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

Gene ID: 60312, updated on 11-Jun-2021

Summary

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
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

See AFAP1 in Genome Data Viewer
Location:
4p16.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (7758713..7939861, complement)
105.20201022 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 Sharpr-MPRA regulatory region 5388 Neighboring gene uncharacterized LOC107986258 Neighboring gene heart enhancer 19 Neighboring gene AFAP1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 14367 Neighboring gene uncharacterized LOC389199 Neighboring gene Sharpr-MPRA regulatory region 2931 Neighboring gene actin binding LIM protein family member 2 Neighboring gene microRNA 95

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables SH3 domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in regulation of cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of signal transduction 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
PubMed 
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
 

General protein information

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_001134647.2NP_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:143249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
    pfam00169
    Location:155247
    PH; PH domain
  2. NM_001371090.1NP_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
    Related
    ENSP00000353402.4, ENST00000360265.9
    Conserved Domains (3) summary
    PRK02224
    Location:561646
    PRK02224; DNA double-strand break repair Rad50 ATPase
    cd13306
    Location:143249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
  3. NM_001371091.1NP_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
    Conserved Domains (3) summary
    PRK02224
    Location:561646
    PRK02224; DNA double-strand break repair Rad50 ATPase
    cd13306
    Location:143249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
  4. NM_198595.3NP_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
    Q8N556
    Related
    ENSP00000351245.2, ENST00000358461.6
    Conserved Domains (3) summary
    PRK02224
    Location:561646
    PRK02224; DNA double-strand break repair Rad50 ATPase
    cd13306
    Location:143249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006713909.3XP_006713972.1  actin filament-associated protein 1 isoform X3

    Conserved Domains (3) summary
    cd13306
    Location:164270
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:368468
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
    pfam00169
    Location:176268
    PH; PH domain
  2. XM_011513544.3XP_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:143249
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:347447
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
    pfam00169
    Location:155247
    PH; PH domain
  3. XM_017008535.1XP_016864024.1  actin filament-associated protein 1 isoform X2

  4. XM_017008536.1XP_016864025.1  actin filament-associated protein 1 isoform X4

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.
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