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GAP43 growth associated protein 43 [ Homo sapiens (human) ]

Gene ID: 2596, updated on 11-Apr-2024

Summary

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Official Symbol
GAP43provided by HGNC
Official Full Name
growth associated protein 43provided by HGNC
Primary source
HGNC:HGNC:4140
See related
Ensembl:ENSG00000172020 MIM:162060; AllianceGenome:HGNC:4140
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
B-50; PP46; GAP-43
Summary
The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 55.1) and appendix (RPKM 1.7) See more
Orthologs
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Genomic context

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Location:
3q13.31
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (115623510..115721483)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (118343657..118441697)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (115342357..115440330)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:115003756-115004955 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:115036984-115037582 Neighboring gene eukaryotic translation initiation factor 4E family member 2 pseudogene 2 Neighboring gene uncharacterized LOC105374051 Neighboring gene NANOG hESC enhancer GRCh37_chr3:115193927-115194488 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:115237315-115237868 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:115333844-115334395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:115376638-115377510 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:115377511-115378382 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:115417888-115418741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:115431872-115432372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:115432373-115432873 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:115502891-115503391 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:115503423-115504101 Neighboring gene uncharacterized LOC124909412 Neighboring gene uncharacterized LOC124906269 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:115511955-115512480 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:115512481-115513006 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:115513007-115513531 Neighboring gene NANOG hESC enhancer GRCh37_chr3:115513693-115514194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:115514334-115515272 Neighboring gene 3q13.2-q13.31 distal HERV-H recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:115515273-115516210 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:115517565-115518070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20285 Neighboring gene RNA, 7SL, cytoplasmic 815, pseudogene Neighboring gene limbic system associated membrane protein

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. GAP43-dependent mitochondria transfer from astrocytes enhances glioblastoma tumorigenicity. Watson DC, et al. Nat Cancer, 2023 May. PMID 37169842, Free PMC Article
  2. Growth associated protein 43 deficiency promotes podocyte injury by activating the calmodulin/calcineurin pathway under hyperglycemia. Yang Y, et al. Biochem Biophys Res Commun, 2023 May 14. PMID 36963347
  3. Cutaneous expression of growth-associated protein 43 is not a compelling marker for human nerve regeneration in carpal tunnel syndrome. Carroll L, et al. PLoS One, 2022. PMID 36383568, Free PMC Article
  4. Serum Level of Growth-Associated Protein 43 Is Associated with First-Episode Schizophrenia Patients without Antipsychotic Drugs Treatment. Xiao L, et al. Comput Intell Neurosci, 2022. PMID 35615548, Free PMC Article
  5. Prognostic value of cutaneous reinnervation with GAP-43 in oxaliplatin-induced neuropathy. Albayrak M, et al. J Neurol, 2022 Aug. PMID 35258850, Free PMC Article

See all (87) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Associations of Growth-Associated Protein 43 with Cerebral Microbleeds: A Longitudinal Study.
    Title: Associations of Growth-Associated Protein 43 with Cerebral Microbleeds: A Longitudinal Study.
  2. Association of APOE-epsilon4 and GAP-43-related presynaptic loss with beta-amyloid, tau, neurodegeneration, and cognitive decline.
    Title: Association of APOE-ε4 and GAP-43-related presynaptic loss with β-amyloid, tau, neurodegeneration, and cognitive decline.
  3. GAP43-dependent mitochondria transfer from astrocytes enhances glioblastoma tumorigenicity.
    Title: GAP43-dependent mitochondria transfer from astrocytes enhances glioblastoma tumorigenicity.
  4. Growth associated protein 43 deficiency promotes podocyte injury by activating the calmodulin/calcineurin pathway under hyperglycemia.
    Title: Growth associated protein 43 deficiency promotes podocyte injury by activating the calmodulin/calcineurin pathway under hyperglycemia.
  5. Impact of GAP-43, Cx43 and actin expression on the outcome and overall survival in diffuse and anaplastic gliomas.
    Title: Impact of GAP-43, Cx43 and actin expression on the outcome and overall survival in diffuse and anaplastic gliomas.
  6. Association of CSF GAP-43 and APOE epsilon4 with Cognition in Mild Cognitive Impairment and Alzheimer's Disease.
    Title: Association of CSF GAP-43 and APOE ε4 with Cognition in Mild Cognitive Impairment and Alzheimer's Disease.
  7. Cutaneous expression of growth-associated protein 43 is not a compelling marker for human nerve regeneration in carpal tunnel syndrome.
    Title: Cutaneous expression of growth-associated protein 43 is not a compelling marker for human nerve regeneration in carpal tunnel syndrome.
  8. Prognostic value of cutaneous reinnervation with GAP-43 in oxaliplatin-induced neuropathy.
    Title: Prognostic value of cutaneous reinnervation with GAP-43 in oxaliplatin-induced neuropathy.
  9. The advanced development of Cx43 and GAP-43 mediated intercellular networking in IDH1 wildtype diffuse and anaplastic gliomas with lower mitotic rate.
    Title: The advanced development of Cx43 and GAP-43 mediated intercellular networking in IDH1 wildtype diffuse and anaplastic gliomas with lower mitotic rate.
  10. Transcriptome profiling unveils GAP43 regulates ABC transporters and EIF2 signaling in colorectal cancer cells.
    Title: Transcriptome profiling unveils GAP43 regulates ABC transporters and EIF2 signaling in colorectal cancer cells.
Submit: New GeneRIF Correction See all GeneRIFs (41)

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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of growth associated protein 43 (GAP43) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

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 calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables lysophosphatidic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in axon choice point recognition IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in axon regeneration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell fate commitment IEA
Inferred from Electronic Annotation
more info
  
involved_in protein kinase C-activating G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in radial glial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of filopodium assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of growth IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynaptic specialization assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in response to wounding TAS
Traceable Author Statement
more info
 PubMed 
involved_in tissue regeneration IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in filopodium membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in growth cone membrane IEA
Inferred from Electronic Annotation
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
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
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in presynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
neuromodulin
Names
axonal membrane protein GAP-43
calmodulin-binding protein P-57
nerve growth-related peptide GAP43
neural phosphoprotein B-50
neuron growth-associated protein 43
protein F1

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_001130064.2 → NP_001123536.1  neuromodulin isoform 1

    See identical proteins and their annotated locations for NP_001123536.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK289699, BX648458
    Consensus CDS
    CCDS46890.1
    UniProtKB/Swiss-Prot
    P17677
    Related
    ENSP00000377372.3, ENST00000393780.3
    Conserved Domains (3) summary
    smart00015
    Location:66 → 88
    IQ; Calmodulin-binding motif
    pfam06614
    Location:107 → 274
    Neuromodulin; Neuromodulin
    pfam10310
    Location:89 → 203
    DUF2413; Protein of unknown function (DUF2413)

  2. NM_002045.4 → NP_002036.1  neuromodulin isoform 2

    See identical proteins and their annotated locations for NP_002036.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon and has an upstream AUG start codon, as compared to variant 1. The resulting isoform 2 has a shorter and distinct N-terminus, as compared to variant 1.
    Source sequence(s)
    AK123311, AK313658, BX648458, DA701390
    Consensus CDS
    CCDS33830.1
    UniProtKB/Swiss-Prot
    A8K0Y4, P17677
    UniProtKB/TrEMBL
    Q5U058
    Related
    ENSP00000305010.7, ENST00000305124.11
    Conserved Domains (2) summary
    smart00015
    Location:30 → 52
    IQ; Calmodulin-binding motif
    pfam06614
    Location:67 → 238
    Neuromodulin; Neuromodulin

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    115623510..115721483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    118343657..118441697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P17677.1 GenPept UniProtKB/Swiss-Prot:P17677

Gene LinkOut

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