AP-4 complex subunit mu-1 - Homo sapiens (Human)

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O00189 (AP4M1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 102. History...

Clusters with 100%, 90%, 50% identity |

Documents (4) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
AP-4 complex subunit mu-1

Alternative name(s):
AP-4 adapter complex mu subunit
Adapter-related protein complex 4 mu-1 subunit
Mu subunit of AP-4
Mu-adaptin-related protein 2
Short name=mu-ARP2
Mu4-adaptin
Short name=mu4

Gene names

Name:	AP4M1
Synonyms:	MUARP2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	453 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Subunit of 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.
Subunit structure	Adapter-like complex 4 (AP-4) is an 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.
Subcellular location	Golgi apparatus › trans-Golgi network. Membrane › coated pit. Note: Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.
Tissue specificity	Ubiquitous. Highly expressed in testis and lowly expressed in brain and lung.
Domain	Interacts specifically with tyrosine-based sorting signals.
Involvement in disease	Defects in AP4M1 are the cause of cerebral palsy spastic quadriplegic type 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. Ref.7
Sequence similarities	Belongs to the adaptor complexes medium subunit family. Contains 1 MHD (mu homology) domain.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Coated pit Golgi apparatus Membrane
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	intracellular protein transport Inferred from electronic annotation. Source: InterPro vesicle-mediated transport Traceable author statement. Source: ProtInc
Cellular component	Golgi trans cisterna Traceable author statement. Source: ProtInc clathrin adaptor complex Inferred from electronic annotation. Source: InterPro coated pit Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	transporter activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 453

453

AP-4 complex subunit mu-1

PRO_0000193787

Regions

Domain

181 – 453

273

MHD

Amino acid modifications

Modified residue

342

Phosphoserine Ref.6

Experimental info

Sequence conflict

338

R → G in AAD43328. Ref.2

Sequence conflict

345

Q → R in CAA69667. Ref.1

Sequence conflict

345

Q → R in AAD25869. Ref.3

Sequence conflict

400

L → M in AAD43328. Ref.2

Sequence conflict

417

S → C in AAD43328. Ref.2

Secondary structure

453

Helix Strand Turn

Details...

Sequences

Sequence

Length

Mass (Da)

Tools

O00189 [UniParc].

Last modified April 17, 2007. Version 2.
Checksum: AE3DCA8C5AED08B7
Show »

FASTA

453

49,977

        10         20         30         40         50         60 
MISQFFILSS KGDPLIYKDF RGDSGGRDVA ELFYRKLTGL PGDESPVVMH HHGRHFIHIR 

        70         80         90        100        110        120 
HSGLYLVVTT SENVSPFSLL ELLSRLATLL GDYCGSLGEG TISRNVALVY ELLDEVLDYG 

       130        140        150        160        170        180 
YVQTTSTEML RNFIQTEAVV SKPFSLFDLS SVGLFGAETQ QSKVAPSSAA SRPVLSSRSD 

       190        200        210        220        230        240 
QSQKNEVFLD VVERLSVLIA SNGSLLKVDV QGEIRLKSFL PSGSEMRIGL TEEFCVGKSE 

       250        260        270        280        290        300 
LRGYGPGIRV DEVSFHSSVN LDEFESHRIL RLQPPQGELT VMRYQLSDDL PSPLPFRLFP 

       310        320        330        340        350        360 
SVQWDRGSGR LQVYLKLRCD LLSKSQALNV RLHLPLPRGV VSLSQELSSP EQKAELAEGA 

       370        380        390        400        410        420 
LRWDLPRVQG GSQLSGLFQM DVPGPPGPPS HGLSTSASPL GLGPASLSFE LPRHTCSGLQ 

       430        440        450 
VRFLRLAFRP CGNANPHKWV RHLSHSDAYV IRI

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 9013859] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. 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: 10436028] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. 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: 11139587] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION. Tissue: Spleen.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[6]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-342, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy." Verkerk A.J., Schot R., Dumee B., Schellekens K., Swagemakers S., Bertoli-Avella A.M., Lequin M.H., Dudink J., Govaert P., van Zwol A.L., Hirst J., Wessels M.W., Catsman-Berrevoets C., Verheijen F.W., de Graaff E., de Coo I.F., Kros J.M., Willemsen R. , Willems P.J., van der Spek P.J., Mancini G.M. Am. J. Hum. Genet. 85:40-52(2009) [PubMed: 19559397] [Abstract] Cited for: INVOLVEMENT IN CPSQ3.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00103040.

RefSeq

NP_004713.2. NM_004722.3.

UniGene

Hs.632317.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3L81	X-ray	1.60	A	160-453	[»]

ProteinModelPortal

O00189.

SMR

O00189. Positions 1-453.

ModBase

Search...

Protein-protein interaction databases

IntAct

O00189. 3 interactions.

STRING

O00189.

PTM databases

PhosphoSite

O00189.

Proteomic databases

PRIDE

O00189.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000359593; ENSP00000352603; ENSG00000221838.
ENST00000421755; ENSP00000412185; ENSG00000221838.

GeneID

9179.

KEGG

hsa:9179.

UCSC

uc003utb.2. human.

Organism-specific databases

CTD

9179.

GeneCards

GC07P099699.

H-InvDB

HIX0006908.

HGNC

HGNC:574. AP4M1.

MIM

602296. gene.
612936. phenotype.

neXtProt

NX_O00189.

Orphanet

210141. Congenital spastic tetraplegia.

PharmGKB

PA24866.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG15933.

GeneTree

ENSGT00530000062779.

HOVERGEN

HBG102734.

InParanoid

O00189.

PhylomeDB

O00189.

Gene expression databases

ArrayExpress

O00189.

Bgee

O00189.

CleanEx

HS_AP4M1.

Genevestigator

O00189.

GermOnline

ENSG00000206580. Homo sapiens.

Family and domain databases

InterPro

IPR022775. AP_mu_sigma_su.
IPR001392. Clathrin_mu.
IPR008968. Clathrin_mu_C.
IPR018240. Clathrin_mu_CS.
IPR011012. Longin-like.
[Graphical view]

K12402.

Pfam

PF00928. Adap_comp_sub. 1 hit.
PF01217. Clat_adaptor_s. 1 hit.
[Graphical view]

PIRSF

PIRSF005992. Clathrin_mu. 1 hit.

PRINTS

PR00314. CLATHRINADPT.

SUPFAM

SSF49447. AP50. 1 hit.
SSF64356. Longin_like. 1 hit.

PROSITE

PS00990. CLAT_ADAPTOR_M_1. False negative.
PS00991. CLAT_ADAPTOR_M_2. 1 hit.
PS51072. MHD. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

34413.

SOURCE

Search...

Entry information

Entry name

AP4M1_HUMAN

Accession

Primary (citable) accession number: O00189
Secondary accession number(s): D6W5U1, Q8WV65, Q9UHK9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	April 17, 2007
Last modified:	January 25, 2012
This is version 102 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.

Relevant documents

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

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Experimental info

Secondary structure

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents