Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
372
Gene name Gene Name - the full gene name approved by the HGNC.
Archain 1 coat protein complex I subunit delta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARCN1
Synonyms (NCBI Gene) Gene synonyms aliases
COPD, SRMMD, SSMG
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved amo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs886040858 AG>- Pathogenic Frameshift variant, coding sequence variant, intron variant
rs886040859 C>A Pathogenic Stop gained, coding sequence variant, intron variant
rs886040860 A>- Pathogenic Frameshift variant, coding sequence variant
rs1591385240 A>G Likely-pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002752 hsa-miR-1-3p pSILAC 18668040
MIRT002752 hsa-miR-1-3p Microarray 15685193
MIRT020101 hsa-miR-361-5p Sequencing 20371350
MIRT020180 hsa-miR-130b-3p Sequencing 20371350
MIRT002752 hsa-miR-1-3p Proteomics;Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600820 649 ENSG00000095139
Protein
UniProt ID P48444
Protein name Coatomer subunit delta (Archain) (Delta-coat protein) (Delta-COP)
Protein function Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the tra
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01217 Clat_adaptor_s 3 140 Clathrin adaptor complex small chain Domain
PF00928 Adap_comp_sub 262 510 Adaptor complexes medium subunit family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence
Sequence length 511
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay rs886040858, rs886040859, rs886040860, rs1591385240 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 39731039
Carcinoma Non Small Cell Lung Associate 34299277
Craniofacial Abnormalities Associate 27476655
Deafness Craniofacial Syndrome Associate 27476655
Developmental Disabilities Associate 27476655, 33154040, 39731039
Facial Dysmorphism with Multiple Malformations Associate 27476655
Fetal Growth Retardation Associate 39731039
Glioma Inhibit 23300798
Intrahepatic Cholestasis of Pregnancy Associate 33154040
Lupus Erythematosus Systemic Associate 29070082