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Q9Y6B7 (AP4B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length739 AA.
Sequence statusComplete.
Protein existenceEvidence 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

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). Interacts with ENTHD2; this interaction requires the presence of a functional AP-4 complex. Ref.6

Subcellular location

Golgi apparatustrans-Golgi network. Membranecoated pit By similarity. 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 739739AP-4 complex subunit beta-1
PRO_0000193750

Natural variations

Natural variant4801L → S. Ref.1 Ref.2
Corresponds to variant rs1217401 [ dbSNP | Ensembl ].
VAR_030804

Experimental info

Sequence conflict1401A → V in AAD20448. Ref.1

Secondary structure

................... 739
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9Y6B7 [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: B6FC92215BDA5EDC

FASTA73983,260
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.
[7]"Solution NMR structure of beta-adaptin appendage domain of human adapter protein complex 4 subunit beta, Northeast structural genomics consortium (NESG) target HR8998C."
Northeast structural genomics consortium (NESG)
Submitted (JAN-2014) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 610-739.
+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.
CCDSCCDS865.1.
RefSeqNP_001240781.1. NM_001253852.1.
NP_001240782.1. NM_001253853.1.
NP_006585.2. NM_006594.3.
UniGeneHs.515048.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2MJ7NMR-A610-739[»]
ProteinModelPortalQ9Y6B7.
SMRQ9Y6B7. Positions 37-537, 609-739.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115943. 5 interactions.
DIPDIP-24209N.
IntActQ9Y6B7. 1 interaction.
STRING9606.ENSP00000256658.

PTM databases

PhosphoSiteQ9Y6B7.

Polymorphism databases

DMDM126302520.

Proteomic databases

MaxQBQ9Y6B7.
PaxDbQ9Y6B7.
PRIDEQ9Y6B7.

Protocols and materials databases

DNASU10717.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256658; ENSP00000256658; ENSG00000134262.
ENST00000369569; ENSP00000358582; ENSG00000134262.
GeneID10717.
KEGGhsa:10717.
UCSCuc001eeb.3. human.

Organism-specific databases

CTD10717.
GeneCardsGC01M114437.
HGNCHGNC:572. AP4B1.
HPAHPA028162.
HPA028399.
HPA028652.
MIM607245. gene.
614066. phenotype.
neXtProtNX_Q9Y6B7.
Orphanet280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBPA24864.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5096.
HOGENOMHOG000294128.
HOVERGENHBG050521.
InParanoidQ9Y6B7.
KOK12401.
OMARPWKAYL.
PhylomeDBQ9Y6B7.
TreeFamTF354235.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressQ9Y6B7.
BgeeQ9Y6B7.
CleanExHS_AP4B1.
GenevestigatorQ9Y6B7.

Family and domain databases

Gene3D1.25.10.10. 1 hit.
3.30.310.10. 1 hit.
InterProIPR026739. 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]
PANTHERPTHR11134. PTHR11134. 1 hit.
PfamPF01602. Adaptin_N. 1 hit.
PF09066. B2-adapt-app_C. 1 hit.
[Graphical view]
PIRSFPIRSF002291. AP_complex_beta. 1 hit.
SMARTSM01020. B2-adapt-app_C. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
ProtoNetSearch...

Other

GeneWikiAP4B1.
GenomeRNAi10717.
NextBio40689.
PROQ9Y6B7.
SOURCESearch...

Entry information

Entry nameAP4B1_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM