Afap1 actin filament associated protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Afap1provided by MGI
Official Full Name: actin filament associated protein 1provided by MGI
Primary source: MGI:MGI:1917542
See related: Ensembl:ENSMUSG00000029094 AllianceGenome:MGI:1917542
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Afap; mKIAA3018; 2600003E23Rik; 9630044L16Rik
Summary: Predicted to enable SH2 domain binding activity and SH3 domain binding activity. Predicted to be involved in regulation of signal transduction. Predicted to be located in actin cytoskeleton and focal adhesion. Predicted to be active in actin filament and cytosol. Is expressed in cerebral cortex subventricular zone; cerebral cortex ventricular layer; and dentate gyrus subgranular zone. Human ortholog(s) of this gene implicated in open-angle glaucoma. Orthologous to human AFAP1 (actin filament associated protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in subcutaneous fat pad adult (RPKM 12.9), whole brain E14.5 (RPKM 12.4) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 19.02 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (36050713..36161267)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (35893319..36003923)

Chromosome 5 - NC_000071.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These data define, for the first time, the requirement of AFAP1 for the spatial and temporal regulation of cSrc activity in the normal breast, specifically for milk production.
Title: Actin filament-associated protein 1 is required for cSrc activity and secretory activation in the lactating mammary gland.
AFAP120 may coordinate Src signaling with the dynamic changes in the actin cytoskeleton that drive growth cone motility and axon elongation.
Title: The actin cross-linking protein AFAP120 regulates axon elongation in a tyrosine phosphorylation-dependent manner.
Actin filament associated protein-110 (AFAP) colocalizes with cSrc to promote cSrc activation and cell migration.
Title: PI3K activation is required for PMA-directed activation of cSrc by AFAP-110.
These results indicate that AFAP120 plays a role in organizing dynamic actin structures during neuronal differentiation and suggest that AFAP120 may help regulate the transition from motile precursor to morphologically differentiated neurons.
Title: AFAP120 regulates actin organization during neuronal differentiation.
Data suggest that one major function of AFAP-110 is to relay signals from protein kinase C alpha that direct the activation of c-Src and the formation of podosomes.
Title: Protein kinase Calpha activates c-Src and induces podosome formation via AFAP-110.
In E16 mouse embryos, AFAP expression levels concentrated in the olfactory bulb, cortex, forebrain, cerebellum, and various peripheral sensory structures.In P3 mouse pups, overall expression was reduced. (AFAP-110)
Title: Protein expression levels of the Src activating protein AFAP are developmentally regulated in brain.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127087 (e-PCR)
- UniSTS:167431

RH140863 (e-PCR)
- UniSTS:222891

AI848729 (e-PCR)
- UniSTS:179158

D5Mit149 (e-PCR), detects polymorphism
- UniSTS:130275

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH2 domain binding	ISO Inferred from Sequence Orthology more info
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
enables actin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in regulation of signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of signal transduction	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: actin filament-associated protein 1

Names: 110 kDa actin filament-associated protein; AFAP-110

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_001403419.1 → NP_001390348.1 actin filament-associated protein 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC127275, AC141898
NM_001403420.1 → NP_001390349.1 actin filament-associated protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC127275, AC141898
NM_001403421.1 → NP_001390350.1 actin filament-associated protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC127275, AC141898
NM_027373.3 → NP_081649.1 actin filament-associated protein 1 isoform 2

See identical proteins and their annotated locations for NP_081649.1

Status: VALIDATED

Source sequence(s)

AC127275, AC141898

Consensus CDS

CCDS19236.1

UniProtKB/Swiss-Prot

Q3UGX1, Q6ZPE4, Q80YS6

UniProtKB/TrEMBL

E9Q8X9

Related

ENSMUSP00000067779.5, ENSMUST00000064571.11

Conserved Domains (4) summary

cd13306
Location:142 → 248

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:348 → 448

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

pfam00169
Location:154 → 246

PH; PH domain

pfam10211
Location:546 → 618

Ax_dynein_light; Axonemal dynein light chain