (aka ERLN1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ERLIN1:
hsp (Hereditary Spastic Paraplegia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.