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Gene: AP3B1 (adaptor related protein complex 3 subunit beta 1) Homo sapiens
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Symbol: AP3B1
Name: adaptor related protein complex 3 subunit beta 1
CRRD ID: 1321051
Description: Exhibits GTP-dependent protein binding activity and protein phosphatase binding activity. Involved in melanosome organization. Localizes to lysosomal membrane. Implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 2; interstitial lung disease; neutropenia; and pulmonary fibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adapter-related protein complex 3 subunit beta-1; adaptor protein complex AP-3 subunit beta-1; adaptor related protein complex 3 beta 1 subunit; adaptor related protein complex 3, beta 1 subunit; adaptor-related protein complex 3 subunit beta-1; adaptor-related protein complex 3, beta 1 subunit; ADTB3; ADTB3A; AP-3 complex beta-3A subunit; AP-3 complex subunit beta-1; beta-3A-adaptin; beta3A-adaptin; clathrin assembly protein complex 3 beta-1 large chain; HPS; HPS2; PE
Orthologs:
Mus musculus (house mouse) : Ap3b1 (adaptor-related protein complex 3, beta 1 subunit)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ap3b1 (adaptor related protein complex 3 subunit beta 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ap3b1 (adaptor related protein complex 3 subunit beta 1)
Pan paniscus (bonobo/pygmy chimpanzee) : AP3B1 (adaptor related protein complex 3 subunit beta 1)
Canis lupus familiaris (dog) : AP3B1 (adaptor related protein complex 3 subunit beta 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ap3b1 (adaptor related protein complex 3 subunit beta 1)
Sus scrofa (pig) : AP3B1 (adaptor related protein complex 3 subunit beta 1)
Chlorocebus sabaeus (African green monkey) : AP3B1 (adaptor related protein complex 3 subunit beta 1)
Heterocephalus glaber (naked mole-rat) : Ap3b1 (adaptor related protein complex 3 subunit beta 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl578,000,525 - 78,294,755 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl578,002,326 - 78,294,698 (-)EnsemblGRCh38hg38GRCh38
GRCh38578,000,522 - 78,294,704 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37577,298,150 - 77,590,579 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36577,333,906 - 77,626,284 (-)NCBINCBI36hg18NCBI36
Build 34577,333,906 - 77,626,284NCBI
Celera573,192,009 - 73,483,332 (-)NCBI
Cytogenetic Map5q14.1NCBI
HuRef572,504,871 - 72,797,261 (-)NCBIHuRef
CHM1_1576,732,015 - 77,024,021 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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References - curated
References - uncurated

Genomics

Comparative Map Data
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miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on AP3B1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1321051
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.