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Protein

Coatomer subunit delta

Gene

ARCN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processER-Golgi transport, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
SignaLinkiP48444

Names & Taxonomyi

Protein namesi
Recommended name:
Coatomer subunit delta
Alternative name(s):
Archain
Delta-coat protein
Short name:
Delta-COP
Gene namesi
Name:ARCN1
Synonyms:COPD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000095139.13
HGNCiHGNC:649 ARCN1
MIMi600820 gene
neXtProtiNX_P48444

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (SRMMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. the skeletal phenotype, that characterizes this disorder, may be due to defective type I collagen transport and reduction of collagen secretion.1 Publication
Disease descriptionA disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay.
See also OMIM:617164

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNETi372
MalaCardsiARCN1
MIMi617164 phenotype
OpenTargetsiENSG00000095139
PharmGKBiPA24931

Polymorphism and mutation databases

BioMutaiARCN1
DMDMi1351970

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001938412 – 511Coatomer subunit deltaAdd BLAST510

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei223PhosphoserineCombined sources1
Modified residuei233N6-acetyllysineCombined sources1
Modified residuei241N6-acetyllysineBy similarity1
Modified residuei244PhosphoserineCombined sources1
Modified residuei309N6-acetyllysineCombined sources1
Modified residuei351N6-acetyllysineBy similarity1
Modified residuei493PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP48444
MaxQBiP48444
PaxDbiP48444
PeptideAtlasiP48444
PRIDEiP48444
ProteomicsDBi55891

2D gel databases

OGPiP48444

PTM databases

iPTMnetiP48444
PhosphoSitePlusiP48444
SwissPalmiP48444

Expressioni

Tissue specificityi

Ubiquitously expressed.

Gene expression databases

BgeeiENSG00000095139 Expressed in 236 organ(s), highest expression level in pituitary gland
CleanExiHS_ARCN1
ExpressionAtlasiP48444 baseline and differential
GenevisibleiP48444 HS

Organism-specific databases

HPAiHPA037573
HPA044874

Interactioni

Subunit structurei

Oligomeric complex that consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits.

Protein-protein interaction databases

BioGridi106867, 45 interactors
DIPiDIP-50375N
IntActiP48444, 31 interactors
MINTiP48444
STRINGi9606.ENSP00000264028

Structurei

3D structure databases

ProteinModelPortaliP48444
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini271 – 511MHDPROSITE-ProRule annotationAdd BLAST241

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2635 Eukaryota
ENOG410XRH2 LUCA
GeneTreeiENSGT00390000017207
HOGENOMiHOG000203984
HOVERGENiHBG005381
InParanoidiP48444
KOiK20471
PhylomeDBiP48444
TreeFamiTF105760

Family and domain databases

InterProiView protein in InterPro
IPR036168 AP2_Mu_C_sf
IPR022775 AP_mu_sigma_su
IPR027059 Coatomer_dsu
IPR011012 Longin-like_dom_sf
IPR028565 MHD
PANTHERiPTHR10121 PTHR10121, 1 hit
PfamiView protein in Pfam
PF00928 Adap_comp_sub, 1 hit
PF01217 Clat_adaptor_s, 1 hit
SUPFAMiSSF49447 SSF49447, 1 hit
SSF64356 SSF64356, 1 hit
PROSITEiView protein in PROSITE
PS51072 MHD, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48444-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVLLAAAVCT KAGKAIVSRQ FVEMTRTRIE GLLAAFPKLM NTGKQHTFVE
60 70 80 90 100
TESVRYVYQP MEKLYMVLIT TKNSNILEDL ETLRLFSRVI PEYCRALEEN
110 120 130 140 150
EISEHCFDLI FAFDEIVALG YRENVNLAQI RTFTEMDSHE EKVFRAVRET
160 170 180 190 200
QEREAKAEMR RKAKELQQAR RDAERQGKKA PGFGGFGSSA VSGGSTAAMI
210 220 230 240 250
TETIIETDKP KVAPAPARPS GPSKALKLGA KGKEVDNFVD KLKSEGETIM
260 270 280 290 300
SSSMGKRTSE ATKMHAPPIN MESVHMKIEE KITLTCGRDG GLQNMELHGM
310 320 330 340 350
IMLRISDDKY GRIRLHVENE DKKGVQLQTH PNVDKKLFTA ESLIGLKNPE
360 370 380 390 400
KSFPVNSDVG VLKWRLQTTE ESFIPLTINC WPSESGNGCD VNIEYELQED
410 420 430 440 450
NLELNDVVIT IPLPSGVGAP VIGEIDGEYR HDSRRNTLEW CLPVIDAKNK
460 470 480 490 500
SGSLEFSIAG QPNDFFPVQV SFVSKKNYCN IQVTKVTQVD GNSPVRFSTE
510
TTFLVDKYEI L
Length:511
Mass (Da):57,210
Last modified:February 1, 1996 - v1
Checksum:i4ED1F7D2D12A7F75
GO
Isoform 2 (identifier: P48444-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-89: MVLLAAAVCT...LETLRLFSRV → M

Note: No experimental confirmation available.
Show »
Length:423
Mass (Da):47,205
Checksum:iD3688717D77E2AD2
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6P1Q5Q6P1Q5_HUMAN
Coatomer subunit delta
ARCN1
189Annotation score:
E9PK34E9PK34_HUMAN
Coatomer subunit delta
ARCN1
83Annotation score:
B0YIW6B0YIW6_HUMAN
Archain 1, isoform CRA_a
ARCN1 hCG_40220
552Annotation score:

Sequence cautioni

The sequence CAA57072 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti387N → D in BAG64934 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011788186F → L. Corresponds to variant dbSNP:rs682327Ensembl.1
Natural variantiVAR_011789309K → N. Corresponds to variant dbSNP:rs1063124Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0456361 – 89MVLLA…LFSRV → M in isoform 2. 1 PublicationAdd BLAST89

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X81197 mRNA Translation: CAA57071.1
X81198 mRNA Translation: CAA57072.1 Different initiation.
AK304019 mRNA Translation: BAG64934.1
AP000941 Genomic DNA No translation available.
BC093636 mRNA Translation: AAH93636.1
BC093638 mRNA Translation: AAH93638.1
CCDSiCCDS44749.1 [P48444-2]
CCDS8400.1 [P48444-1]
PIRiA56750
RefSeqiNP_001135753.1, NM_001142281.1 [P48444-2]
NP_001646.2, NM_001655.4 [P48444-1]
UniGeneiHs.33642

Genome annotation databases

EnsembliENST00000264028; ENSP00000264028; ENSG00000095139 [P48444-1]
ENST00000392859; ENSP00000376599; ENSG00000095139 [P48444-2]
GeneIDi372
KEGGihsa:372
UCSCiuc001ptq.4 human [P48444-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X81197 mRNA Translation: CAA57071.1
X81198 mRNA Translation: CAA57072.1 Different initiation.
AK304019 mRNA Translation: BAG64934.1
AP000941 Genomic DNA No translation available.
BC093636 mRNA Translation: AAH93636.1
BC093638 mRNA Translation: AAH93638.1
CCDSiCCDS44749.1 [P48444-2]
CCDS8400.1 [P48444-1]
PIRiA56750
RefSeqiNP_001135753.1, NM_001142281.1 [P48444-2]
NP_001646.2, NM_001655.4 [P48444-1]
UniGeneiHs.33642

3D structure databases

ProteinModelPortaliP48444
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106867, 45 interactors
DIPiDIP-50375N
IntActiP48444, 31 interactors
MINTiP48444
STRINGi9606.ENSP00000264028

PTM databases

iPTMnetiP48444
PhosphoSitePlusiP48444
SwissPalmiP48444

Polymorphism and mutation databases

BioMutaiARCN1
DMDMi1351970

2D gel databases

OGPiP48444

Proteomic databases

EPDiP48444
MaxQBiP48444
PaxDbiP48444
PeptideAtlasiP48444
PRIDEiP48444
ProteomicsDBi55891

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264028; ENSP00000264028; ENSG00000095139 [P48444-1]
ENST00000392859; ENSP00000376599; ENSG00000095139 [P48444-2]
GeneIDi372
KEGGihsa:372
UCSCiuc001ptq.4 human [P48444-1]

Organism-specific databases

CTDi372
DisGeNETi372
EuPathDBiHostDB:ENSG00000095139.13
GeneCardsiARCN1
HGNCiHGNC:649 ARCN1
HPAiHPA037573
HPA044874
MalaCardsiARCN1
MIMi600820 gene
617164 phenotype
neXtProtiNX_P48444
OpenTargetsiENSG00000095139
PharmGKBiPA24931
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2635 Eukaryota
ENOG410XRH2 LUCA
GeneTreeiENSGT00390000017207
HOGENOMiHOG000203984
HOVERGENiHBG005381
InParanoidiP48444
KOiK20471
PhylomeDBiP48444
TreeFamiTF105760

Enzyme and pathway databases

ReactomeiR-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
SignaLinkiP48444

Miscellaneous databases

ChiTaRSiARCN1 human
GenomeRNAii372
PROiPR:P48444
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000095139 Expressed in 236 organ(s), highest expression level in pituitary gland
CleanExiHS_ARCN1
ExpressionAtlasiP48444 baseline and differential
GenevisibleiP48444 HS

Family and domain databases

InterProiView protein in InterPro
IPR036168 AP2_Mu_C_sf
IPR022775 AP_mu_sigma_su
IPR027059 Coatomer_dsu
IPR011012 Longin-like_dom_sf
IPR028565 MHD
PANTHERiPTHR10121 PTHR10121, 1 hit
PfamiView protein in Pfam
PF00928 Adap_comp_sub, 1 hit
PF01217 Clat_adaptor_s, 1 hit
SUPFAMiSSF49447 SSF49447, 1 hit
SSF64356 SSF64356, 1 hit
PROSITEiView protein in PROSITE
PS51072 MHD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCOPD_HUMAN
AccessioniPrimary (citable) accession number: P48444
Secondary accession number(s): B4E1X2, E9PEU4, Q52M80
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: November 7, 2018
This is version 164 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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