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

Summary

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: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35868574..35879792)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38414328..38425546)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36359476..36370694)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aplp1 interacts with Lag3 to facilitate transmission of pathologic alpha-synuclein.
Title: Aplp1 interacts with Lag3 to facilitate transmission of pathologic α-synuclein.
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.
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.
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.
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.
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.
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.
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.
[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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D1S357E (e-PCR)
- UniSTS:473117

D8S2279 (e-PCR)
- UniSTS:473907

HSC0VF102 (e-PCR)
- UniSTS:53563

D19S237E (e-PCR)
- UniSTS:44617

D10S16 (e-PCR)
- UniSTS:155756

G35510 (e-PCR)
- UniSTS:44150

SHGC-4198 (e-PCR)
- UniSTS:62626

D11S2612 (e-PCR)
- UniSTS:70572

RH66352 (e-PCR)
- UniSTS:6834

D19S237E (e-PCR)
- UniSTS:147416

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)

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
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, ENST00000652533.2

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

35868574..35879792

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B2R5S2
XM_017026738.3 → XP_016882227.1 amyloid beta precursor like protein 1 isoform X2

UniProtKB/TrEMBL

B2R5S2

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

38414328..38425546

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320812.1 → XP_054176787.1 amyloid beta precursor like protein 1 isoform X1
XM_054320813.1 → XP_054176788.1 amyloid beta precursor like protein 1 isoform X2