Gene Gene information from NCBI Gene database.
Entrez ID 57222
Gene name Endoplasmic reticulum-golgi intermediate compartment 1
Gene symbol ERGIC1
Synonyms (NCBI Gene)
AMC2AMCNERGIC-32ERGIC32NET24
Chromosome 5
Chromosome location 5q35.1
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]
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1581595267 G>A Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
842
miRTarBase ID miRNA Experiments Reference
MIRT020634 hsa-miR-155-5p Proteomics 18668040
MIRT049405 hsa-miR-92a-3p CLASH 23622248
MIRT038584 hsa-miR-106b-3p CLASH 23622248
MIRT703875 hsa-miR-5700 HITS-CLIP 23313552
MIRT703874 hsa-miR-3613-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 15308636, 31142615, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617946 29205 ENSG00000113719
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969X5
Protein name Endoplasmic reticulum-Golgi intermediate compartment protein 1 (ER-Golgi intermediate compartment 32 kDa protein) (ERGIC-32)
Protein function Possible role in transport between endoplasmic reticulum and Golgi.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13850 ERGIC_N 5 98 Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC) Domain
PF07970 COPIIcoated_ERV 95 271 Endoplasmic reticulum vesicle transporter Family
Sequence
MPFDFRRFDIYRKVPKDLTQPTYTGAIISICCCLFILFLFLSELTGFITTEVVNELYVDD
PDKDSGGKIDVSLNISLPNLHCELVGLDIQDEMG
RHEVGHIDNSMKIPLNNGAGCRFEGQ
FSINKVPGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQVQNIHGAFNALGGADRLTSN
PLASHDYILKIVPTVYEDKSGKQRYSYQYTVANKEYVAYSHTGRIIPAIWFRYDLSPITV
KYTERRQPLYRFITTICAIIGGTFTVAGILD
SCIFTASEAWKKIQLGKMH
Sequence length 290
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arthrogryposis multiplex congenita 2, neurogenic type Pathogenic rs1554112524 RCV000626312
Flexion contracture Likely pathogenic rs1581595267 RCV001007807
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ERGIC1-related disorder Likely benign rs141880390, rs200458222, rs200374455, rs766175287 RCV003929147
RCV003899564
RCV003911417
RCV003927206
Thyroid cancer, nonmedullary, 1 Uncertain significance rs754272525 RCV005937472
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 29630712
Arthrogryposis Associate 31230720, 34037256
Prostatic Neoplasms Associate 22761906
Stomach Neoplasms Associate 28970727