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Protein

AP-4 complex subunit beta-1

Gene

AP4B1

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 - Molecular functioni

  • protein transporter activity Source: InterPro
  • transporter activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134262-MONOMER.
ReactomeiR-HSA-432720. Lysosome Vesicle Biogenesis.
R-HSA-432722. Golgi Associated Vesicle Biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
AP-4 complex subunit beta-1
Alternative name(s):
AP-4 adaptor complex subunit beta
Adaptor-related protein complex 4 subunit beta-1
Beta subunit of AP-4
Beta4-adaptin
Gene namesi
Name:AP4B1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:572. AP4B1.

Subcellular locationi

GO - Cellular componenti

  • clathrin adaptor complex Source: InterPro
  • clathrin-coated pit Source: UniProtKB-SubCell
  • endosome lumen Source: Reactome
  • trans-Golgi network Source: ProtInc
  • trans-Golgi network membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Coated pit, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 47, autosomal recessive (SPG47)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. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development.
See also OMIM:614066

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi10717.
MalaCardsiAP4B1.
MIMi614066. phenotype.
OpenTargetsiENSG00000134262.
Orphaneti280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBiPA24864.

Polymorphism and mutation databases

BioMutaiAP4B1.
DMDMi126302520.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001937501 – 739AP-4 complex subunit beta-1Add BLAST739

Proteomic databases

EPDiQ9Y6B7.
PaxDbiQ9Y6B7.
PeptideAtlasiQ9Y6B7.
PRIDEiQ9Y6B7.

PTM databases

iPTMnetiQ9Y6B7.
PhosphoSitePlusiQ9Y6B7.

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000134262.
CleanExiHS_AP4B1.
ExpressionAtlasiQ9Y6B7. baseline and differential.
GenevisibleiQ9Y6B7. HS.

Organism-specific databases

HPAiHPA028162.
HPA028399.
HPA028652.

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). Interacts with TEPSIN; this interaction requires the presence of a functional AP-4 complex.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ZNF576Q9H6095EBI-1047606,EBI-3921014

Protein-protein interaction databases

BioGridi115943. 8 interactors.
DIPiDIP-24209N.
IntActiQ9Y6B7. 8 interactors.
STRINGi9606.ENSP00000256658.

Structurei

Secondary structure

1739
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi628 – 637Combined sources10
Beta strandi641 – 647Combined sources7
Helixi654 – 663Combined sources10
Beta strandi667 – 671Combined sources5
Beta strandi677 – 687Combined sources11
Beta strandi692 – 699Combined sources8
Beta strandi701 – 703Combined sources3
Beta strandi705 – 714Combined sources10
Helixi717 – 735Combined sources19

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MJ7NMR-A610-739[»]
ProteinModelPortaliQ9Y6B7.
SMRiQ9Y6B7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1061. Eukaryota.
COG5096. LUCA.
GeneTreeiENSGT00530000063138.
HOGENOMiHOG000294128.
HOVERGENiHBG050521.
InParanoidiQ9Y6B7.
KOiK12401.
OMAiEPGNSEM.
OrthoDBiEOG091G058E.
PhylomeDBiQ9Y6B7.
TreeFamiTF354235.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
3.30.310.10. 1 hit.
InterProiIPR026739. 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]
PANTHERiPTHR11134. PTHR11134. 1 hit.
PfamiPF01602. Adaptin_N. 1 hit.
PF09066. B2-adapt-app_C. 1 hit.
[Graphical view]
PIRSFiPIRSF002291. AP_complex_beta. 1 hit.
SMARTiSM01020. B2-adapt-app_C. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9Y6B7-1) [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
MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF
60 70 80 90 100
MEMVKASATV DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM
110 120 130 140 150
VRGLALRSMC SLRMPGVQEY IQQPILNGLR DKASYVRRVA VLGCAKMHNL
160 170 180 190 200
HGDSEVDGAL VNELYSLLRD QDPIVVVNCL RSLEEILKQE GGVVINKPIA
210 220 230 240 250
HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL DSFLKSSSPG
260 270 280 290 300
VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
310 320 330 340 350
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE
360 370 380 390 400
ELRGYCTDVS ADFAQAAIFA IGGIARTYTD QCVQILTELL GLRQEHITTV
410 420 430 440 450
VVQTFRDLVW LCPQCTEAVC QALPGCEENI QDSEGKQALI WLLGVHGERI
460 470 480 490 500
PNAPYVLEDF VENVKSETFP AVKMELLTAL LRLFLSRPAE CQDMLGRLLY
510 520 530 540 550
YCIEEEKDMA VRDRGLFYYR LLLVGIDEVK RILCSPKSDP TLGLLEDPAE
560 570 580 590 600
RPVNSWASDF NTLVPVYGKA HWATISKCQG AERCDPELPK TSSFAASGPL
610 620 630 640 650
IPEENKERVQ ELPDSGALML VPNRQLTADY FEKTWLSLKV AHQQVLPWRG
660 670 680 690 700
EFHPDTLQMA LQVVNIQTIA MSRAGSRPWK AYLSAQDDTG CLFLTELLLE
710 720 730
PGNSEMQISV KQNEARTETL NSFISVLETV IGTIEEIKS
Length:739
Mass (Da):83,260
Last modified:February 20, 2007 - v2
Checksum:iB6FC92215BDA5EDC
GO
Isoform 2 (identifier: Q9Y6B7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-205: Missing.
     373-395: GIARTYTDQCVQILTELLGLRQE → RCLLLFLLENLDQPARKLWLEEP
     396-739: Missing.

Note: No experimental confirmation available.
Show »
Length:302
Mass (Da):34,403
Checksum:i4B5F9E603C76C5B5
GO

Sequence cautioni

The sequence BAD93054 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti140A → V in AAD20448 (PubMed:10066790).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030804480L → S.2 PublicationsCorresponds to variant rs1217401dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055787113 – 205Missing in isoform 2. 1 PublicationAdd BLAST93
Alternative sequenceiVSP_055788373 – 395GIART…GLRQE → RCLLLFLLENLDQPARKLWL EEP in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_055789396 – 739Missing in isoform 2. 1 PublicationAdd BLAST344

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF092094 mRNA. Translation: AAD20448.1.
AK298037 mRNA. Translation: BAH12709.1.
AB209817 mRNA. Translation: BAD93054.1. Different initiation.
AL137856 Genomic DNA. Translation: CAI19072.1.
BC014146 mRNA. Translation: AAH14146.1.
CCDSiCCDS865.1. [Q9Y6B7-1]
RefSeqiNP_001240781.1. NM_001253852.2. [Q9Y6B7-1]
NP_001240782.1. NM_001253853.2.
NP_001295241.1. NM_001308312.1.
NP_006585.2. NM_006594.4. [Q9Y6B7-1]
UniGeneiHs.515048.
Hs.736555.

Genome annotation databases

EnsembliENST00000256658; ENSP00000256658; ENSG00000134262. [Q9Y6B7-1]
ENST00000369569; ENSP00000358582; ENSG00000134262. [Q9Y6B7-1]
GeneIDi10717.
KEGGihsa:10717.
UCSCiuc001eeb.4. human. [Q9Y6B7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF092094 mRNA. Translation: AAD20448.1.
AK298037 mRNA. Translation: BAH12709.1.
AB209817 mRNA. Translation: BAD93054.1. Different initiation.
AL137856 Genomic DNA. Translation: CAI19072.1.
BC014146 mRNA. Translation: AAH14146.1.
CCDSiCCDS865.1. [Q9Y6B7-1]
RefSeqiNP_001240781.1. NM_001253852.2. [Q9Y6B7-1]
NP_001240782.1. NM_001253853.2.
NP_001295241.1. NM_001308312.1.
NP_006585.2. NM_006594.4. [Q9Y6B7-1]
UniGeneiHs.515048.
Hs.736555.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MJ7NMR-A610-739[»]
ProteinModelPortaliQ9Y6B7.
SMRiQ9Y6B7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115943. 8 interactors.
DIPiDIP-24209N.
IntActiQ9Y6B7. 8 interactors.
STRINGi9606.ENSP00000256658.

PTM databases

iPTMnetiQ9Y6B7.
PhosphoSitePlusiQ9Y6B7.

Polymorphism and mutation databases

BioMutaiAP4B1.
DMDMi126302520.

Proteomic databases

EPDiQ9Y6B7.
PaxDbiQ9Y6B7.
PeptideAtlasiQ9Y6B7.
PRIDEiQ9Y6B7.

Protocols and materials databases

DNASUi10717.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256658; ENSP00000256658; ENSG00000134262. [Q9Y6B7-1]
ENST00000369569; ENSP00000358582; ENSG00000134262. [Q9Y6B7-1]
GeneIDi10717.
KEGGihsa:10717.
UCSCiuc001eeb.4. human. [Q9Y6B7-1]

Organism-specific databases

CTDi10717.
DisGeNETi10717.
GeneCardsiAP4B1.
HGNCiHGNC:572. AP4B1.
HPAiHPA028162.
HPA028399.
HPA028652.
MalaCardsiAP4B1.
MIMi607245. gene.
614066. phenotype.
neXtProtiNX_Q9Y6B7.
OpenTargetsiENSG00000134262.
Orphaneti280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBiPA24864.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1061. Eukaryota.
COG5096. LUCA.
GeneTreeiENSGT00530000063138.
HOGENOMiHOG000294128.
HOVERGENiHBG050521.
InParanoidiQ9Y6B7.
KOiK12401.
OMAiEPGNSEM.
OrthoDBiEOG091G058E.
PhylomeDBiQ9Y6B7.
TreeFamiTF354235.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134262-MONOMER.
ReactomeiR-HSA-432720. Lysosome Vesicle Biogenesis.
R-HSA-432722. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

GeneWikiiAP4B1.
GenomeRNAii10717.
PROiQ9Y6B7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134262.
CleanExiHS_AP4B1.
ExpressionAtlasiQ9Y6B7. baseline and differential.
GenevisibleiQ9Y6B7. HS.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
3.30.310.10. 1 hit.
InterProiIPR026739. 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]
PANTHERiPTHR11134. PTHR11134. 1 hit.
PfamiPF01602. Adaptin_N. 1 hit.
PF09066. B2-adapt-app_C. 1 hit.
[Graphical view]
PIRSFiPIRSF002291. AP_complex_beta. 1 hit.
SMARTiSM01020. B2-adapt-app_C. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiAP4B1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6B7
Secondary accession number(s): B7Z4X3, Q59EJ4, Q96CL6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: February 20, 2007
Last modified: November 30, 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.