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    MFGE8 milk fat globule-EGF factor 8 protein [ Homo sapiens (human) ]

    Gene ID: 4240, updated on 5-Nov-2017
    Official Symbol
    MFGE8provided by HGNC
    Official Full Name
    milk fat globule-EGF factor 8 proteinprovided by HGNC
    Primary source
    HGNC:HGNC:7036
    See related
    Ensembl:ENSG00000140545 MIM:602281; Vega:OTTHUMG00000148682
    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
    BA46; HMFG; MFGM; SED1; hP47; EDIL1; MFG-E8; SPAG10; OAcGD3S; HsT19888
    Summary
    This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
    Orthologs
    Location:
    15q26.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (88898683..88913469, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89441914..89456685, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370960 Neighboring gene aggrecan Neighboring gene hyaluronan and proteoglycan link protein 3 Neighboring gene keratin 18 pseudogene 47 Neighboring gene capping actin protein of muscle Z-line alpha subunit 2 pseudogene

    • 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?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of milk fat globule-EGF factor 8 protein (MFGE8) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    integrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylethanolamine binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylserine binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    phagocytosis, engulfment IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytosis, recognition IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic cell clearance IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extrinsic component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    lactadherin
    Names
    O-acetyl disialoganglioside synthase
    breast epithelial antigen BA46
    medin
    sperm associated antigen 10
    sperm surface protein hP47

    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_001114614.2NP_001108086.1  lactadherin isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK222735, BC003610, BU726667, HY079149
      Consensus CDS
      CCDS45345.1
      UniProtKB/Swiss-Prot
      Q08431
      UniProtKB/TrEMBL
      X6R3G6
      Related
      ENSP00000268151.7, OTTHUMP00000247017, ENST00000268151.11, OTTHUMT00000415572
      Conserved Domains (4) summary
      smart00231
      Location:69225
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00054
      Location:2867
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00057
      Location:72224
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      pfam00754
      Location:245332
      F5_F8_type_C; F5/8 type C domain
    2. NM_001310319.1NP_001297248.1  lactadherin isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (d) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK222735, AK304627, BU726667, HY079149
      Consensus CDS
      CCDS81918.1
      UniProtKB/Swiss-Prot
      Q08431
      UniProtKB/TrEMBL
      B4E396, F5GZN3
      Related
      ENSP00000444332.1, OTTHUMP00000247018, ENST00000542878.5, OTTHUMT00000415574
      Conserved Domains (2) summary
      smart00231
      Location:185343
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00057
      Location:188342
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
    3. NM_001310320.1NP_001297249.1  lactadherin isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate internal exon resulting in the use of an alternate translation start site, compared to variant 1. The encoded isoform (c) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AK095908, AK222735, BU726667, HY079149
      UniProtKB/Swiss-Prot
      Q08431
      UniProtKB/TrEMBL
      B3KTQ2
      Conserved Domains (3) summary
      smart00231
      Location:221379
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00054
      Location:2059
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00057
      Location:224378
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
    4. NM_001310321.1NP_001297250.1  lactadherin isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) includes an alternate 5' terminal exon resulting in the use of a downstream in-frame translation start site, compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AK222735, BP219231, BU726667, BX537974
      UniProtKB/Swiss-Prot
      Q08431
      Conserved Domains (2) summary
      smart00231
      Location:117275
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00057
      Location:120274
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
    5. NM_005928.3NP_005919.2  lactadherin isoform a preproprotein

      See identical proteins and their annotated locations for NP_005919.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK222735, BU726667, HY079149
      Consensus CDS
      CCDS10347.1
      UniProtKB/Swiss-Prot
      Q08431
      Related
      ENSP00000268150.8, OTTHUMP00000192921, ENST00000268150.12, OTTHUMT00000309072
      Conserved Domains (3) summary
      smart00231
      Location:229387
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00054
      Location:2867
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00057
      Location:232386
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

    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_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      88898683..88913469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022206.1XP_016877695.1  lactadherin isoform X1

    RNA

    1. XR_931838.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      89282553..89297318 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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