FRAS1

GENERAL INFORMATION

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Gene name

FRAS1

Gene description

Fraser extracellular matrix complex subunit 1

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Intracellular,Membrane,Secreted

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (thyroid gland)
GTEx:Tissue enhanced (thyroid gland)

Protein evidence

Evidence at protein level

Protein localization

General membranous and cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA051601
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Thyroid gland

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (thyroid gland)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (thyroid gland)

Organ

Expression



GENE INFORMATION

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Gene name

FRAS1 (HGNC Symbol)

Synonyms

FLJ14927, FLJ22031, KIAA1500

Description

Fraser extracellular matrix complex subunit 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)

78057570 - 78544269

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000138759 (version 78.38)

Entrez gene

80144

UniProt

Q86XX4 (UniProt - Evidence at protein level)

neXtProt

NX_Q86XX4

Antibodypedia

FRAS1 antibodies


PROTEIN BROWSER

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ENST00000264899
 
ENST00000325942
 
ENST00000502446
 
ENST00000508900
 
ENST00000510944
 
ENST00000512123
 
 
 
 


PROTEIN INFORMATION

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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
FRAS1-004 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 ENSP00000264899
ENST00000264899
Show » Show » 317 34.4 Yes 0