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MFAP5 microfibril associated protein 5 [ Homo sapiens (human) ]

Gene ID: 8076, updated on 3-Apr-2024

Summary

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Official Symbol
MFAP5provided by HGNC
Official Full Name
microfibril associated protein 5provided by HGNC
Primary source
HGNC:HGNC:29673
See related
Ensembl:ENSG00000197614 MIM:601103; AllianceGenome:HGNC:29673
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
AAT9; MP25; MAGP2; MAGP-2; MFAP-5
Summary
This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Expression
Biased expression in fat (RPKM 53.2), endometrium (RPKM 51.6) and 11 other tissues See more
Orthologs
mouse all
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Genomic context

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See MFAP5 in Genome Data Viewer
Location:
12p13.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8645943..8662826, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8629231..8655815, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8798539..8815422, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene activation induced cytidine deaminase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8779867-8780858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5936 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8788329-8789138 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:8790755-8791562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8791770-8792686 Neighboring gene NANOG hESC enhancer GRCh37_chr12:8797315-8797837 Neighboring gene HADHA pseudogene 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:8800473-8801672 Neighboring gene Fanconi anemia core complex-associated protein 24-like Neighboring gene ribosomal modification protein rimK like family member B Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:8850416-8851382 Neighboring gene ribosomal protein SA pseudogene 51

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. Targeting MFAP5 in cancer-associated fibroblasts sensitizes pancreatic cancer to PD-L1-based immunochemotherapy via remodeling the matrix. Duan Y, et al. Oncogene, 2023 Jun. PMID 37156839, Free PMC Article
  2. Reduced MFAP5 expression in stroma of gallbladder adenocarcinoma and its potential diagnostic utility. Zhao L, et al. Virchows Arch, 2021 Mar. PMID 32895766
  3. Loss of microfibril-associated protein 5 (MFAP5) expression in colon cancer stroma. Zhao L, et al. Virchows Arch, 2020 Mar. PMID 31422503
  4. Anticancer Immunotherapy by MFAP5 Blockade Inhibits Fibrosis and Enhances Chemosensitivity in Ovarian and Pancreatic Cancer. Yeung TL, et al. Clin Cancer Res, 2019 Nov 1. PMID 31332047, Free PMC Article
  5. MFAP5 suppression inhibits migration/invasion, regulates cell cycle and induces apoptosis via promoting ROS production in cervical cancer. Li Q, et al. Biochem Biophys Res Commun, 2018 Dec 9. PMID 30454902

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Microfibril-Associated Glycoprotein-2 Promoted Fracture Healing via Integrin alphavbeta3/PTK2/AKT Signaling.
    Title: Microfibril-Associated Glycoprotein-2 Promoted Fracture Healing via Integrin αvβ3/PTK2/AKT Signaling.
  2. Targeting MFAP5 in cancer-associated fibroblasts sensitizes pancreatic cancer to PD-L1-based immunochemotherapy via remodeling the matrix.
    Title: Targeting MFAP5 in cancer-associated fibroblasts sensitizes pancreatic cancer to PD-L1-based immunochemotherapy via remodeling the matrix.
  3. MAGP2 induces tumor progression by enhancing uPAR-mediated cell proliferation.
    Title: MAGP2 induces tumor progression by enhancing uPAR-mediated cell proliferation.
  4. Reduced MFAP5 expression in stroma of gallbladder adenocarcinoma and its potential diagnostic utility.
    Title: Reduced MFAP5 expression in stroma of gallbladder adenocarcinoma and its potential diagnostic utility.
  5. CAFs-derived MFAP5 promotes bladder cancer malignant behavior through NOTCH2/HEY1 signaling.
    Title: CAFs-derived MFAP5 promotes bladder cancer malignant behavior through NOTCH2/HEY1 signaling.
  6. Stromal fibroblast-derived MFAP5 promotes the invasion and migration of breast cancer cells via Notch1/slug signaling.
    Title: Stromal fibroblast-derived MFAP5 promotes the invasion and migration of breast cancer cells via Notch1/slug signaling.
  7. Anticancer Immunotherapy by MFAP5 Blockade Inhibits Fibrosis and Enhances Chemosensitivity in Ovarian and Pancreatic Cancer.
    Title: Anticancer Immunotherapy by MFAP5 Blockade Inhibits Fibrosis and Enhances Chemosensitivity in Ovarian and Pancreatic Cancer.
  8. this study showed that MFAP5 is a novel myoepithelial cell marker that appears to be upregulated in duct epithelium in duct carcinoma in situ and invasive carcinoma of no special type during tumorogenesis
    Title: Immunohistochemical Expression of Microfibrillar-associated Protein 5 (MFAP5) in Invasive Breast Carcinoma of No Special Type.
  9. Authors showed that MFAP5 promoted ICC cell growth and G1 to S-phase transition. Using RNA-seq expression and ATAC-seq chromatin accessibility profiling of ICC cells with suppressed MFAP5 secretion, we showed that MFAP5 regulated the expression of genes involved in the Notch1 signaling pathway.
    Title: MFAP5 facilitates the aggressiveness of intrahepatic Cholangiocarcinoma by activating the Notch1 signaling pathway.
  10. MFAP5 is a useful marker that may help distinguish normal connective tissue from stroma within invasive colonic adenocarcinoma
    Title: Loss of microfibril-associated protein 5 (MFAP5) expression in colon cancer stroma.
Submit: New GeneRIF Correction See all GeneRIFs (28)

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

Associated conditions

Description Tests
Aortic aneurysm, familial thoracic 9
MedGen: C4015368 OMIM: 616166 GeneReviews: Not available
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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
Process Evidence Code Pubs
involved_in definitive hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in embryonic eye morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in supramolecular fiber organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in microfibril IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microfibril ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
microfibrillar-associated protein 5
Names
THE1A-MFAP5
microfibril-associated glycoprotein-2
microfibrillar associated protein 5

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_041814.1 RefSeqGene

    Range
    5063..21946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297709.2 → NP_001284638.1  microfibrillar-associated protein 5 isoform b precursor

    See identical proteins and their annotated locations for NP_001284638.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AK299475, AL833019, DB247952
    Consensus CDS
    CCDS73437.1
    UniProtKB/TrEMBL
    A8K3H0
    Related
    ENSP00000379798.2, ENST00000396549.6
    Conserved Domains (1) summary
    pfam05507
    Location:33 → 128
    MAGP; Microfibril-associated glycoprotein (MAGP)

  2. NM_001297710.2 → NP_001284639.1  microfibrillar-associated protein 5 isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AL833019, BX396041, DB247952
    Consensus CDS
    CCDS76522.1
    UniProtKB/TrEMBL
    A8K3H0, F5GYX4
    Related
    ENSP00000441492.1, ENST00000543369.5
    Conserved Domains (1) summary
    pfam05507
    Location:21 → 116
    MAGP; Microfibril-associated glycoprotein (MAGP)

  3. NM_001297711.2 → NP_001284640.1  microfibrillar-associated protein 5 isoform d precursor

    See identical proteins and their annotated locations for NP_001284640.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AL833019, DB247952
    Consensus CDS
    CCDS76523.1
    UniProtKB/TrEMBL
    A8K3H0, B3KW70
    Related
    ENSP00000411997.2, ENST00000433590.6
    Conserved Domains (1) summary
    pfam05507
    Location:33 → 113
    MAGP; Microfibril-associated glycoprotein (MAGP)

  4. NM_001297712.2 → NP_001284641.1  microfibrillar-associated protein 5 isoform e precursor

    See identical proteins and their annotated locations for NP_001284641.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (e) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AL833019, DA544968, DB247952
    Consensus CDS
    CCDS76524.1
    UniProtKB/TrEMBL
    F5H413
    Related
    ENSP00000438525.1, ENST00000535336.5
    Conserved Domains (1) summary
    pfam05507
    Location:3 → 75
    MAGP; Microfibril-associated glycoprotein (MAGP)

  5. NM_003480.4 → NP_003471.1  microfibrillar-associated protein 5 isoform a precursor

    See identical proteins and their annotated locations for NP_003471.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AI494006, AK124368, AL833019, DB247952, U37283
    Consensus CDS
    CCDS8595.1
    UniProtKB/Swiss-Prot
    B0AZL6, D3DUV1, Q13361, Q7Z490
    UniProtKB/TrEMBL
    A8K3H0
    Related
    ENSP00000352455.2, ENST00000359478.7
    Conserved Domains (1) summary
    pfam05507
    Location:3 → 138
    MAGP; Microfibril-associated glycoprotein (MAGP)

RNA

  1. NR_123733.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI494006, AK124368, AL833019, DB247952, DN996275

  2. NR_123734.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate internal exon, and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI494006, AK124368, AL833019, BU929788, DB247952

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    8645943..8662826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    8629231..8655815 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373294.1 → XP_054229269.1  microfibrillar-associated protein 5 isoform X2

  2. XM_054373293.1 → XP_054229268.1  microfibrillar-associated protein 5 isoform X1

    UniProtKB/Swiss-Prot
    B0AZL6, D3DUV1, Q13361, Q7Z490
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13361.1 GenPept UniProtKB/Swiss-Prot:Q13361

Gene LinkOut

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