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Protein

AP-4 complex subunit epsilon-1

Gene

AP4E1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-432720. Lysosome Vesicle Biogenesis.
R-HSA-432722. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:573. AP4E1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Coated pit, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Cerebral palsy, spastic quadriplegic 4 (CPSQ4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613744
Stuttering, familial persistent 1 (STUT1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant.
See also OMIM:184450
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961F → V in STUT1; unknown pathological significance. 1 Publication
VAR_076620
Natural varianti205 – 2051H → N in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs148499164 [ dbSNP | Ensembl ].
VAR_076622
Natural varianti311 – 3111N → S in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs536656846 [ dbSNP | Ensembl ].
VAR_076625
Natural varianti326 – 3261S → F in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs372479885 [ dbSNP | Ensembl ].
VAR_076626
Natural varianti384 – 3841H → R in STUT1; unknown pathological significance. 1 Publication
VAR_076627
Natural varianti475 – 4751A → V in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs200678853 [ dbSNP | Ensembl ].
VAR_076629
Natural varianti517 – 5171V → I in STUT1; slightly decreased assembly of the AP-4 complex. 1 Publication
VAR_076630
Natural varianti542 – 5421M → V in STUT1; unknown pathological significance. 1 Publication
VAR_076631
Natural varianti623 – 6231S → P in STUT1; unknown pathological significance. 1 Publication
VAR_076633
Natural varianti801 – 8011E → K in STUT1; slightly decreased assembly of the AP-4 complex. 1 Publication
VAR_076635
Natural varianti905 – 9051S → P in STUT1; unknown pathological significance. 1 Publication
VAR_076637
Natural varianti978 – 9781P → S in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs141278078 [ dbSNP | Ensembl ].
VAR_076638
Natural varianti1080 – 10801I → V in STUT1; unknown pathological significance. 1 Publication
VAR_076639
Natural varianti1089 – 10891L → R in STUT1; unknown pathological significance. 1 Publication
VAR_076640
Natural varianti1105 – 11051R → Q in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs139640763 [ dbSNP | Ensembl ].
VAR_076641

Organism-specific databases

MalaCardsiAP4E1.
MIMi184450. phenotype.
613744. phenotype.
Orphaneti280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBiPA24865.

Polymorphism and mutation databases

BioMutaiAP4E1.
DMDMi145559441.

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 residuei700 – 7001PhosphoserineCombined sources
Modified residuei857 – 8571PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UPM8.
MaxQBiQ9UPM8.
PaxDbiQ9UPM8.
PeptideAtlasiQ9UPM8.
PRIDEiQ9UPM8.

PTM databases

iPTMnetiQ9UPM8.
PhosphoSiteiQ9UPM8.

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000081014.
CleanExiHS_AP4E1.
ExpressionAtlasiQ9UPM8. baseline and differential.
GenevisibleiQ9UPM8. HS.

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).1 Publication

Protein-protein interaction databases

BioGridi116999. 17 interactions.
IntActiQ9UPM8. 15 interactions.
MINTiMINT-221558.
STRINGi9606.ENSP00000261842.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1062. Eukaryota.
ENOG410XPKK. LUCA.
GeneTreeiENSGT00390000012618.
HOGENOMiHOG000231886.
HOVERGENiHBG050522.
InParanoidiQ9UPM8.
KOiK12400.
OMAiSYKIWKD.
OrthoDBiEOG091G010Y.
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. 2 hits.
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. AlignAdd to basket

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 varianti85 – 851I → T.1 Publication
Corresponds to variant rs147005786 [ dbSNP | Ensembl ].
VAR_076619
Natural varianti96 – 961F → V in STUT1; unknown pathological significance. 1 Publication
VAR_076620
Natural varianti145 – 1451T → S.1 Publication
Corresponds to variant rs200034177 [ dbSNP | Ensembl ].
VAR_076621
Natural varianti163 – 1631C → R.3 Publications
Corresponds to variant rs2306331 [ dbSNP | Ensembl ].
VAR_031621
Natural varianti205 – 2051H → N in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs148499164 [ dbSNP | Ensembl ].
VAR_076622
Natural varianti211 – 2111R → Q.1 Publication
VAR_076623
Natural varianti264 – 2641N → S.1 Publication
Corresponds to variant rs145541719 [ dbSNP | Ensembl ].
VAR_076624
Natural varianti311 – 3111N → S in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs536656846 [ dbSNP | Ensembl ].
VAR_076625
Natural varianti326 – 3261S → F in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs372479885 [ dbSNP | Ensembl ].
VAR_076626
Natural varianti384 – 3841H → R in STUT1; unknown pathological significance. 1 Publication
VAR_076627
Natural varianti426 – 4261I → L.1 Publication
Corresponds to variant rs148817957 [ dbSNP | Ensembl ].
VAR_076628
Natural varianti475 – 4751A → V in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs200678853 [ dbSNP | Ensembl ].
VAR_076629
Natural varianti517 – 5171V → I in STUT1; slightly decreased assembly of the AP-4 complex. 1 Publication
VAR_076630
Natural varianti542 – 5421M → V in STUT1; unknown pathological significance. 1 Publication
VAR_076631
Natural varianti618 – 6181V → I.1 Publication
Corresponds to variant rs142215198 [ dbSNP | Ensembl ].
VAR_076632
Natural varianti623 – 6231S → P in STUT1; unknown pathological significance. 1 Publication
VAR_076633
Natural varianti706 – 7061I → K.1 Publication
VAR_076634
Natural varianti801 – 8011E → K in STUT1; slightly decreased assembly of the AP-4 complex. 1 Publication
VAR_076635
Natural varianti813 – 8131M → V.1 Publication
VAR_076636
Natural varianti905 – 9051S → P in STUT1; unknown pathological significance. 1 Publication
VAR_076637
Natural varianti978 – 9781P → S in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs141278078 [ dbSNP | Ensembl ].
VAR_076638
Natural varianti1080 – 10801I → V in STUT1; unknown pathological significance. 1 Publication
VAR_076639
Natural varianti1089 – 10891L → R in STUT1; unknown pathological significance. 1 Publication
VAR_076640
Natural varianti1105 – 11051R → Q in STUT1; unknown pathological significance. 1 Publication
Corresponds to variant rs139640763 [ dbSNP | Ensembl ].
VAR_076641

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_005254264.3. [Q9UPM8-2]
XP_006720510.1. XM_006720447.3. [Q9UPM8-2]
UniGeneiHs.413366.

Genome annotation databases

EnsembliENST00000261842; ENSP00000261842; ENSG00000081014. [Q9UPM8-1]
ENST00000560508; ENSP00000452976; ENSG00000081014. [Q9UPM8-2]
GeneIDi23431.
KEGGihsa:23431.
UCSCiuc001zyx.3. human. [Q9UPM8-1]

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.
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_005254264.3. [Q9UPM8-2]
XP_006720510.1. XM_006720447.3. [Q9UPM8-2]
UniGeneiHs.413366.

3D structure databases

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

Protein-protein interaction databases

BioGridi116999. 17 interactions.
IntActiQ9UPM8. 15 interactions.
MINTiMINT-221558.
STRINGi9606.ENSP00000261842.

PTM databases

iPTMnetiQ9UPM8.
PhosphoSiteiQ9UPM8.

Polymorphism and mutation databases

BioMutaiAP4E1.
DMDMi145559441.

Proteomic databases

EPDiQ9UPM8.
MaxQBiQ9UPM8.
PaxDbiQ9UPM8.
PeptideAtlasiQ9UPM8.
PRIDEiQ9UPM8.

Protocols and materials databases

DNASUi23431.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261842; ENSP00000261842; ENSG00000081014. [Q9UPM8-1]
ENST00000560508; ENSP00000452976; ENSG00000081014. [Q9UPM8-2]
GeneIDi23431.
KEGGihsa:23431.
UCSCiuc001zyx.3. human. [Q9UPM8-1]

Organism-specific databases

CTDi23431.
GeneCardsiAP4E1.
HGNCiHGNC:573. AP4E1.
HPAiHPA041749.
HPA041891.
MalaCardsiAP4E1.
MIMi184450. phenotype.
607244. gene.
613744. phenotype.
neXtProtiNX_Q9UPM8.
Orphaneti280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBiPA24865.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1062. Eukaryota.
ENOG410XPKK. LUCA.
GeneTreeiENSGT00390000012618.
HOGENOMiHOG000231886.
HOVERGENiHBG050522.
InParanoidiQ9UPM8.
KOiK12400.
OMAiSYKIWKD.
OrthoDBiEOG091G010Y.
PhylomeDBiQ9UPM8.
TreeFamiTF332488.

Enzyme and pathway databases

ReactomeiR-HSA-432720. Lysosome Vesicle Biogenesis.
R-HSA-432722. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

GeneWikiiAP4E1.
GenomeRNAii23431.
PROiQ9UPM8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000081014.
CleanExiHS_AP4E1.
ExpressionAtlasiQ9UPM8. baseline and differential.
GenevisibleiQ9UPM8. HS.

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. 2 hits.
PfamiPF01602. Adaptin_N. 1 hit.
PF14807. AP4E_app_platf. 1 hit.
[Graphical view]
PIRSFiPIRSF037097. AP4_complex_epsilon. 1 hit.
SUPFAMiSSF48371. SSF48371. 2 hits.
ProtoNetiSearch...

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: September 7, 2016
This is version 139 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.