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Aliases for MFAP1 Gene

Aliases for MFAP1 Gene

  • Microfibrillar Associated Protein 1 2 3 5

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 (Microfibrillar Associated Protein 1) is a Protein Coding gene. Among its related pathways are Elastic fibre formation and Degradation of the extracellular matrix. GO annotations related to this gene include poly(A) RNA binding.

UniProtKB/Swiss-Prot for MFAP1 Gene

  • May be required for pre-mRNA splicing.

Gene Wiki entry for MFAP1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFAP1 Gene

Genomics for MFAP1 Gene

Regulatory Elements for MFAP1 Gene

Enhancers for MFAP1 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
GH15F043823 1.2 ENCODE 20.2 -1.2 -1227 5.7 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CTDSPL2 ENSG00000249839 TUBGCP4 RPS3AP47 MFAP1 ADAL LCMT2 UBR1 ELL3 EIF3J-AS1
GH15F044661 1.6 FANTOM5 ENCODE 10 -839.9 -839853 6.0 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 B2M EIF3J-AS1 MFAP1 HNRNPMP1 TRIM69 ENSG00000249839 SPG11 CATSPER2 PATL2 CTDSPL2
GH15F044723 1.5 FANTOM5 ENCODE 10 -903.1 -903120 9.7 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TRIM69 HNRNPMP1 EIF3J-AS1 BLOC1S6 MFAP1 B2M PATL2 SPG11 LOC100419583 GC15M044672
GH15F044705 1.5 FANTOM5 ENCODE 9.7 -886.7 -886666 11.6 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 CBX5 EIF3J-AS1 HNRNPMP1 TRIM69 BLOC1S6 CTDSPL2 B2M MFAP1 PATL2 SPG11 CASC4
GH15F043774 1.1 ENCODE 11.5 +48.3 48328 3.6 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 ZNF143 ADAL STRC MFAP1 WDR76 SERF2 CATSPER2P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFAP1 on UCSC Golden Path with GeneCards custom track

Promoters for MFAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001794460 302 1401 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for MFAP1 Gene

Chromosome:
15
Start:
43,804,492 bp from pter
End:
43,824,802 bp from pter
Size:
20,311 bases
Orientation:
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:
    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 Lys 357, Lys 376, Lys 381, Lys 390, and Lys 415
  • 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

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

No data available for Gene Families for MFAP1 Gene

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.

Gene Ontology (GO) - Molecular Function for MFAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22365833
GO:0044822 poly(A) RNA binding IDA 22658674
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

  • Taconic Biosciences Mouse Models for MFAP1

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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:0005578 proteinaceous extracellular matrix IEA --
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

Transcripts for MFAP1 Gene

mRNA/cDNA for MFAP1 Gene

Unigene Clusters for MFAP1 Gene

Microfibrillar-associated protein 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with MFAP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 100 (a)
Mfap1a 34 35
  • 91.19 (n)
chimpanzee
(Pan troglodytes)
Mammalia MFAP1 34 35
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia MFAP1 34 35
  • 94.23 (n)
cow
(Bos Taurus)
Mammalia MFAP1 34 35
  • 93.24 (n)
rat
(Rattus norvegicus)
Mammalia Mfap1a 34
  • 91.88 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MFAP1 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFAP1 34 35
  • 80.56 (n)
lizard
(Anolis carolinensis)
Reptilia MFAP1 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfap1 34
  • 76.81 (n)
Str.8236 34
African clawed frog
(Xenopus laevis)
Amphibia mfap1-prov 34
zebrafish
(Danio rerio)
Actinopterygii mfap1 34 35
  • 73.17 (n)
zgc56551 34
fruit fly
(Drosophila melanogaster)
Insecta CG1017 36
  • 60 (a)
Mfap1 34 35
  • 58.64 (n)
worm
(Caenorhabditis elegans)
Secernentea mfap-1 34 35
  • 58.74 (n)
F43G9.10 36
  • 52 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12928 34
rice
(Oryza sativa)
Liliopsida Os02g0280100 34
  • 49.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9241 35
  • 51 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4749 34
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 Sequence Context AA Info Type
rs1048502 -- 43,813,288(-) GAAGC(A/C)AAACG reference, synonymous-codon
rs1048525 -- 43,804,589(-) GAATC(A/C)CACAA utr-variant-3-prime
rs1048526 -- 43,804,587(-) ATCAC(A/C)CAACA utr-variant-3-prime
rs10709037 -- 43,813,529(+) AGGTC(-/T)TTTTT intron-variant
rs111442925 -- 43,817,085(+) ATAAT(A/T)GCACC 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)

Relevant External Links for MFAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFAP1

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

Disorders for MFAP1 Gene

Relevant External Links for MFAP1

Genetic Association Database (GAD)
MFAP1
Human Genome Epidemiology (HuGE) Navigator
MFAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFAP1

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 64
  2. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for MFAP1 Gene

Sources for MFAP1 Gene

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