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    AP4B1 adaptor related protein complex 4 subunit beta 1 [ Homo sapiens (human) ]

    Gene ID: 10717, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AP4B1provided by HGNC
    Official Full Name
    adaptor related protein complex 4 subunit beta 1provided by HGNC
    Primary source
    HGNC:HGNC:572
    See related
    Ensembl:ENSG00000134262 MIM:607245; AllianceGenome:HGNC:572
    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
    CPSQ5; SPG47; BETA-4
    Summary
    This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in bone marrow (RPKM 6.1), spleen (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AP4B1 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (113894194..113905028, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (113905856..113916690, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (114436816..114447650, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene AP4B1 antisense RNA 1 Neighboring gene protein tyrosine phosphatase non-receptor type 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1538 Neighboring gene BCL2 like 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1541 Neighboring gene GATA motif-containing MPRA enhancer 196 Neighboring gene DNA cross-link repair 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1217 Neighboring gene HIPK1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:114480377-114480904 Neighboring gene homeodomain interacting protein kinase 1 Neighboring gene MPRA-validated peak375 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:114519457-114520034 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:114521340-114522173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:114523841-114524673 Neighboring gene olfactomedin like 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . Bauer P, et al. Neurogenetics, 2012 Feb. PMID 22290197
    2. A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies. Accogli A, et al. Am J Med Genet A, 2018 Apr. PMID 29430868
    3. Clinical and genetic characterization of AP4B1-associated SPG47. Ebrahimi-Fakhari D, et al. Am J Med Genet A, 2018 Feb. PMID 29193663
    4. AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. Szczałuba K, et al. J Appl Genet, 2020 May. PMID 32166732, Free PMC Article
    5. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. Abdollahpour H, et al. Eur J Hum Genet, 2015 Feb. PMID 24781758, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
      Title: AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
    2. AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.
      Title: AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.
    3. AP4B1 mutation is associated with hereditary spastic paraplegia.
      Title: Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
    4. AP4B1-associated HSP and other AP-4-deficiency syndromes should be suspected in infants and children with hypotonia progressing to spastic paraplegia, delayed motor and speech development, and suggestive findings on brain imaging particularly thinning of the posterior aspect of the corpus callosum.
      Title: Clinical and genetic characterization of AP4B1-associated SPG47.
    5. we report a novel AP4B1 homozygous mutation in two siblings and review the phenotype of AP-4 deficiency, speculating on a possible role of AP-4 complex in eye development.
      Title: A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
    6. Novel homozygous 2-bp deletion in AP4B1 was found in siblings with intellectual disability and spastic tetraplegia.
      Title: An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
    7. Data suggest that AP4B1 mutations cause spastic paraplegia type 47 and should be considered in early onset spastic paraplegia with intellectual disability.
      Title: Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 47
    MedGen: C3279738 OMIM: 614066 GeneReviews: AP-4-Associated Hereditary Spastic Paraplegia
    		Compare labs

    EBI GWAS Catalog

    Description
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    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
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in protein localization to somatodendritic compartment IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein targeting IC
    Inferred by Curator
    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 
    Component Evidence Code Pubs
    part_of AP-4 adaptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    AP-4 complex subunit beta-1
    Names
    AP-4 adaptor complex subunit beta
    adaptor related protein complex 4 beta 1 subunit
    beta 4 subunit of AP-4
    beta4-adaptin
    spastic paraplegia 47

    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.

    Genomic

    1. NG_031901.1 RefSeqGene

      Range
      5321..15926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001253852.3 → NP_001240781.1  AP-4 complex subunit beta-1 isoform 1

      See identical proteins and their annotated locations for NP_001240781.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AI431352, AL137856, AW072594, BC014146, DC368382
      Consensus CDS
      CCDS865.1
      UniProtKB/Swiss-Prot
      B7Z4X3, Q59EJ4, Q96CL6, Q9Y6B7
      UniProtKB/TrEMBL
      B2RBF6
      Related
      ENSP00000358582.1, ENST00000369569.6
      Conserved Domains (3) summary
      sd00044
      Location:86 → 113
      HEAT; HEAT repeat [structural motif]
      pfam09066
      Location:621 → 730
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      cl26317
      Location:9 → 525
      Adaptin_N; Adaptin N terminal region

    2. NM_001253853.3 → NP_001240782.1  AP-4 complex subunit beta-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate acceptor splice site at an internal exon compared to variant 1. This results in translation initiation from an in-frame downstream start site, and an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AI431352, AK300204, AL137856, AW072594, BC014146, HY012945
      UniProtKB/TrEMBL
      B4DTG3
      Conserved Domains (4) summary
      pfam01602
      Location:1 → 426
      Adaptin_N; Adaptin N terminal region
      pfam09066
      Location:522 → 631
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      pfam12717
      Location:2 → 166
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:22 → 50
      HEAT; HEAT repeat [structural motif]

    3. NM_001308312.2 → NP_001295241.1  AP-4 complex subunit beta-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks multiple consecutive in-frame exons in the 5' coding region, compared to variant 1. The resulting protein (isoform 3) has the same N- and C-termini, but is shorter than isoform 1.
      Source sequence(s)
      AI431352, AK093740, AL137856, AW072594, BC014146
      Consensus CDS
      CCDS76192.1
      UniProtKB/TrEMBL
      B1ALD0, B1ALD3, B3KSJ4
      Related
      ENSP00000358580.1, ENST00000369567.6
      Conserved Domains (2) summary
      pfam01602
      Location:13 → 357
      Adaptin_N; Adaptin N terminal region
      pfam09066
      Location:453 → 562
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

    4. NM_006594.5 → NP_006585.2  AP-4 complex subunit beta-1 isoform 1

      See identical proteins and their annotated locations for NP_006585.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AI431352, AL137856, AW072594, BC014146, HY012945
      Consensus CDS
      CCDS865.1
      UniProtKB/Swiss-Prot
      B7Z4X3, Q59EJ4, Q96CL6, Q9Y6B7
      UniProtKB/TrEMBL
      B2RBF6
      Related
      ENSP00000256658.4, ENST00000256658.8
      Conserved Domains (3) summary
      sd00044
      Location:86 → 113
      HEAT; HEAT repeat [structural motif]
      pfam09066
      Location:621 → 730
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      cl26317
      Location:9 → 525
      Adaptin_N; Adaptin N terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      113894194..113905028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000090.2 → XP_016855579.1  AP-4 complex subunit beta-1 isoform X5

      UniProtKB/TrEMBL
      B1ALD0, B1ALD3, B3KSJ4
      Related
      ENSP00000393622.2, ENST00000432415.6
      Conserved Domains (2) summary
      pfam01602
      Location:13 → 357
      Adaptin_N; Adaptin N terminal region
      pfam09066
      Location:453 → 562
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

    2. XM_024452435.2 → XP_024308203.1  AP-4 complex subunit beta-1 isoform X6

      UniProtKB/TrEMBL
      B4DTG3
      Conserved Domains (3) summary
      sd00044
      Location:46 → 74
      HEAT; HEAT repeat [structural motif]
      pfam09066
      Location:442 → 551
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      pfam12717
      Location:37 → 185
      Cnd1; non-SMC mitotic condensation complex subunit 1

    3. XM_011540523.4 → XP_011538825.1  AP-4 complex subunit beta-1 isoform X2

      See identical proteins and their annotated locations for XP_011538825.1

      UniProtKB/TrEMBL
      B1ALD1, B4DTG3
      Related
      ENSP00000358577.2, ENST00000369564.6
      Conserved Domains (3) summary
      smart01020
      Location:545 → 657
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      PTZ00429
      Location:37 → 458
      PTZ00429; beta-adaptin; Provisional
      sd00044
      Location:46 → 74
      HEAT; HEAT repeat [structural motif]

    4. XM_017000091.3 → XP_016855580.1  AP-4 complex subunit beta-1 isoform X7

      UniProtKB/TrEMBL
      B3KSJ4

    5. XM_011540525.4 → XP_011538827.1  AP-4 complex subunit beta-1 isoform X3

      UniProtKB/TrEMBL
      B3KSJ4
      Conserved Domains (2) summary
      pfam09066
      Location:528 → 637
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      cl26317
      Location:9 → 432
      Adaptin_N; Adaptin N terminal region

    6. XM_024452423.2 → XP_024308191.1  AP-4 complex subunit beta-1 isoform X4

      UniProtKB/TrEMBL
      B2RBF6
      Conserved Domains (3) summary
      sd00044
      Location:86 → 113
      HEAT; HEAT repeat [structural motif]
      pfam09066
      Location:517 → 626
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      cl26317
      Location:9 → 400
      Adaptin_N; Adaptin N terminal region

    7. XM_047438847.1 → XP_047294803.1  AP-4 complex subunit beta-1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z4X3, Q59EJ4, Q96CL6, Q9Y6B7
      Related
      ENSP00000358584.3, ENST00000369571.3

    8. XM_024452441.2 → XP_024308209.1  AP-4 complex subunit beta-1 isoform X9

      UniProtKB/TrEMBL
      B3KSJ4
      Conserved Domains (2) summary
      pfam09066
      Location:349 → 458
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      cl26317
      Location:42 → 232
      Adaptin_N; Adaptin N terminal region

    9. XM_047439008.1 → XP_047294964.1  AP-4 complex subunit beta-1 isoform X8

    10. XM_047439078.1 → XP_047295034.1  AP-4 complex subunit beta-1 isoform X11

    11. XM_047439052.1 → XP_047295008.1  AP-4 complex subunit beta-1 isoform X10

      Related
      ENSP00000518951.1, ENST00000713649.1

    12. XM_017000093.3 → XP_016855582.1  AP-4 complex subunit beta-1 isoform X12

      UniProtKB/TrEMBL
      A0AAQ5BGI8, A0AAQ5BGL5
      Related
      ENSP00000518949.1, ENST00000713647.1
      Conserved Domains (3) summary
      pfam01602
      Location:30 → 401
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:98 → 265
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:86 → 113
      HEAT; HEAT repeat [structural motif]

    RNA

    1. XR_007066904.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      113905856..113916690 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333913.1 → XP_054189888.1  AP-4 complex subunit beta-1 isoform X5

      UniProtKB/TrEMBL
      B1ALD0, B1ALD3

    2. XM_054333914.1 → XP_054189889.1  AP-4 complex subunit beta-1 isoform X6

    3. XM_054333910.1 → XP_054189885.1  AP-4 complex subunit beta-1 isoform X2

      UniProtKB/TrEMBL
      B1ALD1

    4. XM_054333915.1 → XP_054189890.1  AP-4 complex subunit beta-1 isoform X7

    5. XM_054333911.1 → XP_054189886.1  AP-4 complex subunit beta-1 isoform X3

    6. XM_054333912.1 → XP_054189887.1  AP-4 complex subunit beta-1 isoform X4

    7. XM_054333909.1 → XP_054189884.1  AP-4 complex subunit beta-1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z4X3, Q59EJ4, Q96CL6, Q9Y6B7

    8. XM_054333917.1 → XP_054189892.1  AP-4 complex subunit beta-1 isoform X9

    9. XM_054333916.1 → XP_054189891.1  AP-4 complex subunit beta-1 isoform X8

    10. XM_054333919.1 → XP_054189894.1  AP-4 complex subunit beta-1 isoform X11

    11. XM_054333918.1 → XP_054189893.1  AP-4 complex subunit beta-1 isoform X10

    12. XM_054333920.1 → XP_054189895.1  AP-4 complex subunit beta-1 isoform X12

      UniProtKB/TrEMBL
      A0AAQ5BGI8

    RNA

    1. XR_008485876.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6B7.2 GenPept UniProtKB/Swiss-Prot:Q9Y6B7

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