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APLP1 amyloid beta precursor like protein 1 [ Homo sapiens (human) ]

Gene ID: 333, updated on 11-Apr-2024

Summary

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Official Symbol
APLP1provided by HGNC
Official Full Name
amyloid beta precursor like protein 1provided by HGNC
Primary source
HGNC:HGNC:597
See related
Ensembl:ENSG00000105290 MIM:104775; AllianceGenome:HGNC:597
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
APLP
Summary
This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 172.7) and adrenal (RPKM 17.0) See more
Orthologs
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Genomic context

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See APLP1 in Genome Data Viewer
Location:
19q13.12
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35868574..35879792)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38414328..38425546)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36359476..36370694)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36297835-36298335 Neighboring gene proline dehydrogenase 2 Neighboring gene NPHS1 adhesion molecule, nephrin Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36336236-36336488 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36339012-36339187 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36342052-36342692 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36342693-36343334 Neighboring gene kirre like nephrin family adhesion molecule 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36351790-36352542 Neighboring gene uncharacterized LOC107985317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10541 Neighboring gene uncharacterized LOC124904705 Neighboring gene RNA, 7SL, cytoplasmic 402, pseudogene Neighboring gene NFKB inhibitor delta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36389157-36389729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36389730-36390301 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:36390314-36390870 and GRCh37_chr19:36390871-36391426

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. APLP1 is endoproteolytically cleaved by γ-secretase without previous ectodomain shedding. Schauenburg L, et al. Sci Rep, 2018 Jan 30. PMID 29382944, Free PMC Article
  2. Direct evidence of amyloid precursor-like protein 1 trans interactions in cell-cell adhesion platforms investigated via fluorescence fluctuation spectroscopy. Dunsing V, et al. Mol Biol Cell, 2017 Dec 1. PMID 29021345, Free PMC Article
  3. Interaction of the amyloid precursor protein-like protein 1 (APLP1) E2 domain with heparan sulfate involves two distinct binding modes. Dahms SO, et al. Acta Crystallogr D Biol Crystallogr, 2015 Mar. PMID 25760599, Free PMC Article
  4. Turnover of amyloid precursor protein family members determines their nuclear signaling capability. Gersbacher MT, et al. PLoS One, 2013. PMID 23874953, Free PMC Article
  5. The 28-amino acid form of an APLP1-derived Abeta-like peptide is a surrogate marker for Abeta42 production in the central nervous system. Yanagida K, et al. EMBO Mol Med, 2009 Jul. PMID 20049724, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The direct cleavage of APLP1 is a novel feature of the gamma-secretase.
    Title: APLP1 is endoproteolytically cleaved by γ-secretase without previous ectodomain shedding.
  2. Results provide direct evidence that APLP1 functions as a neuronal zinc-dependent adhesion protein and allow a more detailed understanding of the molecular mechanisms driving the formation of APLP1 adhesion platforms.
    Title: Direct evidence of amyloid precursor-like protein 1 trans interactions in cell-cell adhesion platforms investigated via fluorescence fluctuation spectroscopy.
  3. The results show that in cognitively normal young adults carrying APlp1 mutations showed different spontaneous brain activity patterns without cerebral structural differences.
    Title: Altered spontaneous brain activity pattern in cognitively normal young adults carrying mutations of APP, presenilin-1/2 and APOE ε4.
  4. These data reveal a conserved mechanism for the binding of APP-family proteins to HS and imply a specific regulatory role of HS modifications in the biology of APP and APP-like proteins.
    Title: Interaction of the amyloid precursor protein-like protein 1 (APLP1) E2 domain with heparan sulfate involves two distinct binding modes.
  5. APLP1 and APLP2, behave similarly to APP in that they both associate with assembled NMDA receptors in the endoplasmic reticulum
    Title: APLP1 and APLP2, members of the APP family of proteins, behave similarly to APP in that they associate with NMDA receptors and enhance NMDA receptor surface expression.
  6. CSF levels of 3 endogenous peptides derived from APLP1 (APL1beta25, APL1beta27 and APL1beta28) were decreased in Down syndrome.
    Title: Altered cerebrospinal fluid levels of amyloid β and amyloid precursor-like protein 1 peptides in Down's syndrome.
  7. APLP1 has a regulatory role in the nuclear translocation of APP family intracellular domains due to the sequestration of Fe65.
    Title: Turnover of amyloid precursor protein family members determines their nuclear signaling capability.
  8. [review] APP and its mammalian homologs, amyloid precursor-like proteins APLP1 and APLP2, participate under physiological conditions via trans-cellular dimerization in synaptogenesis.
    Title: Structural aspects and physiological consequences of APP/APLP trans-dimerization.
  9. APLP1 binds the II-III loop of the Ca(v)2.3 calcium channel and that this binding promotes internalization of the channel.
    Title: APLP1 and Rab5A interact with the II-III loop of the voltage-gated Ca-channel Ca(v)2.3 and modulate its internalization differently.
  10. Both APLP1 and APLP2, form transcriptionally active triple protein complexes with Mint3 and transcriptional co-activators Taz andYap.
    Title: Signaling via amyloid precursor-like proteins APLP1 and APLP2.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 alpha-2A adrenergic receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-2A adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables alpha-2B adrenergic receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-2B adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables alpha-2C adrenergic receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-2C adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables heparin binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transition metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in animal organ morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to norepinephrine stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cytosolic mRNA polyadenylation IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytosis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within extracellular matrix organization ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within forebrain development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of translation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in basement membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
amyloid beta precursor like protein 1
Names
amyloid beta (A4) precursor-like protein 1
amyloid precursor-like protein 1
amyloid-like protein 1

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_001024807.3 → NP_001019978.1  amyloid beta precursor like protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001019978.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC013850, BC032983, HY304113
    Consensus CDS
    CCDS32997.1
    UniProtKB/TrEMBL
    B2R5S2
    Related
    ENSP00000221891.4, ENST00000221891.9
    Conserved Domains (5) summary
    smart00006
    Location:46 → 211
    A4_EXTRA; amyloid A4
    pfam02177
    Location:55 → 154
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:597 → 648
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12924
    Location:156 → 211
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam12925
    Location:285 → 467
    APP_E2; E2 domain of amyloid precursor protein

  2. NM_005166.5 → NP_005157.1  amyloid beta precursor like protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_005157.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    BC012889, HY304113
    Consensus CDS
    CCDS92600.1
    UniProtKB/Swiss-Prot
    O00113, P51693, Q96A92
    UniProtKB/TrEMBL
    B2R5S2
    Related
    ENSP00000498366.1, ENST00000652533.1
    Conserved Domains (5) summary
    smart00006
    Location:46 → 211
    A4_EXTRA; amyloid A4
    pfam02177
    Location:55 → 154
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:596 → 647
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12924
    Location:156 → 211
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam12925
    Location:285 → 467
    APP_E2; E2 domain of amyloid precursor protein

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    35868574..35879792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026737.3 → XP_016882226.1  amyloid beta precursor like protein 1 isoform X1

    UniProtKB/TrEMBL
    B2R5S2

  2. XM_017026738.3 → XP_016882227.1  amyloid beta precursor like protein 1 isoform X2

    UniProtKB/TrEMBL
    B2R5S2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    38414328..38425546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320812.1 → XP_054176787.1  amyloid beta precursor like protein 1 isoform X1

  2. XM_054320813.1 → XP_054176788.1  amyloid beta precursor like protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51693.3 GenPept UniProtKB/Swiss-Prot:P51693

Gene LinkOut

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