VSX1

GENERAL INFORMATION

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Gene name

VSX1

Gene description

Visual system homeobox 1

Protein class

Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (adrenal gland, ovary)
GTEx:Group enriched (cerebellum)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (adrenal gland, ovary)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum)

Organ

Expression



GENE INFORMATION

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Gene name

VSX1 (HGNC Symbol)

Synonyms

PPCD, PPCD1, PPD

Description

Visual system homeobox 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Chromosome

20

Cytoband

p11.21

Chromosome location (bp)

25070885 - 25082365

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100987 (version 78.38)

Entrez gene

30813

UniProt

Q9NZR4 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NZR4

Antibodypedia

VSX1 antibodies


PROTEIN BROWSER

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ENST00000376707
 
ENST00000376709
 
ENST00000429762
 
ENST00000444511
 
 
 
 


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)

VSX1-001 ENSP00000365899
ENST00000376709
Q9NZR4
Show all »
Show » Show » 365 38.4 No 0
VSX1-002 ENSP00000365897
ENST00000376707
Q9NZR4
Show all »
Show » Show » 239 25 No 0
VSX1-003 ENSP00000401690
ENST00000429762
Q9NZR4
Show all »
Show » Show » 301 32.1 No 0
VSX1-004 ENSP00000387720
ENST00000444511
Q9NZR4
Show all »
Show » Show » 236 24.9 No 0