(data stored in ACNUC13676 zone)

HOGENOM: HS7_PE2679

ID   HS7_PE2679                           STANDARD;      PRT;   453 AA.
AC   HS7_PE2679; O00189; D6W5U1; Q8WV65; Q9UHK9;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=AP-4 complex subunit mu-1;AltName: Full=AP-4 adapter
DE   complex mu subunit;AltName: Full=Adapter-related protein complex 4 mu-1
DE   subunit;AltName: Full=Mu subunit of AP-4;AltName: Full=Mu-adaptin-related
DE   protein 2; Short=mu-ARP2;AltName: Full=Mu4-adaptin; Short=mu4;
DE   (HS7.PE2679).
GN   Name=AP4M1; Synonyms=MUARP2;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS7.PE2679.
CC       Homo sapiens chromosome 7 GRCh37  sequence 1..159128663 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:AP4M1_HUMAN
CC   -!- FUNCTION: Subunit of novel type of clathrin- or non-clathrin-
CC       associated protein coat involved in targeting proteins from the
CC       trans-Golgi network (TGN) to the endosomal-lysosomal system.
CC   -!- SUBUNIT: Adapter-like complex 4 (AP-4) is an heterotetramer
CC       composed of two large adaptins (epsilon-type subunit AP4E1 and
CC       beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1)
CC       and a small adaptin (sigma-type AP4S1). Interacts with the C-
CC       terminal domain of GRID2 (By similarity).
CC   -!- SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network.
CC       Membrane, coated pit. Note=Associated with the trans-Golgi
CC       network. Found in soma and dendritic shafts of neuronal cells.
CC   -!- TISSUE SPECIFICITY: Ubiquitous. Highly expressed in testis and
CC       lowly expressed in brain and lung.
CC   -!- DOMAIN: Interacts specifically with tyrosine-based sorting
CC       signals.
CC   -!- DISEASE: Defects in AP4M1 are the cause of cerebral palsy spastic
CC       quadriplegic type 3 (CPSQ3) [MIM:612936]. A non-progressive
CC       disorder of movement and/or posture resulting from defects in the
CC       developing central nervous system. Affected individuals present
CC       postnatally with early infantile hypotonia, delayed psychomotor
CC       development, strabismus, lack of independent walking and severe
CC       mental retardation. They develop progressive spasticity of all
CC       limbs with generalized hypertonia, hyperreflexia, and extensor
CC       plantar responses by the end of the first year of life. Speech is
CC       absent or limited. Pseudobulbar signs, such as drooling,
CC       stereotypic laughter, and exaggerated jaw jerk, are part of the
CC       clinical picture.
CC   -!- SIMILARITY: Belongs to the adaptor complexes medium subunit
CC       family.
CC   -!- SIMILARITY: Contains 1 MHD (mu homology) domain.
CC   -!- GENE_FAMILY: HOG000173245 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000221838;ENST00000359593;ENSP00000352603.
DR   EMBL; AC073842; - ;
DR   EMBL; AF020796; - ;
DR   EMBL; AF155158; - ;
DR   EMBL; AK296651; - ;
DR   EMBL; BC018705; - ;
DR   EMBL; CH471091; - ;
DR   EMBL; Y08387; - ;
DR   UniProtKB/Swiss-Prot; O00189; D6W5U1; Q8WV65; Q9UHK9; -.
DR   EMBL; Y08387; CAA69667.1; -; mRNA.
DR   EMBL; AF155158; AAD43328.1; -; mRNA.
DR   EMBL; AF020796; AAD25869.1; -; mRNA.
DR   EMBL; CH471091; EAW76594.1; -; Genomic_DNA.
DR   EMBL; CH471091; EAW76597.1; -; Genomic_DNA.
DR   EMBL; BC018705; AAH18705.1; -; mRNA.
DR   IPI; IPI00103040; -.
DR   RefSeq; NP_004713.2; NM_004722.3.
DR   UniGene; Hs.632317; -.
DR   PDB; 3L81; X-ray; 1.60 A; A=160-453.
DR   PDBsum; 3L81; -.
DR   ProteinModelPortal; O00189; -.
DR   SMR; O00189; 1-453.
DR   STRING; O00189; -.
DR   PhosphoSite; O00189; -.
DR   PRIDE; O00189; -.
DR   Ensembl; ENST00000359593; ENSP00000352603; ENSG00000221838.
DR   Ensembl; ENST00000421755; ENSP00000412185; ENSG00000221838.
DR   GeneID; 9179; -.
DR   KEGG; hsa:9179; -.
DR   UCSC; uc003utb.2; human.
DR   CTD; 9179; -.
DR   GeneCards; GC07P094334; -.
DR   H-InvDB; HIX0006908; -.
DR   HGNC; HGNC:574; AP4M1.
DR   MIM; 602296; gene.
DR   MIM; 612936; phenotype.
DR   neXtProt; NX_O00189; -.
DR   Orphanet; 210141; Congenital spastic tetraplegia.
DR   PharmGKB; PA24866; -.
DR   eggNOG; prNOG15933; -.
DR   GeneTree; ENSGT00530000062779; -.
DR   InParanoid; O00189; -.
DR   PhylomeDB; O00189; -.
DR   NextBio; 34413; -.
DR   ArrayExpress; O00189; -.
DR   Bgee; O00189; -.
DR   CleanEx; HS_AP4M1; -.
DR   Genevestigator; O00189; -.
DR   GermOnline; ENSG00000206580; Homo sapiens.
DR   GO; GO:0030131; C:clathrin adaptor complex; IEA:InterPro.
DR   GO; GO:0005905; C:coated pit; IEA:UniProtKB-SubCell.
DR   GO; GO:0000138; C:Golgi trans cisterna; TAS:ProtInc.
DR   GO; GO:0005215; F:transporter activity; TAS:ProtInc.
DR   GO; GO:0006886; P:intracellular protein transport; IEA:InterPro.
DR   GO; GO:0016192; P:vesicle-mediated transport; TAS:ProtInc.
DR   InterPro; IPR022775; AP_mu_sigma_su.
DR   InterPro; IPR001392; Clathrin_mu.
DR   InterPro; IPR008968; Clathrin_mu_C.
DR   InterPro; IPR018240; Clathrin_mu_CS.
DR   InterPro; IPR011012; Longin-like.
DR   Pfam; PF00928; Adap_comp_sub; 1.
DR   Pfam; PF01217; Clat_adaptor_s; 1.
DR   PIRSF; PIRSF005992; Clathrin_mu; 1.
DR   PRINTS; PR00314; CLATHRINADPT.
DR   SUPFAM; SSF49447; AP50; 1.
DR   SUPFAM; SSF64356; Longin_like; 1.
DR   PROSITE; PS00990; CLAT_ADAPTOR_M_1; FALSE_NEG.
DR   PROSITE; PS00991; CLAT_ADAPTOR_M_2; 1.
DR   PROSITE; PS51072; MHD; 1.
DR   HOGENOMDNA; HS7.PE2679; -.
KW   ENSG000002218381755old_1320000031; ENSP000003526037901old_1320000031;
KW   B4DKN7_HUMAN; C9IZL5_HUMAN; D6W5U1_HUMAN; AC073842; AF020796; AF155158;
KW   BC018705; CH471091; Y08387;
KW   3D-structure; Coated pit; Complete proteome; Golgi apparatus;
KW   Membrane; Phosphoprotein; Protein transport; Reference proteome;
KW   Transport.
SQ   SEQUENCE   453 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MISQFFILSS KGDPLIYKDF RGDSGGRDVA ELFYRKLTGL PGDESPVVMH HHGRHFIHIR
     HSGLYLVVTT SENVSPFSLL ELLSRLATLL GDYCGSLGEG TISRNVALVY ELLDEVLDYG
     YVQTTSTEML RNFIQTEAVV SKPFSLFDLS SVGLFGAETQ QSKVAPSSAA SRPVLSSRSD
     QSQKNEVFLD VVERLSVLIA SNGSLLKVDV QGEIRLKSFL PSGSEMRIGL TEEFCVGKSE
     LRGYGPGIRV DEVSFHSSVN LDEFESHRIL RLQPPQGELT VMRYQLSDDL PSPLPFRLFP
     SVQWDRGSGR LQVYLKLRCD LLSKSQALNV RLHLPLPRGV VSLSQELSSP EQKAELAEGA
     LRWDLPRVQG GSQLSGLFQM DVPGPPGPPS HGLSTSASPL GLGPASLSFE LPRHTCSGLQ
     VRFLRLAFRP CGNANPHKWV RHLSHSDAYV IRI
//

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