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

Summary

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: mouse all
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Genomic context

Location:: 3q13.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (115623510..115721483)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (118343657..118441697)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (115342357..115440330)

Chromosome 3 - NC_000003.12 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 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?

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.
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.
GAP43-dependent mitochondria transfer from astrocytes enhances glioblastoma tumorigenicity.
Title: GAP43-dependent mitochondria transfer from astrocytes enhances glioblastoma tumorigenicity.
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.
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.
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.
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.
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.
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.
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)

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

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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

GAP43-3UUTF (e-PCR)
- UniSTS:43266

GDB:181207 (e-PCR)
- UniSTS:155175

G10622 (e-PCR)
- UniSTS:78906

SHGC-142675 (e-PCR)
- UniSTS:171585

GAP43 (e-PCR)
- UniSTS:479844

RH122200 (e-PCR)
- UniSTS:134760

GAP43_1989 (e-PCR)
- UniSTS:280689

WI-18969 (e-PCR)
- UniSTS:26274

WI-7159 (e-PCR)
- UniSTS:68017

RH16452 (e-PCR)
- UniSTS:53749

GDB:305514 (e-PCR)
- UniSTS:156413

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 phospholipase 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)

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)
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