1. Gene
  2. ARCN1 - archain 1 Gene

ARCN1 - archain 1 Gene

Homo sapiens

Also known as COPD; SSMG; SRMMD

Gene ID: 372 | Gene type: protein coding

About ARCN1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,572,409-118,603,033 (from NCBI)

This gene has 4 transcripts (splice variants), 233 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 45.3), urinary bladder (RPKM 37.0) and 25 other tissues.

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 among eukaryotes and this protein may play a fundamental role in eukaryotic Cell Biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]

ARCN1 Products(2)

mRNA Protein Name
NM_001142281.2 NP_001135753.1 coatomer subunit delta isoform 2
NM_001655.5 NP_001646.2 coatomer subunit delta isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARCN1 Protein Structure

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (9 - 130)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (269 - 501)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 511 a.a.
Protein Preferred Names Protein Names

coatomer subunit delta

COPI coat complex subunit delta

ARCN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ARCN1 P48444 LBHD1 Homo sapiens Q9BQE6-2 32296183
Intra
ARCN1 P48444 LBHD1 Homo sapiens Q9BQE6-2 32296183
Intra
ARCN1 P48444 LBHD1 Homo sapiens Q9BQE6-2 32296183
Intra
ARCN1 P48444 COPB1 Homo sapiens P53618 32296183
Intra
ARCN1 P48444 COPB1 Homo sapiens P53618 32296183
Intra
ARCN1 P48444 COPB1 Homo sapiens P53618 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Short Stature-Micrognathia Syndrome

Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay

SRMMD

SSMG

Parainfluenza Virus Type 3

Human Parainfluenza Virus Type 3

Piv3

Cataract 28

CTRCT28

Cataract, Age-Related Cortical, 1

Arcc1

Cataract 28, Age-Related Cortical, Susceptibility To

Cataract 28, Age-Related Cortical

Age-Related Cortical Cataract 1

Cataract 6, Multiple Types

Ctpp1

Cataract 6 Multiple Types

CTRCT6

Cataract, Posterior Polar, 1

Arcc2

Cataract, Age-Related Cortical, 2

Ctpa

Ctpp

Age Related Cortical Cataract 2

Posterior Polar Cataract 1

Posterior Polar Cataract, 1

Age-Related Cortical Cataract 2

Cataract Posterior Polar 1

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ARCN1 VGNC VGNC:69999
Bos taurus ARCN1 VGNC VGNC:26057
Rattus norvegicus ARCN1 RGD RGD:1359110
Canis familiaris ARCN1 VGNC VGNC:38028
Mus musculus ARCN1 MGD MGI:2387591
Felis catus ARCN1 VGNC VGNC:68008