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AFAP1 actin filament associated protein 1 [ Homo sapiens (human) ]

Gene ID: 60312, updated on 5-Mar-2024

Summary

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Official Symbol
AFAP1provided by HGNC
Official Full Name
actin filament associated protein 1provided by HGNC
Primary source
HGNC:HGNC:24017
See related
Ensembl:ENSG00000196526 MIM:608252; AllianceGenome:HGNC:24017
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
AFAP; AFAP110; AFAP-110
Summary
The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Expression
Ubiquitous expression in endometrium (RPKM 8.4), placenta (RPKM 6.8) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
4p16.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (7758713..7939861, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (7730695..7918406, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (7760440..7941588, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sortilin related VPS10 domain containing receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7487849-7488719 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7499341-7499508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7502509-7503107 Neighboring gene uncharacterized LOC124900655 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7511069-7511569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7513069-7513896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7516537-7517180 Neighboring gene uncharacterized LOC124900654 Neighboring gene microRNA 4274 Neighboring gene Sharpr-MPRA regulatory region 5388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7541780-7542286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7572135-7572688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7572689-7573243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7594819-7595716 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7618209-7618398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7652905-7653495 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7654677-7655267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7657631-7658221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7658222-7658811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7675244-7675744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7678472-7679464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7698611-7699152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7699153-7699695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7703459-7704127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7706967-7707838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7710414-7710931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7710932-7711448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7712713-7713213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7715853-7716582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7735941-7736733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7747402-7747902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7754061-7754562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7754563-7755062 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7755607-7755833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7758626-7759126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7764789-7765495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7764080-7764788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7769393-7770308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21277 Neighboring gene heart enhancer 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21279 Neighboring gene AFAP1 antisense RNA 1 Neighboring gene uncharacterized LOC124900656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7806013-7806582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7806583-7807151 Neighboring gene Sharpr-MPRA regulatory region 8435 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:7809617-7810117 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:7827707-7828208 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:7828209-7828708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:7830049-7830549 Neighboring gene Sharpr-MPRA regulatory region 14367 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7845474-7845654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7851945-7852446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7854640-7855140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7884073-7884574 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7895735-7895928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7916363-7917329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7919591-7920401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7920402-7921211 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:7940549-7941053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7951399-7951898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7957833-7958334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7958335-7958834 Neighboring gene Sharpr-MPRA regulatory region 6491 Neighboring gene uncharacterized LOC124900657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7973234-7973789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7973790-7974346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15255 Neighboring gene uncharacterized LOC389199 Neighboring gene Sharpr-MPRA regulatory region 1176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7986340-7987294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7987295-7988247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7994807-7995347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8000331-8000831 Neighboring gene actin binding LIM protein family member 2 Neighboring gene microRNA 95

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. [Knockdown of long non-coding RNA actin filament-associated protein 1 antisense RNA1 (AFAP1-AS1) inhibits epithelial-mesenchymal transition, invasion and migration of TPC-1 papillary thyroid cancer cells]. Fan H, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2021 Jan. PMID 33441229
  2. Long non-coding RNA AFAP1-AS1 promotes proliferation and migration of gastric cancer by downregulating KLF2. Yuan XH, et al. Eur Rev Med Pharmacol Sci, 2020 Jan. PMID 32016968
  3. [Expression and functions of long non-coding RNA actin filament-associated protein 1-antisense RNA1 in oral squamous cell carcinoma]. Geng YD, et al. Hua Xi Kou Qiang Yi Xue Za Zhi, 2019 Dec 1. PMID 31875436, Free PMC Article
  4. LncRNA AFAP1-AS1 is a prognostic biomarker and serves as oncogenic role in retinoblastoma. Hao F, et al. Biosci Rep, 2018 May 15. PMID 29654169, Free PMC Article
  5. The prognostic value of high LncRNA AFAP1-AS1 expression in various cancers: A systematic review and meta-analysis containing 21 studies. Zhou Y, et al. Clin Chim Acta, 2018 Jun. PMID 29544748

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Long non-coding RNA AFAP1-AS1 promotes proliferation and migration of gastric cancer by downregulating KLF2.
    Title: Long non-coding RNA AFAP1-AS1 promotes proliferation and migration of gastric cancer by downregulating KLF2.
  2. [Knockdown of long non-coding RNA actin filament-associated protein 1 antisense RNA1 (AFAP1-AS1) inhibits epithelial-mesenchymal transition, invasion and migration of TPC-1 papillary thyroid cancer cells].
    Title: [Knockdown of long non-coding RNA actin filament-associated protein 1 antisense RNA1 (AFAP1-AS1) inhibits epithelial-mesenchymal transition, invasion and migration of TPC-1 papillary thyroid cancer cells].
  3. The expression of AFAP1-AS1 was high in the oral squamous cell carcinoma tissues and SCC25 cells and is associated with the development and prognosis of oral squamous cell carcinoma
    Title: [Expression and functions of long non-coding RNA actin filament-associated protein 1-antisense RNA1 in oral squamous cell carcinoma].
  4. e experiment in vitro suggested down-regulation of AFAP1-AS1 inhibited retinoblastoma cell proliferation, migration and invasion, and blocked cell cycle. In conclusion, AFAP1-AS1 functions as an oncogenic lncRNA in retinoblastoma.
    Title: LncRNA AFAP1-AS1 is a prognostic biomarker and serves as oncogenic role in retinoblastoma.
  5. Authors determined that AFAP1-AS1 functions as a competing endogenous RNA in NPC to regulate the Rho/Rac pathway through miR-423-5p.
    Title: Long noncoding RNA AFAP1-AS1 acts as a competing endogenous RNA of miR-423-5p to facilitate nasopharyngeal carcinoma metastasis through regulating the Rho/Rac pathway.
  6. The observed up-regulation of AFAP1-AS1 in tumor samples compared with ANCTs implies its involvement in breast cancer pathogenesis and potentiates it as a biomarker or therapeutic target.
    Title: Expression analysis of AFAP1-AS1 and AFAP1 in breast cancer.
  7. The high LncRNA AFAP1-AS1 expression was significantly related to advanced clinical stage, larger tumor size, earlier tumor metastasis, earlier lymph nodal involvement and vascular invasion. High LncRNA AFAP1-AS1 expression was an unfavorable prognostic factor in various cancers.
    Title: The prognostic value of high LncRNA AFAP1-AS1 expression in various cancers: A systematic review and meta-analysis containing 21 studies.
  8. AFAP-1 is a key mediator in the inflammatory signaling-induced, translocation-independent attenuation of P-glycoprotein efflux in brain capillary endothelial cells.
    Title: Actin filament-associated protein 1 (AFAP-1) is a key mediator in inflammatory signaling-induced rapid attenuation of intrinsic P-gp function in human brain capillary endothelial cells.
  9. The genotype frequencies of six SNPs in AFAP1, GMDS and PTGFR genes were conformed to Hardy-Weinberg equilibrium (HWE).
    Title: Correlations of AFAP1, GMDS and PTGFR gene polymorphisms with intra-ocular pressure response to latanoprost in patients with primary open-angle glaucoma.
  10. Data indicate three loci associated with primary open-angle glaucoma (POAG) were located upstream of ATP binding cassette transporter 1 (ABCA1), within actin filament associated protein 1 (AFAP1) and within GDP-mannose 46-dehydratase (GMDS).
    Title: Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ56849

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH2 domain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables SH3 domain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in focal adhesion HDA PubMed 
located_in focal adhesion IDA
Inferred from Direct Assay
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
actin filament-associated protein, 110 kDa

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_001134647.2 → NP_001128119.1  actin filament-associated protein 1 isoform A

    See identical proteins and their annotated locations for NP_001128119.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) differs in the 5' UTR and includes an alternate in-frame exon in the coding region compared to variant 4. The variant encodes a longer protein, isoform A, compared to isoform B.
    Source sequence(s)
    AC004169, AC112254, AK127962, AK290807, AK297631, BI561136, CA448961, DB450895
    Consensus CDS
    CCDS47010.1
    UniProtKB/Swiss-Prot
    Q8N556
    UniProtKB/TrEMBL
    Q6ZRV0
    Related
    ENSP00000410689.1, ENST00000420658.6
    Conserved Domains (3) summary
    cd13306
    Location:143 → 249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347 → 447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
    pfam00169
    Location:155 → 247
    PH; PH domain

  2. NM_001371090.1 → NP_001358019.1  actin filament-associated protein 1 isoform B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 4. Variants 2, 3 and 4 encodes the same protein.
    Source sequence(s)
    AC004169, AC112254, AC141931, AC144451
    Consensus CDS
    CCDS3397.1
    UniProtKB/Swiss-Prot
    A8K442, B4DMU2, E9PDT7, Q59EY5, Q8N556, Q9HBY1
    Related
    ENSP00000353402.4, ENST00000360265.9
    Conserved Domains (3) summary
    PRK02224
    Location:561 → 646
    PRK02224; DNA double-strand break repair Rad50 ATPase
    cd13306
    Location:143 → 249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347 → 447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

  3. NM_001371091.1 → NP_001358020.1  actin filament-associated protein 1 isoform B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript. Variants 2, 3 and 4 encodes the same protein.
    Source sequence(s)
    AC004169, AC097381, AC112254, AC141931, AC144451
    Consensus CDS
    CCDS3397.1
    UniProtKB/Swiss-Prot
    A8K442, B4DMU2, E9PDT7, Q59EY5, Q8N556, Q9HBY1
    Conserved Domains (3) summary
    PRK02224
    Location:561 → 646
    PRK02224; DNA double-strand break repair Rad50 ATPase
    cd13306
    Location:143 → 249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347 → 447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

  4. NM_198595.3 → NP_940997.1  actin filament-associated protein 1 isoform B

    See identical proteins and their annotated locations for NP_940997.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 4. Variants 2, 3 and 4 encodes the same protein.
    Source sequence(s)
    AC004169, AF188700, BC032777, CA448961, DA605903, DB450895
    Consensus CDS
    CCDS3397.1
    UniProtKB/Swiss-Prot
    A8K442, B4DMU2, E9PDT7, Q59EY5, Q8N556, Q9HBY1
    Related
    ENSP00000351245.2, ENST00000358461.6
    Conserved Domains (3) summary
    PRK02224
    Location:561 → 646
    PRK02224; DNA double-strand break repair Rad50 ATPase
    cd13306
    Location:143 → 249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347 → 447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    7758713..7939861 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713909.4 → XP_006713972.1  actin filament-associated protein 1 isoform X3

    Conserved Domains (3) summary
    cd13306
    Location:164 → 270
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:368 → 468
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
    pfam00169
    Location:176 → 268
    PH; PH domain

  2. XM_047416061.1 → XP_047272017.1  actin filament-associated protein 1 isoform X4

  3. XM_011513544.4 → XP_011511846.1  actin filament-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011511846.1

    UniProtKB/Swiss-Prot
    Q8N556
    Related
    ENSP00000371983.3, ENST00000382543.4
    Conserved Domains (3) summary
    cd13306
    Location:143 → 249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347 → 447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
    pfam00169
    Location:155 → 247
    PH; PH domain

  4. XM_017008535.2 → XP_016864024.1  actin filament-associated protein 1 isoform X2

  5. XM_017008536.1 → XP_016864025.1  actin filament-associated protein 1 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    7730695..7918406 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350691.1 → XP_054206666.1  actin filament-associated protein 1 isoform X3

  2. XM_054350692.1 → XP_054206667.1  actin filament-associated protein 1 isoform X4

  3. XM_054350689.1 → XP_054206664.1  actin filament-associated protein 1 isoform X1

  4. XM_054350690.1 → XP_054206665.1  actin filament-associated protein 1 isoform X2

  5. XM_054350693.1 → XP_054206668.1  actin filament-associated protein 1 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_021638.4: Suppressed sequence

    Description
    NM_021638.4: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N556.2 GenPept UniProtKB/Swiss-Prot:Q8N556

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