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    ERLEC1 endoplasmic reticulum lectin 1 [ Homo sapiens (human) ]

    Gene ID: 27248, updated on 12-May-2019

    Summary

    Official Symbol
    ERLEC1provided by HGNC
    Official Full Name
    endoplasmic reticulum lectin 1provided by HGNC
    Primary source
    HGNC:HGNC:25222
    See related
    Ensembl:ENSG00000068912 MIM:611229
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CIM; HEL117; XTP3-B; C2orf30; CL24936; CL25084; XTP3TPB
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 36.0), prostate (RPKM 29.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See ERLEC1 in Genome Data Viewer
    Location:
    2p16.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (53786931..53834524)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (54014068..54045956)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374601 Neighboring gene GPR75-ASB3 readthrough Neighboring gene ankyrin repeat and SOCS box containing 3 Neighboring gene ChaC cation transport regulator homolog 2 Neighboring gene uncharacterized LOC112268415 Neighboring gene microRNA 3682 Neighboring gene G protein-coupled receptor 75

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with endoplasmic reticulum lectin 1 (ERLEC1; XTP3B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with endoplasmic reticulum lectin 1 (ERLEC1; XTP3B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • ABC transporter disorders, organism-specific biosystem (from REACTOME)
      ABC transporter disorders, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Defective CFTR causes cystic fibrosis, organism-specific biosystem (from REACTOME)
      Defective CFTR causes cystic fibrosis, organism-specific biosystemCystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • HRD1/SEL1 ERAD complex, organism-specific biosystem (from KEGG)
      HRD1/SEL1 ERAD complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
    • HRD1/SEL1 ERAD complex, conserved biosystem (from KEGG)
      HRD1/SEL1 ERAD complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
    • Hedgehog ligand biogenesis, organism-specific biosystem (from REACTOME)
      Hedgehog ligand biogenesis, organism-specific biosystemMammalian genomes encode three Hedgehog ligands, Sonic Hedgehog (SHH), Indian Hedgehog (IHH) and Desert Hedgehog (DHH). These secreted morphogens can remain associated with lipid rafts on the surfac...
    • Hh mutants abrogate ligand secretion, organism-specific biosystem (from REACTOME)
      Hh mutants abrogate ligand secretion, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
    • Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystem (from REACTOME)
      Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    unfolded protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    ERAD pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of retrograde protein transport, ER to cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde protein transport, ER to cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    ubiquitin-dependent ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum quality control compartment TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    endoplasmic reticulum lectin 1
    Names
    ER lectin
    XTP3-transactivated gene B protein
    XTP3-transactivated protein B
    cancer invasion and metastasis-related
    epididymis luminal protein 117
    erlectin 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029742.1 RefSeqGene

      Range
      5001..36889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127397.2NP_001120869.1  endoplasmic reticulum lectin 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AA687108, BC013129, BQ017438, DB451941
      Consensus CDS
      CCDS46283.1
      UniProtKB/Swiss-Prot
      Q96DZ1
      Related
      ENSP00000385629.3, ENST00000405123.7
      Conserved Domains (2) summary
      pfam07915
      Location:111199
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:206250
      PRKCSH; Glucosidase II beta subunit-like protein
    2. NM_001127398.2NP_001120870.1  endoplasmic reticulum lectin 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001120870.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3, also known as hXTP3-B-short) that is shorter than isoform 1.
      Source sequence(s)
      AA687108, AY358717, DB451941
      Consensus CDS
      CCDS46284.1
      UniProtKB/Swiss-Prot
      Q96DZ1
      Related
      ENSP00000367485.5, ENST00000378239.5
      Conserved Domains (2) summary
      pfam07915
      Location:294367
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:206250
      PRKCSH; Glucosidase II beta subunit-like protein
    3. NM_015701.5NP_056516.2  endoplasmic reticulum lectin 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_056516.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as hXTP3-B-long).
      Source sequence(s)
      BC013129, DB451941
      Consensus CDS
      CCDS1848.1
      UniProtKB/Swiss-Prot
      Q96DZ1
      UniProtKB/TrEMBL
      V9HWD3
      Related
      ENSP00000185150.4, ENST00000185150.9
      Conserved Domains (2) summary
      pfam07915
      Location:342421
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:206250
      PRKCSH; Glucosidase II beta subunit-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      53786931..53834524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452792.1XP_024308560.1  endoplasmic reticulum lectin 1 isoform X1

      Conserved Domains (2) summary
      pfam07915
      Location:342421
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:206250
      PRKCSH; Glucosidase II beta subunit-like protein
    2. XM_024452793.1XP_024308561.1  endoplasmic reticulum lectin 1 isoform X3

      Conserved Domains (2) summary
      pfam07915
      Location:294367
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:206250
      PRKCSH; Glucosidase II beta subunit-like protein
    3. XM_011532766.1XP_011531068.1  endoplasmic reticulum lectin 1 isoform X2

      Conserved Domains (2) summary
      pfam07915
      Location:342421
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:206250
      PRKCSH; Glucosidase II beta subunit-like protein
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