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    AP5B1 adaptor related protein complex 5 subunit beta 1 [ Homo sapiens (human) ]

    Gene ID: 91056, updated on 5-Mar-2024

    Summary

    Official Symbol
    AP5B1provided by HGNC
    Official Full Name
    adaptor related protein complex 5 subunit beta 1provided by HGNC
    Primary source
    HGNC:HGNC:25104
    See related
    Ensembl:ENSG00000254470 MIM:614367; AllianceGenome:HGNC:25104
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AP-5; PP1030
    Summary
    Involved in endosomal transport. Located in lysosomal membrane. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in bone marrow (RPKM 18.6), spleen (RPKM 4.9) and 24 other tissues See more
    Orthologs
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    Genomic context

    See AP5B1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65773898..65780976, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65768361..65775439, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65541369..65548447, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5003 Neighboring gene ribonuclease H2 subunit C Neighboring gene lysine acetyltransferase 5 Neighboring gene keratin 8 pseudogene 26 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65544816-65545720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65547529-65548431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65549161-65549818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65553239-65554220 Neighboring gene uncharacterized LOC124902693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5005 Neighboring gene OVOL1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65563211-65563711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65565291-65565814 Neighboring gene ovo like transcriptional repressor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65568897-65569617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3557 Neighboring gene Sharpr-MPRA regulatory region 4974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3558 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65601289-65601501 Neighboring gene sorting nexin 32 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5009 Neighboring gene Sharpr-MPRA regulatory region 3467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65618925-65619786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5011

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp761E198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of AP-5 adaptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of AP-type membrane coat adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of AP-type membrane coat adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in lysosomal membrane HDA PubMed 

    General protein information

    Preferred Names
    AP-5 complex subunit beta-1
    Names
    AP-5 complex subunit beta
    adaptor related protein complex 5 beta 1 subunit
    adaptor-related protein complex 5 beta subunit
    beta5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_138368.5NP_612377.4  AP-5 complex subunit beta-1

      See identical proteins and their annotated locations for NP_612377.4

      Status: VALIDATED

      Source sequence(s)
      AP001266, BC109109, JQ313135
      Consensus CDS
      CCDS58146.1
      UniProtKB/Swiss-Prot
      A1L0S6, H6WUK2, Q0D2Q2, Q2VPB7, Q8N3J7, Q8WYH6
      Related
      ENSP00000454303.1, ENST00000532090.3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65773898..65780976 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65768361..65775439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)