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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ERLEC1 Gene

protein-coding   GIFtS: 54
GCID: GC02P054015

endoplasmic reticulum lectin 1

(Previous name: chromosome 2 open reading frame 30 )
(Previous symbol: C2orf30)
  Search for ERLEC1
in our new
 Human Malady Compendium 
Biological research products
for ERLEC1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Endoplasmic Reticulum Lectin 11 2     Chromosome 2 Open Reading Frame 301
C2orf301 2 3     CIM2
XTP3TPB1 2 3     CL249362
CL250841 2     Cancer Invasion And Metastasis-Related2
XTP3-B1 2     Erlectin 12
ER Lectin2 3     XTP3-Transactivated Protein B2
XTP3-Transactivated Gene B Protein2 3     Erlectin3
ERLECTIN1     C20orf305

External Ids:    HGNC: 252221   Entrez Gene: 272482   Ensembl: ENSG000000689127   OMIM: 6112295   UniProtKB: Q96DZ13   

Export aliases for ERLEC1 gene to outside databases

Previous GC identifers: GC02P053867 GC02P053748


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ERLEC1:
This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is
thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase
complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes
metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been
identified on chromosome 21. (provided by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: ERLEC_HUMAN, Q96DZ1
Function: Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic
reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins
and glycoproteins

Gene Wiki entry for ERLEC1 (C2orf30)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ERLEC1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERLEC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ERLEC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERLEC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p16.2   Ensembl cytogenetic band:  2p16.2   HGNC cytogenetic band: 2p16

ERLEC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERLEC1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P054015:  view genomic region     (about GC identifiers)

Start:
54,014,068 bp from pter      End:
54,046,495 bp from pter
Size:
32,428 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ERLEC_HUMAN, Q96DZ1 (See protein sequence)
Recommended Name: Endoplasmic reticulum lectin 1 precursor  
Size: 483 amino acids; 54858 Da
Subunit: May form a complex with OS9, HSPA5, SYVN1, and SEL1L with which it interacts directly. Interacts (via PRKCSH 2
domain) with KREMEN2 (when glycosylated). Interacts with HSPA5
Subcellular location: Endoplasmic reticulum lumen
Secondary accessions: B2RDB4 O95901 Q6UWN7 Q9NUY7 Q9UQL4
Alternative splicing: 2 isoforms:  Q96DZ1-1   Q96DZ1-2   

Explore the universe of human proteins at neXtProt for ERLEC1: NX_Q96DZ1

Post-translational modifications:

  • Isoform 1 and isoform 2 are N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96DZ1

  • ERLEC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001120869.1  NP_001120870.1  NP_056516.2  

    ENSEMBL proteins: 
     ENSP00000385629   ENSP00000185150   ENSP00000367485  

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    Uscn Proteins for ERLEC1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen IDA18264092


    ERLEC1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ERLEC1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009011 Man6P_isomerase_rcpt-bd_dom
     IPR012913 PRKCSH

    Graphical View of Domain Structure for InterPro Entry Q96DZ1

    ProtoNet protein and cluster: Q96DZ1

    1 Blocks protein family: IPB012913 Glucosidase II beta subunit-like

    UniProtKB/Swiss-Prot: ERLEC_HUMAN, Q96DZ1
    Similarity: Contains 2 PRKCSH domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ERLEC_HUMAN, Q96DZ1
    Function: Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic
    reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins
    and glycoproteins

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    hsa-miR-140-5p hsa-miR-4288 hsa-miR-128 hsa-miR-488 hsa-miR-632 hsa-miR-346 hsa-miR-3167 hsa-miR-374a*
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IDA16531414
    GO:0005515protein binding IPI18502753


    ERLEC1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for ERLEC1:
     Decreased TP53 protein express  Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for ERLEC1):
        Protein processing in endoplasmic reticulum


    ERLEC1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ERLEC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for ERLEC1 (Q96DZ12, 3 ENSP000001851504) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1AP194382, 3, ENSP000001627494MINT-49337 I2D: score=2 STRING: ENSP00000162749
    GH1P012413, ENSP000003126734I2D: score=1 STRING: ENSP00000312673
    LIPEQ054693I2D: score=2 
    SEL1LENSP000003370534STRING: ENSP00000337053
    ASGR2ENSP000003471404STRING: ENSP00000347140
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030433ER-associated protein catabolic process IDA18502753


    ERLEC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ERLEC1
    Search CenterWatch for drugs/clinical trials and news about ERLEC1 / ERLEC 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ERLEC1 gene (3 alternative transcripts): 
    NM_001127397.2  NM_001127398.2  NM_015701.4  

    Unigene Cluster for ERLEC1:

    Endoplasmic reticulum lectin 1
    Hs.438336  [show with all ESTs]
    Unigene Representative Sequence: NM_015701
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000494373 ENST00000405123 ENST00000185150(uc002rxl.3 uc002rxm.3)
    ENST00000378239(uc002rxn.3)

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    hsa-miR-140-5p hsa-miR-4288 hsa-miR-128 hsa-miR-488 hsa-miR-632 hsa-miR-346 hsa-miR-3167 hsa-miR-374a*
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    Additional cDNA sequence: 

    AF131743.1 AF131849.1 AK001913.1 AK315477.1 AY358717.1 AY453410.1 BC013129.1 BC022228.1 

    16 DOTS entries:

    DT.454783  DT.100879573  DT.100726163  DT.40279012  DT.120956248  DT.100879576  DT.120956301  DT.40119338 
    DT.95154973  DT.100791649  DT.100839623  DT.100879561  DT.100879571  DT.92040309  DT.92439657  DT.99954574 

    24/391 AceView cDNA sequences (see all 391):

    CR601764 CB069064 BG575832 AI262306 BC022228 N20505 CR613668 CA843632 
    AA400755 CA848836 BU688582 AI811580 AA152018 BU622770 AI089654 CR608194 
    BM565514 AI753692 AI873149 CB127206 AA152092 AL597609 CB137868 AI911838 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ERLEC1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
    SP1:        -                                                                                       
    SP2:        -                                               -                                       
    SP3:                                                                                                


    ECgene alternative splicing isoforms for ERLEC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ERLEC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGTTGTCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ERLEC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal VesicleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ERLEC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERLEC1

    SOURCE GeneReport for Unigene cluster: Hs.438336
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ERLEC1 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ERLEC16
    Uncharacterized protein
    80(a)
    1 ↔ 1
    3(2954043-2965152)
    lizard
    (Anolis carolinensis)
    Reptilia ERLEC16
    --
    75(a)
    1 ↔ 1
    1(263028442-263049412)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.220202 Xenopus laevis transcribed sequence with weak similarity more 76.54(n)    CB558691.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb3092 sbcb309 73.29(n)   368331  BC044498.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG67661 CG6766 47.62(n)
    37.68(a)
      34619  NM_135693.1  NP_609537.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y105E8A.26
    --
    27(a)
    1 ↔ 1
    I(14347502-14358313)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G350806
    protein OS-9
    20(a)
    1 → many
    5(13354273-13356817)
    rice
    (Oryza sativa)
    Liliopsida --
    glucosidase II beta subunit-like domain containing...
    23(a)
    1 → many
    6(26315045-26317959)


    ENSEMBL Gene Tree for ERLEC1 (if available)
    TreeFam Gene Tree for ERLEC1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ERLEC1 gene
    OS92  
    1 SIMAP similar gene for ERLEC1 using alignment to 2 protein entries:     ERLEC_HUMAN (see all proteins):
    OS9

    ERLEC1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ERLEC1
    PGOHUM00000239144


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/592 NCBI SNPs in ERLEC1 are shown (see all 592    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs129962731,2
    C,H--53746630(+) TCCTCA/CCAGAA 3 -- us2k1 tfbs34Minor allele frequency- C:0.00NS EA 420
    rs129964751,2
    C,H--53746641(+) GTCTCC/TTCTGA 3 -- us2k14Minor allele frequency- T:0.00NS EA 420
    rs129964761,2
    H--53746643(+) CTCCTC/TTGACT 3 -- us2k14Minor allele frequency- T:0.00NS EA 420
    rs129963171,2
    C,H--53746694(+) ACATAA/CCCTTA 3 -- us2k14Minor allele frequency- C:0.00NS EA 420
    rs1137139141,2
    --53747458(+) AAAAAT/ATTTTT 3 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1167432641,2
    C,F,--53747992(+) TTAAGT/CAACGA 3 -- us2k11Minor allele frequency- C:0.02WA 118
    rs786019131,2
    F,--53748036(+) TAAGCC/GTCAAG 3 -- us2k11Minor allele frequency- G:0.07WA 118
    rs25425861,2
    C--53748381(+) TCGATC/TCCCAC 3 -- us2k10--------
    rs772762231,2
    --53748590(+) GCTTTA/GTAGTC 3 -- ut511Minor allele frequency- G:0.01WA 118
    rs1154796001,2
    C,F,--53749009(+) CGTTCG/TTTCTC 3 -- int11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for ERLEC1 (54014068 - 54046495 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ERLEC1
         1 CNV: 4285

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ERLEC1 for disorders           About MalaCards

    ERLEC1 for disorders           About GeneDecksing

    OMIM gene information: 611229    OMIM disorders: --


    Export disorders for ERLEC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ERLEC1 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with ERLEC1)
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    1. OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD. (PubMed id 18264092)1, 2, 3 Christianson J.C.... Kopito R.R. (2008)
    2. The MRH protein Erlectin is a member of the endoplasmic reticulum synexpression group and functions in N-glycan recognition. (PubMed id 16531414)1, 2, 3 Cruciat C.M....Niehrs C. (2006)
    3. Human XTP3-B forms an endoplasmic reticulum quality control scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP. (PubMed id 18502753)1, 2 Hosokawa N.... Nagata K. (2008)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    8. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    9. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27248 HGNC: 25222 AceView: C2orf30 Ensembl:ENSG00000068912 euGenes: HUgn27248
    ECgene: ERLEC1 Kegg: 27248 H-InvDB: ERLEC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ERLEC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ERLEC1 gene:
    Search GeneIP for patents involving ERLEC1

    GeneCards and IP:
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