Gene: VSX1 (visual system homeobox 1)
Homo sapiens
Symbol:
VSX1
Name:
visual system homeobox 1
Description:
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]
Type:
protein-coding
RefSeq Status:
REVIEWED
Also known as:
CAASDS; homeodomain protein RINX; KTCN; KTCN1; OTTHUMP00000030468; OTTHUMP00000205188; OTTHUMP00000205189; OTTHUMP00000205190; OTTHUMP00000205191; OTTHUMP00000205192; PPCD; PPD; retinal inner nuclear layer homeobox protein; RINX; transcription factor VSX1; visual system homeobox 1; visual system homeobox 1 homolog, CHX10-like
Orthologs:
Mus musculus : Vsx1
(visual system homeobox 1 homolog (zebrafish))
MGI
Vsx1
(visual system homeobox 1)
Latest Assembly:
Human Genome Assembly GRCh37
Position:
Map Chr Position Strand Source Human Alternate Assembly CHM1_1 20 25,002,144 - 25,013,632 - NCBI Human Genome Assembly HuRef 20 25,008,800 - 25,020,295 - NCBI Human Genome Assembly GRCh37 20 25,051,521 - 25,063,015 - NCBI Human Genome Assembly Build 36 20 25,004,099 - 25,010,767 - NCBI Human Cytogenetic Map 20 p11.21 NCBI Human Genome Assembly 20 25,007,194 - 25,010,767 NCBI
Model
Disease Annotations
Gene-Chemical Interaction Annotations
copper(2+) sulfate decreases expression EXP 6480464 Copper Sulfate results in decreased expression of VSX1 mRNA CTD PMID:19549813 hydrogen peroxide multiple interactions EXP 6480464 [Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of VSX1 protein CTD PMID:18951874 paracetamol decreases expression EXP 6480464 Acetaminophen results in decreased expression of VSX1 mRNA CTD PMID:22230336 theophylline multiple interactions EXP 6480464 [Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of VSX1 protein CTD PMID:18951874
Biological Process neuron maturation IEA Ensembl:ENSMUSP00000039088 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to stimulus IEA UniProtKB-KW:KW-0716 2290271 GO_REF:0000037 UniProtKB GO_REF:0000037 retinal bipolar neuron differentiation IEA Ensembl:ENSMUSP00000039088 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 transcription, DNA-dependent IEA UniProtKB-KW:KW-0804 2290271 GO_REF:0000037 UniProtKB GO_REF:0000037 visual perception IEA Ensembl:ENSMUSP00000039088 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 Cellular Component cellular_component ND 2290271 GO_REF:0000015 UniProtKB GO_REF:0000015 nucleus IEA UniProtKB-SubCell:SL-0191 2290271 GO_REF:0000039 UniProtKB GO_REF:0000039 Molecular Function sequence-specific DNA binding IEA InterPro:IPR001356|InterPro:IPR017970 2290271 GO_REF:0000002 InterPro GO_REF:0000002 sequence-specific DNA binding transcription factor activity IEA InterPro:IPR001356 2290271 GO_REF:0000002 InterPro GO_REF:0000002
1643060 BW123_H Body Weight QTL 123 (human) 2.46 .00038 Body weight 20 1 25584381 Human 1558710 SCL10_H Serum cholesterol level QTL 10 (human) 1 Lipid level HDL cholesterol 20 17372490 31825948 Human 1559223 SCL65_H Serum cholesterol level QTL 65 (human) 2.1 Lipid level triglyceride 20 17577930 43577930 Human 1578598 SCL126_H Serum cholesterol level QTL 126 (human) 1.7 Lipid level triglyceride-HDL ratio 20 559258 49561921 Human 2289522 BW437_H Body weight QTL 437 (human) 1.5 Body weight BMI 20 24635134 43649171 Human 1643050 BW164_H Body weight QTL 164 (human) .0056 Body weight BMI 20 17966006 43966006 Human 1643045 BW169_H Body weight QTL 169 (human) .0256 Body fat amount percent body fat 20 6831702 32831702 Human 1643057 BW170_H Body weight QTL 170 (human) .0215 Body weight BMI 20 17966006 43966006 Human 2289526 BW438_H Body weight QTL 438 (human) 2.2 Body weight BMI 20 19831543 34698620 Human 2289553 BP95_H Blood pressure QTL 95 (human) Blood pressure systolic 20 1 25584381 Human 1643385 BW311_H Body weight QTL 311 (human) 3.31 .0001 Body fat amount 20 11232283 37232283 Human 1643383 BW312_H Body weight QTL 312 (human) 2.92 .0004 Body fat amount percent fat 20 11232283 37232283 Human 2292889 PRSTS35_H Prostate tumor susceptibility QTL 35 (human) Prostate tumor susceptibility 20 24232155 50232155 Human 2314820 GLUCO124_H Glucose level QTL 124 (human) 2.27 .0002 Glucose level fasting 20 22412084 43768518 Human 2301807 PRSTS433_H Prostate tumor susceptibility QTL 433 (human) .11 Prostate tumor susceptibility 20 18825818 44825818 Human 2314748 GLUCO93_H Glucose level QTL 93 (human) .59 .015 Glucose level non-insulin dependent 20 2276302 28276302 Human 2316342 GLUCO236_H Glucose level QTL 236 (human) Glucose level 20 18825818 44825818 Human 2316872 GLUCO305_H Glucose level QTL 305 (human) 1.742 .0073 Glucose level 20 4029415 30029415 Human
Gene-Chemical Interaction Annotations
