Cell atlas - VSX1 - The Human Protein Atlas

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VSX1

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Cell line enriched (Karpas-707)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (Karpas-707) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
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 83.38)
Entrez gene	30813
UniProt	Q9NZR4 (UniProt - Evidence at protein level)
neXtProt	NX_Q9NZR4
Antibodypedia	VSX1 antibodies

PROTEIN BROWSER

VSX1-001	VSX1-002	VSX1-003	VSX1-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
VSX1-001 ENSP00000365899 ENST00000376709	Q9NZR4 [Direct mapping] Visual system homeobox 1 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005575 [cellular_component] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0007601 [visual perception] GO:0042551 [neuron maturation] GO:0043565 [sequence-specific DNA binding] GO:0048666 [neuron development] GO:0050896 [response to stimulus] GO:0060040 [retinal bipolar neuron differentiation] Show all	365 aa 38.4 kDa	No	0
VSX1-002 ENSP00000365897 ENST00000376707	Q9NZR4 [Direct mapping] Visual system homeobox 1 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005575 [cellular_component] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0043565 [sequence-specific DNA binding] GO:0050896 [response to stimulus] Show all	239 aa 25 kDa	No	0
VSX1-003 ENSP00000401690 ENST00000429762	Q9NZR4 [Direct mapping] Visual system homeobox 1 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005575 [cellular_component] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0043565 [sequence-specific DNA binding] GO:0050896 [response to stimulus] Show all	301 aa 32.1 kDa	No	0
VSX1-004 ENSP00000387720 ENST00000444511	Q9NZR4 [Direct mapping] Visual system homeobox 1 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005575 [cellular_component] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0043565 [sequence-specific DNA binding] GO:0050896 [response to stimulus] Show all	236 aa 24.9 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.