Seroatlas · Human Serome Atlas

ARCN1

Coatomer subunit delta

Also known as: COPD, COPD_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P48444
Gene: ARCN1
Ensembl: ENSG00000095139
Chromosome: 11
Canonical length: 511 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Vesicles,Cytosol

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

511 residues, UniProt reviewed canonical sequence.

>P48444|ARCN1
     1  MVLLAAAVCT KAGKAIVSRQ FVEMTRTRIE GLLAAFPKLM NTGKQHTFVE TESVRYVYQP
    61  MEKLYMVLIT TKNSNILEDL ETLRLFSRVI PEYCRALEEN EISEHCFDLI FAFDEIVALG
   121  YRENVNLAQI RTFTEMDSHE EKVFRAVRET QEREAKAEMR RKAKELQQAR RDAERQGKKA
   181  PGFGGFGSSA VSGGSTAAMI TETIIETDKP KVAPAPARPS GPSKALKLGA KGKEVDNFVD
   241  KLKSEGETIM SSSMGKRTSE ATKMHAPPIN MESVHMKIEE KITLTCGRDG GLQNMELHGM
   301  IMLRISDDKY GRIRLHVENE DKKGVQLQTH PNVDKKLFTA ESLIGLKNPE KSFPVNSDVG
   361  VLKWRLQTTE ESFIPLTINC WPSESGNGCD VNIEYELQED NLELNDVVIT IPLPSGVGAP
   421  VIGEIDGEYR HDSRRNTLEW CLPVIDAKNK SGSLEFSIAG QPNDFFPVQV SFVSKKNYCN
   481  IQVTKVTQVD GNSPVRFSTE TTFLVDKYEI L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARCN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.37
Highest tissue expression: 109 nTPM

Expression across tissuesHPA

Tissue

pancreas: 109 nTPM
epididymis: 105 nTPM
blood vessel: 87 nTPM
pituitary gland: 84 nTPM
choroid plexus: 84 nTPM
liver: 83 nTPM

Single-cell type

megakaryocytes: 142 nCPM
plasma cells: 125 nCPM
pancreatic acinar cells: 117 nCPM
adrenal medulla cells: 96 nCPM
goblet cells: 96 nCPM
esophageal apical cells: 94 nCPM

Immune cell

basophil: 99 nTPM
MAIT T-cell: 61 nTPM
non-classical monocyte: 58 nTPM
NK-cell: 58 nTPM
intermediate monocyte: 54 nTPM
total PBMC: 52 nTPM

Brain region

choroid plexus: 83 nTPM
white matter: 72 nTPM
medulla oblongata: 63 nTPM
midbrain: 62 nTPM
cerebellum: 62 nTPM
thalamus: 62 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARCN1.

Disease | AllUniProt

Conditions ARCN1 is implicated in, by any mechanism.

Short stature-micrognathia syndrome (SSMG) MIM:617164

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 327 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
ARCN1-related disorder
Inborn genetic diseases
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.1
gnomAD pLI: 1
gnomAD missense Z: 2.08
DepMap mean gene effect: -1.45
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

RNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ARCN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ARCN1 as an antibody target. Whether an autoantibody or antibody against ARCN1 could matter depends on whether native ARCN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARCN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ARCN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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