UniProtKB - O00189 (AP4M1_HUMAN)
AP-4 complex subunit mu-1
AP4M1
Functioni
GO - Molecular functioni
- protein domain specific binding Source: UniProtKB
GO - Biological processi
- Golgi to endosome transport Source: UniProtKB
- Golgi to lysosome transport Source: UniProtKB
- intracellular protein transport Source: UniProtKB
- protein localization Source: UniProtKB
- protein localization to basolateral plasma membrane Source: UniProtKB
- protein targeting Source: UniProtKB
- protein targeting to lysosome Source: UniProtKB
- vesicle-mediated transport Source: GO_Central
Keywordsi
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | O00189 |
Reactomei | R-HSA-432720, Lysosome Vesicle Biogenesis |
SignaLinki | O00189 |
Protein family/group databases
TCDBi | 9.B.278.1.5, the organellar-targeting adaptor protein complex (o-apc) family |
Names & Taxonomyi
Protein namesi | Recommended name: AP-4 complex subunit mu-1CuratedAlternative name(s): AP-4 adaptor complex mu subunit Adaptor-related protein complex 4 subunit mu-1 Mu subunit of AP-4 Mu-adaptin-related protein 2 Short name: mu-ARP2 Mu4-adaptin Short name: mu4 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000221838.9 |
HGNCi | HGNC:574, AP4M1 |
MIMi | 602296, gene |
neXtProti | NX_O00189 |
Subcellular locationi
Golgi apparatus
- trans-Golgi network membrane 1 Publication; Peripheral membrane protein Curated
Endosome
- Early endosome 1 Publication
Note: Found in soma and dendritic shafts of neuronal cells.By similarity
Cytosol
- cytosol Source: GOC
Endosome
- early endosome Source: UniProtKB
- endosome lumen Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- trans-Golgi network Source: UniProtKB
- trans-Golgi network membrane Source: Reactome
Other locations
- AP-4 adaptor complex Source: UniProtKB
- clathrin adaptor complex Source: InterPro
- cytoplasmic vesicle Source: GO_Central
- intracellular membrane-bounded organelle Source: GO_Central
Keywords - Cellular componenti
Endosome, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Spastic paraplegia 50, autosomal recessive (SPG50)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 255 | F → A: Abolishes interaction with APP. 1 Publication | 1 | |
Mutagenesisi | 283 | R → D: Strongly reduced interaction with APP. 1 Publication | 1 |
Keywords - Diseasei
Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNETi | 9179 |
MalaCardsi | AP4M1 |
MIMi | 612936, phenotype |
OpenTargetsi | ENSG00000221838 |
Orphaneti | 280763, Severe intellectual disability and progressive spastic paraplegia |
PharmGKBi | PA24866 |
Miscellaneous databases
Pharosi | O00189, Tbio |
Polymorphism and mutation databases
BioMutai | AP4M1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000193787 | 1 – 453 | AP-4 complex subunit mu-1Add BLAST | 453 |
Proteomic databases
EPDi | O00189 |
jPOSTi | O00189 |
MassIVEi | O00189 |
MaxQBi | O00189 |
PaxDbi | O00189 |
PeptideAtlasi | O00189 |
PRIDEi | O00189 |
ProteomicsDBi | 47769 |
TopDownProteomicsi | O00189 |
PTM databases
iPTMneti | O00189 |
PhosphoSitePlusi | O00189 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000221838, Expressed in right testis and 153 other tissues |
ExpressionAtlasi | O00189, baseline and differential |
Genevisiblei | O00189, HS |
Organism-specific databases
HPAi | ENSG00000221838, Low tissue specificity |
Interactioni
Subunit structurei
Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1) (PubMed:10436028, PubMed:10066790, PubMed:11802162).
Interacts with tyrosine-based sorting signals on the cytoplasmic tail of cargo proteins such as APP, LAMP2 and NAGPA (PubMed:11139587, PubMed:26544806, PubMed:20230749).
Interacts with the C-terminal domain of GRID2 (By similarity).
Interacts with GRIA1 and GRIA2; the interaction is indirect via CACNG3 (By similarity).
Interacts with CACNG3; CACNG3 associates GRIA1 and GRIA2 with the adaptor protein complex 4 (AP-4) to target them to the somatodendritic compartment of neurons (By similarity).
By similarity6 PublicationsBinary interactionsi
Hide detailsO00189
With | #Exp. | IntAct |
---|---|---|
FNTA [P49354] | 3 | EBI-3914106,EBI-602336 |
USP47 [Q96K76] | 3 | EBI-3914106,EBI-2514143 |
USP47 - isoform 3 [Q96K76-3] | 3 | EBI-3914106,EBI-12313025 |
GO - Molecular functioni
- protein domain specific binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 114616, 38 interactors |
ComplexPortali | CPX-5151, AP-4 Adaptor complex |
CORUMi | O00189 |
IntActi | O00189, 32 interactors |
MINTi | O00189 |
STRINGi | 9606.ENSP00000352603 |
Miscellaneous databases
RNActi | O00189, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O00189 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O00189 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 184 – 452 | MHDPROSITE-ProRule annotationAdd BLAST | 269 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0937, Eukaryota |
GeneTreei | ENSGT00940000159929 |
InParanoidi | O00189 |
PhylomeDBi | O00189 |
TreeFami | TF329745 |
Family and domain databases
InterProi | View protein in InterPro IPR036168, AP2_Mu_C_sf IPR022775, AP_mu_sigma_su IPR001392, Clathrin_mu IPR018240, Clathrin_mu_CS IPR011012, Longin-like_dom_sf IPR028565, MHD |
Pfami | View protein in Pfam PF00928, Adap_comp_sub, 1 hit PF01217, Clat_adaptor_s, 1 hit |
PIRSFi | PIRSF005992, Clathrin_mu, 1 hit |
PRINTSi | PR00314, CLATHRINADPT |
SUPFAMi | SSF49447, SSF49447, 1 hit SSF64356, SSF64356, 1 hit |
PROSITEi | View protein in PROSITE PS00991, CLAT_ADAPTOR_M_2, 1 hit PS51072, MHD, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 10 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MISQFFILSS KGDPLIYKDF RGDSGGRDVA ELFYRKLTGL PGDESPVVMH
60 70 80 90 100
HHGRHFIHIR HSGLYLVVTT SENVSPFSLL ELLSRLATLL GDYCGSLGEG
110 120 130 140 150
TISRNVALVY ELLDEVLDYG YVQTTSTEML RNFIQTEAVV SKPFSLFDLS
160 170 180 190 200
SVGLFGAETQ QSKVAPSSAA SRPVLSSRSD QSQKNEVFLD VVERLSVLIA
210 220 230 240 250
SNGSLLKVDV QGEIRLKSFL PSGSEMRIGL TEEFCVGKSE LRGYGPGIRV
260 270 280 290 300
DEVSFHSSVN LDEFESHRIL RLQPPQGELT VMRYQLSDDL PSPLPFRLFP
310 320 330 340 350
SVQWDRGSGR LQVYLKLRCD LLSKSQALNV RLHLPLPRGV VSLSQELSSP
360 370 380 390 400
EQKAELAEGA LRWDLPRVQG GSQLSGLFQM DVPGPPGPPS HGLSTSASPL
410 420 430 440 450
GLGPASLSFE LPRHTCSGLQ VRFLRLAFRP CGNANPHKWV RHLSHSDAYV
IRI
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JC87 | C9JC87_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 460 | Annotation score: | ||
C9IZL5 | C9IZL5_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 325 | Annotation score: | ||
C9JWL4 | C9JWL4_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 311 | Annotation score: | ||
H7BZV3 | H7BZV3_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 160 | Annotation score: | ||
C9JMG3 | C9JMG3_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 265 | Annotation score: | ||
F8WCR6 | F8WCR6_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 218 | Annotation score: | ||
H0Y6K1 | H0Y6K1_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 193 | Annotation score: | ||
H7C0A0 | H7C0A0_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 138 | Annotation score: | ||
F8WCC5 | F8WCC5_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 97 | Annotation score: | ||
F8WDR3 | F8WDR3_HUMAN | AP-4 complex subunit mu-1 | AP4M1 | 64 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 338 | R → G in AAD43328 (PubMed:10436028).Curated | 1 | |
Sequence conflicti | 345 | Q → R in CAA69667 (PubMed:9013859).Curated | 1 | |
Sequence conflicti | 345 | Q → R in AAD25869 (PubMed:11139587).Curated | 1 | |
Sequence conflicti | 400 | L → M in AAD43328 (PubMed:10436028).Curated | 1 | |
Sequence conflicti | 417 | S → C in AAD43328 (PubMed:10436028).Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y08387 mRNA Translation: CAA69667.1 AF155158 mRNA Translation: AAD43328.1 AF020796 mRNA Translation: AAD25869.1 CH471091 Genomic DNA Translation: EAW76594.1 CH471091 Genomic DNA Translation: EAW76597.1 BC018705 mRNA Translation: AAH18705.1 |
CCDSi | CCDS5685.1 |
RefSeqi | NP_004713.2, NM_004722.3 |
Genome annotation databases
Ensembli | ENST00000359593; ENSP00000352603; ENSG00000221838 ENST00000421755; ENSP00000412185; ENSG00000221838 |
GeneIDi | 9179 |
KEGGi | hsa:9179 |
UCSCi | uc003utb.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y08387 mRNA Translation: CAA69667.1 AF155158 mRNA Translation: AAD43328.1 AF020796 mRNA Translation: AAD25869.1 CH471091 Genomic DNA Translation: EAW76594.1 CH471091 Genomic DNA Translation: EAW76597.1 BC018705 mRNA Translation: AAH18705.1 |
CCDSi | CCDS5685.1 |
RefSeqi | NP_004713.2, NM_004722.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3L81 | X-ray | 1.60 | A | 160-453 | [»] | |
4MDR | X-ray | 1.85 | A | 160-453 | [»] | |
SMRi | O00189 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114616, 38 interactors |
ComplexPortali | CPX-5151, AP-4 Adaptor complex |
CORUMi | O00189 |
IntActi | O00189, 32 interactors |
MINTi | O00189 |
STRINGi | 9606.ENSP00000352603 |
Protein family/group databases
TCDBi | 9.B.278.1.5, the organellar-targeting adaptor protein complex (o-apc) family |
PTM databases
iPTMneti | O00189 |
PhosphoSitePlusi | O00189 |
Polymorphism and mutation databases
BioMutai | AP4M1 |
Proteomic databases
EPDi | O00189 |
jPOSTi | O00189 |
MassIVEi | O00189 |
MaxQBi | O00189 |
PaxDbi | O00189 |
PeptideAtlasi | O00189 |
PRIDEi | O00189 |
ProteomicsDBi | 47769 |
TopDownProteomicsi | O00189 |
Protocols and materials databases
Antibodypediai | 30540, 171 antibodies |
DNASUi | 9179 |
Genome annotation databases
Ensembli | ENST00000359593; ENSP00000352603; ENSG00000221838 ENST00000421755; ENSP00000412185; ENSG00000221838 |
GeneIDi | 9179 |
KEGGi | hsa:9179 |
UCSCi | uc003utb.5, human |
Organism-specific databases
CTDi | 9179 |
DisGeNETi | 9179 |
EuPathDBi | HostDB:ENSG00000221838.9 |
GeneCardsi | AP4M1 |
HGNCi | HGNC:574, AP4M1 |
HPAi | ENSG00000221838, Low tissue specificity |
MalaCardsi | AP4M1 |
MIMi | 602296, gene 612936, phenotype |
neXtProti | NX_O00189 |
OpenTargetsi | ENSG00000221838 |
Orphaneti | 280763, Severe intellectual disability and progressive spastic paraplegia |
PharmGKBi | PA24866 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0937, Eukaryota |
GeneTreei | ENSGT00940000159929 |
InParanoidi | O00189 |
PhylomeDBi | O00189 |
TreeFami | TF329745 |
Enzyme and pathway databases
PathwayCommonsi | O00189 |
Reactomei | R-HSA-432720, Lysosome Vesicle Biogenesis |
SignaLinki | O00189 |
Miscellaneous databases
BioGRID-ORCSi | 9179, 5 hits in 851 CRISPR screens |
ChiTaRSi | AP4M1, human |
EvolutionaryTracei | O00189 |
GeneWikii | AP4M1 |
GenomeRNAii | 9179 |
Pharosi | O00189, Tbio |
PROi | PR:O00189 |
RNActi | O00189, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000221838, Expressed in right testis and 153 other tissues |
ExpressionAtlasi | O00189, baseline and differential |
Genevisiblei | O00189, HS |
Family and domain databases
InterProi | View protein in InterPro IPR036168, AP2_Mu_C_sf IPR022775, AP_mu_sigma_su IPR001392, Clathrin_mu IPR018240, Clathrin_mu_CS IPR011012, Longin-like_dom_sf IPR028565, MHD |
Pfami | View protein in Pfam PF00928, Adap_comp_sub, 1 hit PF01217, Clat_adaptor_s, 1 hit |
PIRSFi | PIRSF005992, Clathrin_mu, 1 hit |
PRINTSi | PR00314, CLATHRINADPT |
SUPFAMi | SSF49447, SSF49447, 1 hit SSF64356, SSF64356, 1 hit |
PROSITEi | View protein in PROSITE PS00991, CLAT_ADAPTOR_M_2, 1 hit PS51072, MHD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AP4M1_HUMAN | |
Accessioni | O00189Primary (citable) accession number: O00189 Secondary accession number(s): D6W5U1, Q8WV65, Q9UHK9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | April 17, 2007 | |
Last modified: | December 2, 2020 | |
This is version 168 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families