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FRAS1 Fraser extracellular matrix complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 80144, updated on 26-May-2016
Official Symbol
FRAS1provided by HGNC
Official Full Name
Fraser extracellular matrix complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:19185
See related
Ensembl:ENSG00000138759 HPRD:06382; MIM:607830; Vega:OTTHUMG00000160856
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Orthologs
Location:
4q21.21
Exon count:
74
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (78056968..78544269)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (78978724..79465423)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene high mobility group box 1 pseudogene 44 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 56 Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 5 Neighboring gene mitochondrial inner membrane organizing system 1 pseudogene 4 Neighboring gene annexin A3 Neighboring gene long intergenic non-protein coding RNA 1094 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 13

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cryptophthalmos syndrome
MedGen: C0265233 OMIM: 219000 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
NHGRI GWA Catalog
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ14927, FLJ22031, KIAA1500, DKFZp686I05113, DKFZp686P08111

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell communication IEA
Inferred from Electronic Annotation
more info
 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
metanephros morphogenesis IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelium IEA
Inferred from Electronic Annotation
more info
 
palate development IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
skin development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
sublamina densa ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
extracellular matrix protein FRAS1
Names
Fraser syndrome 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015812.1 RefSeqGene

    Range
    5001..491700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166133.1NP_001159605.1  extracellular matrix protein FRAS1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001159605.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the presence and absence of exons in its 3' coding region and 3' UTR, compared to variant 1, resulting in an isoform (2) with a distinct and significantly shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AC093886, AK025684, BC131820, DA725113, DA881824
    Consensus CDS
    CCDS54772.1
    UniProtKB/Swiss-Prot
    Q86XX4
    Related
    ENSP00000326330, OTTHUMP00000219178, ENST00000325942, OTTHUMT00000362706
    Conserved Domains (6) summary
    smart00214
    Location:367416
    VWC; von Willebrand factor (vWF) type C domain
    smart00261
    Location:462504
    FU; Furin-like repeats
    cd00064
    Location:608653
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00093
    Location:95152
    VWC; von Willebrand factor type C domain
    pfam14843
    Location:512623
    GF_recep_IV; Growth factor receptor domain IV
    cl17735
    Location:159216
    VWC; von Willebrand factor type C domain
  2. NM_025074.6NP_079350.5  extracellular matrix protein FRAS1 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB040933, AC093886, AC104808, BC131820, BX647420, BX647949, DA725113, DA881824
    Consensus CDS
    CCDS54771.1
    UniProtKB/Swiss-Prot
    Q86XX4
    Related
    ENSP00000422834, OTTHUMP00000219233, ENST00000512123, OTTHUMT00000362862
    Conserved Domains (8) summary
    smart00237
    Location:25552650
    Calx_beta; Domains in Na-Ca exchangers and integrin-beta4
    smart00214
    Location:367416
    VWC; von Willebrand factor (vWF) type C domain
    smart00261
    Location:10461087
    FU; Furin-like repeats
    cd00064
    Location:608653
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00093
    Location:95152
    VWC; von Willebrand factor type C domain
    pfam00757
    Location:462624
    Furin-like; Furin-like cysteine rich region
    pfam14843
    Location:655777
    GF_recep_IV; Growth factor receptor domain IV
    cl02522
    Location:27982894
    Calx-beta; Calx-beta domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    78056968..78544269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714316.1XP_006714379.1  

    Conserved Domains (8) summary
    smart00237
    Location:24792574
    Calx_beta; Domains in Na-Ca exchangers and integrin-beta4
    smart00214
    Location:367416
    VWC; von Willebrand factor (vWF) type C domain
    smart00261
    Location:10461087
    FU; Furin-like repeats
    cd00064
    Location:608653
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00093
    Location:95152
    VWC; von Willebrand factor type C domain
    pfam00757
    Location:462624
    Furin-like; Furin-like cysteine rich region
    pfam14843
    Location:655777
    GF_recep_IV; Growth factor receptor domain IV
    cl02522
    Location:27222818
    Calx-beta; Calx-beta domain
  2. XM_006714314.1XP_006714377.1  

    Conserved Domains (8) summary
    smart00237
    Location:25532648
    Calx_beta; Domains in Na-Ca exchangers and integrin-beta4
    smart00214
    Location:367416
    VWC; von Willebrand factor (vWF) type C domain
    smart00261
    Location:10461087
    FU; Furin-like repeats
    cd00064
    Location:608653
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00093
    Location:95152
    VWC; von Willebrand factor type C domain
    pfam00757
    Location:462624
    Furin-like; Furin-like cysteine rich region
    pfam14843
    Location:655777
    GF_recep_IV; Growth factor receptor domain IV
    cl02522
    Location:27962892
    Calx-beta; Calx-beta domain
  3. XM_011532270.1XP_011530572.1  

    Conserved Domains (4) summary
    cd00064
    Location:92140
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:93289
    Furin-like; Furin-like cysteine rich region
    cl02522
    Location:17881883
    Calx-beta; Calx-beta domain
    cd00185
    Location:123192
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  4. XM_011532271.1XP_011530573.1  

    Conserved Domains (1) summary
    cl02522
    Location:851946
    Calx-beta; Calx-beta domain

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    78955468..79441921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_020875.1: Suppressed sequence

    Description
    NM_020875.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_032863.2: Suppressed sequence

    Description
    NM_032863.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_206841.1: Suppressed sequence

    Description
    NM_206841.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.