• Gene id: 372

Gene Summary

• Gene Symbol: ARCN1   Gene   UCSC   Ensembl
• Aliases: COPD, SRMMD
• Gene name: archain 1
• Alternate names: coatomer subunit delta, 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,
• Gene location: 11q23.3 (118572386: 118603032)     Exons: 10     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 600820

SNPs

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

Protein Summary

• Protein general information: P48444  
  • Name: Coatomer subunit delta (Archain) (Delta coat protein) (Delta COP)
  • Length: 511  
  • Mass: 57210
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MVLLAAAVCTKAGKAIVSRQFVEMTRTRIEGLLAAFPKLMNTGKQHTFVETESVRYVYQPMEKLYMVLITTKNSN
  ILEDLETLRLFSRVIPEYCRALEENEISEHCFDLIFAFDEIVALGYRENVNLAQIRTFTEMDSHEEKVFRAVRET
  QEREAKAEMRRKAKELQQARRDAERQGKKAPGFGGFGSSAVSGGSTAAMITETIIETDKPKVAPAPARPSGPSKA
  LKLGAKGKEVDNFVDKLKSEGETIMSSSMGKRTSEATKMHAPPINMESVHMKIEEKITLTCGRDGGLQNMELHGM
  IMLRISDDKYGRIRLHVENEDKKGVQLQTHPNVDKKLFTAESLIGLKNPEKSFPVNSDVGVLKWRLQTTEESFIP
  LTINCWPSESGNGCDVNIEYELQEDNLELNDVVITIPLPSGVGAPVIGEIDGEYRHDSRRNTLEWCLPVIDAKNK
  SGSLEFSIAGQPNDFFPVQVSFVSKKNYCNIQVTKVTQVDGNSPVRFSTETTFLVDKYEIL

• Structural information:
  • Protein Domains: (271..51-)
    (/note="MHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00404"-)
  • Interpro: IPR036168  IPR022775  IPR027059  IPR011012  IPR028565  
  • Prosite: PS51072
  • DIP: 50375
  • STRING: ENSP00000264028
• Other Databases: GeneCards:  ARCN1  Malacards:  ARCN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051645	Golgi localization	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0030137	COPI-coated vesicle	IBA	cellular component
GO:0030126	COPI vesicle coat	IBA	cellular component
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA	biological process
GO:0030126	COPI vesicle coat	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006886	intracellular protein transport	TAS	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0021691	cerebellar Purkinje cell layer maturation	IEA	biological process
GO:0030137	COPI-coated vesicle	IEA	cellular component
GO:0043473	pigmentation	IEA	biological process
GO:0048193	Golgi vesicle transport	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030663	COPI-coated vesicle membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0030126	COPI vesicle coat	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881