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Aliases for FRAS1 Gene

Aliases for FRAS1 Gene

  • Fraser Extracellular Matrix Complex Subunit 1 2 3
  • 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 fras1-related fraser syndrome. Among its related pathways are ERK Signaling and ERK Signaling. An important paralog of this gene is FREM3.

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

Genomic Location for FRAS1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for FRAS1 Gene at MOPED

Post-translational modifications for FRAS1 Gene

  • Glycosylation at Asn361, Asn728, Asn1093, Asn1108, Asn1504, Asn1777, Asn1948, Asn1978, Thr2331, Asn2563, Asn2664, Asn2682, Asn2908, Asn2985, Asn3070, Asn3218, Asn3676, and Asn3875
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FRAS1 Gene

Domains for FRAS1 Gene

Suggested Antigen Peptide Sequences for FRAS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86XX4

UniProtKB/Swiss-Prot:

FRAS1_HUMAN :
  • Q86XX4
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:0005509 calcium ion binding --
GO:0005515 protein binding --
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

miRNA for FRAS1 Gene

miRTarBase miRNAs that target FRAS1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for FRAS1 Gene COMPARTMENTS Subcellular localization image for FRAS1 gene
Compartment Confidence
plasma membrane 5
extracellular 2

Gene Ontology (GO) - Cellular Components for FRAS1 Gene

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

Pathways 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

Selected Interacting proteins: Q86XX4-FRAS1_HUMAN for FRAS1 Gene via MINT I2D

Symbol External ID(s) Details
GRIP1
--

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

Compounds for FRAS1 Gene

(1) HMDB Compounds for FRAS1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
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:

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 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 (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for FRAS1 Gene

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 expressions with FRAS1: view

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 35
  • 99.3 (n)
  • 99.05 (a)
FRAS1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FRAS1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRAS1 35
  • 88.97 (n)
  • 89.23 (a)
FRAS1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fras1 35
  • 84.5 (n)
  • 85.05 (a)
Fras1 16
Fras1 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FRAS1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRAS1 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fras1 35
  • 84.43 (n)
  • 84.77 (a)
chicken
(Gallus gallus)
Aves FRAS1 35
  • 71.28 (n)
  • 70.06 (a)
FRAS1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FRAS1 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fras1 35
  • 67.75 (n)
  • 66.93 (a)
zebrafish
(Danio rerio)
Actinopterygii fras1 35
  • 64.55 (n)
  • 62.57 (a)
fras1 36
  • 62 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for FRAS1:
  • 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

Pseudogenes.org Pseudogenes 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 MAF
rs4156 -- 78,159,402(-) ATATT(A/G)TTCTC intron-variant
rs17327 -- 78,162,227(+) CCTAT(A/G)CCTGA intron-variant
rs22078 -- 78,361,378(+) TTTGG(C/G)TCTCA intron-variant
rs120233 -- 78,361,194(+) CCTTC(A/G)CACAG intron-variant
rs143371 -- 78,336,556(+) ATAGG(C/T)GCTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7363 OTHER Inversion 18451855
nsv516836 CNV Gain 19592680
nsv4396 CNV Loss 18451855
nsv520625 CNV Gain 19592680
nsv525530 CNV Gain 19592680
esv2240939 CNV Deletion 18987734
esv2727856 CNV Deletion 23290073
nsv879502 CNV Loss 21882294
nsv829977 CNV Loss 17160897
esv2661198 CNV Deletion 23128226
nsv879503 CNV Loss 21882294
esv2666107 CNV Deletion 23128226
nsv829978 CNV Gain 17160897
esv273327 CNV Insertion 20981092
esv271773 CNV Insertion 20981092
nsv291328 CNV Insertion 16902084
esv1262316 CNV Insertion 17803354
nsv818246 CNV Gain 17921354
esv8548 CNV Gain 19470904
esv26493 CNV Loss 19812545
esv274552 CNV Insertion 20981092
esv268611 CNV Insertion 20981092
nsv4399 CNV Loss 18451855
esv2672233 CNV Deletion 23128226
nsv524023 CNV Loss 19592680
esv28163 CNV Loss 19812545
nsv508290 CNV Loss 20534489
esv2727857 CNV Deletion 23290073
nsv292160 CNV Loss 16902084
nsv819290 CNV Loss 19587683
dgv95n16 CNV Deletion 17901297
esv990445 CNV Deletion 20482838
esv2446951 CNV Deletion 19546169
nsv513140 CNV Loss 21212237
esv2116983 CNV Deletion 18987734
esv2727858 CNV Deletion 23290073
esv4751 CNV Deletion 18987735
nsv499049 CNV Loss 21111241
esv8840 CNV Loss 19470904
esv2516235 CNV Insertion 19546169
esv270124 CNV Insertion 20981092
esv274682 CNV Insertion 20981092
esv2668338 CNV Deletion 23128226
esv27121 CNV Loss 19812545
esv268025 CNV Insertion 20981092
esv273460 CNV Insertion 20981092
esv259733 OTHER Complex 20981092
esv274248 CNV Insertion 20981092
esv270686 CNV Insertion 20981092
nsv290709 CNV Loss 16902084
nsv4400 CNV Insertion 18451855
esv270847 CNV Insertion 20981092
esv24539 CNV Loss 19812545
esv275267 CNV Gain+Loss 21479260
nsv822625 CNV Loss 20364138
nsv822626 CNV Loss 20364138
esv27534 CNV Loss 19812545

Relevant External Links for FRAS1 Gene

HapMap Linkage Disequilibrium report
FRAS1
Human Gene Mutation Database (HGMD)
FRAS1

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

Disorders for FRAS1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for FRAS1 Gene including...

Search for FRAS1 Gene in MalaCards »

(1) OMIM Diseases for FRAS1 Gene (607830)

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.

(2) University of Copenhagen DISEASES for FRAS1 Gene

Relevant External Links for FRAS1

Genetic Association Database (GAD)
FRAS1
Human Genome Epidemiology (HuGE) Navigator
FRAS1
genes like me logo Genes that share disorders with FRAS1: view

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 23
  2. The clinical spectrum of the Fraser syndrome: report of three new cases and review. (PMID: 3118036) Gattuso J. … Baraitser M. (J. Med. Genet. 1987) 2 3
  3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for FRAS1 Gene

Sources for FRAS1 Gene

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