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O00189

- AP4M1_HUMAN

UniProt

O00189 - AP4M1_HUMAN

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Protein
AP-4 complex subunit mu-1
Gene
AP4M1, MUARP2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Component of the AP-4 complex, a novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. Plays a role in the intracellular trafficking of APP from the trans-Golgi network (TGN) to endosomes, and thereby inhibits amyloidogenic processing of APP.2 Publications

GO - Molecular functioni

  1. transporter activity Source: ProtInc

GO - Biological processi

  1. Golgi to endosome transport Source: UniProtKB
  2. intracellular protein transport Source: UniProtKB
  3. vesicle-mediated transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

SignaLinkiO00189.

Names & Taxonomyi

Protein namesi
Recommended name:
AP-4 complex subunit mu-1
Alternative 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
Name:AP4M1
Synonyms:MUARP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:574. AP4M1.

Subcellular locationi

Golgi apparatustrans-Golgi network. Membranecoated pit
Note: Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.2 Publications

GO - Cellular componenti

  1. AP-type membrane coat adaptor complex Source: ProtInc
  2. Golgi trans cisterna Source: ProtInc
  3. clathrin adaptor complex Source: InterPro
  4. coated pit Source: UniProtKB-SubCell
  5. extracellular vesicular exosome Source: UniProt
  6. trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Coated pit, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:612936]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe mental retardation. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi255 – 2551F → A: Abolishes interaction with APP. 1 Publication
Mutagenesisi283 – 2831R → D: Strongly reduced interaction with APP. 1 Publication

Organism-specific databases

MIMi612936. phenotype.
Orphaneti280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBiPA24866.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 453453AP-4 complex subunit mu-1
PRO_0000193787Add
BLAST

Proteomic databases

MaxQBiO00189.
PaxDbiO00189.
PRIDEiO00189.

PTM databases

PhosphoSiteiO00189.

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in testis and lowly expressed in brain and lung.2 Publications

Gene expression databases

ArrayExpressiO00189.
BgeeiO00189.
CleanExiHS_AP4M1.
GenevestigatoriO00189.

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). Interacts with the C-terminal domain of GRID2 By similarity. Interacts with tyrosine-based sorting signals on the cytoplasmic tail of cargo proteins, such as LAMP2 and APP.3 Publications

Protein-protein interaction databases

BioGridi114616. 7 interactions.
IntActiO00189. 3 interactions.
STRINGi9606.ENSP00000352603.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi186 – 19914
Beta strandi205 – 21814
Beta strandi225 – 2306
Beta strandi235 – 2373
Turni240 – 2423
Beta strandi246 – 25611
Helixi264 – 2674
Beta strandi269 – 2724
Beta strandi276 – 28611
Beta strandi295 – 30410
Turni306 – 3083
Beta strandi309 – 31911
Beta strandi326 – 33510
Beta strandi341 – 3499
Beta strandi353 – 3575
Beta strandi360 – 3656
Beta strandi373 – 3819
Beta strandi405 – 4128
Beta strandi421 – 4277
Beta strandi437 – 45115

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3L81X-ray1.60A160-453[»]
4MDRX-ray1.85A160-453[»]
ProteinModelPortaliO00189.
SMRiO00189. Positions 1-453.

Miscellaneous databases

EvolutionaryTraceiO00189.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini184 – 452269MHD
Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG281769.
HOGENOMiHOG000173245.
HOVERGENiHBG102734.
InParanoidiO00189.
KOiK12402.
PhylomeDBiO00189.
TreeFamiTF329745.

Family and domain databases

InterProiIPR022775. AP_mu_sigma_su.
IPR001392. Clathrin_mu.
IPR008968. Clathrin_mu_C.
IPR018240. Clathrin_mu_CS.
IPR011012. Longin-like_dom.
IPR028565. MHD.
[Graphical view]
PfamiPF00928. Adap_comp_sub. 1 hit.
PF01217. Clat_adaptor_s. 1 hit.
[Graphical view]
PIRSFiPIRSF005992. Clathrin_mu. 1 hit.
PRINTSiPR00314. CLATHRINADPT.
SUPFAMiSSF49447. SSF49447. 1 hit.
SSF64356. SSF64356. 1 hit.
PROSITEiPS00991. CLAT_ADAPTOR_M_2. 1 hit.
PS51072. MHD. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O00189-1 [UniParc]FASTAAdd to Basket

« Hide

MISQFFILSS KGDPLIYKDF RGDSGGRDVA ELFYRKLTGL PGDESPVVMH    50
HHGRHFIHIR HSGLYLVVTT SENVSPFSLL ELLSRLATLL GDYCGSLGEG 100
TISRNVALVY ELLDEVLDYG YVQTTSTEML RNFIQTEAVV SKPFSLFDLS 150
SVGLFGAETQ QSKVAPSSAA SRPVLSSRSD QSQKNEVFLD VVERLSVLIA 200
SNGSLLKVDV QGEIRLKSFL PSGSEMRIGL TEEFCVGKSE LRGYGPGIRV 250
DEVSFHSSVN LDEFESHRIL RLQPPQGELT VMRYQLSDDL PSPLPFRLFP 300
SVQWDRGSGR LQVYLKLRCD LLSKSQALNV RLHLPLPRGV VSLSQELSSP 350
EQKAELAEGA LRWDLPRVQG GSQLSGLFQM DVPGPPGPPS HGLSTSASPL 400
GLGPASLSFE LPRHTCSGLQ VRFLRLAFRP CGNANPHKWV RHLSHSDAYV 450
IRI 453
Length:453
Mass (Da):49,977
Last modified:April 17, 2007 - v2
Checksum:iAE3DCA8C5AED08B7
GO

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti338 – 3381R → G in AAD43328. 1 Publication
Sequence conflicti345 – 3451Q → R in CAA69667. 1 Publication
Sequence conflicti345 – 3451Q → R in AAD25869. 1 Publication
Sequence conflicti400 – 4001L → M in AAD43328. 1 Publication
Sequence conflicti417 – 4171S → C in AAD43328. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS5685.1.
RefSeqiNP_004713.2. NM_004722.3.
UniGeneiHs.632317.

Genome annotation databases

EnsembliENST00000359593; ENSP00000352603; ENSG00000221838.
ENST00000421755; ENSP00000412185; ENSG00000221838.
GeneIDi9179.
KEGGihsa:9179.
UCSCiuc003utb.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.632317.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3L81 X-ray 1.60 A 160-453 [» ]
4MDR X-ray 1.85 A 160-453 [» ]
ProteinModelPortali O00189.
SMRi O00189. Positions 1-453.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114616. 7 interactions.
IntActi O00189. 3 interactions.
STRINGi 9606.ENSP00000352603.

PTM databases

PhosphoSitei O00189.

Proteomic databases

MaxQBi O00189.
PaxDbi O00189.
PRIDEi O00189.

Protocols and materials databases

DNASUi 9179.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000359593 ; ENSP00000352603 ; ENSG00000221838 .
ENST00000421755 ; ENSP00000412185 ; ENSG00000221838 .
GeneIDi 9179.
KEGGi hsa:9179.
UCSCi uc003utb.4. human.

Organism-specific databases

CTDi 9179.
GeneCardsi GC07P099699.
HGNCi HGNC:574. AP4M1.
MIMi 602296. gene.
612936. phenotype.
neXtProti NX_O00189.
Orphaneti 280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBi PA24866.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG281769.
HOGENOMi HOG000173245.
HOVERGENi HBG102734.
InParanoidi O00189.
KOi K12402.
PhylomeDBi O00189.
TreeFami TF329745.

Enzyme and pathway databases

SignaLinki O00189.

Miscellaneous databases

ChiTaRSi AP4M1. human.
EvolutionaryTracei O00189.
GeneWikii AP4M1.
GenomeRNAii 9179.
NextBioi 34413.
PROi O00189.
SOURCEi Search...

Gene expression databases

ArrayExpressi O00189.
Bgeei O00189.
CleanExi HS_AP4M1.
Genevestigatori O00189.

Family and domain databases

InterProi IPR022775. AP_mu_sigma_su.
IPR001392. Clathrin_mu.
IPR008968. Clathrin_mu_C.
IPR018240. Clathrin_mu_CS.
IPR011012. Longin-like_dom.
IPR028565. MHD.
[Graphical view ]
Pfami PF00928. Adap_comp_sub. 1 hit.
PF01217. Clat_adaptor_s. 1 hit.
[Graphical view ]
PIRSFi PIRSF005992. Clathrin_mu. 1 hit.
PRINTSi PR00314. CLATHRINADPT.
SUPFAMi SSF49447. SSF49447. 1 hit.
SSF64356. SSF64356. 1 hit.
PROSITEi PS00991. CLAT_ADAPTOR_M_2. 1 hit.
PS51072. MHD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2."
    Wang X., Kilimann M.W.
    FEBS Lett. 402:57-61(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Brain.
  2. "Characterization of a fourth adaptor-related protein complex."
    Hirst J., Bright N.A., Rous B., Robinson M.S.
    Mol. Biol. Cell 10:2787-2802(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBUNIT, TISSUE SPECIFICITY.
    Tissue: Brain.
  3. "Signal-binding specificity of the mu4 subunit of the adaptor protein complex, AP-4."
    Aguilar R.C., Boehm M., Gorshkova I., Crouch R.J., Tomita K., Saito T., Ohno H., Bonifacino J.S.
    J. Biol. Chem. 276:13145-13152(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBUNIT, INTERACTION WITH LAMP2, SUBCELLULAR LOCATION.
    Tissue: Spleen.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  6. Cited for: INVOLVEMENT IN CPSQ3.
  7. "Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex."
    Burgos P.V., Mardones G.A., Rojas A.L., daSilva L.L., Prabhu Y., Hurley J.H., Bonifacino J.S.
    Dev. Cell 18:425-436(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 160-453 IN COMPLEX WITH APP PEPTIDE, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF PHE-255 AND ARG-283, SUBUNIT.

Entry informationi

Entry nameiAP4M1_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 124 of the entry and version 2 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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