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Q9UPM8

- AP4E1_HUMAN

UniProt

Q9UPM8 - AP4E1_HUMAN

Protein

AP-4 complex subunit epsilon-1

Gene

AP4E1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (17 Apr 2007)
      Previous versions | rss
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    Functioni

    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.

    GO - Biological processi

    1. intracellular protein transport Source: InterPro
    2. vesicle-mediated transport Source: InterPro

    Keywords - Biological processi

    Protein transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_19400. Golgi Associated Vesicle Biogenesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    AP-4 complex subunit epsilon-1
    Alternative name(s):
    AP-4 adaptor complex subunit epsilon
    Adaptor-related protein complex 4 subunit epsilon-1
    Epsilon subunit of AP-4
    Epsilon-adaptin
    Gene namesi
    Name:AP4E1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:573. AP4E1.

    Subcellular locationi

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

    GO - Cellular componenti

    1. coated pit Source: UniProtKB-SubCell
    2. Golgi apparatus Source: UniProtKB-SubCell
    3. membrane coat Source: InterPro

    Keywords - Cellular componenti

    Coated pit, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Cerebral palsy, spastic quadriplegic 4 (CPSQ4) [MIM:613744]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi613744. phenotype.
    Orphaneti280763. Severe intellectual disability and progressive spastic paraplegia.
    PharmGKBiPA24865.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11371137AP-4 complex subunit epsilon-1PRO_0000193769Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei857 – 8571Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9UPM8.
    PaxDbiQ9UPM8.
    PRIDEiQ9UPM8.

    PTM databases

    PhosphoSiteiQ9UPM8.

    Expressioni

    Tissue specificityi

    Widely expressed.

    Gene expression databases

    ArrayExpressiQ9UPM8.
    BgeeiQ9UPM8.
    CleanExiHS_AP4E1.
    GenevestigatoriQ9UPM8.

    Organism-specific databases

    HPAiHPA041749.
    HPA041891.

    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).

    Protein-protein interaction databases

    BioGridi116999. 7 interactions.
    IntActiQ9UPM8. 1 interaction.
    MINTiMINT-221558.
    STRINGi9606.ENSP00000261842.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UPM8.
    SMRiQ9UPM8. Positions 35-607.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG303101.
    HOGENOMiHOG000231886.
    HOVERGENiHBG050522.
    InParanoidiQ9UPM8.
    KOiK12400.
    OMAiDTVSHKF.
    OrthoDBiEOG769ZHR.
    PhylomeDBiQ9UPM8.
    TreeFamiTF332488.

    Family and domain databases

    Gene3Di1.25.10.10. 1 hit.
    InterProiIPR017109. AP4_complex_esu.
    IPR028269. AP4E1_C.
    IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR002553. Clathrin/coatomer_adapt-like_N.
    [Graphical view]
    PANTHERiPTHR22780:SF13. PTHR22780:SF13. 1 hit.
    PfamiPF01602. Adaptin_N. 1 hit.
    PF14807. AP4E_app_platf. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037097. AP4_complex_epsilon. 1 hit.
    SUPFAMiSSF48371. SSF48371. 2 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UPM8-1) [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

    MSDIVEKTLT ALPGLFLQNQ PGGGPAAAKA SFSSRLGSLV RGITALTSKH     50
    EEEKLIQQEL SSLKATVSAP TTTLKMMKEC MVRLIYCEML GYDASFGYIH 100
    AIKLAQQGNL LEKRVGYLAV SLFLHESHEL LLLLVNTVVK DLQSTNLVEV 150
    CMALTVVSQI FPCEMIPAVL PLIEDKLQHS KEIVRRKAVL ALYKFHLIAP 200
    NQVQHIHIKF RKALCDRDVG VMAASLHIYL RMIKENSSGY KDLTGSFVTI 250
    LKQVVGGKLP VEFNYHSVPA PWLQIQLLRI LGLLGKDDQR TSELMYDVLD 300
    ESLRRAELNH NVTYAILFEC VHTVYSIYPK SELLEKAAKC IGKFVLSPKI 350
    NLKYLGLKAL TYVIQQDPTL ALQHQMTIIE CLDHPDPIIK RETLELLYRI 400
    TNAQNITVIV QKMLEYLHQS KEEYVIVNLV GKIAELAEKY APDNAWFIQT 450
    MNAVFSVGGD VMHPDIPNNF LRLLAEGFDD ETEDQQLRLY AVQSYLTLLD 500
    MENVFYPQRF LQVMSWVLGE YSYLLDKETP EEVIAKLYKL LMNDSVSSET 550
    KAWLIAAVTK LTSQAHSSNT VERLIHEFTI SLDTCMRQHA FELKHLHENV 600
    ELMKSLLPVD RSCEDLVVDA SLSFLDGFVA EGLSQGAAPY KPPHQRQEEK 650
    LSQEKVLNFE PYGLSFSSSG FTGRQSPAGI SLGSDVSGNS AETGLKETNS 700
    LKLEGIKKLW GKEGYLPKKE SKTGDESGAL PVPQESIMEN VDQAITKKDQ 750
    SQVLTQSKEE KEKQLLASSL FVGLGSESTI NLLGKADTVS HKFRRKSKVK 800
    EAKSGETTST HNMTCSSFSS LSNVAYEDDY YSNTLHDTGD KELKKFSLTS 850
    ELLDSESLTE LPLVEKFSYC SLSTPSLFAN NNMEIFHPPQ STAASVAKES 900
    SLASSFLEET TEYIHSNAME VCNNETISVS SYKIWKDDCL LMVWSVTNKS 950
    GLELKSADLE IFPAENFKVT EQPGCCLPVM EAESTKSFQY SVQIEKPFTE 1000
    GNLTGFISYH MMDTHSAQLE FSVNLSLLDF IRPLKISSDD FGKLWLSFAN 1050
    DVKQNVKMSE SQAALPSALK TLQQKLRLHI IEIIGNEGLL ACQLLPSIPC 1100
    LLHCRVHADV LALWFRSSCS TLPDYLLYQC QKVMEGS 1137
    Length:1,137
    Mass (Da):127,287
    Last modified:April 17, 2007 - v2
    Checksum:i1784E886EC922875
    GO
    Isoform 2 (identifier: Q9UPM8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-75: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,062
    Mass (Da):119,482
    Checksum:i14CBDA9A25B63BFF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti30 – 301A → G in AAD43326. (PubMed:10436028)Curated
    Sequence conflicti46 – 461L → F in AAD43326. (PubMed:10436028)Curated
    Sequence conflicti214 – 2141L → P in AAD43326. (PubMed:10436028)Curated
    Sequence conflicti262 – 2654EFNY → NF in AAD43326. (PubMed:10436028)Curated
    Sequence conflicti678 – 6781A → V in CAH18399. (PubMed:17974005)Curated
    Sequence conflicti794 – 7941R → G in CAH18399. (PubMed:17974005)Curated
    Sequence conflicti991 – 9911S → G in CAH18399. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti163 – 1631C → R.3 Publications
    Corresponds to variant rs2306331 [ dbSNP | Ensembl ].
    VAR_031621

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7575Missing in isoform 2. 1 PublicationVSP_046009Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF155156 mRNA. Translation: AAD43326.2.
    AB030653 mRNA. Translation: BAA82969.1.
    CR749604 mRNA. Translation: CAH18399.1.
    AC021752 Genomic DNA. No translation available.
    AC022407 Genomic DNA. No translation available.
    AC073964 Genomic DNA. No translation available.
    CH471082 Genomic DNA. Translation: EAW77411.1.
    BC126308 mRNA. Translation: AAI26309.1.
    BC130466 mRNA. Translation: AAI30467.1.
    CCDSiCCDS32240.1. [Q9UPM8-1]
    CCDS58362.1. [Q9UPM8-2]
    RefSeqiNP_001239056.1. NM_001252127.1. [Q9UPM8-2]
    NP_031373.2. NM_007347.4. [Q9UPM8-1]
    XP_005254321.1. XM_005254264.2. [Q9UPM8-2]
    XP_006720510.1. XM_006720447.1. [Q9UPM8-2]
    UniGeneiHs.413366.

    Genome annotation databases

    EnsembliENST00000261842; ENSP00000261842; ENSG00000081014. [Q9UPM8-1]
    ENST00000560508; ENSP00000452976; ENSG00000081014. [Q9UPM8-2]
    GeneIDi23431.
    KEGGihsa:23431.
    UCSCiuc001zyx.2. human. [Q9UPM8-1]

    Polymorphism databases

    DMDMi145559441.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF155156 mRNA. Translation: AAD43326.2 .
    AB030653 mRNA. Translation: BAA82969.1 .
    CR749604 mRNA. Translation: CAH18399.1 .
    AC021752 Genomic DNA. No translation available.
    AC022407 Genomic DNA. No translation available.
    AC073964 Genomic DNA. No translation available.
    CH471082 Genomic DNA. Translation: EAW77411.1 .
    BC126308 mRNA. Translation: AAI26309.1 .
    BC130466 mRNA. Translation: AAI30467.1 .
    CCDSi CCDS32240.1. [Q9UPM8-1 ]
    CCDS58362.1. [Q9UPM8-2 ]
    RefSeqi NP_001239056.1. NM_001252127.1. [Q9UPM8-2 ]
    NP_031373.2. NM_007347.4. [Q9UPM8-1 ]
    XP_005254321.1. XM_005254264.2. [Q9UPM8-2 ]
    XP_006720510.1. XM_006720447.1. [Q9UPM8-2 ]
    UniGenei Hs.413366.

    3D structure databases

    ProteinModelPortali Q9UPM8.
    SMRi Q9UPM8. Positions 35-607.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116999. 7 interactions.
    IntActi Q9UPM8. 1 interaction.
    MINTi MINT-221558.
    STRINGi 9606.ENSP00000261842.

    PTM databases

    PhosphoSitei Q9UPM8.

    Polymorphism databases

    DMDMi 145559441.

    Proteomic databases

    MaxQBi Q9UPM8.
    PaxDbi Q9UPM8.
    PRIDEi Q9UPM8.

    Protocols and materials databases

    DNASUi 23431.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261842 ; ENSP00000261842 ; ENSG00000081014 . [Q9UPM8-1 ]
    ENST00000560508 ; ENSP00000452976 ; ENSG00000081014 . [Q9UPM8-2 ]
    GeneIDi 23431.
    KEGGi hsa:23431.
    UCSCi uc001zyx.2. human. [Q9UPM8-1 ]

    Organism-specific databases

    CTDi 23431.
    GeneCardsi GC15P051200.
    HGNCi HGNC:573. AP4E1.
    HPAi HPA041749.
    HPA041891.
    MIMi 607244. gene.
    613744. phenotype.
    neXtProti NX_Q9UPM8.
    Orphaneti 280763. Severe intellectual disability and progressive spastic paraplegia.
    PharmGKBi PA24865.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG303101.
    HOGENOMi HOG000231886.
    HOVERGENi HBG050522.
    InParanoidi Q9UPM8.
    KOi K12400.
    OMAi DTVSHKF.
    OrthoDBi EOG769ZHR.
    PhylomeDBi Q9UPM8.
    TreeFami TF332488.

    Enzyme and pathway databases

    Reactomei REACT_19400. Golgi Associated Vesicle Biogenesis.

    Miscellaneous databases

    GeneWikii AP4E1.
    GenomeRNAii 23431.
    NextBioi 45677.
    PROi Q9UPM8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UPM8.
    Bgeei Q9UPM8.
    CleanExi HS_AP4E1.
    Genevestigatori Q9UPM8.

    Family and domain databases

    Gene3Di 1.25.10.10. 1 hit.
    InterProi IPR017109. AP4_complex_esu.
    IPR028269. AP4E1_C.
    IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR002553. Clathrin/coatomer_adapt-like_N.
    [Graphical view ]
    PANTHERi PTHR22780:SF13. PTHR22780:SF13. 1 hit.
    Pfami PF01602. Adaptin_N. 1 hit.
    PF14807. AP4E_app_platf. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037097. AP4_complex_epsilon. 1 hit.
    SUPFAMi SSF48371. SSF48371. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 1).
      Tissue: Heart and Testis.
    2. Hirst J., Robinson M.S.
      Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "Similar subunit interactions contribute to assembly of clathrin adaptor complexes and COPI complex: analysis using yeast three-hybrid system."
      Takatsu H., Futatsumori M., Yoshino K., Yoshida Y., Shin H.W., Nakayama K.
      Biochem. Biophys. Res. Commun. 284:1083-1089(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-163.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ARG-163.
      Tissue: Uterine endothelium.
    5. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 1), VARIANT ARG-163.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-857, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability."
      Moreno-De-Luca A., Helmers S.L., Mao H., Burns T.G., Melton A.M., Schmidt K.R., Fernhoff P.M., Ledbetter D.H., Martin C.L.
      J. Med. Genet. 48:141-144(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CPSQ4.

    Entry informationi

    Entry nameiAP4E1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UPM8
    Secondary accession number(s): A0AVD6
    , A1L4A9, A6NNX7, H0YKX4, Q68D31, Q9Y588
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: April 17, 2007
    Last modified: October 1, 2014
    This is version 121 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3