Aliases for MFAP1 Gene

Aliases for MFAP1 Gene

  • Microfibril Associated Protein 1 2 3 5
  • Microfibrillar-Associated Protein 1 3 4
  • Spliceosome B Complex Protein MFAP1 3 4
  • Microfibrillar Associated Protein 1 2 3
  • AMP 3

External Ids for MFAP1 Gene

Previous GeneCards Identifiers for MFAP1 Gene

  • GC15M039463
  • GC15M036992
  • GC15M041675
  • GC15M041812
  • GC15M041884
  • GC15M044096
  • GC15M020919

Summaries for MFAP1 Gene

GeneCards Summary for MFAP1 Gene

MFAP1 (Microfibril Associated Protein 1) is a Protein Coding gene. Among its related pathways are Degradation of the extracellular matrix and Canonical and Non-canonical Notch signaling.

UniProtKB/Swiss-Prot Summary for MFAP1 Gene

Gene Wiki entry for MFAP1 Gene

Additional gene information for MFAP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFAP1 Gene

Genomics for MFAP1 Gene

GeneHancer (GH) Regulatory Elements for MFAP1 Gene

Promoters and enhancers for MFAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFAP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFAP1

Top Transcription factor binding sites by QIAGEN in the MFAP1 gene promoter:
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • JunB
  • JunD
  • NF-1
  • NF-1/L
  • POU2F1
  • POU2F1a

Genomic Locations for MFAP1 Gene

Genomic Locations for MFAP1 Gene
20,262 bases
Minus strand
20,311 bases
Minus strand

Genomic View for MFAP1 Gene

Genes around MFAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFAP1 Gene

Proteins for MFAP1 Gene

  • Protein details for MFAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Microfibrillar-associated protein 1
    Protein Accession:
    Secondary Accessions:
    • Q86TG6

    Protein attributes for MFAP1 Gene

    439 amino acids
    Molecular mass:
    51958 Da
    Quaternary structure:
    • Component of the spliceosome B complex (PubMed:28781166). Interacts with PRPF38A (via N-terminal interaction domain) (PubMed:26673105, PubMed:27773687).

    Three dimensional structures from OCA and Proteopedia for MFAP1 Gene

neXtProt entry for MFAP1 Gene

Post-translational modifications for MFAP1 Gene

  • Ubiquitination at Lys357, Lys376, Lys381, Lys390, and Lys415
  • Modification sites at PhosphoSitePlus

Other Protein References for MFAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MFAP1 Gene

Domains & Families for MFAP1 Gene

Gene Families for MFAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MFAP1 Gene


Suggested Antigen Peptide Sequences for MFAP1 Gene

GenScript: Design optimal peptide antigens:
  • Microfibrillar-associated protein 1 (MFAP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the MFAP1 family.
  • Belongs to the MFAP1 family.
genes like me logo Genes that share domains with MFAP1: view

Function for MFAP1 Gene

Molecular function for MFAP1 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as a component of the spliceosome.
GENATLAS Biochemistry:
microfibrillar associated glycoprotein 1,54kDa,located in non elastic fibrils of ocular zonules

Phenotypes From GWAS Catalog for MFAP1 Gene

Gene Ontology (GO) - Molecular Function for MFAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 22365833
genes like me logo Genes that share ontologies with MFAP1: view
genes like me logo Genes that share phenotypes with MFAP1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MFAP1 Gene

Localization for MFAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFAP1 Gene

Subcellular locations from

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 MFAP1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 4
plasma membrane 2
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Centrosome (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MFAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril IDA 1374398
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA,IDA 28781166
GO:0005654 nucleoplasm IDA --
GO:0005681 spliceosomal complex IEA --
genes like me logo Genes that share ontologies with MFAP1: view

Pathways & Interactions for MFAP1 Gene

genes like me logo Genes that share pathways with MFAP1: view

Pathways by source for MFAP1 Gene

Gene Ontology (GO) - Biological Process for MFAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IDA 28781166
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with MFAP1: view

No data available for SIGNOR curated interactions for MFAP1 Gene

Drugs & Compounds for MFAP1 Gene

No Compound Related Data Available

Transcripts for MFAP1 Gene

mRNA/cDNA for MFAP1 Gene

5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFAP1 Gene

No ASD Table

Relevant External Links for MFAP1 Gene

GeneLoc Exon Structure for

Expression for MFAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MFAP1 Gene

Protein differential expression in normal tissues from HIPED for MFAP1 Gene

This gene is overexpressed in Esophagus (32.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MFAP1 Gene

Protein tissue co-expression partners for MFAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFAP1

SOURCE GeneReport for Unigene cluster for MFAP1 Gene:


Evidence on tissue expression from TISSUES for MFAP1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Muscle(4.4)
  • Skin(4.2)
  • Heart(2.1)
  • Kidney(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with MFAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFAP1 Gene

Orthologs for MFAP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MFAP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Mfap1a 31
  • 100 (a)
Mfap1b 17 31 30
  • 91.19 (n)
(Pan troglodytes)
Mammalia MFAP1 31 30
  • 99.85 (n)
(Canis familiaris)
Mammalia MFAP1 31 30
  • 94.23 (n)
(Bos Taurus)
Mammalia MFAP1 31 30
  • 93.24 (n)
(Rattus norvegicus)
Mammalia Mfap1a 30
  • 91.88 (n)
(Ornithorhynchus anatinus)
Mammalia MFAP1 31
  • 90 (a)
(Monodelphis domestica)
Mammalia -- 31
  • 90 (a)
-- 31
  • 89 (a)
-- 31
  • 86 (a)
(Gallus gallus)
Aves MFAP1 31 30
  • 80.56 (n)
(Anolis carolinensis)
Reptilia MFAP1 31
  • 93 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mfap1 30
  • 76.81 (n)
Str.8236 30
African clawed frog
(Xenopus laevis)
Amphibia mfap1-prov 30
(Danio rerio)
Actinopterygii mfap1 31 30
  • 73.17 (n)
zgc56551 30
fruit fly
(Drosophila melanogaster)
Insecta CG1017 32
  • 60 (a)
Mfap1 31 30
  • 58.64 (n)
(Caenorhabditis elegans)
Secernentea mfap-1 31 30
  • 58.74 (n)
F43G9.10 32
  • 52 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12928 30
(Oryza sativa)
Liliopsida Os02g0280100 30
  • 49.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9241 31
  • 51 (a)
Cin.4749 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4749 30
Species where no ortholog for MFAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for MFAP1 Gene

Gene Tree for MFAP1 (if available)
Gene Tree for MFAP1 (if available)
Evolutionary constrained regions (ECRs) for MFAP1: view image

Paralogs for MFAP1 Gene Pseudogenes for MFAP1 Gene

genes like me logo Genes that share paralogs with MFAP1: view

No data available for Paralogs for MFAP1 Gene

Variants for MFAP1 Gene

Additional dbSNP identifiers (rs#s) for MFAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MFAP1 Gene

Variant ID Type Subtype PubMed ID
esv2760028 CNV gain+loss 17122850
nsv1036318 CNV gain 25217958
nsv1050263 CNV loss 25217958
nsv1122956 CNV deletion 24896259
nsv1131180 CNV deletion 24896259

Variation tolerance for MFAP1 Gene

Residual Variation Intolerance Score: 17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MFAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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 MFAP1 Gene

Disorders for MFAP1 Gene

Additional Disease Information for MFAP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MFAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MFAP1 Gene

Publications for MFAP1 Gene

  1. Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21. (PMID: 7835894) Yeh H … Rosenbloom J (Genomics 1994) 2 3 4 54
  2. Cryo-EM Structure of a Pre-catalytic Human Spliceosome Primed for Activation. (PMID: 28781166) Bertram K … Stark H (Cell 2017) 3 4 54
  3. Human MFAP1 is a cryptic ortholog of the Saccharomyces cerevisiae Spp381 splicing factor. (PMID: 28335716) Ulrich AK … Wahl MC (BMC evolutionary biology 2017) 2 3 54
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54

Products for MFAP1 Gene

Sources for MFAP1 Gene