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

Gene ID: 67489, updated on 5-Mar-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
Involved in protein localization to somatodendritic compartment and protein targeting. Located in trans-Golgi network. 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, Apr 2022]
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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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. 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
  2. Characterization of a fourth adaptor-related protein complex. Hirst J, et al. Mol Biol Cell, 1999 Aug. PMID 10436028, Free PMC Article
  3. AP-4, a novel protein complex related to clathrin adaptors. Dell'Angelica EC, et al. J Biol Chem, 1999 Mar 12. PMID 10066790
  4. Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4. Matsuda S, et al. Neuron, 2008 Mar 13. PMID 18341993
  5. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article

See all (18) 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)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (3) 

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 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 NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytoplasmic side of trans-Golgi network transport vesicle membrane ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
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

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