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    FAP fibroblast activation protein alpha [ Homo sapiens (human) ]

    Gene ID: 2191, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FAPprovided by HGNC
    Official Full Name
    fibroblast activation protein alphaprovided by HGNC
    Primary source
    HGNC:HGNC:3590
    See related
    Ensembl:ENSG00000078098 MIM:600403; AllianceGenome:HGNC:3590
    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
    FAPA; SIMP; DPPIV; FAPalpha
    Summary
    The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in endometrium (RPKM 7.5), gall bladder (RPKM 5.1) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAP in Genome Data Viewer
    Location:
    2q24.2
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (162170684..162243445, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (162627338..162700099, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (163027194..163099955, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:162949234-162950433 Neighboring gene EIF3E pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 10348 Neighboring gene uncharacterized LOC101929532 Neighboring gene GCG promoter region Neighboring gene glucagon Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54994 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55025 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55061 Neighboring gene uncharacterized LOC105373724 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55125 Neighboring gene interferon induced with helicase C domain 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12062 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:163175227-163176426

    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. Comprehensive analysis of the oncogenic and immunological role of FAP and identification of the ceRNA network in human cancers. Mai W, et al. Aging (Albany NY), 2023 May 9. PMID 37166418, Free PMC Article
    2. Joint analysis identified FAP as a prognostic and diagnostic biomarker correlated immune infiltration in gastric cancer. Zhang K, et al. Pathol Res Pract, 2023 May. PMID 37068372
    3. Comprehensive Analysis of Fibroblast Activation Protein Expression in Interstitial Lung Diseases. Yang P, et al. Am J Respir Crit Care Med, 2023 Jan 15. PMID 35984444, Free PMC Article
    4. Serum Exosomal lncRNA AC007099.1 Regulates the Expression of Neuropeptide-Related FAP, as a Potential Biomarker for Hepatocarcinogenesis. Li L, et al. Dis Markers, 2022. PMID 35186170, Free PMC Article
    5. Fibroblast activation protein-alpha knockdown suppresses prostate cancer cell invasion and proliferation. An J, et al. Histol Histopathol, 2022 Jun. PMID 35129203

    See all (171) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation.
      Title: FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation.
    2. FAP expression in adipose tissue macrophages promotes obesity and metabolic inflammation.
      Title: FAP expression in adipose tissue macrophages promotes obesity and metabolic inflammation.
    3. Fibroblast Activation Protein-alpha (FAP) Identifies Stromal Invasion in Colorectal Neoplasia.
      Title: Fibroblast Activation Protein-α (FAP) Identifies Stromal Invasion in Colorectal Neoplasia.
    4. Fibroblast activation protein (FAP)-targeted radionuclide therapy: which ligand is the best?
      Title: Fibroblast activation protein (FAP)-targeted radionuclide therapy: which ligand is the best?
    5. Identifying the oncogenic roles of FAP in human cancers based on systematic analysis.
      Title: Identifying the oncogenic roles of FAP in human cancers based on systematic analysis.
    6. FAP expression in alpha cells of Langherhans insulae-implications for FAPI radiopharmaceuticals' use.
      Title: FAP expression in alpha cells of Langherhans insulae-implications for FAPI radiopharmaceuticals' use.
    7. Stromal FAP Expression is Associated with MRI Visibility and Patient Survival in Prostate Cancer.
      Title: Stromal FAP Expression is Associated with MRI Visibility and Patient Survival in Prostate Cancer.
    8. TGF-beta1 dominates stromal fibroblast-mediated EMT via the FAP/VCAN axis in bladder cancer cells.
      Title: TGF-β1 dominates stromal fibroblast-mediated EMT via the FAP/VCAN axis in bladder cancer cells.
    9. Comprehensive analysis of the oncogenic and immunological role of FAP and identification of the ceRNA network in human cancers.
      Title: Comprehensive analysis of the oncogenic and immunological role of FAP and identification of the ceRNA network in human cancers.
    10. Joint analysis identified FAP as a prognostic and diagnostic biomarker correlated immune infiltration in gastric cancer.
      Title: Joint analysis identified FAP as a prognostic and diagnostic biomarker correlated immune infiltration in gastric cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (154)

    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)

    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

    • DKFZp686G13158

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dipeptidyl-peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dipeptidyl-peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dipeptidyl-peptidase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serine-type peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables serine-type peptidase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in melanocyte apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in melanocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cell proliferation involved in contact inhibition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of extracellular matrix disassembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of extracellular matrix organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of execution phase of apoptosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis involved in protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of collagen catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of fibrinolysis IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in basal part of cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in focal adhesion HDA PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellipodium membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of peptidase complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in ruffle membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    prolyl endopeptidase FAP
    Names
    170 kDa melanoma membrane-bound gelatinase
    dipeptidyl peptidase FAP
    gelatine degradation protease FAP
    integral membrane serine protease
    post-proline cleaving enzyme
    seprase
    surface-expressed protease
    NP_001278736.1
    NP_004451.2
    XP_011509098.1
    XP_011509099.1
    XP_016859074.1
    XP_054197004.1
    XP_054197005.1
    XP_054197006.1

    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.

    Genomic

    1. NG_027991.1 RefSeqGene

      Range
      5091..77852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291807.3 → NP_001278736.1  prolyl endopeptidase FAP isoform 2

      See identical proteins and their annotated locations for NP_001278736.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK297118, AL832166, U09278
      Consensus CDS
      CCDS77480.1
      UniProtKB/TrEMBL
      A0A140GPP7, B4DLR2
      Related
      ENSP00000411391.1, ENST00000443424.5
      Conserved Domains (2) summary
      pfam00326
      Location:528 → 731
      Peptidase_S9; Prolyl oligopeptidase family
      pfam00930
      Location:89 → 447
      DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region

    2. NM_004460.5 → NP_004451.2  prolyl endopeptidase FAP isoform 1

      See identical proteins and their annotated locations for NP_004451.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL832166, BC026250, U09278
      Consensus CDS
      CCDS33311.1
      UniProtKB/Swiss-Prot
      O00199, Q12884, Q53TP5, Q86Z29, Q99998, Q9UID4
      UniProtKB/TrEMBL
      A0A140GPP7
      Related
      ENSP00000188790.4, ENST00000188790.9
      Conserved Domains (2) summary
      pfam00326
      Location:553 → 756
      Peptidase_S9; Prolyl oligopeptidase family
      pfam00930
      Location:106 → 472
      DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      162170684..162243445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510796.4 → XP_011509098.1  prolyl endopeptidase FAP isoform X1

      UniProtKB/TrEMBL
      A0A172Q3A0
      Conserved Domains (2) summary
      COG1506
      Location:164 → 747
      DAP2; Dipeptidyl aminopeptidase/acylaminoacyl peptidase [Amino acid transport and metabolism]
      cl29726
      Location:65 → 261
      Pectate_lyase22; Oligogalacturonate lyase

    2. XM_011510797.4 → XP_011509099.1  prolyl endopeptidase FAP isoform X2

      Conserved Domains (1) summary
      pfam00930
      Location:106 → 473
      DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region

    3. XM_017003585.3 → XP_016859074.1  prolyl endopeptidase FAP isoform X3

    RNA

    1. XR_001738668.3 RNA Sequence

    2. XR_922891.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      162627338..162700099 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341029.1 → XP_054197004.1  prolyl endopeptidase FAP isoform X1

    2. XM_054341030.1 → XP_054197005.1  prolyl endopeptidase FAP isoform X2

    3. XM_054341031.1 → XP_054197006.1  prolyl endopeptidase FAP isoform X3

    RNA

    1. XR_008486306.1 RNA Sequence

    2. XR_008486305.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12884.5 GenPept UniProtKB/Swiss-Prot:Q12884

    Gene LinkOut

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