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

    Gene ID: 8076, updated on 22-Apr-2017
    Official Symbol
    MFAP5provided by HGNC
    Official Full Name
    microfibrillar associated protein 5provided by HGNC
    Primary source
    HGNC:HGNC:29673
    See related
    Ensembl:ENSG00000197614 MIM:601103; Vega:OTTHUMG00000168703
    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]
    Orthologs
    Location:
    12p13.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (8645943..8662888, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8798540..8815433, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene activation induced cytidine deaminase Neighboring gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2 Neighboring gene Fanconi anemia core complex-associated protein 24-like Neighboring gene ribosomal modification protein rimK like family member B Neighboring gene ribosomal protein SA pseudogene 51

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    definitive hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    supramolecular fiber organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    microfibril ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    microfibrillar-associated protein 5
    Names
    THE1A-MFAP5
    microfibril-associated glycoprotein-2

    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
      5001..21946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001297709.1NP_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/Swiss-Prot
      Q13361
      UniProtKB/TrEMBL
      B3KW70
      Related
      ENSP00000379798.2, OTTHUMP00000239220, ENST00000396549.6, OTTHUMT00000400658
      Conserved Domains (1) summary
      pfam05507
      Location:33128
      MAGP; Microfibril-associated glycoprotein (MAGP)
    2. NM_001297710.1NP_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
      B3KW70, F5GYX4
      Related
      ENSP00000441492.1, OTTHUMP00000239268, ENST00000543369.5, OTTHUMT00000400738
      Conserved Domains (1) summary
      pfam05507
      Location:21116
      MAGP; Microfibril-associated glycoprotein (MAGP)
    3. NM_001297711.1NP_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
      B3KW70
      Related
      ENSP00000411997.2, OTTHUMP00000239219, ENST00000433590.6, OTTHUMT00000400657
      Conserved Domains (1) summary
      pfam05507
      Location:33113
      MAGP; Microfibril-associated glycoprotein (MAGP)
    4. NM_001297712.1NP_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
      B3KW70, F5H413
      Related
      ENSP00000438525.1, OTTHUMP00000239270, ENST00000535336.5, OTTHUMT00000400741
      Conserved Domains (1) summary
      pfam05507
      Location:1078
      MAGP; Microfibril-associated glycoprotein (MAGP)
    5. NM_003480.3NP_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
      Q13361
      UniProtKB/TrEMBL
      B3KW70
      Related
      ENSP00000352455.2, OTTHUMP00000239218, ENST00000359478.6, OTTHUMT00000400656
      Conserved Domains (1) summary
      pfam05507
      Location:10138
      MAGP; Microfibril-associated glycoprotein (MAGP)

    RNA

    1. NR_123733.1 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_123734.1 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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      8645943..8662888 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      8767518..8784459 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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