AP4E1

Functionⁱ

Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).2 Publications2 Publications

GO - Biological processⁱ

protein localization
Source: UniProtKB
Inferred by curatorⁱ
- 10066790
protein targeting
Source: UniProtKB
Inferred by curatorⁱ
- 10066790
vesicle-mediated transport Source: InterPro

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Protein transport, Transport

Biological process

Protein transport, Transport

Enzyme and pathway databases

Reactomeⁱ	R-HSA-432720 Lysosome Vesicle Biogenesis R-HSA-432722 Golgi Associated Vesicle Biogenesis

Reactomeⁱ

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

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: AP-4 complex subunit epsilon-1Curated 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:AP4E1Imported
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 15

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000081014.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:573 AP4E1
MIMⁱ	607244 gene
neXtProtⁱ	NX_Q9UPM8

Keywords - Cellular componentⁱ

Golgi apparatus, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Spastic paraplegia 51, autosomal recessive (SPG51)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is 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.

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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_076620	96	F → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs566579877Ensembl.	1
Natural variantⁱVAR_076622	205	H → N in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148499164EnsemblClinVar.	1
Natural variantⁱVAR_076625	311	N → S in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs536656846Ensembl.	1
Natural variantⁱVAR_076626	326	S → F in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372479885Ensembl.	1
Natural variantⁱVAR_076627	384	H → R in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866266998Ensembl.	1
Natural variantⁱVAR_076629	475	A → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200678853EnsemblClinVar.	1
Natural variantⁱVAR_076630	517	V → I in STUT1; slightly decreased assembly of the AP-4 complex. 1 PublicationCorresponds to variant dbSNP:rs760021635EnsemblClinVar.	1
Natural variantⁱVAR_076631	542	M → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs542940704Ensembl.	1
Natural variantⁱVAR_076633	623	S → P in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766696884Ensembl.	1
Natural variantⁱVAR_076635	801	E → K in STUT1; slightly decreased assembly of the AP-4 complex. 1 PublicationCorresponds to variant dbSNP:rs556450190EnsemblClinVar.	1
Natural variantⁱVAR_076637	905	S → P in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780520338Ensembl.	1
Natural variantⁱVAR_076638	978	P → S in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141278078EnsemblClinVar.	1
Natural variantⁱVAR_076639	1080	I → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767423538Ensembl.	1
Natural variantⁱVAR_076640	1089	L → R in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs550237440Ensembl.	1
Natural variantⁱVAR_076641	1105	R → Q in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139640763EnsemblClinVar.	1

Keywords - Diseaseⁱ

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET More...DisGeNETⁱ	23431
MalaCards human disease database More...MalaCardsⁱ	AP4E1
MIMⁱ	184450 phenotype 613744 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000081014
Orphanetⁱ	280763 Severe intellectual disability and progressive spastic paraplegia
PharmGKBⁱ	PA24865

Polymorphism and mutation databases

BioMutaⁱ	AP4E1
DMDMⁱ	145559441

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000193769	1 – 1137	AP-4 complex subunit epsilon-1Add BLAST		1137

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	700	PhosphoserineCombined sources		1
Modified residueⁱ	857	PhosphoserineCombined sources		1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q9UPM8
PaxDbⁱ	Q9UPM8
PeptideAtlas More...PeptideAtlasⁱ	Q9UPM8
PRIDEⁱ	Q9UPM8
ProteomicsDBⁱ	85379

PTM databases

iPTMnetⁱ	Q9UPM8
PhosphoSitePlusⁱ	Q9UPM8

Expressionⁱ

Tissue specificityⁱ

Widely expressed.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000081014 Expressed in 202 organ(s), highest expression level in female gonad
CleanExⁱ	HS_AP4E1
ExpressionAtlasⁱ	Q9UPM8 baseline and differential
Genevisibleⁱ	Q9UPM8 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA041749 HPA041891

HPAⁱ

HPA041749
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) (PubMed:10436028, PubMed:10066790). Interacts with TEPSIN (PubMed:26542808). Interacts with GRIA2; probably indirect it mediates the somatodendritic localization of GRIA2 in neurons (By similarity).By similarity3 Publications

Protein-protein interaction databases

BioGridⁱ	116999, 19 interactors
CORUMⁱ	Q9UPM8
IntActⁱ	Q9UPM8, 16 interactors
STRINGⁱ	9606.ENSP00000261842

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9UPM8
SMRⁱ	Q9UPM8
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	727 – 1137	Interaction with TEPSIN1 PublicationAdd BLAST		411

Sequence similaritiesⁱ

Belongs to the adaptor complexes large subunit family.Curated

Phylogenomic databases

eggNOGⁱ	KOG1062 Eukaryota ENOG410XPKK LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000012618
HOGENOMⁱ	HOG000231886
HOVERGENⁱ	HBG050522
InParanoidⁱ	Q9UPM8
KEGG Orthology (KO) More...KOⁱ	K12400
OMAⁱ	SYKIWKD
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G010Y
PhylomeDBⁱ	Q9UPM8
TreeFamⁱ	TF332488

Family and domain databases

Gene3Dⁱ	1.25.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR017109 AP4_complex_esu IPR028269 AP4E1_C IPR011989 ARM-like IPR016024 ARM-type_fold IPR002553 Clathrin/coatomer_adapt-like_N
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01602 Adaptin_N, 1 hit PF14807 AP4E_app_platf, 1 hit
PIRSFⁱ	PIRSF037097 AP4_complex_epsilon, 1 hit
SMARTⁱ	View protein in SMART SM01356 AP4E_app_platf, 1 hit
SUPFAMⁱ	SSF48371 SSF48371, 2 hits

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.ⁱShow all

Isoform 1 (identifier: Q9UPM8-1) [UniParc]FASTA Add 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]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MMKECMVRLI YCEMLGYDAS FGYIHAIKLA QQGNLLEKRV GYLAVSLFLH 
        60         70         80         90        100
ESHELLLLLV NTVVKDLQST NLVEVCMALT VVSQIFPCEM IPAVLPLIED 
       110        120        130        140        150
KLQHSKEIVR RKAVLALYKF HLIAPNQVQH IHIKFRKALC DRDVGVMAAS 
       160        170        180        190        200
LHIYLRMIKE NSSGYKDLTG SFVTILKQVV GGKLPVEFNY HSVPAPWLQI 
       210        220        230        240        250
QLLRILGLLG KDDQRTSELM YDVLDESLRR AELNHNVTYA ILFECVHTVY 
       260        270        280        290        300
SIYPKSELLE KAAKCIGKFV LSPKINLKYL GLKALTYVIQ QDPTLALQHQ 
       310        320        330        340        350
MTIIECLDHP DPIIKRETLE LLYRITNAQN ITVIVQKMLE YLHQSKEEYV 
       360        370        380        390        400
IVNLVGKIAE LAEKYAPDNA WFIQTMNAVF SVGGDVMHPD IPNNFLRLLA 
       410        420        430        440        450
EGFDDETEDQ QLRLYAVQSY LTLLDMENVF YPQRFLQVMS WVLGEYSYLL 
       460        470        480        490        500
DKETPEEVIA KLYKLLMNDS VSSETKAWLI AAVTKLTSQA HSSNTVERLI 
       510        520        530        540        550
HEFTISLDTC MRQHAFELKH LHENVELMKS LLPVDRSCED LVVDASLSFL 
       560        570        580        590        600
DGFVAEGLSQ GAAPYKPPHQ RQEEKLSQEK VLNFEPYGLS FSSSGFTGRQ 
       610        620        630        640        650
SPAGISLGSD VSGNSAETGL KETNSLKLEG IKKLWGKEGY LPKKESKTGD 
       660        670        680        690        700
ESGALPVPQE SIMENVDQAI TKKDQSQVLT QSKEEKEKQL LASSLFVGLG 
       710        720        730        740        750
SESTINLLGK ADTVSHKFRR KSKVKEAKSG ETTSTHNMTC SSFSSLSNVA 
       760        770        780        790        800
YEDDYYSNTL HDTGDKELKK FSLTSELLDS ESLTELPLVE KFSYCSLSTP 
       810        820        830        840        850
SLFANNNMEI FHPPQSTAAS VAKESSLASS FLEETTEYIH SNAMEVCNNE 
       860        870        880        890        900
TISVSSYKIW KDDCLLMVWS VTNKSGLELK SADLEIFPAE NFKVTEQPGC 
       910        920        930        940        950
CLPVMEAEST KSFQYSVQIE KPFTEGNLTG FISYHMMDTH SAQLEFSVNL 
       960        970        980        990       1000
SLLDFIRPLK ISSDDFGKLW LSFANDVKQN VKMSESQAAL PSALKTLQQK 
      1010       1020       1030       1040       1050
LRLHIIEIIG NEGLLACQLL PSIPCLLHCR VHADVLALWF RSSCSTLPDY 
      1060 
LLYQCQKVME GS

Note: No experimental confirmation available.

Show »

Length:1,062

Mass (Da):119,482

Checksum:ⁱ14CBDA9A25B63BFF

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation
H0YK94	H0YK94_HUMAN	AP-4 complex subunit epsilon-1 AP-4 complex subunit epsilon-1	AP4E1	218	Annotation score:
H0YK95	H0YK95_HUMAN	AP-4 complex subunit epsilon-1 AP-4 complex subunit epsilon-1	AP4E1	321	Annotation score:
H0YL95	H0YL95_HUMAN	AP-4 complex subunit epsilon-1 AP-4 complex subunit epsilon-1	AP4E1	368	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	30	A → G in AAD43326 (PubMed:10436028).Curated	1
Sequence conflictⁱ	46	L → F in AAD43326 (PubMed:10436028).Curated	1
Sequence conflictⁱ	214	L → P in AAD43326 (PubMed:10436028).Curated	1
Sequence conflictⁱ	262 – 265	EFNY → NF in AAD43326 (PubMed:10436028).Curated	4
Sequence conflictⁱ	678	A → V in CAH18399 (PubMed:17974005).Curated	1
Sequence conflictⁱ	794	R → G in CAH18399 (PubMed:17974005).Curated	1
Sequence conflictⁱ	991	S → G in CAH18399 (PubMed:17974005).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_076619	85	I → T1 PublicationCorresponds to variant dbSNP:rs147005786Ensembl.	1
Natural variantⁱVAR_076620	96	F → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs566579877Ensembl.	1
Natural variantⁱVAR_076621	145	T → S1 PublicationCorresponds to variant dbSNP:rs200034177Ensembl.	1
Natural variantⁱVAR_031621	163	C → R3 PublicationsCorresponds to variant dbSNP:rs2306331EnsemblClinVar.	1
Natural variantⁱVAR_076622	205	H → N in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148499164EnsemblClinVar.	1
Natural variantⁱVAR_076623	211	R → Q1 PublicationCorresponds to variant dbSNP:rs750328226Ensembl.	1
Natural variantⁱVAR_076624	264	N → S1 PublicationCorresponds to variant dbSNP:rs145541719EnsemblClinVar.	1
Natural variantⁱVAR_076625	311	N → S in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs536656846Ensembl.	1
Natural variantⁱVAR_076626	326	S → F in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372479885Ensembl.	1
Natural variantⁱVAR_076627	384	H → R in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866266998Ensembl.	1
Natural variantⁱVAR_076628	426	I → L1 PublicationCorresponds to variant dbSNP:rs148817957EnsemblClinVar.	1
Natural variantⁱVAR_076629	475	A → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200678853EnsemblClinVar.	1
Natural variantⁱVAR_076630	517	V → I in STUT1; slightly decreased assembly of the AP-4 complex. 1 PublicationCorresponds to variant dbSNP:rs760021635EnsemblClinVar.	1
Natural variantⁱVAR_076631	542	M → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs542940704Ensembl.	1
Natural variantⁱVAR_076632	618	V → I1 PublicationCorresponds to variant dbSNP:rs142215198EnsemblClinVar.	1
Natural variantⁱVAR_076633	623	S → P in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766696884Ensembl.	1
Natural variantⁱVAR_076634	706	I → K1 PublicationCorresponds to variant dbSNP:rs865868636Ensembl.	1
Natural variantⁱVAR_079485	719	K → E Found in deaf patients; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_076635	801	E → K in STUT1; slightly decreased assembly of the AP-4 complex. 1 PublicationCorresponds to variant dbSNP:rs556450190EnsemblClinVar.	1
Natural variantⁱVAR_076636	813	M → V1 PublicationCorresponds to variant dbSNP:rs779094838Ensembl.	1
Natural variantⁱVAR_076637	905	S → P in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780520338Ensembl.	1
Natural variantⁱVAR_076638	978	P → S in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141278078EnsemblClinVar.	1
Natural variantⁱVAR_076639	1080	I → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767423538Ensembl.	1
Natural variantⁱVAR_076640	1089	L → R in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs550237440Ensembl.	1
Natural variantⁱVAR_076641	1105	R → Q in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139640763EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_046009	1 – 75	Missing in isoform 2. 1 PublicationAdd BLAST		75

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS32240.1 [Q9UPM8-1] CCDS58362.1 [Q9UPM8-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_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]
UniGeneⁱ	Hs.413366

Genome annotation databases

Ensemblⁱ	ENST00000261842; ENSP00000261842; ENSG00000081014 [Q9UPM8-1] ENST00000560508; ENSP00000452976; ENSG00000081014 [Q9UPM8-2]
GeneIDⁱ	23431
KEGGⁱ	hsa:23431
UCSC genome browser More...UCSCⁱ	uc001zyx.3 human [Q9UPM8-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9UPM8	Isoform 2 of AP-4 complex subunit epsilon-1		HUMAN		1062	UniRef100_Q9UPM8
UPI0007DC5386		HUMAN		843

Protein	Similar proteins		Species	Score	Length	Source
Q9UPM8	Isoform 2 of AP-4 complex subunit epsilon-1		HUMAN		1062	UniRef90_Q9UPM8
AP-4 complex subunit epsilon-1 isoform X1		DELLE		1201
Adaptor related protein complex 4 epsilon 1 subunit		PIG		1160
AP-4 complex subunit epsilon-1 (Fragment)		wild yak		1153
Uncharacterized protein (Fragment)		AILME		1151
+118

Protein	Similar proteins		Species	Score	Length	Source
Q9UPM8	AP-4 complex subunit epsilon-1		MOUSE		1122	UniRef50_Q9UPM8
Isoform 2 of AP-4 complex subunit epsilon-1		HUMAN		1062
AP-4 complex subunit epsilon-1 isoform X1		DELLE		1201
Adaptor related protein complex 4 epsilon 1 subunit		PIG		1160
AP-4 complex subunit epsilon-1 (Fragment)		wild yak		1153
+316

Entry informationⁱ

Entry nameⁱ	AP4E1_HUMAN
Accessionⁱ	Q9UPM8Primary (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 12, 2018
	This is version 153 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9UPM8 (AP4E1_HUMAN)

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AP-4 complex subunit epsilon-1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Golgi apparatus

Endosome

Golgi apparatus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Computationally mapped potential isoform sequencesⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ