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Q9UPM8 (AP4E1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
AP-4 complex subunit epsilon-1
Alternative name(s):
AP-4 adapter complex subunit epsilon
Adapter-related protein complex 4 subunit epsilon-1
Epsilon subunit of AP-4
Epsilon-adaptin
Gene names
Name:AP4E1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1137 AA.
Sequence statusComplete.
Protein existenceEvidence 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

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).

Subcellular location

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

Tissue specificity

Widely expressed.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the adaptor complexes large subunit family.

Ontologies

Keywords
   Biological processProtein transport
Transport
   Cellular componentCoated pit
Golgi apparatus
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processintracellular protein transport

Inferred from electronic annotation. Source: InterPro

vesicle-mediated transport

Inferred from electronic annotation. Source: InterPro

   Cellular_componentGolgi apparatus

Inferred from electronic annotation. Source: UniProtKB-SubCell

coated pit

Inferred from electronic annotation. Source: UniProtKB-SubCell

membrane coat

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UPM8-1)

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.
Isoform 2 (identifier: Q9UPM8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-75: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11371137AP-4 complex subunit epsilon-1
PRO_0000193769

Amino acid modifications

Modified residue8571Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 7575Missing in isoform 2.
VSP_046009
Natural variant1631C → R. Ref.3 Ref.4 Ref.7
Corresponds to variant rs2306331 [ dbSNP | Ensembl ].
VAR_031621

Experimental info

Sequence conflict301A → G in AAD43326. Ref.1
Sequence conflict461L → F in AAD43326. Ref.1
Sequence conflict2141L → P in AAD43326. Ref.1
Sequence conflict262 – 2654EFNY → NF in AAD43326. Ref.1
Sequence conflict6781A → V in CAH18399. Ref.4
Sequence conflict7941R → G in CAH18399. Ref.4
Sequence conflict9911S → G in CAH18399. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 17, 2007. Version 2.
Checksum: 1784E886EC922875

FASTA1,137127,287
        10         20         30         40         50         60 
MSDIVEKTLT ALPGLFLQNQ PGGGPAAAKA SFSSRLGSLV RGITALTSKH EEEKLIQQEL 

        70         80         90        100        110        120 
SSLKATVSAP TTTLKMMKEC MVRLIYCEML GYDASFGYIH AIKLAQQGNL LEKRVGYLAV 

       130        140        150        160        170        180 
SLFLHESHEL LLLLVNTVVK DLQSTNLVEV CMALTVVSQI FPCEMIPAVL PLIEDKLQHS 

       190        200        210        220        230        240 
KEIVRRKAVL ALYKFHLIAP NQVQHIHIKF RKALCDRDVG VMAASLHIYL RMIKENSSGY 

       250        260        270        280        290        300 
KDLTGSFVTI LKQVVGGKLP VEFNYHSVPA PWLQIQLLRI LGLLGKDDQR TSELMYDVLD 

       310        320        330        340        350        360 
ESLRRAELNH NVTYAILFEC VHTVYSIYPK SELLEKAAKC IGKFVLSPKI NLKYLGLKAL 

       370        380        390        400        410        420 
TYVIQQDPTL ALQHQMTIIE CLDHPDPIIK RETLELLYRI TNAQNITVIV QKMLEYLHQS 

       430        440        450        460        470        480 
KEEYVIVNLV GKIAELAEKY APDNAWFIQT MNAVFSVGGD VMHPDIPNNF LRLLAEGFDD 

       490        500        510        520        530        540 
ETEDQQLRLY AVQSYLTLLD MENVFYPQRF LQVMSWVLGE YSYLLDKETP EEVIAKLYKL 

       550        560        570        580        590        600 
LMNDSVSSET KAWLIAAVTK LTSQAHSSNT VERLIHEFTI SLDTCMRQHA FELKHLHENV 

       610        620        630        640        650        660 
ELMKSLLPVD RSCEDLVVDA SLSFLDGFVA EGLSQGAAPY KPPHQRQEEK LSQEKVLNFE 

       670        680        690        700        710        720 
PYGLSFSSSG FTGRQSPAGI SLGSDVSGNS AETGLKETNS LKLEGIKKLW GKEGYLPKKE 

       730        740        750        760        770        780 
SKTGDESGAL PVPQESIMEN VDQAITKKDQ SQVLTQSKEE KEKQLLASSL FVGLGSESTI 

       790        800        810        820        830        840 
NLLGKADTVS HKFRRKSKVK EAKSGETTST HNMTCSSFSS LSNVAYEDDY YSNTLHDTGD 

       850        860        870        880        890        900 
KELKKFSLTS ELLDSESLTE LPLVEKFSYC SLSTPSLFAN NNMEIFHPPQ STAASVAKES 

       910        920        930        940        950        960 
SLASSFLEET TEYIHSNAME VCNNETISVS SYKIWKDDCL LMVWSVTNKS GLELKSADLE 

       970        980        990       1000       1010       1020 
IFPAENFKVT EQPGCCLPVM EAESTKSFQY SVQIEKPFTE GNLTGFISYH MMDTHSAQLE 

      1030       1040       1050       1060       1070       1080 
FSVNLSLLDF IRPLKISSDD FGKLWLSFAN DVKQNVKMSE SQAALPSALK TLQQKLRLHI 

      1090       1100       1110       1120       1130 
IEIIGNEGLL ACQLLPSIPC LLHCRVHADV LALWFRSSCS TLPDYLLYQC QKVMEGS 

« Hide

Isoform 2 [UniParc].

Checksum: 14CBDA9A25B63BFF
Show »

FASTA1,062119,482

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32240.1. [Q9UPM8-1]
CCDS58362.1. [Q9UPM8-2]
RefSeqNP_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]
UniGeneHs.413366.

3D structure databases

ProteinModelPortalQ9UPM8.
SMRQ9UPM8. Positions 35-607.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116999. 6 interactions.
IntActQ9UPM8. 1 interaction.
MINTMINT-221558.
STRING9606.ENSP00000261842.

PTM databases

PhosphoSiteQ9UPM8.

Polymorphism databases

DMDM145559441.

Proteomic databases

MaxQBQ9UPM8.
PaxDbQ9UPM8.
PRIDEQ9UPM8.

Protocols and materials databases

DNASU23431.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261842; ENSP00000261842; ENSG00000081014. [Q9UPM8-1]
ENST00000560508; ENSP00000452976; ENSG00000081014. [Q9UPM8-2]
GeneID23431.
KEGGhsa:23431.
UCSCuc001zyx.2. human. [Q9UPM8-1]

Organism-specific databases

CTD23431.
GeneCardsGC15P051200.
HGNCHGNC:573. AP4E1.
HPAHPA041749.
HPA041891.
MIM607244. gene.
613744. phenotype.
neXtProtNX_Q9UPM8.
Orphanet280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBPA24865.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG303101.
HOGENOMHOG000231886.
HOVERGENHBG050522.
InParanoidQ9UPM8.
KOK12400.
OMADTVSHKF.
OrthoDBEOG769ZHR.
PhylomeDBQ9UPM8.
TreeFamTF332488.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressQ9UPM8.
BgeeQ9UPM8.
CleanExHS_AP4E1.
GenevestigatorQ9UPM8.

Family and domain databases

Gene3D1.25.10.10. 1 hit.
InterProIPR017109. AP4_complex_esu.
IPR028269. AP4E1_C.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR002553. Clathrin/coatomer_adapt-like_N.
[Graphical view]
PANTHERPTHR22780:SF13. PTHR22780:SF13. 1 hit.
PfamPF01602. Adaptin_N. 1 hit.
PF14807. AP4E_app_platf. 1 hit.
[Graphical view]
PIRSFPIRSF037097. AP4_complex_epsilon. 1 hit.
SUPFAMSSF48371. SSF48371. 2 hits.
ProtoNetSearch...

Other

GeneWikiAP4E1.
GenomeRNAi23431.
NextBio45677.
PROQ9UPM8.
SOURCESearch...

Entry information

Entry nameAP4E1_HUMAN
AccessionPrimary (citable) accession number: Q9UPM8
Secondary accession number(s): A0AVD6 expand/collapse secondary AC list , A1L4A9, A6NNX7, H0YKX4, Q68D31, Q9Y588
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 17, 2007
Last modified: July 9, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM