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

Gene ID: 333, updated on 23-Dec-2018

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
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

Genomic context

See APLP1 in Genome Data Viewer
Location:
19q13.12
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (35868445..35879797)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36358806..36370699)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene proline dehydrogenase 2 Neighboring gene NPHS1, nephrin Neighboring gene kirre like nephrin family adhesion molecule 2 Neighboring gene uncharacterized LOC107985317 Neighboring gene RNA, 7SL, cytoplasmic 402, pseudogene Neighboring gene NFKB inhibitor delta

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-2A adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
alpha-2B adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
alpha-2C adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transition metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular response to norepinephrine stimulus IDA
Inferred from Direct Assay
more info
PubMed 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
basement membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001024807.2NP_001019978.1  amyloid-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, DA510296, HY304113
    Consensus CDS
    CCDS32997.1
    UniProtKB/Swiss-Prot
    P51693
    Related
    ENSP00000221891.3, ENST00000221891.8
    Conserved Domains (5) summary
    smart00006
    Location:46211
    A4_EXTRA; amyloid A4
    pfam02177
    Location:55154
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:597648
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12924
    Location:156211
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam12925
    Location:285467
    APP_E2; E2 domain of amyloid precursor protein
  2. NM_005166.4NP_005157.1  amyloid-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, DA510296, HY304113
    UniProtKB/Swiss-Prot
    P51693
    Related
    ENSP00000465694.1, ENST00000586861.5
    Conserved Domains (5) summary
    smart00006
    Location:46211
    A4_EXTRA; amyloid A4
    pfam02177
    Location:55154
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:596647
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12924
    Location:156211
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam12925
    Location:285467
    APP_E2; E2 domain of amyloid precursor protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    35868445..35879797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026737.2XP_016882226.1  amyloid-like protein 1 isoform X1

  2. XM_017026738.2XP_016882227.1  amyloid-like protein 1 isoform X2

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