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] See more...

Aliases for ERGIC1 Gene

Aliases for ERGIC1 Gene

  • Endoplasmic Reticulum-Golgi Intermediate Compartment 1 2 3 5
  • ERGIC-32 2 3 4
  • ERGIC32 2 3 4
  • Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC) 1 2 3
  • Endoplasmic Reticulum-Golgi Intermediate Compartment Protein 1 3 4
  • ER-Golgi Intermediate Compartment 32 KDa Protein 3 4
  • KIAA1181 2 4
  • NET24 2 3
  • Endoplasmic Reticulum-Golgi Intermediate Compartment 32 KDa Protein 3
  • ERGIC1 5
  • AMCN 3

External Ids for ERGIC1 Gene

Previous GeneCards Identifiers for ERGIC1 Gene

  • GC05P172194
  • GC05P172261
  • GC05P167356

Summaries for ERGIC1 Gene

Entrez Gene Summary for ERGIC1 Gene

  • 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]

GeneCards Summary for ERGIC1 Gene

ERGIC1 (Endoplasmic Reticulum-Golgi Intermediate Compartment 1) is a Protein Coding gene. Diseases associated with ERGIC1 include Arthrogryposis Multiplex Congenita, Neurogenic Type and Frank-Ter Haar Syndrome. An important paralog of this gene is ERGIC3.

UniProtKB/Swiss-Prot Summary for ERGIC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERGIC1 Gene

Genomics for ERGIC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERGIC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERGIC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERGIC1

Top Transcription factor binding sites by QIAGEN in the ERGIC1 gene promoter:
  • c-Myc
  • GCNF
  • GCNF-1
  • GCNF-2
  • LyF-1
  • Max
  • Meis-1
  • Meis-1a
  • Meis-1b
  • NF-1

Genomic Locations for ERGIC1 Gene

Genomic Locations for ERGIC1 Gene
chr5:172,834,251-172,952,683
(GRCh38/hg38)
Size:
118,433 bases
Orientation:
Plus strand
chr5:172,261,223-172,379,688
(GRCh37/hg19)
Size:
118,466 bases
Orientation:
Plus strand

Genomic View for ERGIC1 Gene

Genes around ERGIC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERGIC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERGIC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERGIC1 Gene

Proteins for ERGIC1 Gene

  • Protein details for ERGIC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969X5-ERGI1_HUMAN
    Recommended name:
    Endoplasmic reticulum-Golgi intermediate compartment protein 1
    Protein Accession:
    Q969X5
    Secondary Accessions:
    • Q9H0L0
    • Q9H2J2
    • Q9ULN9

    Protein attributes for ERGIC1 Gene

    Size:
    290 amino acids
    Molecular mass:
    32592 Da
    Quaternary structure:
    • Interacts with ERGIC3/ERV46.
    SequenceCaution:
    • Sequence=AAG44724.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA86495.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ERGIC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERGIC1 Gene

Post-translational modifications for ERGIC1 Gene

No data available for DME Specific Peptides for ERGIC1 Gene

Domains & Families for ERGIC1 Gene

Gene Families for ERGIC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ERGIC1 Gene

InterPro:
Blocks:
  • Protein of unknown function DUF1692
ProtoNet:

Suggested Antigen Peptide Sequences for ERGIC1 Gene

GenScript: Design optimal peptide antigens:
  • ER-Golgi intermediate compartment 32 kDa protein (ERGI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969X5

UniProtKB/Swiss-Prot:

ERGI1_HUMAN :
  • Belongs to the ERGIC family.
Family:
  • Belongs to the ERGIC family.
genes like me logo Genes that share domains with ERGIC1: view

Function for ERGIC1 Gene

Molecular function for ERGIC1 Gene

UniProtKB/Swiss-Prot Function:
Possible role in transport between endoplasmic reticulum and Golgi.

Phenotypes From GWAS Catalog for ERGIC1 Gene

Gene Ontology (GO) - Molecular Function for ERGIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15308636
genes like me logo Genes that share ontologies with ERGIC1: view
genes like me logo Genes that share phenotypes with ERGIC1: view

Human Phenotype Ontology for ERGIC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ERGIC1

CRISPR Products

miRNA for ERGIC1 Gene

miRTarBase miRNAs that target ERGIC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERGIC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ERGIC1 Gene

Localization for ERGIC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERGIC1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Multi-pass membrane protein. Golgi apparatus membrane. Multi-pass membrane protein. Note=Cycles between the endoplasmic reticulum and the Golgi.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERGIC1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 3
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERGIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005654 nucleoplasm IDA --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
genes like me logo Genes that share ontologies with ERGIC1: view

Pathways & Interactions for ERGIC1 Gene

PathCards logo

SuperPathways for ERGIC1 Gene

No Data Available

SIGNOR curated interactions for ERGIC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ERGIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport IDA 15308636
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA 21873635
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with ERGIC1: view

No data available for Pathways by source for ERGIC1 Gene

Drugs & Compounds for ERGIC1 Gene

No Compound Related Data Available

Transcripts for ERGIC1 Gene

mRNA/cDNA for ERGIC1 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERGIC1

Alternative Splicing Database (ASD) splice patterns (SP) for ERGIC1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ·
SP1: - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - -
SP6: - - - - -
SP7: -
SP8: - - - -
SP9:
SP10:
SP11:

ExUns: 15c · 15d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ERGIC1 Gene

GeneLoc Exon Structure for
ERGIC1

Expression for ERGIC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERGIC1 Gene

mRNA differential expression in normal tissues according to GTEx for ERGIC1 Gene

This gene is overexpressed in Whole Blood (x5.5).

Protein differential expression in normal tissues from HIPED for ERGIC1 Gene

This gene is overexpressed in Nasal epithelium (12.0) and Bone (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERGIC1 Gene



Protein tissue co-expression partners for ERGIC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERGIC1

SOURCE GeneReport for Unigene cluster for ERGIC1 Gene:

Hs.509163

Evidence on tissue expression from TISSUES for ERGIC1 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Lung(3.5)
  • Intestine(3.1)
  • Skin(2.6)
  • Thyroid gland(2.4)
  • Stomach(2.4)
  • Muscle(2.3)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with ERGIC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERGIC1 Gene

Orthologs for ERGIC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERGIC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ERGIC1 30 31
  • 99.77 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ERGIC1 31
  • 97 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ERGIC1 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ERGIC1 30 31
  • 92.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ERGIC1 30 31
  • 91.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ergic1 30 17 31
  • 90.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ergic1 30
  • 90.11 (n)
Chicken
(Gallus gallus)
Aves ERGIC1 30 31
  • 81.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ERGIC1 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100485859 30
  • 75.94 (n)
Str.15788 30
Zebrafish
(Danio rerio)
Actinopterygii ergic1 30 31
  • 77.85 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y102A11A.6 30 31
  • 57.63 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV46 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2137 31
  • 64 (a)
OneToOne
Species where no ortholog for ERGIC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ERGIC1 Gene

ENSEMBL:
Gene Tree for ERGIC1 (if available)
TreeFam:
Gene Tree for ERGIC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERGIC1: view image

Paralogs for ERGIC1 Gene

Paralogs for ERGIC1 Gene

genes like me logo Genes that share paralogs with ERGIC1: view

Variants for ERGIC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERGIC1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
816810 Likely Pathogenic: Flexion contracture 172,950,725(+) G/A MISSENSE_VARIANT
rs1554112524 Pathogenic: Neurogenic arthrogryposis multiplex congenita. Arthrogryposis multiplex congenita, neurogenic type (AMCN) [MIM:208100] 172,914,756(+) T/Ap.Val98Glu MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ERGIC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ERGIC1 Gene

Variant ID Type Subtype PubMed ID
esv2658996 CNV deletion 23128226
esv2731108 CNV deletion 23290073
nsv1117993 CNV deletion 24896259
nsv1146916 CNV insertion 26484159
nsv462532 CNV loss 19166990
nsv476933 CNV novel sequence insertion 20440878
nsv515804 CNV loss 19592680
nsv517972 CNV loss 19592680
nsv600295 CNV loss 21841781
nsv600296 CNV loss 21841781
nsv600297 CNV loss 21841781
nsv830555 CNV loss 17160897

Variation tolerance for ERGIC1 Gene

Residual Variation Intolerance Score: 14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERGIC1 Gene

Human Gene Mutation Database (HGMD)
ERGIC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERGIC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERGIC1 Gene

Disorders for ERGIC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ERGIC1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ERGI1_HUMAN
  • Arthrogryposis multiplex congenita, neurogenic type (AMCN) [MIM:208100]: A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMCN is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMCN transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females. {ECO:0000269 PubMed:28317099}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ERGIC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ERGIC1: view

No data available for Genatlas for ERGIC1 Gene

Publications for ERGIC1 Gene

  1. 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. (PMID: 15308636) Breuza L … Hauri HP (The Journal of biological chemistry 2004) 2 3 4
  2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  3. Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. (PMID: 28317099) Reinstein E … Shohat M (Clinical genetics 2018) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41

Products for ERGIC1 Gene

  • Signalway ELISA kits for ERGIC1
  • Signalway Proteins for ERGIC1

Sources for ERGIC1 Gene