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Aliases for ERGIC1 Gene

Aliases for ERGIC1 Gene

  • Endoplasmic Reticulum-Golgi Intermediate Compartment 1 2 3 5
  • Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC) 1 2 3
  • ER-Golgi Intermediate Compartment 32 KDa Protein 3 4
  • ERGIC-32 3 4
  • ERGIC32 3 4
  • Endoplasmic Reticulum-Golgi Intermediate Compartment 32 KDa Protein 3
  • Endoplasmic Reticulum-Golgi Intermediate Compartment Protein 1 3
  • KIAA1181 4
  • NET24 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 Distal Arthrogryposis. An important paralog of this gene is ERGIC3.

UniProtKB/Swiss-Prot for ERGIC1 Gene

  • Possible role in transport between endoplasmic reticulum and Golgi.

Additional gene information for ERGIC1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERGIC1 Gene

Genomics for ERGIC1 Gene

Regulatory Elements for ERGIC1 Gene

Enhancers for ERGIC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H172787 2.1 FANTOM5 Ensembl ENCODE dbSUPER 26.2 -38.5 -38478 16 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B YBX1 ZBTB7B YY1 ZNF766 ERGIC1 CREBRF BOD1 SH3PXD2B DUSP1 FBXW11 LOC105377730 LOC401218 LOC100130394 ENSG00000270243
GH05H172763 2.4 VISTA FANTOM5 ENCODE dbSUPER 19.7 -62.0 -62021 16 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A DUSP1 CREBRF KLF3P1 ERGIC1 ENSG00000253628 ENSG00000253172 SMIM23 BOD1 EFCAB9 LOC100268168
GH05H172851 1.9 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +23.4 23401 12 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 TCF12 ZNF121 SLC30A9 ERGIC1 DUSP1 BOD1 LOC101928093 LOC105377730 LOC401218 SH3PXD2B NKX2-5 CREBRF RPL26L1
GH05H172894 2 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +66.7 66728 12 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 ZBTB7B KLF3P1 BOD1 BNIP1 SH3PXD2B UBTD2 ERGIC1 DUSP1 ENSG00000253628 ENSG00000253172 CREBRF
GH05H172877 2 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +46.5 46546 6 HDGF PKNOX1 ATF1 ZNF766 ELK1 ZNF143 ZNF207 FOS ATF7 RUNX3 DUSP1 ERGIC1 ENSG00000254295 RPL26L1 LOC100268168 BNIP1 CREBRF
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERGIC1 on UCSC Golden Path with GeneCards custom track

Promoters for ERGIC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000190840 380 1601 ATF1 ARID4B SIN3A FEZF1 ETS1 GLIS2 ZNF143 RUNX3 SP3 ZHX2

Genomic Location for ERGIC1 Gene

Chromosome:
5
Start:
172,834,220 bp from pter
End:
172,952,685 bp from pter
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; Positions=100, 150; Evidence={ECO:0000305}; Sequence=BAA86495.1; Type=Erroneous initiation; 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

Suggested Antigen Peptide Sequences for ERGIC1 Gene

GenScript: Design optimal peptide antigens:

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ERGIC1

CRISPR Products

miRNA for ERGIC1 Gene

miRTarBase miRNAs that target ERGIC1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ERGIC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
plasma membrane 3
golgi apparatus 3

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 IEA --
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

SuperPathways for ERGIC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ERGIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IDA 15308636
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with ERGIC1: view

No data available for Pathways by source and SIGNOR curated interactions for ERGIC1 Gene

Drugs & Compounds for ERGIC1 Gene

No Compound Related Data Available

Transcripts for ERGIC1 Gene

Unigene Clusters for ERGIC1 Gene

Endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ERGIC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
ERGIC1

Expression for ERGIC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ERGIC1 Gene



Protein tissue co-expression partners for ERGIC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERGIC1 Gene:

ERGIC1

SOURCE GeneReport for Unigene cluster for ERGIC1 Gene:

Hs.509163

Evidence on tissue expression from TISSUES for ERGIC1 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Lung(3.6)
  • Intestine(3.1)
genes like me logo Genes that share expression patterns with ERGIC1: view

Primer Products

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 34 33
  • 99.77 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERGIC1 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERGIC1 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERGIC1 33 34
  • 92.64 (n)
dog
(Canis familiaris)
Mammalia ERGIC1 34 33
  • 91.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ergic1 33 16 34
  • 90.92 (n)
rat
(Rattus norvegicus)
Mammalia Ergic1 33
  • 90.11 (n)
chicken
(Gallus gallus)
Aves ERGIC1 34 33
  • 81.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERGIC1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485859 33
  • 75.94 (n)
Str.15788 33
zebrafish
(Danio rerio)
Actinopterygii ergic1 34 33
  • 77.85 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y102A11A.6 33 34
  • 57.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV46 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2137 34
  • 64 (a)
OneToOne
Species where no ortholog for ERGIC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for ERGIC1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000027051 -- 172,879,486(+) CATAG(C/T)GACAC intron-variant
rs1000031061 -- 172,842,298(+) TTCTG(A/T)GTCTG intron-variant
rs1000050160 -- 172,905,417(+) TTGTT(C/T)TTAGA intron-variant
rs1000135550 -- 172,880,706(+) TTTCT(C/T)TTCTG intron-variant
rs1000176856 -- 172,928,093(+) TTTGT(A/G)TCATG intron-variant

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)

Relevant External Links for ERGIC1 Gene

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

(1) MalaCards diseases for ERGIC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
distal arthrogryposis
  • arthrogryposis multiplex congenita
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ERGIC1

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

No data available for UniProtKB/Swiss-Prot and 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 60
  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 60
  3. 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 45 60
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 45 60
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 45 60

Products for ERGIC1 Gene

Sources for ERGIC1 Gene

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