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ARCN1 archain 1 [ Homo sapiens (human) ]

Gene ID: 372, updated on 5-Jan-2020

Summary

Official Symbol
ARCN1provided by HGNC
Official Full Name
archain 1provided by HGNC
Primary source
HGNC:HGNC:649
See related
Ensembl:ENSG00000095139 MIM:600820
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
COPD; SRMMD
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]
Expression
Ubiquitous expression in thyroid (RPKM 45.3), urinary bladder (RPKM 37.0) and 25 other tissues See more
Orthologs

Genomic context

See ARCN1 in Genome Data Viewer
Location:
11q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (118572387..118603033)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118443078..118473748)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929089 Neighboring gene tetratricopeptide repeat domain 36 Neighboring gene transmembrane protein 25 Neighboring gene intraflagellar transport 46 Neighboring gene ribosomal protein L5 pseudogene 30 Neighboring gene RNA, U6 small nuclear 1157, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr11.5498 Neighboring gene pleckstrin homology like domain family B member 1 Neighboring gene microRNA 6716

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
MedGen: C4310686 OMIM: 617164 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2017-08-08)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2017-08-08)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
Golgi localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
cerebellar Purkinje cell layer maturation IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport TAS
Traceable Author Statement
more info
PubMed 
pigmentation IEA
Inferred from Electronic Annotation
more info
 
retrograde vesicle-mediated transport, Golgi to ER IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde vesicle-mediated transport, Golgi to ER TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
COPI vesicle coat IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
COPI vesicle coat ISS
Inferred from Sequence or Structural Similarity
more info
 
COPI-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
transport vesicle TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
coatomer subunit delta
Names
COPI coat complex subunit delta
archain vesicle transport protein 1
coatomer delta subunit
coatomer protein complex, subunit delta
coatomer protein delta-COP
delta-COP
delta-coat protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051953.1 RefSeqGene

    Range
    5023..35647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142281.1NP_001135753.1  coatomer subunit delta isoform 2

    See identical proteins and their annotated locations for NP_001135753.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, and encodes a protein (isoform 2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA856562, AK304019, AU125652, BC080638, BC093636, CR988766, DB216489
    Consensus CDS
    CCDS44749.1
    UniProtKB/Swiss-Prot
    P48444
    Related
    ENSP00000376599.3, ENST00000392859.7
    Conserved Domains (1) summary
    cd09254
    Location:184420
    AP_delta-COPI_MHD; Mu homology domain (MHD) of adaptor protein (AP) coat protein I (COPI) delta subunit
  2. NM_001655.5NP_001646.2  coatomer subunit delta isoform 1

    See identical proteins and their annotated locations for NP_001646.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA856562, AU125652, BC080638, BC093636, CR988766, DB216489
    Consensus CDS
    CCDS8400.1
    UniProtKB/Swiss-Prot
    P48444
    UniProtKB/TrEMBL
    B0YIW5
    Related
    ENSP00000264028.4, ENST00000264028.5
    Conserved Domains (1) summary
    cd09254
    Location:272508
    AP_delta-COPI_MHD; Mu homology domain (MHD) of adaptor protein (AP) coat protein I (COPI) delta subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    118572387..118603033
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271542.4XP_005271599.1  coatomer subunit delta isoform X1

    Conserved Domains (1) summary
    cd09254
    Location:272414
    AP_delta-COPI_MHD; Mu homology domain (MHD) of adaptor protein (AP) coat protein I (COPI) delta subunit
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