Reviewed, UniProtKB/Swiss-Prot Q9UPM8 (AP4E1_HUMAN)

Names and origin

Protein names

Recommended name:
    AP-4 complex subunit epsilon-1
Alternative name(s):
    Adapter-related protein complex 4 subunit epsilon-1
    AP-4 adapter complex subunit epsilon
    Epsilon subunit of AP-4
    Epsilon-adaptin

Gene names

Name:

AP4E1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1137 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript 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	Adapter-like 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 apparatus › trans-Golgi network. Note= Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.
Tissue specificity	Widely expressed.
Sequence similarities	Belongs to the adaptor complexes large subunit family.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Golgi apparatus
Coding sequence diversity	Polymorphism
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 1137	1137	AP-4 complex subunit epsilon-1
Natural variations
	Natural variant	163	1	C → R: dbSNP rs2306331.
Experimental info
	Sequence conflict	30	1	A → G in AAD43326. Ref.1
	Sequence conflict	46	1	L → F in AAD43326. Ref.1
	Sequence conflict	214	1	L → P in AAD43326. Ref.1
	Sequence conflict	262 – 265	4	EFNY → NF in AAD43326. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9UPM8-1 [UniParc]. Last modified April 17, 2007. Version 2. Checksum: 1784E886EC922875	FASTA	1,137	127,287
	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

References

	« Hide 'large scale' referencesShow '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: 10436028] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. 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: 11409905] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-163.
[4]	"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: 16572171] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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. , 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].
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-163.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF155156 mRNA. Translation: AAD43326.2. AB030653 mRNA. Translation: BAA82969.1. AC073964 Genomic DNA. No translation available. CH471082 Genomic DNA. Translation: EAW77411.1. BC126308 mRNA. Translation: AAI26309.1. BC130466 mRNA. Translation: AAI30467.1.
RefSeq	NP_031373.2.
UniGene	Hs.413366
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UPM8.
PTM databases
PhosphoSite	Q9UPM8.
Genome annotation databases
Ensembl	ENSG00000081014. Homo sapiens. [Contig view]
GeneID	23431.
KEGG	hsa:23431.
Organism-specific databases
H-InvDB	HIX0038066.
HGNC	HGNC:573. AP4E1.
MIM	607244. gene.
PharmGKB	PA24865.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOVERGEN	Q9UPM8.
Gene expression databases
ArrayExpress	Q9UPM8.
CleanEx	HS_AP4E1.
GermOnline	ENSG00000081014. Homo sapiens.
Family and domain databases
InterPro	IPR017109. AP4_complex_esu. IPR011989. ARM-like. IPR002553. Clathrin/coatomer_adapt-like_N. IPR011710. Coatomer_bsu_C. [Graphical view]
Gene3D	G3DSA:1.25.10.10. ARM-like. 1 hit.
Pfam	PF01602. Adaptin_N. 1 hit. PF07718. Coatamer_beta_C. 1 hit. [Graphical view]
PIRSF	PIRSF037097. AP4_complex_epsilon. 1 hit.
ProDom	Q9UPM8. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

AP4E1_HUMAN

Accession

Primary (citable) accession number: Q9UPM8
Secondary accession number(s): A0AVD6 , A1L4A9, A6NNX7, Q9Y588

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	April 17, 2007
Last modified:	July 22, 2008
This is version 66 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)