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

Gene ID: 27248, updated on 7-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 glutathione specific gamma-glutamylcyclotransferase 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 Functions

What'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

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 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
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
    5114..36866
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 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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