FRAS1

GENE INFORMATION

? »

Gene name

FRAS1 (HGNC Symbol)

Synonyms

FLJ14927, FLJ22031, KIAA1500

Description

Fraser syndrome 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

4

Cytoband

q21.21

Chromosome location (bp)

78978724 - 79465423

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000138759 (version 75.37)

Entrez gene

80144

UniProt

Q86XX4 (UniProt - Evidence at protein level)

neXtProt

NX_Q86XX4

Antibodypedia

FRAS1 antibodies
 

PROTEIN VIEW

? »
 
 
 
FRAS1-001
 
FRAS1-003
 
FRAS1-004
 
FRAS1-005
 
FRAS1-007
 
FRAS1-008
 
FRAS1-201
 
FRAS1-202
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FRAS1-001 ENSP00000326330
ENST00000325942
Q86XX4
Show all »
Show » Show » 1976 216.6 Yes 0
FRAS1-003 ENSP00000425583
ENST00000508909
D6RCP6
Show all »
Show » 39 4.1 Yes 0
FRAS1-004 ENSP00000423645
ENST00000502446
Show » Show » 666 71.4 No 0
FRAS1-005 ENSP00000423809
ENST00000508900
Show » Show » 652 70.3 No 0
FRAS1-007 ENSP00000422221
ENST00000510944
Show » 426 47.2 No 0
FRAS1-008 ENSP00000422834
ENST00000512123
Q69YV4
Show all »
Show » Show » 2241 250 No 1
FRAS1-201 ENSP00000264895
ENST00000264895
Q86XX4
Show all »
Show » Show » 4012 443.6 Yes 1
FRAS1-202 ENSP00000264899
ENST00000264899
Q86XX4
Show all »
Show » Show » 737 79.2 Yes 0