Afap1 actin filament associated protein 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Afap1provided by RGD
Official Full Name: actin filament associated protein 1provided by RGD
Primary source: RGD:619959
See related: EnsemblRapid:ENSRNOG00000060665 AllianceGenome:RGD:619959
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Afap
Summary: Enables SH2 domain binding activity and SH3 domain binding activity. Involved in cellular response to mechanical stimulus and regulation of signal transduction. Located in actin filament. 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: Biased expression in Heart (RPKM 69.0), Kidney (RPKM 49.5) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 14q21

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	14	NC_086032.1 (78967961..79081032, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	14	NC_051349.1 (74743322..74856300, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	14	NC_005113.4 (79923132..80035096, complement)

Chromosome 14 - NC_086032.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AFAP1 is an essential downstream signaling component of TGF-beta1 for Src activation, CCN2 induction and collagen XIIa in osteoblasts.
Title: AFAP1 Is a Novel Downstream Mediator of TGF-β1 for CCN2 Induction in Osteoblasts.
Results demonstrate that Tks5 plays a central role in the recruitment of AFAP-110, p190RhoGAP, and cortactin to drive podosome formation.
Title: Tks5 recruits AFAP-110, p190RhoGAP, and cortactin for podosome formation.
AFAP-110 phosphorylation and/or dephosphorylation is involved in the regulation of podosome stability and lifespan.
Title: Phosphorylation of AFAP-110 affects podosome lifespan in A7r5 cells.

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables SH2 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation 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_080900.2 → NP_543176.2 actin filament-associated protein 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000014

UniProtKB/Swiss-Prot

Q8VH46

UniProtKB/TrEMBL

A0A0G2JVI5, A6IJY7

Related

ENSRNOP00000069497.2, ENSRNOT00000090597.3

Conserved Domains (3) 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

pfam08317
Location:561 → 649

Spc7; Spc7 kinetochore protein

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086032.1 Reference GRCr8

Range

78967961..79081032 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063272812.1 → XP_063128882.1 actin filament-associated protein 1 isoform X5
XM_008770247.4 → XP_008768469.1 actin filament-associated protein 1 isoform X2

UniProtKB/Swiss-Prot

Q8VH46

UniProtKB/TrEMBL

A0A8I6ALM6

Related

ENSRNOP00000095531.1, ENSRNOT00000117533.2

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:635 → 707

Ax_dynein_light; Axonemal dynein light chain
XM_039091572.2 → XP_038947500.1 actin filament-associated protein 1 isoform X3

UniProtKB/Swiss-Prot

Q8VH46

Conserved Domains (3) 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

pfam08317
Location:650 → 738

Spc7; Spc7 kinetochore protein
XM_063272813.1 → XP_063128883.1 actin filament-associated protein 1 isoform X6
XM_063272815.1 → XP_063128885.1 actin filament-associated protein 1 isoform X8

UniProtKB/TrEMBL

G3V6Z3

Related

ENSRNOP00000069806.2, ENSRNOT00000089006.3
XM_008770245.4 → XP_008768467.1 actin filament-associated protein 1 isoform X7

UniProtKB/Swiss-Prot

Q8VH46

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
XM_039091573.2 → XP_038947501.1 actin filament-associated protein 1 isoform X4

UniProtKB/Swiss-Prot

Q8VH46

Conserved Domains (3) 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

pfam08317
Location:579 → 667

Spc7; Spc7 kinetochore protein
XM_017599057.3 → XP_017454546.1 actin filament-associated protein 1 isoform X1

UniProtKB/Swiss-Prot

Q8VH46