Q9Y6B7 (AP4B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
AP-4 complex subunit beta-1

Alternative name(s):
AP-4 adapter complex subunit beta
Adapter-related protein complex 4 subunit beta-1
Beta subunit of AP-4
Beta4-adaptin

Gene names

Name:

AP4B1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	739 AA.
Sequence status	Complete.
Protein existence	Evidence 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	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). Interacts with ENTHD2; this interaction requires the presence of a functional AP-4 complex. Ref.6
Subcellular location	Golgi apparatus › trans-Golgi network. Note: Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells. Ref.6
Tissue specificity	Widely expressed.
Involvement in disease	Cerebral palsy, spastic quadriplegic 5 (CPSQ5) [MIM:614066]: A neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5
Sequence similarities	Belongs to the adaptor complexes large subunit family.
Sequence caution	The sequence BAD93054.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Golgi apparatus
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	intracellular protein transport Inferred from electronic annotation. Source: InterPro vesicle-mediated transport Inferred from electronic annotation. Source: InterPro
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell clathrin adaptor complex Inferred from electronic annotation. Source: InterPro trans-Golgi network Traceable author statement Ref.1. Source: ProtInc
Molecular_function	protein transporter activity Inferred from electronic annotation. Source: InterPro transporter activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 739	739	AP-4 complex subunit beta-1		PRO_0000193750
Natural variations
	Natural variant	480	1	L → S. Ref.1 Ref.2 Corresponds to variant rs1217401 [ dbSNP | Ensembl ].		VAR_030804
Experimental info
	Sequence conflict	140	1	A → V in AAD20448. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9Y6B7 [UniParc]. Last modified February 20, 2007. Version 2. Checksum: B6FC92215BDA5EDC	FASTA	739	83,260
	10 20 30 40 50 60 MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV 70 80 90 100 110 120 DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY 130 140 150 160 170 180 IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL 190 200 210 220 230 240 RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL 250 260 270 280 290 300 DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV 310 320 330 340 350 360 RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS 370 380 390 400 410 420 ADFAQAAIFA IGGIARTYTD QCVQILTELL GLRQEHITTV VVQTFRDLVW LCPQCTEAVC 430 440 450 460 470 480 QALPGCEENI QDSEGKQALI WLLGVHGERI PNAPYVLEDF VENVKSETFP AVKMELLTAL 490 500 510 520 530 540 LRLFLSRPAE CQDMLGRLLY YCIEEEKDMA VRDRGLFYYR LLLVGIDEVK RILCSPKSDP 550 560 570 580 590 600 TLGLLEDPAE RPVNSWASDF NTLVPVYGKA HWATISKCQG AERCDPELPK TSSFAASGPL 610 620 630 640 650 660 IPEENKERVQ ELPDSGALML VPNRQLTADY FEKTWLSLKV AHQQVLPWRG EFHPDTLQMA 670 680 690 700 710 720 LQVVNIQTIA MSRAGSRPWK AYLSAQDDTG CLFLTELLLE PGNSEMQISV KQNEARTETL 730 NSFISVLETV IGTIEEIKS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"AP-4, a novel protein complex related to clathrin adaptors." Dell'Angelica E.C., Mullins C., Bonifacino J.S. J. Biol. Chem. 274:7278-7285(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-480. Tissue: Skeletal muscle.
[2]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-480. Tissue: Brain.
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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]. Tissue: Skin.
[5]	"Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature." Abou Jamra R., Philippe O., Raas-Rothschild A., Eck S.H., Graf E., Buchert R., Borck G., Ekici A., Brockschmidt F.F., Nothen M.M., Munnich A., Strom T.M., Reis A., Colleaux L. Am. J. Hum. Genet. 88:788-795(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN CPSQ5.
[6]	"Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles." Borner G.H., Antrobus R., Hirst J., Bhumbra G.S., Kozik P., Jackson L.P., Sahlender D.A., Robinson M.S. J. Cell Biol. 197:141-160(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH ENTHD2, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF092094 mRNA. Translation: AAD20448.1. AB209817 mRNA. Translation: BAD93054.1. Different initiation. AL137856 Genomic DNA. Translation: CAI19072.1. BC014146 mRNA. Translation: AAH14146.1.
IPI	IPI00002150.
RefSeq	NP_001240781.1. NM_001253852.1. NP_001240782.1. NM_001253853.1. NP_006585.2. NM_006594.3.
UniGene	Hs.515048.
3D structure databases
ProteinModelPortal	Q9Y6B7.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-24209N.
IntAct	Q9Y6B7. 1 interaction.
STRING	9606.ENSP00000256658.
PTM databases
PhosphoSite	Q9Y6B7.
Polymorphism databases
DMDM	126302520.
Proteomic databases
PaxDb	Q9Y6B7.
PRIDE	Q9Y6B7.
Protocols and materials databases
DNASU	10717.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000256658; ENSP00000256658; ENSG00000134262. ENST00000369569; ENSP00000358582; ENSG00000134262.
GeneID	10717.
KEGG	hsa:10717.
UCSC	uc001eeb.3. human.
Organism-specific databases
CTD	10717.
GeneCards	GC01M114437.
HGNC	HGNC:572. AP4B1.
HPA	HPA028162. HPA028399. HPA028652.
MIM	607245. gene. 614066. phenotype.
neXtProt	NX_Q9Y6B7.
Orphanet	280763. Severe intellectual deficit and progressive spastic paraplegia.
PharmGKB	PA24864.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5096.
HOGENOM	HOG000294128.
HOVERGEN	HBG050521.
InParanoid	Q9Y6B7.
KO	K12401.
OMA	RPWKAYL.
OrthoDB	EOG48KR9Z.
PhylomeDB	Q9Y6B7.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
ArrayExpress	Q9Y6B7.
Bgee	Q9Y6B7.
CleanEx	HS_AP4B1.
Genevestigator	Q9Y6B7.
GermOnline	ENSG00000134262. Homo sapiens.
Family and domain databases
Gene3D	1.25.10.10. 1 hit. 3.30.310.10. 1 hit.
InterPro	IPR026739. AP_beta. IPR016342. AP_complex_bsu_1_2_4. IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR015151. B-adaptin_app_sub_C. IPR012295. Beta2_adaptin/TBP_C_dom. IPR002553. Clathrin/coatomer_adapt-like_N. [Graphical view]
PANTHER	PTHR11134. PTHR11134. 1 hit.
Pfam	PF01602. Adaptin_N. 1 hit. PF09066. B2-adapt-app_C. 1 hit. [Graphical view]
PIRSF	PIRSF002291. AP_complex_beta. 1 hit.
SMART	SM01020. B2-adapt-app_C. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	10717.
NextBio	40689.
SOURCE	Search...

Entry information

Entry name

AP4B1_HUMAN

Accession

Primary (citable) accession number: Q9Y6B7
Secondary accession number(s): Q59EJ4, Q96CL6

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	February 20, 2007
Last modified:	May 1, 2013
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.