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

Gene ID: 4240, updated on 15-Apr-2019

Summary

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
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]
Expression
Broad expression in heart (RPKM 68.1), endometrium (RPKM 47.7) and 22 other tissues See more
Orthologs

Genomic context

See MFGE8 in Genome Data Viewer
Location:
15q26.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 subunit alpha 2 pseudogene

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?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent IEA
Inferred from Electronic Annotation
more info
PubMed 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
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
 
apoptotic cell clearance 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 phagocytosis 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
 

General protein information

Preferred Names
lactadherin
Names
O-acetyl disialoganglioside synthase
breast epithelial antigen BA46
medin
sperm associated antigen 10
sperm surface protein hP47

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_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, ENST00000268151.11
    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, ENST00000542878.5
    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_005928.4NP_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
    Consensus CDS
    CCDS10347.1
    UniProtKB/Swiss-Prot
    Q08431
    Related
    ENSP00000268150.8, ENST00000268150.13
    Conserved Domains (2) summary
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024449930.1XP_024305698.1  lactadherin isoform X1

    Conserved Domains (2) summary
    cd00054
    Location:2665
    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:230384
    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.
  2. XM_017022206.2XP_016877695.1  lactadherin isoform X2

RNA

  1. XR_931838.3 RNA Sequence

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