Aliases for MFAP3L Gene

Aliases for MFAP3L Gene

  • Microfibril Associated Protein 3 Like 2 3 5
  • Microfibrillar Associated Protein 3 Like 2 3
  • Microfibrillar-Associated Protein 3-Like 3 4
  • Testis Development Protein NYD-SP9 3 4
  • KIAA0626 2 4
  • NYD-Sp9 2 3
  • Microfi Brillar-Associated Protein 3-Like 3
  • MFAP3L 5

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 Summary 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 , Rfam classification and piRNA Summary for MFAP3L Gene

Genomics for MFAP3L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MFAP3L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J170025 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 640.3 +6.6 6630 3.2 SP1 HNRNPL CREB1 PRDM10 ZNF629 TFE3 NFKBIZ KDM1A ZNF692 LARP7 MFAP3L lnc-CLCN3-12 AADAT ENSG00000251200 RF00017-4453 HPF1 MG828730-051
GH04J170003 Promoter/Enhancer 1 EPDnew Ensembl dbSUPER 611 +29.1 29130 0.6 ZNF316 MAFK MAFG BACH1 SPI1 EMSY MFAP3L AADAT ENSG00000249955 LINC02275 ENSG00000251200 RF00017-4453 HPF1 MG828730-051
GH04J170032 Promoter 0.4 EPDnew 600.7 +0.0 8 0.1 ATF2 MFAP3L lnc-MFAP3L-1 lnc-CLCN3-12 HPF1 MG828730-051
GH04J170088 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 20.5 -58.0 -57969 4.8 GATAD2A CTCF PRDM10 ZNF692 ZIC2 RBFOX2 POLR2A RXRB PATZ1 RAD21 AADAT piR-39098-187 MFAP3L RF00017-4455
GH04J169974 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 18.8 +57.0 56996 2.7 GATAD2A REST TFE3 RXRB SP1 CEBPA SCRT2 MNT SOX13 TCF7 LINC02275 MFAP3L AADAT ENSG00000249955 HPF1 MG828730-051
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFAP3L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFAP3L

Top Transcription factor binding sites by QIAGEN in the MFAP3L gene promoter:
  • AREB6
  • GR
  • GR-alpha
  • GR-beta
  • NF-E2
  • NF-E2 p45
  • NF-kappaB1
  • Nkx6-1
  • Spz1
  • TBP

Genomic Locations for MFAP3L Gene

Genomic Locations for MFAP3L Gene
chr4:169,986,597-170,033,031
(GRCh38/hg38)
Size:
46,435 bases
Orientation:
Minus strand
chr4:170,907,748-170,954,182
(GRCh37/hg19)
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=Extended N-terminus.; 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 Asn111, Asn135, Asn33, Asn37, and Asn67
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MFAP3L Gene

Domains & Families for MFAP3L Gene

Gene Families for MFAP3L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MFAP3L Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin subtype
ProtoNet:

Suggested Antigen Peptide Sequences for MFAP3L Gene

GenScript: Design optimal peptide antigens:
  • Testis development protein NYD-SP9 (MFA3L_HUMAN)
genes like me logo Genes that share domains with MFAP3L: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for MFAP3L Gene

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFAP3L

Clone 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
extracellular 1
golgi apparatus 1
peroxisome 0
endoplasmic reticulum 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MFAP3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 24735981
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 24735981
GO:0005886 plasma membrane IBA,IDA 24735981
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MFAP3L: view

Pathways & Interactions for MFAP3L Gene

PathCards logo

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

mRNA/cDNA for MFAP3L Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFAP3L

Clone 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

Expression for MFAP3L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 30 31
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MFAP3L 30 31
  • 90.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mfap3l 30
  • 87.04 (n)
Mouse
(Mus musculus)
Mammalia Mfap3l 30 17 31
  • 86.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MFAP3L 30 31
  • 79.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MFAP3L 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MFAP3L 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MFAP3L 30 31
  • 71.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MFAP3L 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mfap3l 30
  • 67.55 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC557798 30
  • 72.22 (n)
MFAP3L 31
  • 55 (a)
OneToOne
Dr.13816 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4128 30
Species where no ortholog for MFAP3L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MFAP3L: view image

Paralogs for MFAP3L Gene

Paralogs for MFAP3L Gene

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

  • MFA3L_HUMAN
  • D6R9L7_HUMAN
  • D6RAB5_HUMAN
  • D6RCC0_HUMAN
  • D6RCF0_HUMAN
  • D6RDM6_HUMAN
  • D6RGZ8_HUMAN
genes like me logo Genes that share paralogs with MFAP3L: view

Variants for MFAP3L Gene

Additional dbSNP identifiers (rs#s) for MFAP3L Gene

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)

Additional Variant Information for MFAP3L Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFAP3L Gene

Disorders for MFAP3L Gene

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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. MFAP3L activation promotes colorectal cancer cell invasion and metastasis. (PMID: 24735981) Lou X … Liu S (Biochimica et biophysica acta 2014) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. (PMID: 29955039) Cappella M … Martelli F (Cell death & disease 2018) 3
  5. Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. (PMID: 25390645) Otowa T … Hettema JM (PloS one 2014) 3

Products for MFAP3L Gene

  • Signalway Proteins for MFAP3L

Sources for MFAP3L Gene