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Aliases for FRAS1 Gene

Aliases for FRAS1 Gene

  • Fraser Extracellular Matrix Complex Subunit 1 2 3 5
  • Fraser Syndrome 1 2
  • KIAA1500 4

External Ids for FRAS1 Gene

Previous GeneCards Identifiers for FRAS1 Gene

  • GC00U900628
  • GC04P079732
  • GC04P079437
  • GC04P079336
  • GC04P079198
  • GC04P078978
  • GC04P074729

Summaries for FRAS1 Gene

Entrez Gene Summary for FRAS1 Gene

  • This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for FRAS1 Gene

FRAS1 (Fraser Extracellular Matrix Complex Subunit 1) is a Protein Coding gene. Diseases associated with FRAS1 include Fraser Syndrome and Renal Agenesis, Unilateral. Among its related pathways are Phospholipase-C Pathway and ERK Signaling. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FREM2.

Gene Wiki entry for FRAS1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRAS1 Gene

Genomics for FRAS1 Gene

Regulatory Elements for FRAS1 Gene

Enhancers for FRAS1 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
GH04F078055 1.4 FANTOM5 ENCODE 13 +0.8 807 4.1 ARID4B SIN3A FEZF1 GLI4 DMAP1 ZNF48 ZNF2 GLIS2 ZNF143 KLF7 FRAS1 GC04M078093
GH04F078529 0.8 FANTOM5 ENCODE 19.2 +472.8 472819 1.3 JUND SMARCA4 FOS FRAS1 ANXA3 GC04M078509
GH04F078426 0.5 ENCODE 24.2 +369.9 369865 1.3 RAD51 HLF USF2 FRAS1 GC04P078388 GC04M078476
GH04F078533 0.5 ENCODE 22.6 +477.7 477672 2.6 SOX13 ZBTB40 TEAD3 FRAS1 ANXA3 GC04M078509
GH04F078423 0.4 ENCODE 24.2 +367.7 367675 2.2 PKNOX1 ZNF585B FRAS1 ANXA3 GC04P078388 GC04M078476
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FRAS1 on UCSC Golden Path with GeneCards custom track

Promoters for FRAS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001243591 1032 4000 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 ZNF263 SP3 SP5 MXD4

Genomic Location for FRAS1 Gene

Chromosome:
4
Start:
78,056,968 bp from pter
End:
78,544,269 bp from pter
Size:
487,302 bases
Orientation:
Plus strand

Genomic View for FRAS1 Gene

Genes around FRAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRAS1 Gene

Proteins for FRAS1 Gene

  • Protein details for FRAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XX4-FRAS1_HUMAN
    Recommended name:
    Extracellular matrix protein FRAS1
    Protein Accession:
    Q86XX4
    Secondary Accessions:
    • A2RRR8
    • Q86UZ4
    • Q8N3U9
    • Q8NAU7
    • Q96JW7
    • Q9H6N9
    • Q9P228

    Protein attributes for FRAS1 Gene

    Size:
    4008 amino acids
    Molecular mass:
    443214 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15216.1; Type=Frameshift; Positions=1858, 1951; Evidence={ECO:0000305};

    Alternative splice isoforms for FRAS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRAS1 Gene

Post-translational modifications for FRAS1 Gene

  • Glycosylation at Asn 361, Asn 728, Asn 1093, Asn 1108, Asn 1504, Asn 1777, Asn 1948, Asn 1978, Thr 2331, Asn 2563, Asn 2664, Asn 2682, Asn 2908, Asn 2985, Asn 3070, Asn 3218, Asn 3676, and Asn 3875
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FRAS1 Gene

Domains & Families for FRAS1 Gene

Suggested Antigen Peptide Sequences for FRAS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86XX4

UniProtKB/Swiss-Prot:

FRAS1_HUMAN :
  • The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
  • Belongs to the FRAS1 family.
  • Contains 12 CSPG (NG2) repeats.
Domain:
  • The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
  • Contains 5 Calx-beta domains.
  • Contains 6 VWFC domains.
Family:
  • Belongs to the FRAS1 family.
Similarity:
  • Contains 12 CSPG (NG2) repeats.
  • Contains 14 FU (furin-like) repeats.
genes like me logo Genes that share domains with FRAS1: view

No data available for Gene Families for FRAS1 Gene

Function for FRAS1 Gene

Gene Ontology (GO) - Molecular Function for FRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FRAS1: view
genes like me logo Genes that share phenotypes with FRAS1: view

Human Phenotype Ontology for FRAS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FRAS1 Gene

MGI Knock Outs for FRAS1:

Animal Model Products

miRNA for FRAS1 Gene

miRTarBase miRNAs that target FRAS1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FRAS1 Gene

Localization for FRAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRAS1 Gene

Cell membrane; Single-pass type I membrane protein; Extracellular side.

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 FRAS1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
nucleus 2

Gene Ontology (GO) - Cellular Components for FRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031012 colocalizes_with extracellular matrix IEA,ISS 22261194
genes like me logo Genes that share ontologies with FRAS1: view

Pathways & Interactions for FRAS1 Gene

genes like me logo Genes that share pathways with FRAS1: view

Pathways by source for FRAS1 Gene

Interacting Proteins for FRAS1 Gene

Gene Ontology (GO) - Biological Process for FRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IEA --
GO:0003338 metanephros morphogenesis IEA --
GO:0007154 cell communication IEA --
GO:0015031 protein transport IEA --
GO:0030326 embryonic limb morphogenesis IEA --
genes like me logo Genes that share ontologies with FRAS1: view

No data available for SIGNOR curated interactions for FRAS1 Gene

Drugs & Compounds for FRAS1 Gene

(1) Drugs for FRAS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with FRAS1: view

Transcripts for FRAS1 Gene

Unigene Clusters for FRAS1 Gene

Fraser syndrome 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRAS1 Gene

No ASD Table

Relevant External Links for FRAS1 Gene

GeneLoc Exon Structure for
FRAS1
ECgene alternative splicing isoforms for
FRAS1

Expression for FRAS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FRAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FRAS1 Gene

This gene is overexpressed in Thyroid (x4.4).

Protein differential expression in normal tissues from HIPED for FRAS1 Gene

This gene is overexpressed in Pancreas (27.3) and Amniocyte (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FRAS1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FRAS1 Gene:

FRAS1

SOURCE GeneReport for Unigene cluster for FRAS1 Gene:

Hs.369448

mRNA Expression by UniProt/SwissProt for FRAS1 Gene:

Q86XX4-FRAS1_HUMAN
Tissue specificity: Expressed in many adult tissues, with highest levels in kidney, pancreas and thalamus. Relatively high expression was also detected in fetal kidney and heart.
genes like me logo Genes that share expression patterns with FRAS1: view

Primer Products

No data available for Protein tissue co-expression partners for FRAS1 Gene

Orthologs for FRAS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FRAS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FRAS1 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia FRAS1 34 35
  • 88.97 (n)
cow
(Bos Taurus)
Mammalia FRAS1 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fras1 34 16 35
  • 84.5 (n)
rat
(Rattus norvegicus)
Mammalia Fras1 34
  • 84.43 (n)
oppossum
(Monodelphis domestica)
Mammalia FRAS1 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRAS1 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRAS1 34 35
  • 71.28 (n)
lizard
(Anolis carolinensis)
Reptilia FRAS1 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fras1 34
  • 67.75 (n)
zebrafish
(Danio rerio)
Actinopterygii fras1 34 35
  • 64.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
OneToOne
Species where no ortholog for FRAS1 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for FRAS1 Gene

ENSEMBL:
Gene Tree for FRAS1 (if available)
TreeFam:
Gene Tree for FRAS1 (if available)

Paralogs for FRAS1 Gene

Paralogs for FRAS1 Gene

genes like me logo Genes that share paralogs with FRAS1: view

Variants for FRAS1 Gene

Sequence variations from dbSNP and Humsavar for FRAS1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs120074156 Pathogenic 78,481,962(+) TTGAA(C/T)AGGTG reference, stop-gained
rs120074157 Pathogenic 78,496,859(+) AGGAA(C/T)AGTTC reference, stop-gained
rs120074158 Pathogenic 78,387,525(+) TGCTT(C/T)AGACA reference, stop-gained
rs120074159 Pathogenic 78,407,804(+) GCACT(C/G)AGGAG reference, stop-gained
rs377046630 Pathogenic 78,252,452(+) AAGTC(C/T)GATGT reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for FRAS1 Gene

Variant ID Type Subtype PubMed ID
esv3366862 CNV duplication 20981092
esv3373670 CNV insertion 20981092
esv3374917 CNV insertion 20981092
esv3379223 CNV insertion 20981092
esv3387634 CNV insertion 20981092
esv3388559 CNV insertion 20981092
esv3404451 CNV insertion 20981092
esv3421858 CNV insertion 20981092
nsv516836 CNV gain 19592680
nsv513140 CNV loss 21212237
nsv508290 CNV deletion 20534489
nsv499049 CNV loss 21111241
nsv4400 CNV insertion 18451855
nsv4399 CNV deletion 18451855
nsv4396 CNV deletion 18451855
nsv292160 CNV deletion 16902084
nsv291328 CNV insertion 16902084
nsv290709 CNV deletion 16902084
nsv1153459 CNV deletion 26484159
nsv1131812 CNV deletion 24896259
nsv1131811 CNV deletion 24896259
nsv1125817 CNV tandem duplication 24896259
nsv1120486 CNV tandem duplication 24896259
nsv1074729 CNV deletion 25765185
nsv1073776 CNV deletion 25765185
nsv1010714 CNV gain 25217958
nsv1009633 CNV gain 25217958
nsv1006026 CNV loss 25217958
esv990445 CNV deletion 20482838
esv8840 CNV loss 19470904
esv8548 CNV gain 19470904
esv4751 CNV loss 18987735
esv3893964 CNV loss 25118596
esv3601107 CNV loss 21293372
esv3601101 CNV loss 21293372
esv3601099 CNV loss 21293372
esv3601097 CNV gain 21293372
esv3601096 CNV loss 21293372
esv3601094 CNV gain 21293372
esv3601093 CNV loss 21293372
esv3601092 CNV loss 21293372
esv3601091 CNV loss 21293372
esv3601089 CNV loss 21293372
esv3601088 CNV loss 21293372
esv3601087 CNV gain 21293372
esv3564119 CNV deletion 23714750
esv3444601 CNV insertion 20981092
esv3444056 CNV insertion 20981092
esv3443485 CNV duplication 20981092
esv3345270 CNV insertion 20981092
esv3331381 CNV insertion 20981092
esv3323197 CNV insertion 20981092
esv3321859 CNV insertion 20981092
esv3310280 CNV mobile element insertion 20981092
esv3309187 CNV mobile element insertion 20981092
esv3309054 CNV mobile element insertion 20981092
esv3307499 CNV mobile element insertion 20981092
esv3306571 CNV mobile element insertion 20981092
esv3303746 CNV mobile element insertion 20981092
esv3302759 CNV tandem duplication 20981092
esv3300606 CNV deletion 24192839
esv28163 CNV loss 19812545
esv2763369 CNV loss 21179565
esv27534 CNV loss 19812545
esv275267 CNV gain+loss 21479260
esv2727858 CNV deletion 23290073
esv2727857 CNV deletion 23290073
esv2727856 CNV deletion 23290073
esv27121 CNV loss 19812545
esv2672233 CNV deletion 23128226
esv2668338 CNV deletion 23128226
esv2666107 CNV deletion 23128226
esv2661198 CNV deletion 23128226
esv26493 CNV loss 19812545
esv2516235 CNV insertion 19546169
esv24539 CNV loss 19812545
esv2446951 CNV deletion 19546169
esv2240939 CNV deletion 18987734
esv2116983 CNV deletion 18987734
esv1262316 CNV insertion 17803354
dgv95n16 CNV deletion 17901297
dgv9137n54 CNV gain 21841781
dgv2831n106 CNV deletion 24896259
dgv1503e212 CNV loss 25503493
dgv147n73 CNV deletion 24416366
nsv999844 CNV gain 25217958
nsv966288 CNV duplication 23825009
nsv829978 CNV gain 17160897
nsv829977 CNV loss 17160897
nsv822626 CNV loss 20364138
nsv822625 CNV loss 20364138
nsv819290 CNV loss 19587683
nsv818246 CNV gain 17921354
nsv7363 OTHER inversion 18451855
nsv525530 CNV gain 19592680
nsv524023 CNV loss 19592680
nsv520625 CNV gain 19592680

Variation tolerance for FRAS1 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.04; 98.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FRAS1 Gene

Human Gene Mutation Database (HGMD)
FRAS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRAS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRAS1 Gene

Disorders for FRAS1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for FRAS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fraser syndrome
  • cryptophthalmos syndrome
renal agenesis, unilateral
fras1-related fraser syndrome
cryptophthalmos
microphthalmia, syndromic 9
  • microphthalmia, isolated, with coloboma 8
- elite association - COSMIC cancer census association via MalaCards
Search FRAS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FRAS1_HUMAN
  • Fraser syndrome (FRASS) [MIM:219000]: Multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects. {ECO:0000269 PubMed:23473829}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FRAS1

Genetic Association Database (GAD)
FRAS1
Human Genome Epidemiology (HuGE) Navigator
FRAS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FRAS1
genes like me logo Genes that share disorders with FRAS1: view

No data available for Genatlas for FRAS1 Gene

Publications for FRAS1 Gene

  1. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. (PMID: 12766769) McGregor L.K. … Scambler P.J. (Nat. Genet. 2003) 2 3 4 22 64
  2. Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. (PMID: 23473829) Hoefele J. … Rost I. (Gene 2013) 3 4 64
  3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64
  4. Common variants in the trichohyalin gene are associated with straight hair in Europeans. (PMID: 19896111) Medland S.E. … Martin N.G. (Am. J. Hum. Genet. 2009) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for FRAS1 Gene

Sources for FRAS1 Gene

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