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    Ap4b1 adaptor-related protein complex AP-4, beta 1 [ Mus musculus (house mouse) ]

    Gene ID: 67489, updated on 10-Dec-2024

    Summary

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    Official Symbol
    Ap4b1provided by MGI
    Official Full Name
    adaptor-related protein complex AP-4, beta 1provided by MGI
    Primary source
    MGI:MGI:1337130
    See related
    Ensembl:ENSMUSG00000032952 AllianceGenome:MGI:1337130
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ap4b4; 1810038H16Rik
    Summary
    Predicted to enable clathrin binding activity. Involved in protein localization to somatodendritic compartment and protein targeting. Located in trans-Golgi network. Is expressed in cerebral cortex ventricular layer and cortical plate. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 47. Orthologous to human AP4B1 (adaptor related protein complex 4 subunit beta 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 13.7), limb E14.5 (RPKM 8.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ap4b1 in Genome Data Viewer
    Location:
    3 F2.2; 3 45.52 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (103716375..103729341)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (103809511..103822025)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene homeodomain interacting protein kinase 1 Neighboring gene STARR-seq mESC enhancer starr_08602 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:103577942-103578125 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:103581922-103582188 Neighboring gene predicted gene 15886 Neighboring gene STARR-positive B cell enhancer ABC_E11207 Neighboring gene DNA cross-link repair 1B Neighboring gene predicted gene 15471 Neighboring gene STARR-positive B cell enhancer ABC_E7934 Neighboring gene STARR-seq mESC enhancer starr_08603 Neighboring gene BCLl2-like 15 Neighboring gene STARR-positive B cell enhancer ABC_E3458 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:103663204-103663387 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:103664081-103664275 Neighboring gene STARR-positive B cell enhancer ABC_E6094 Neighboring gene protein tyrosine phosphatase, non-receptor type 22 (lymphoid) Neighboring gene STARR-positive B cell enhancer ABC_E2090 Neighboring gene STARR-seq mESC enhancer starr_08604

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47. Wiseman JP, et al. EMBO Mol Med, 2024 Nov. PMID 39358605, Free PMC Article
    2. Axonal autophagosome maturation defect through failure of ATG9A sorting underpins pathology in AP-4 deficiency syndrome. Ivankovic D, et al. Autophagy, 2020 Mar. PMID 31142229, Free PMC Article
    3. Characterization of a fourth adaptor-related protein complex. Hirst J, et al. Mol Biol Cell, 1999 Aug. PMID 10436028, Free PMC Article
    4. AP-4, a novel protein complex related to clathrin adaptors. Dell'Angelica EC, et al. J Biol Chem, 1999 Mar 12. PMID 10066790
    5. Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4. Matsuda S, et al. Neuron, 2008 Mar 13. PMID 18341993

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables clathrin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within intracellular protein transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization to somatodendritic compartment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein targeting IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    part_of AP-4 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of AP-4 adaptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of AP-4 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of clathrin adaptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic side of trans-Golgi network transport vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic side of trans-Golgi network transport vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in trans-Golgi network NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in trans-Golgi network TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    AP-4 complex subunit beta-1
    Names
    AP-4 adapter complex subunit beta
    AP-4 adaptor complex subunit beta
    AP-4 beta-4
    adapter-related protein complex 4 subunit beta-1
    adaptor-related protein complex 4 subunit beta-1
    beta subunit of AP-4
    beta4-adaptin

    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_001163552.1 → NP_001157024.1  AP-4 complex subunit beta-1 isoform a

      See identical proteins and their annotated locations for NP_001157024.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK007733, BC056200, BE630857, BY129343
      Consensus CDS
      CCDS17696.1
      UniProtKB/Swiss-Prot
      B0V3P2, Q9WV76
      UniProtKB/TrEMBL
      Q9D8S2
      Related
      ENSMUSP00000075904.2, ENSMUST00000076599.8
      Conserved Domains (3) summary
      sd00044
      Location:86 → 113
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:9 → 525
      Adaptin_N; Adaptin N terminal region
      pfam09066
      Location:620 → 730
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

    2. NM_001163553.1 → NP_001157025.1  AP-4 complex subunit beta-1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK007733, BC056200, BE630857, BY129343
      Consensus CDS
      CCDS51026.1
      UniProtKB/TrEMBL
      B0V3P4, Q3TN27
      Related
      ENSMUSP00000102436.2, ENSMUST00000106823.8
      Conserved Domains (4) summary
      smart01020
      Location:591 → 703
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      pfam01602
      Location:9 → 497
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:98 → 235
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:86 → 113
      HEAT; HEAT repeat [structural motif]

    3. NM_026193.2 → NP_080469.2  AP-4 complex subunit beta-1 isoform a

      See identical proteins and their annotated locations for NP_080469.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK007733, BC056200, BE630857, BY129343
      Consensus CDS
      CCDS17696.1
      UniProtKB/Swiss-Prot
      B0V3P2, Q9WV76
      UniProtKB/TrEMBL
      Q9D8S2
      Related
      ENSMUSP00000044262.3, ENSMUST00000047285.7
      Conserved Domains (3) summary
      sd00044
      Location:86 → 113
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:9 → 525
      Adaptin_N; Adaptin N terminal region
      pfam09066
      Location:620 → 730
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      103716375..103729341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163245.1 → XP_036019138.1  AP-4 complex subunit beta-1 isoform X1

      UniProtKB/Swiss-Prot
      B0V3P2, Q9WV76
      UniProtKB/TrEMBL
      Q9D8S2
      Conserved Domains (3) summary
      sd00044
      Location:86 → 113
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:9 → 525
      Adaptin_N; Adaptin N terminal region
      pfam09066
      Location:620 → 730
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

    2. XM_036163246.1 → XP_036019139.1  AP-4 complex subunit beta-1 isoform X1

      UniProtKB/Swiss-Prot
      B0V3P2, Q9WV76
      UniProtKB/TrEMBL
      Q9D8S2
      Conserved Domains (3) summary
      sd00044
      Location:86 → 113
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:9 → 525
      Adaptin_N; Adaptin N terminal region
      pfam09066
      Location:620 → 730
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

    3. XM_006501932.1 → XP_006501995.1  AP-4 complex subunit beta-1 isoform X2

      See identical proteins and their annotated locations for XP_006501995.1

      UniProtKB/TrEMBL
      Q9D8S2
      Conserved Domains (3) summary
      smart01020
      Location:603 → 715
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:70 → 97
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:24 → 509
      Adaptin_N; Adaptin N terminal region

    4. XM_006501933.4 → XP_006501996.1  AP-4 complex subunit beta-1 isoform X2

      See identical proteins and their annotated locations for XP_006501996.1

      UniProtKB/TrEMBL
      Q9D8S2
      Conserved Domains (3) summary
      smart01020
      Location:603 → 715
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:70 → 97
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:24 → 509
      Adaptin_N; Adaptin N terminal region

    RNA

    1. XR_375568.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9WV76.2 GenPept UniProtKB/Swiss-Prot:Q9WV76

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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