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

Gene ID: 2191, updated on 2-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (162170684..162243445, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (162627338..162700099, complement)
RS_2024_09 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 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. Expression of fibroblast activation protein-α in human deep vein thrombosis. Oguri N, et al. Thromb Res, 2024 Sep. PMID 38955058
  2. Overexpression of fibroblast activation protein and its clinical implications in patients with osteosarcoma. Yuan D, et al. J Surg Oncol, 2013 Sep. PMID 23813624
  3. Clinical implications of fibroblast activation protein-α in non-small cell lung cancer after curative resection: a new predictor for prognosis. Liao Y, et al. J Cancer Res Clin Oncol, 2013 Sep. PMID 23835897
  4. Circulating concentrations of fibroblast activation protein α in apparently healthy individuals and patients with acute coronary syndrome as assessed by sandwich ELISA. Tillmanns J, et al. Int J Cardiol, 2013 Oct 9. PMID 23932048
  5. Over-expression of fibroblast activation protein alpha increases tumor growth in xenografts of ovarian cancer cells. Yang L, et al. Acta Biochim Biophys Sin (Shanghai), 2013 Nov. PMID 24028972

See all (182) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Altered Plasma Levels and Tissue Expression of Fibroblast Activation Protein Alpha in Giant Cell Arteritis.
    Title: Altered Plasma Levels and Tissue Expression of Fibroblast Activation Protein Alpha in Giant Cell Arteritis.
  2. Expression of fibroblast activation protein-alpha in human deep vein thrombosis.
    Title: Expression of fibroblast activation protein-α in human deep vein thrombosis.
  3. Expression of FAP in Oral Leukoplakia and Oral Squamous Cell Carcinoma.
    Title: Expression of FAP in Oral Leukoplakia and Oral Squamous Cell Carcinoma.
  4. 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.
  5. FAP expression in adipose tissue macrophages promotes obesity and metabolic inflammation.
    Title: FAP expression in adipose tissue macrophages promotes obesity and metabolic inflammation.
  6. Fibroblast Activation Protein-alpha (FAP) Identifies Stromal Invasion in Colorectal Neoplasia.
    Title: Fibroblast Activation Protein-α (FAP) Identifies Stromal Invasion in Colorectal Neoplasia.
  7. 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?
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (157)

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 Variation Viewer (GRCh37.p13)

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_2024_08

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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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