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Aliases for MFAP1 Gene

Aliases for MFAP1 Gene

  • Microfibril Associated Protein 1 2 3 5
  • Microfibrillar Associated Protein 1 2 3
  • Microfibrillar-Associated Protein 1 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 Elastic fibre formation and Canonical and Non-canonical Notch signaling.

UniProtKB/Swiss-Prot for MFAP1 Gene

  • May be required for pre-mRNA splicing.

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 , fRNAdb sequence ontologies and piRNA Summary for MFAP1 Gene

Genomics for MFAP1 Gene

GeneHancer (GH) Regulatory Elements for MFAP1 Gene

Promoters and enhancers for MFAP1 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
GH15I043823 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 563.3 -1.2 -1226 5.7 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 GLIS1 NBN WDR76 MFAP1 SPG11 CTDSPL2 ENSG00000249839 ZSCAN29 ENSG00000259563 ADAL CATSPER2 TUBGCP4
GH15I044192 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 18.9 -369.5 -369472 3.4 PKNOX1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B GLIS2 ZNF213 ZNF143 KLF7 FRMD5 ZSCAN29 CTDSPL2 MFAP1 CATSPER2 STRCP1 ADAL GC15P044099
GH15I043491 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 18.9 +331.6 331569 3.2 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B TP53BP1 ZSCAN29 ADAL TGM7 CTDSPL2 MFAP1 UBR1 TUBGCP4 CDAN1 GC15M043494
GH15I043508 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +314.7 314671 3.5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 TP53BP1 MAP1A GC15M043498 ZSCAN29 CTDSPL2 ADAL CDAN1 LRRC57 LCMT2 UBR1
GH15I043745 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.7 +77.9 77901 2.6 HDGF ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF143 SP3 SP5 NFYC PDIA3 CATSPER2P1 STRCP1 CTDSPL2 WDR76 MFAP1 SPG11 LCMT2 ELL3 ZSCAN29
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MFAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MFAP1 gene promoter:

Genomic Locations for MFAP1 Gene

Genomic Locations for MFAP1 Gene
chr15:43,804,492-43,824,802
(GRCh38/hg38)
Size:
20,311 bases
Orientation:
Minus strand
chr15:44,096,690-44,117,000
(GRCh37/hg19)

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:
    P55081-MFAP1_HUMAN
    Recommended name:
    Microfibrillar-associated protein 1
    Protein Accession:
    P55081
    Secondary Accessions:
    • Q86TG6

    Protein attributes for MFAP1 Gene

    Size:
    439 amino acids
    Molecular mass:
    51958 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MFAP1 Gene

neXtProt entry for MFAP1 Gene

Post-translational modifications for MFAP1 Gene

  • Ubiquitination at posLast=357357, isoforms=376, posLast=381381, isoforms=390, and posLast=415415
  • 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

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

Protein Domains for MFAP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55081

UniProtKB/Swiss-Prot:

MFAP1_HUMAN :
  • Belongs to the MFAP1 family.
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

GENATLAS Biochemistry:
microfibrillar associated glycoprotein 1,54kDa,located in non elastic fibrils of ocular zonules
UniProtKB/Swiss-Prot Function:
May be required for pre-mRNA splicing.

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 IDA,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

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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
  • Plasma membrane (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 --
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:0008150 biological_process ND --
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

Unigene Clusters for MFAP1 Gene

Microfibrillar-associated protein 1:
Representative Sequences:

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
MFAP1
ECgene alternative splicing isoforms for
MFAP1

Expression for MFAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MFAP1 Gene



Protein tissue co-expression partners for MFAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MFAP1 Gene:

MFAP1

SOURCE GeneReport for Unigene cluster for MFAP1 Gene:

Hs.61418

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
mouse
(Mus musculus)
Mammalia Mfap1b 16 34
  • 100 (a)
Mfap1a 33 34
  • 91.19 (n)
chimpanzee
(Pan troglodytes)
Mammalia MFAP1 33 34
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia MFAP1 33 34
  • 94.23 (n)
cow
(Bos Taurus)
Mammalia MFAP1 33 34
  • 93.24 (n)
rat
(Rattus norvegicus)
Mammalia Mfap1a 33
  • 91.88 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 89 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MFAP1 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFAP1 33 34
  • 80.56 (n)
lizard
(Anolis carolinensis)
Reptilia MFAP1 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfap1 33
  • 76.81 (n)
Str.8236 33
African clawed frog
(Xenopus laevis)
Amphibia mfap1-prov 33
zebrafish
(Danio rerio)
Actinopterygii mfap1 33 34
  • 73.17 (n)
zgc56551 33
fruit fly
(Drosophila melanogaster)
Insecta CG1017 35
  • 60 (a)
Mfap1 33 34
  • 58.64 (n)
worm
(Caenorhabditis elegans)
Secernentea mfap-1 33 34
  • 58.74 (n)
F43G9.10 35
  • 52 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12928 33
rice
(Oryza sativa)
Liliopsida Os02g0280100 33
  • 49.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9241 34
  • 51 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4749 33
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

ENSEMBL:
Gene Tree for MFAP1 (if available)
TreeFam:
Gene Tree for MFAP1 (if available)

Paralogs for MFAP1 Gene

Pseudogenes.org 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

Sequence variations from dbSNP and Humsavar for MFAP1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000096443 -- 43,818,929(-) T/C intron_variant
rs1000228290 -- 43,807,689(-) C/T intron_variant
rs1000232454 -- 43,816,238(-) C/A intron_variant
rs1000569734 -- 43,818,060(-) C/G intron_variant
rs1000597408 -- 43,806,815(-) T/G intron_variant

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
MFAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFAP1 Gene

Disorders for MFAP1 Gene

Additional Disease Information for MFAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  2. 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 58
  3. 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 44 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58

Products for MFAP1 Gene

Sources for MFAP1 Gene

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