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    ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 [ Homo sapiens (human) ]

    Gene ID: 57222, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ERGIC1provided by HGNC
    Official Full Name
    endoplasmic reticulum-golgi intermediate compartment 1provided by HGNC
    Primary source
    HGNC:HGNC:29205
    See related
    Ensembl:ENSG00000113719 MIM:617946; AllianceGenome:HGNC:29205
    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
    AMC2; AMCN; NET24; ERGIC32; ERGIC-32
    Summary
    This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in prostate (RPKM 69.0), adrenal (RPKM 49.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ERGIC1 in Genome Data Viewer
    Location:
    5q35.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (172834251..172952683)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (173374397..173492729)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (172261254..172379686)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr5:172194940-172195132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16625 Neighboring gene VISTA enhancer hs1828 Neighboring gene uncharacterized LOC105377730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172214701-172215202 Neighboring gene dual specificity phosphatase 1 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172232818-172233634 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:172233916-172235115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172246893-172247394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172250515-172251016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172251017-172251516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172262000-172262992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172262993-172263984 Neighboring gene uncharacterized LOC124901135 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:172276540-172277739 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:172281789-172282290 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:172285332-172285509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172286171-172287171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172290019-172290520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172304495-172305470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172305471-172306446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172328739-172329249 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:172331587-172332786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172341803-172342303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172345389-172345890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172347219-172347863 Neighboring gene microRNA 10523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23649 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:172370360-172370531 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:172382074-172383273 Neighboring gene RPL26L1 antisense RNA 1 Neighboring gene ribosomal protein L26 like 1 Neighboring gene inorganic pyrophosphatase 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. Reinstein E, et al. Clin Genet, 2018 Jan. PMID 28317099
    2. Differential Expression and Significance of Endoplasmic Reticulum Golgi Intermediate Compartment 1 in Precancerous Gastric Lesions and Gastric Cancer. Wang F, et al. Am J Med Sci, 2018 Mar. PMID 29549924
    3. Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis. Marconi C, et al. Clin Genet, 2021 Sep. PMID 34037256, Free PMC Article
    4. Aberrant DNA-PKcs and ERGIC1 expression may be involved in initiation of gastric cancer. Wang FR, et al. World J Gastroenterol, 2017 Sep 7. PMID 28970727, Free PMC Article
    5. High-throughput transcriptomic and RNAi analysis identifies AIM1, ERGIC1, TMED3 and TPX2 as potential drug targets in prostate cancer. Vainio P, et al. PLoS One, 2012. PMID 22761906, Free PMC Article

    See all (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
      Title: Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
    2. Homozygous pathogenic variant in the endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 protein (ERGIC1) gene was identified in arthrogryposis multiplex congenita (AMC) neuropathic type.
      Title: Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.
    3. ERGIC1 might play an inhibitory role in the initiation and progression of gastric cancer.
      Title: Differential Expression and Significance of Endoplasmic Reticulum Golgi Intermediate Compartment 1 in Precancerous Gastric Lesions and Gastric Cancer.
    4. Data indicate that abnormal ERGIC1 and DNA-PKcs expression may play an important role in gastric cancer initiation.
      Title: Aberrant DNA-PKcs and ERGIC1 expression may be involved in initiation of gastric cancer.
    5. AIM1, ERGIC1, and TPX2 were shown to be highly expressed especially in prostate cancer tissues, and high mRNA expression of ERGIC1 and TMED3 associated with AR and ERG oncogene expression
      Title: High-throughput transcriptomic and RNAi analysis identifies AIM1, ERGIC1, TMED3 and TPX2 as potential drug targets in prostate cancer.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    8. ERGIC-32 functions as a modulator of the hErv41-hErv46 complex by stabilizing hErv46
      Title: Proteomics of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies ERGIC-32, a new cycling protein that interacts with human Erv46.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Arthrogryposis multiplex congenita 2, neurogenic type
    MedGen: C5435650 OMIM: 208100 GeneReviews: Spinal Muscular Atrophy
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with ERGIC1; predicted interaction to be within the endoplasmic reticulum to Golgi transport PubMed
    Nef nef HIV-1 Nef is identified to have a physical interaction with endoplasmic reticulum-golgi intermediate compartment 1 (ERGIC1) 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 PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39864, KIAA1181, MGC14345

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    endoplasmic reticulum-Golgi intermediate compartment protein 1
    Names
    ER-Golgi intermediate compartment 32 kDa protein
    endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1
    endoplasmic reticulum-golgi intermediate compartment 32 kDa protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001031711.3 → NP_001026881.1  endoplasmic reticulum-Golgi intermediate compartment protein 1

      See identical proteins and their annotated locations for NP_001026881.1

      Status: REVIEWED

      Source sequence(s)
      AB033007, BC014490, CD365875, DB443891
      Consensus CDS
      CCDS34292.1
      UniProtKB/Swiss-Prot
      Q969X5, Q9H0L0, Q9H2J2, Q9ULN9
      Related
      ENSP00000377374.3, ENST00000393784.8
      Conserved Domains (2) summary
      pfam07970
      Location:114 → 271
      COPIIcoated_ERV; Endoplasmic reticulum vesicle transporter
      pfam13850
      Location:5 → 98
      ERGIC_N; Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      172834251..172952683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417410.1 → XP_047273366.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I5KPY8
      Related
      ENSP00000509559.1, ENST00000686615.1

    2. XM_047417408.1 → XP_047273364.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X7

    3. XM_047417404.1 → XP_047273360.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X3

    4. XM_047417412.1 → XP_047273368.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X10

    5. XM_011534597.2 → XP_011532899.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X1

      Conserved Domains (2) summary
      pfam07970
      Location:128 → 295
      COPIIcoated_ERV; Endoplasmic reticulum vesicle transporter
      pfam13850
      Location:31 → 122
      ERGIC_N; Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC)

    6. XM_047417406.1 → XP_047273362.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X5

    7. XM_047417405.1 → XP_047273361.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X4

    8. XM_017009655.2 → XP_016865144.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X2

    9. XM_047417403.1 → XP_047273359.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X2

    10. XM_047417407.1 → XP_047273363.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X6

    11. XM_047417411.1 → XP_047273367.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X9

      Related
      ENSP00000509817.1, ENST00000687901.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      173374397..173492729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352954.1 → XP_054208929.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I5KPY8

    2. XM_054352953.1 → XP_054208928.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X7

    3. XM_054352952.1 → XP_054208927.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X3

    4. XM_054352956.1 → XP_054208931.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X10

    5. XM_054352951.1 → XP_054208926.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X1

    6. XM_054352955.1 → XP_054208930.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X9

    7. XM_054352957.1 → XP_054208932.1  endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X11

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020462.1: Suppressed sequence

      Description
      NM_020462.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969X5.1 GenPept UniProtKB/Swiss-Prot:Q969X5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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