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

    Gene ID: 8076, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8645943..8662826, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8629231..8655815, complement)
    RS_2024_09 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 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. The exon structure of the human MAGP-2 gene. Similarity with the MAGP-1 gene is confined to two exons encoding a cysteine-rich region. Hatzinikolas G, et al. J Biol Chem, 1998 Nov 6. PMID 9792630
    3. Microfibril-associated glycoprotein-2 specifically interacts with a range of bovine and human cell types via alphaVbeta3 integrin. Gibson MA, et al. J Biol Chem, 1999 May 7. PMID 10224057
    4. Microfibril-associate glycoprotein-2 (MAGP-2) promotes angiogenic cell sprouting by blocking notch signaling in endothelial cells. Albig AR, et al. Microvasc Res, 2008 May. PMID 18417156, Free PMC Article
    5. A gene signature predictive for outcome in advanced ovarian cancer identifies a survival factor: microfibril-associated glycoprotein 2. Mok SC, et al. Cancer Cell, 2009 Dec 8. PMID 19962670, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loci cg06256735 and cg15815843 in the MFAP5 gene regulatory regions are hypomethylated in varicose veins apparently due to active demethylation.
      Title: Loci cg06256735 and cg15815843 in the MFAP5 gene regulatory regions are hypomethylated in varicose veins apparently due to active demethylation.
    2. 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.
    3. 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.
    4. MAGP2 induces tumor progression by enhancing uPAR-mediated cell proliferation.
      Title: MAGP2 induces tumor progression by enhancing uPAR-mediated cell proliferation.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    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
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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_2024_08

    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

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

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