CRX (gene)

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.[5][6][7]

CRX
Identifiers
Aliases	CRX, CORD2, CRD, LCA7, OTX3, cone-rod homeobox
External IDs	OMIM: 602225 MGI: 1194883 HomoloGene: 467 GeneCards: CRX
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.33 Start 47,819,779 bp[1] End 47,843,330 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A2|7 8.6 cM Start 15,865,947 bp[2] End 15,879,968 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • DNA binding • leucine zipper domain binding • GO:0001948 protein binding • nuclear hormone receptor binding • sequence-specific DNA binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell nucleus Biological process • circadian rhythm • nervous system development • animal organ morphogenesis • positive regulation of transcription from RNA polymerase II promoter • response to stimulus • positive regulation of photoreceptor cell differentiation • transcription, DNA-templated • multicellular organism development • cell differentiation • regulation of transcription, DNA-templated • visual perception • transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	1406	12951
Ensembl	ENSG00000105392	ENSMUSG00000041578
UniProt	O43186	O54751
RefSeq (mRNA)	NM_000554	NM_001113330 NM_007770
RefSeq (protein)	NP_000545	NP_001106801 NP_031796
Location (UCSC)	Chr 19: 47.82 – 47.84 Mb	Chr 7: 15.87 – 15.88 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber's congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000105392 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041578 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR (Nov 1997). "Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor". Cell. 91 (4): 543–53. doi:10.1016/S0092-8674(00)80440-7. PMID 9390563.
6. Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone EM (Apr 1998). "De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis". Nature Genetics. 18 (4): 311–2. doi:10.1038/ng0498-311. PMID 9537410.
7. "Entrez Gene: CRX cone-rod homeobox".

Further reading

• Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B (Jul 2007). "Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame". Ophthalmology. 114 (7): 1348–1357.e1. doi:10.1016/j.ophtha.2006.10.034. PMID 17320181.
• Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, Butler R, Ebenezer N, Hunt DM, Bhattacharya S (Feb 1994). "Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion". Nature Genetics. 6 (2): 210–3. doi:10.1038/ng0294-210. PMID 8162077.
• Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ (Nov 1997). "Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes". Neuron. 19 (5): 1017–30. doi:10.1016/S0896-6273(00)80394-3. PMID 9390516.
• Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ (Dec 1997). "Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration". Neuron. 19 (6): 1329–36. doi:10.1016/S0896-6273(00)80423-7. PMID 9427255.
• Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP (Nov 1998). "A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene". American Journal of Human Genetics. 63 (5): 1307–15. doi:10.1086/302101. PMC 1377541. PMID 9792858.
• Swaroop A, Wang QL, Wu W, Cook J, Coats C, Xu S, Chen S, Zack DJ, Sieving PA (Feb 1999). "Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function". Human Molecular Genetics. 8 (2): 299–305. doi:10.1093/hmg/8.2.299. PMID 9931337.
• Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, Bird AC, Zack DJ, Swaroop A, Bhattacharya SS (Apr 1999). "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa". Nature Genetics. 21 (4): 355–6. doi:10.1038/7678. PMID 10192380.
• Yanagi Y, Masuhiro Y, Mori M, Yanagisawa J, Kato S (Mar 2000). "p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor". Biochemical and Biophysical Research Communications. 269 (2): 410–4. doi:10.1006/bbrc.2000.2304. PMID 10708567.
• Zhu X, Craft CM (Jul 2000). "Modulation of CRX transactivation activity by phosducin isoforms". Molecular and Cellular Biology. 20 (14): 5216–26. doi:10.1128/MCB.20.14.5216-5226.2000. PMC 85970. PMID 10866677.
• Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A (Sep 2000). "The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation". The Journal of Biological Chemistry. 275 (38): 29794–9. doi:10.1074/jbc.M003658200. PMID 10887186.
• Bibb LC, Holt JK, Tarttelin EE, Hodges MD, Gregory-Evans K, Rutherford A, Lucas RJ, Sowden JC, Gregory-Evans CY (Jul 2001). "Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development". Human Molecular Genetics. 10 (15): 1571–9. doi:10.1093/hmg/10.15.1571. PMID 11468275.
• La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptácek LJ, Chen S (Sep 2001). "Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7". Neuron. 31 (6): 913–27. doi:10.1016/S0896-6273(01)00422-6. PMID 11580893.
• Rivolta C, Peck NE, Fulton AB, Fishman GA, Berson EL, Dryja TP (Dec 2001). "Novel frameshift mutations in CRX associated with Leber congenital amaurosis". Human Mutation. 18 (6): 550–1. doi:10.1002/humu.1243. PMID 11748859.
• Koenekoop RK, Loyer M, Dembinska O, Beneish R (Mar 2002). "Visual improvement in Leber congenital amaurosis and the CRX genotype". Ophthalmic Genetics. 23 (1): 49–59. doi:10.1076/opge.23.1.49.2200. PMID 11910559.
• Chen S, Wang QL, Xu S, Liu I, Li LY, Wang Y, Zack DJ (Apr 2002). "Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy". Human Molecular Genetics. 11 (8): 873–84. doi:10.1093/hmg/11.8.873. PMID 11971869.
• Nakamura M, Ito S, Miyake Y (Sep 2002). "Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis". American Journal of Ophthalmology. 134 (3): 465–7. doi:10.1016/S0002-9394(02)01542-8. PMID 12208271.
• Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM (Oct 2002). "Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation". Ophthalmology. 109 (10): 1862–70. doi:10.1016/S0161-6420(02)01187-9. PMID 12359607.
• Hodges MD, Vieira H, Gregory-Evans K, Gregory-Evans CY (Nov 2002). "Characterization of the genomic and transcriptional structure of the CRX gene: substantial differences between human and mouse". Genomics. 80 (5): 531–42. doi:10.1016/S0888-7543(02)96854-0. PMID 12408971.

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
• CRX+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Human CRX genome location and CRX gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.