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Q9UPM8

- AP4E1_HUMAN

UniProt

Q9UPM8 - AP4E1_HUMAN

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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

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
Complete GO annotation...

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-KW
  2. Golgi apparatus Source: UniProtKB-KW
  3. membrane coat Source: InterPro
Complete GO annotation...

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

BgeeiQ9UPM8.
CleanExiHS_AP4E1.
ExpressionAtlasiQ9UPM8. baseline and differential.
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. 8 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.
GeneTreeiENSGT00390000012618.
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

        10         20         30         40         50
MSDIVEKTLT ALPGLFLQNQ PGGGPAAAKA SFSSRLGSLV RGITALTSKH
60 70 80 90 100
EEEKLIQQEL SSLKATVSAP TTTLKMMKEC MVRLIYCEML GYDASFGYIH
110 120 130 140 150
AIKLAQQGNL LEKRVGYLAV SLFLHESHEL LLLLVNTVVK DLQSTNLVEV
160 170 180 190 200
CMALTVVSQI FPCEMIPAVL PLIEDKLQHS KEIVRRKAVL ALYKFHLIAP
210 220 230 240 250
NQVQHIHIKF RKALCDRDVG VMAASLHIYL RMIKENSSGY KDLTGSFVTI
260 270 280 290 300
LKQVVGGKLP VEFNYHSVPA PWLQIQLLRI LGLLGKDDQR TSELMYDVLD
310 320 330 340 350
ESLRRAELNH NVTYAILFEC VHTVYSIYPK SELLEKAAKC IGKFVLSPKI
360 370 380 390 400
NLKYLGLKAL TYVIQQDPTL ALQHQMTIIE CLDHPDPIIK RETLELLYRI
410 420 430 440 450
TNAQNITVIV QKMLEYLHQS KEEYVIVNLV GKIAELAEKY APDNAWFIQT
460 470 480 490 500
MNAVFSVGGD VMHPDIPNNF LRLLAEGFDD ETEDQQLRLY AVQSYLTLLD
510 520 530 540 550
MENVFYPQRF LQVMSWVLGE YSYLLDKETP EEVIAKLYKL LMNDSVSSET
560 570 580 590 600
KAWLIAAVTK LTSQAHSSNT VERLIHEFTI SLDTCMRQHA FELKHLHENV
610 620 630 640 650
ELMKSLLPVD RSCEDLVVDA SLSFLDGFVA EGLSQGAAPY KPPHQRQEEK
660 670 680 690 700
LSQEKVLNFE PYGLSFSSSG FTGRQSPAGI SLGSDVSGNS AETGLKETNS
710 720 730 740 750
LKLEGIKKLW GKEGYLPKKE SKTGDESGAL PVPQESIMEN VDQAITKKDQ
760 770 780 790 800
SQVLTQSKEE KEKQLLASSL FVGLGSESTI NLLGKADTVS HKFRRKSKVK
810 820 830 840 850
EAKSGETTST HNMTCSSFSS LSNVAYEDDY YSNTLHDTGD KELKKFSLTS
860 870 880 890 900
ELLDSESLTE LPLVEKFSYC SLSTPSLFAN NNMEIFHPPQ STAASVAKES
910 920 930 940 950
SLASSFLEET TEYIHSNAME VCNNETISVS SYKIWKDDCL LMVWSVTNKS
960 970 980 990 1000
GLELKSADLE IFPAENFKVT EQPGCCLPVM EAESTKSFQY SVQIEKPFTE
1010 1020 1030 1040 1050
GNLTGFISYH MMDTHSAQLE FSVNLSLLDF IRPLKISSDD FGKLWLSFAN
1060 1070 1080 1090 1100
DVKQNVKMSE SQAALPSALK TLQQKLRLHI IEIIGNEGLL ACQLLPSIPC
1110 1120 1130
LLHCRVHADV LALWFRSSCS TLPDYLLYQC QKVMEGS
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 8 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.
GeneTreei ENSGT00390000012618.
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

Bgeei Q9UPM8.
CleanExi HS_AP4E1.
ExpressionAtlasi Q9UPM8. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 122 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