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    MFAP3 microfibril associated protein 3 [ Homo sapiens (human) ]

    Gene ID: 4238, updated on 15-Jun-2019

    Summary

    Official Symbol
    MFAP3provided by HGNC
    Official Full Name
    microfibril associated protein 3provided by HGNC
    Primary source
    HGNC:HGNC:7034
    See related
    Ensembl:ENSG00000037749 MIM:600491
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in placenta (RPKM 9.1), urinary bladder (RPKM 9.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See MFAP3 in Genome Data Viewer
    Location:
    5q33.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (154038959..154057454)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153418519..153437014)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983980 Neighboring gene family with sequence similarity 114 member A2 Neighboring gene uncharacterized LOC107986465 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 10 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 7

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Elastic fibre formation, organism-specific biosystem (from REACTOME)
      Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
      Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp586F0219

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    microfibril-associated glycoprotein 3
    Names
    microfibrillar associated protein 3

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001135037.2NP_001128509.1  microfibril-associated glycoprotein 3 isoform 2

      See identical proteins and their annotated locations for NP_001128509.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon and uses a downstream start codon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC022088, AK296468
      Consensus CDS
      CCDS47319.1
      UniProtKB/Swiss-Prot
      P55082
      Related
      ENSP00000414219.2, ENST00000439768.2
    2. NM_001242336.2NP_001229265.1  microfibril-associated glycoprotein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001229265.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC010232, AC022088
      Consensus CDS
      CCDS4324.1
      UniProtKB/Swiss-Prot
      P55082
      Related
      ENSP00000322956.5, ENST00000322602.9
      Conserved Domains (2) summary
      smart00408
      Location:65130
      IGc2; Immunoglobulin C-2 Type
      cl24079
      Location:157273
      Helo_like_N; Fungal N-terminal domain of STAND proteins
    3. NM_005927.5NP_005918.1  microfibril-associated glycoprotein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005918.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC022088, AK296468, CB994356
      Consensus CDS
      CCDS4324.1
      UniProtKB/Swiss-Prot
      P55082
      Conserved Domains (2) summary
      smart00408
      Location:65130
      IGc2; Immunoglobulin C-2 Type
      cl24079
      Location:157273
      Helo_like_N; Fungal N-terminal domain of STAND proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      154038967..154057450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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