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Aliases for MFAP3L Gene

Aliases for MFAP3L Gene

  • Microfibril Associated Protein 3 Like 2 3
  • Microfibrillar Associated Protein 3 Like 2 3 5
  • Testis Development Protein NYD-SP9 3 4
  • Microfi Brillar-Associated Protein 3-Like 3
  • Microfibrillar-Associated Protein 3-Like 3
  • KIAA0626 4
  • NYD-Sp9 3

External Ids for MFAP3L Gene

Previous GeneCards Identifiers for MFAP3L Gene

  • GC04M171604
  • GC04M171282
  • GC04M171144
  • GC04M170907
  • GC04M166662

Summaries for MFAP3L Gene

GeneCards Summary for MFAP3L Gene

MFAP3L (Microfibril Associated Protein 3 Like) is a Protein Coding gene. An important paralog of this gene is MFAP3.

UniProtKB/Swiss-Prot for MFAP3L Gene

  • May participate in the nuclear signaling of EGFR and MAPK1/ERK2. May a have a role in metastasis.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFAP3L Gene

Genomics for MFAP3L Gene

Regulatory Elements for MFAP3L Gene

Enhancers for MFAP3L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G170025 1.3 ENCODE dbSUPER 39.8 +6.3 6254 2.2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 CBX5 ZNF143 ZNF207 SP3 MFAP3L AADAT ENSG00000251200 GC04M169997
GH04G170013 0.6 dbSUPER 81 +16.5 16518 5.8 ZFHX2 MAFF ZNF316 ZSCAN16 WT1 MAFK EGR2 MFAP3L AADAT ENSG00000251200 GC04M169997
GH04G170002 0.8 dbSUPER 32.5 +28.4 28411 3.7 INSM2 FEZF1 ZNF121 ZNF316 GLI2 ZSCAN5C PRDM10 ZNF391 MAFK SCRT1 MFAP3L AADAT ENSG00000249955 LINC02275 ENSG00000251200 CBR4 GC04M169997
GH04G169983 0.6 dbSUPER 42.4 +46.4 46389 5.6 PKNOX1 SMARCA4 CEBPB CEBPG FOS NFE2 ATF2 MFAP3L AADAT ENSG00000251200 ENSG00000249955 GC04M169997
GH04G169989 0.5 dbSUPER 44.2 +38.0 37971 10.5 GATA3 MTA2 DPF2 ATF2 MFAP3L AADAT ENSG00000251200 GC04M169997 ENSG00000249955
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFAP3L on UCSC Golden Path with GeneCards custom track

Genomic Location for MFAP3L Gene

Chromosome:
4
Start:
169,986,597 bp from pter
End:
170,033,031 bp from pter
Size:
46,435 bases
Orientation:
Minus strand

Genomic View for MFAP3L Gene

Genes around MFAP3L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFAP3L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFAP3L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFAP3L Gene

Proteins for MFAP3L Gene

  • Protein details for MFAP3L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75121-MFA3L_HUMAN
    Recommended name:
    Microfibrillar-associated protein 3-like
    Protein Accession:
    O75121
    Secondary Accessions:
    • A8K1X6
    • D3DP35
    • Q4W5N7
    • Q4W5N9
    • Q6TNA8
    • Q9BVE1
    • Q9BXK0

    Protein attributes for MFAP3L Gene

    Size:
    409 amino acids
    Molecular mass:
    45380 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31601.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MFAP3L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFAP3L Gene

Post-translational modifications for MFAP3L Gene

  • Glycosylation at Asn33, posLast=3737, posLast=6767, Asn111, and Asn135
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MFAP3L Gene

Domains & Families for MFAP3L Gene

Gene Families for MFAP3L Gene

Suggested Antigen Peptide Sequences for MFAP3L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MFAP3L: view

No data available for UniProtKB/Swiss-Prot for MFAP3L Gene

Function for MFAP3L Gene

Molecular function for MFAP3L Gene

UniProtKB/Swiss-Prot Function:
May participate in the nuclear signaling of EGFR and MAPK1/ERK2. May a have a role in metastasis.

Gene Ontology (GO) - Molecular Function for MFAP3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24735981
genes like me logo Genes that share ontologies with MFAP3L: view
genes like me logo Genes that share phenotypes with MFAP3L: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MFAP3L

CRISPR Products

miRNA for MFAP3L Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MFAP3L Gene

Localization for MFAP3L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFAP3L Gene

Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm. Note=Mainly localized in the nucleus (PubMed:24735981). {ECO:0000269 PubMed:24735981}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFAP3L gene
Compartment Confidence
plasma membrane 5
nucleus 5
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MFAP3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 24735981
GO:0005737 cytoplasm IEA,IDA 24735981
GO:0005886 plasma membrane IEA,IDA 24735981
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFAP3L: view

Pathways & Interactions for MFAP3L Gene

SuperPathways for MFAP3L Gene

No Data Available

Interacting Proteins for MFAP3L Gene

Gene Ontology (GO) - Biological Process for MFAP3L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MFAP3L Gene

Drugs & Compounds for MFAP3L Gene

No Compound Related Data Available

Transcripts for MFAP3L Gene

Unigene Clusters for MFAP3L Gene

Microfibrillar-associated protein 3-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFAP3L Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e · 4f · 4g ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e
SP1: - - - - - - - - - -
SP2: - - - - - -
SP3: -
SP4: - - - - - - -
SP5: -
SP6:
SP7: - -
SP8: - - -
SP9: - - - - - - - - - - - - -

Relevant External Links for MFAP3L Gene

GeneLoc Exon Structure for
MFAP3L
ECgene alternative splicing isoforms for
MFAP3L

Expression for MFAP3L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MFAP3L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MFAP3L Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MFAP3L Gene



Protein tissue co-expression partners for MFAP3L Gene

NURSA nuclear receptor signaling pathways regulating expression of MFAP3L Gene:

MFAP3L

SOURCE GeneReport for Unigene cluster for MFAP3L Gene:

Hs.593942

mRNA Expression by UniProt/SwissProt for MFAP3L Gene:

O75121-MFA3L_HUMAN
Tissue specificity: Highly expressed in testis.

Evidence on tissue expression from TISSUES for MFAP3L Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with MFAP3L: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFAP3L Gene

Orthologs for MFAP3L Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFAP3L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFAP3L 34 35
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia MFAP3L 34 35
  • 90.03 (n)
rat
(Rattus norvegicus)
Mammalia Mfap3l 34
  • 87.04 (n)
mouse
(Mus musculus)
Mammalia Mfap3l 34 16 35
  • 86.88 (n)
cow
(Bos Taurus)
Mammalia MFAP3L 34 35
  • 79.18 (n)
oppossum
(Monodelphis domestica)
Mammalia MFAP3L 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFAP3L 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFAP3L 34 35
  • 71.32 (n)
lizard
(Anolis carolinensis)
Reptilia MFAP3L 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfap3l 34
  • 67.55 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC557798 34
  • 72.22 (n)
MFAP3L 35
  • 55 (a)
OneToOne
Dr.13816 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4128 34
Species where no ortholog for MFAP3L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MFAP3L Gene

ENSEMBL:
Gene Tree for MFAP3L (if available)
TreeFam:
Gene Tree for MFAP3L (if available)

Paralogs for MFAP3L Gene

Paralogs for MFAP3L Gene

(1) SIMAP similar genes for MFAP3L Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with MFAP3L: view

Variants for MFAP3L Gene

Sequence variations from dbSNP and Humsavar for MFAP3L Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000033622 -- 170,023,665(+) TGGGT(G/T)AGATG intron-variant
rs1000064115 -- 170,020,236(+) TCTGC(C/T)GTACC intron-variant
rs1000086269 -- 169,995,621(+) TAAAT(-/A)ACCTG intron-variant, utr-variant-5-prime
rs1000120126 -- 170,026,134(+) ACCCG(A/T)AAGTT intron-variant
rs1000142270 -- 169,992,777(+) CCTCC(A/G)TTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFAP3L Gene

Variant ID Type Subtype PubMed ID
esv2661256 CNV deletion 23128226
esv3603133 CNV loss 21293372
nsv1020188 CNV loss 25217958
nsv1131843 CNV deletion 24896259
nsv822827 CNV gain 20364138
nsv830149 CNV loss 17160897

Variation tolerance for MFAP3L Gene

Residual Variation Intolerance Score: 42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFAP3L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFAP3L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFAP3L Gene

Disorders for MFAP3L Gene

Relevant External Links for MFAP3L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFAP3L

No disorders were found for MFAP3L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MFAP3L Gene

Publications for MFAP3L Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64
  2. MFAP3L activation promotes colorectal cancer cell invasion and metastasis. (PMID: 24735981) Lou X. … Liu S. (Biochim. Biophys. Acta 2014) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. (PMID: 25390645) Otowa T. … Hettema J.M. (PLoS ONE 2014) 3 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64

Products for MFAP3L Gene

Sources for MFAP3L Gene

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