Entrez Gene Home

Recent Activity

1: AP3B1 adaptor-related protein complex 3, beta 1 subunit [ Homo sapiens ]

GeneID: 8546 updated 8-Nov-2009

[Top][Help]Summary

Official Symbol
AP3B1provided by HGNC
Official Full Name
adaptor-related protein complex 3, beta 1 subunitprovided by HGNC
Primary Source
HGNC:566
See related
Ensembl:ENSG00000132842; HPRD:04551; MIM:603401
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PE; HPS; HPS2; ADTB3; ADTB3A; AP3B1
Summary
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. [provided by RefSeq]

[Top][Help]Genomic regions, transcripts, and products

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Experimental investigation of five specific genes, AP3B1, ATP6AP1, BLOC1S1, LAMP2, and RAB11A, has confirmed novel roles for these proteins in the proper initiation of macroautophagy in amino acid-starved fibroblasts.
PubMed 2. AP-1 and AP-3 are involved in the formation of distinct types of clathrin-coated vesicles, each of which is characterized by the incorporation of specific cargo membrane proteins
PubMed 3. Mutations in AP3B1 is not associated with familial hemophagocytic lymphohistiocytosis
PubMed 4. Observational study of gene-disease association. (HuGE Navigator)
PubMed 5. Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review)
PubMed 6. Two nonsense mutations in ADTB3A, C1578T (R-->X) and G2028T (E-->X), result in lack of ADTB3A mRNA and beta3A protein production and a severe, G-CSF-responsive neutropenia in addition to oculocutaneous albinism and platelet storage pool deficiency.
PubMed 7. A novel homozygous mutation in AP3B1 was detected in a 2-year-old patient with oculocutaneous albinism and immunodeficiency with Hermansky-Pudlak syndrome type II and eventual acute fatal hemophagocytic lymphohistiocytosis.
PubMed 8. We defined a homozygous genomic deletion in AP3B1, the gene encoding the beta chain of the adaptor protein-3 (AP-3) complex. The mutation leads to in-frame skipping of exon 15 and thus perturbs proper assembly of the heterotetrameric AP-3 complex.
Submit: New GeneRIF Correction

[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
 
  Beta adaptin 3A   NP_003450.2        HPRD    PubMed
 
  NP_003655.2   NP_005820.1        HPRD    PubMed
 
  NP_003655.2   Arrestin 3, retinal        HPRD    PubMed
 
  NP_003655.2   Casein kinase 1, alpha 1        HPRD    PubMed
Biochemical Activity
  BioGRID:114116   BioGRID:158370        BioGRID    PubMed
Affinity Capture-Western; Co-fractionation
  BioGRID:114116   BioGRID:115533        BioGRID    PubMed
Reconstituted Complex
  BioGRID:114116   BioGRID:106876        BioGRID    PubMed
Reconstituted Complex
  BioGRID:114116   BioGRID:106877        BioGRID    PubMed
Affinity Capture-MS
  BioGRID:114116   BioGRID:106901        BioGRID    PubMed
Affinity Capture-MS
  BioGRID:114116   BioGRID:106902        BioGRID    PubMed
Reconstituted Complex
  BioGRID:114116   BioGRID:113562        BioGRID    PubMed

[Top][Help]General gene information

Markers

SHGC-81837(e-PCR)
Links: UniSTS:103970
L31442(e-PCR)
Links: UniSTS:6958
AP3B1_8826(e-PCR)
Links: UniSTS:468282
A002S29(e-PCR)
Links: UniSTS:44135
SHGC-83541(e-PCR)
Links: UniSTS:101749
RH16414(e-PCR)
Links: UniSTS:25482
G63314(e-PCR)
Links: UniSTS:140427
SHGC-79370(e-PCR)
Links: UniSTS:184227
1842(e-PCR)
Links: UniSTS:2020

Phenotypes

Hermansky-Pudlak syndrome 2
MIM: 608233

Homology

Homologs of the AP3B1 gene The AP3B1 gene is conserved in chimpanzee, dog, cow, mouse, and rat.


Map Viewer (Mouse, Rat)

Pathways

KEGG pathway: Lysosome
04142
Reactome Event:Membrane Trafficking
REACT_11123

[Top][Help]General protein information

Preferred Names
adaptor-related protein complex 3, beta 1 subunit
Names
adaptor-related protein complex 3, beta 1 subunit
beta3A-adaptin
AP-3 complex beta-3A subunit

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

  1. NG_007268.1 RefSeqGene

    Range
    5000..297378
    Download
    GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003664.3 → NP_003655.3  adaptor-related protein complex 3, beta 1 subunit

    Source sequence(s)
    AL708147,BC038444
    Consensus CDS
    CCDS4041.1
    UniProtKB/Swiss-Prot
    O00203
    Conserved Domains (1) summary
    pfam01602
    Location:44 – 584
    Blast Score: 1320
    Adaptin_N; Adaptin N terminal region

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000005.9

    Range
    77298149..77590527, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_006713.15 

    Range
    27892508..28184886, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000048.1

    Range
    73192008..73483331, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_922729.1 

    Range
    6591852..6883175, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000137.1

    Range
    72504870..72797209, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001838951.1 

    Range
    6586761..6879100, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AC024568.6   None
  genomic   AC024578.3  (88138..109684)   None
  genomic   AC104108.3  (11222..32390)   None
  genomic   AC112197.3  (24231..175774)   None
  genomic   AF247736.2   AAG01739.1
  genomic   CH471084.1   EAW95811.1
       EAW95812.1
       EAW95813.1
  mRNA   AK225908.1   None
  mRNA   AK291201.1   BAF83890.1
  mRNA   AK303300.1   BAG64374.1
  mRNA   AL708147.1   None
  mRNA   AY623424.1   AAT49048.1
  mRNA   BC020230.1   None
  mRNA   BC038444.1   AAH38444.1
  mRNA   BX538041.1   CAD97982.1
  mRNA   U81504.1   AAB61638.1
  mRNA   U91931.1   AAD03778.1
  other-genetic   DQ894915.2   ABM85841.1
  other-genetic   EU176289.1   ABW03740.1
Protein Accession   Links
O00203.3   GenPept   UniProtKB/Swiss-Prot:O00203
Q3MNE1   GenPept   UniProtKB/TrEMBL:Q3MNE1

[Top][Help]Additional Links