Gene Gene information from NCBI Gene database.
Entrez ID 372
Gene name Archain 1 coat protein complex I subunit delta
Gene symbol ARCN1
Synonyms (NCBI Gene)
COPDSRMMDSSMG
Chromosome 11
Chromosome location 11q23.3
Summary 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.
4
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.
1352
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600820 649 ENSG00000095139
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ARCN1-related disorder Likely pathogenic; Pathogenic rs2135556662, rs2497705812 RCV003403745
RCV004753661
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay Pathogenic; Likely pathogenic rs1565363889, rs1939060948, rs2135556648, rs2135539546, rs2135542758, rs2135542081, rs1018525321, rs2497682237, rs2497713595, rs2497688582, rs886040858, rs886040859, rs886040860, rs2497705927, rs2497717723
View all (1 more)
RCV001335853
RCV001335852
RCV001353369
RCV001775242
RCV002251233
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATAXIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Microcephaly Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 29909285
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 25454198, 29270008, 29662900, 30332938, 30464438
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 31651255
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 17988392
★☆☆☆☆
Found in Text Mining only
Allergic sensitization Allergic Sensitization BEFREE 30764884
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 11194775, 12149538, 15888825, 16088434, 18931508, 22222125, 22356581, 22793939, 25218041, 26141072, 27812629, 28416015, 28558837, 28915894, 28943279
View all (7 more)
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 29089753, 29805259, 30139350, 30482453
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 28790811
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 27567496, 27900466, 27927840, 28053516, 29033562, 29731625, 30254429, 30782350, 31034818, 31151409, 31439045, 31488740, 31518364
★☆☆☆☆
Found in Text Mining only