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    MFAP4 microfibril associated protein 4 [ Homo sapiens (human) ]

    Gene ID: 4239, updated on 9-Dec-2024

    Summary

    Official Symbol
    MFAP4provided by HGNC
    Official Full Name
    microfibril associated protein 4provided by HGNC
    Primary source
    HGNC:HGNC:7035
    See related
    Ensembl:ENSG00000166482 MIM:600596; AllianceGenome:HGNC:7035
    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
    Summary
    This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
    Expression
    Broad expression in gall bladder (RPKM 378.1), lung (RPKM 320.6) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MFAP4 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19383445..19387190, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19331480..19335225, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19286758..19290503, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene B9 domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 2588 Neighboring gene microRNA 1180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19261015-19261514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8288 Neighboring gene uncharacterized LOC105371573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19266095-19266879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19275949-19276498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19283774-19284736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19285982-19286482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19286483-19286983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19288791-19289336 Neighboring gene mitogen-activated protein kinase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19289337-19289882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19289883-19290428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19294419-19295332 Neighboring gene uncharacterized LOC124903947 Neighboring gene ring finger protein 112

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in UV protection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to UV-B IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in elastic fiber assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in elastic fiber assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of collagen metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in supramolecular fiber organization IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    microfibril-associated glycoprotein 4
    Names
    microfibrillar associated protein 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_027952.1 RefSeqGene

      Range
      5030..8775
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198695.2NP_001185624.1  microfibril-associated glycoprotein 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001185624.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC124066, AK293056, AK304528, BQ017631
      Consensus CDS
      CCDS56023.1
      UniProtKB/TrEMBL
      K7ES70
      Related
      ENSP00000378957.2, ENST00000395592.6
      Conserved Domains (1) summary
      cd00087
      Location:60278
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
    2. NM_002404.3NP_002395.1  microfibril-associated glycoprotein 4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_002395.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC124066, AK293056, BQ017631
      Consensus CDS
      CCDS11208.1
      UniProtKB/Swiss-Prot
      A8KAJ1, A8MVM2, B4E317, P55083, Q6P680
      UniProtKB/TrEMBL
      K7ES70
      Related
      ENSP00000299610.5, ENST00000299610.5
      Conserved Domains (1) summary
      cd00087
      Location:36254
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      19383445..19387190 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      19331480..19335225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)