Summary: Ocular albinism type 1 protein
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This is the Wikipedia entry entitled "GPR143". More...
GPR143 Edit Wikipedia article
| Ocular albinism type 1 protein | |||||||||
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| Identifiers | |||||||||
| Symbol | Ocular_alb | ||||||||
| Pfam | PF02101 | ||||||||
| Pfam clan | CL0192 | ||||||||
| InterPro | IPR001414 | ||||||||
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G-protein coupled receptor 143 is a protein encoded by the GPR143 gene in humans.[1][2][3]
Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes.[3]
The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.[4][5]
L-DOPA is an endogenous ligand for OA1.[6]
Contents |
[edit] Interactions
GPR143 has been shown to interact with GNAI1.[2]
[edit] References
- ^ Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A (Sep 1995). "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome". Nat Genet 10 (1): 13â9. doi:10.1038/ng0595-13. PMID 7647783.
- ^ a b Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A (Sep 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nat Genet 23 (1): 108â12. doi:10.1038/12715. PMID 10471510.
- ^ a b "Entrez Gene: GPR143 G protein-coupled receptor 143". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4935.
- ^ Vetrini F, Auricchio A, Du J, et al. (2004). "The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis". Mol. Cell. Biol. 24 (15): 6550â9. doi:10.1128/MCB.24.15.6550-6559.2004. PMC 444869. PMID 15254223. //www.ncbi.nlm.nih.gov/pmc/articles/PMC444869/.
- ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665â76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ^ Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh, Gregory S.. ed. "L-DOPA is an endogenous ligand for OA1". PLoS Biol. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2553842/.
[edit] Further reading
- Oetting WS, King RA (1999). "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.". Hum. Mutat. 13 (2): 99â115. doi:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C. PMID 10094567.
- Oetting WS (2002). "New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.". Hum. Mutat. 19 (2): 85â92. doi:10.1002/humu.10034. PMID 11793467.
- Schnur RE, Trask BJ, van den Engh G, et al. (1989). "An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.". Am. J. Hum. Genet. 45 (5): 706â20. PMC 1683435. PMID 2573275. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1683435/.
- Meindl A, Hosenfeld D, Brückl W, et al. (1993). "Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.". J. Med. Genet. 30 (10): 838â42. doi:10.1136/jmg.30.10.838. PMC 1016566. PMID 8230160. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1016566/.
- Schiaffino MV, Bassi MT, Galli L, et al. (1996). "Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.". Hum. Mol. Genet. 4 (12): 2319â25. doi:10.1093/hmg/4.12.2319. PMID 8634705.
- Schnur RE, Gao M, Wick PA, et al. (1998). "OA1 mutations and deletions in X-linked ocular albinism.". Am. J. Hum. Genet. 62 (4): 800â9. doi:10.1086/301776. PMC 1377018. PMID 9529334. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1377018/.
- Rosenberg T, Schwartz M (1999). "X-linked ocular albinism: prevalence and mutations--a national study.". Eur. J. Hum. Genet. 6 (6): 570â7. doi:10.1038/sj.ejhg.5200226. PMID 9887374.
- d'Addio M, Pizzigoni A, Bassi MT, et al. (2001). "Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.". Hum. Mol. Genet. 9 (20): 3011â8. doi:10.1093/hmg/9.20.3011. PMID 11115845.
- Bassi MT, Bergen AA, Bitoun P, et al. (2001). "Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.". Hum. Genet. 108 (1): 51â4. doi:10.1007/s004390000440. PMID 11214907.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899â903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. //www.ncbi.nlm.nih.gov/pmc/articles/PMC139241/.
- Touloukian CE, Leitner WW, Schnur RE, et al. (2003). "Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1.". J. Immunol. 170 (3): 1579â85. PMC 2241741. PMID 12538723. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2241741/.
- Basrur V, Yang F, Kushimoto T, et al. (2003). "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.". J. Proteome Res. 2 (1): 69â79. doi:10.1021/pr025562r. PMID 12643545.
- Camand O, Boutboul S, Arbogast L, et al. (2003). "Mutational analysis of the OA1 gene in ocular albinism.". Ophthalmic Genet. 24 (3): 167â73. doi:10.1076/opge.24.3.167.15605. PMID 12868035.
- Mayeur H, Roche O, Vêtu C, et al. (2006). "Eight previously unidentified mutations found in the OA1 ocular albinism gene.". BMC Med. Genet. 7: 41. doi:10.1186/1471-2350-7-41. PMC 1468396. PMID 16646960. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1468396/.
- Sallmann GB, Bray PJ, Rogers S, et al. (2006). "Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC.". Ophthalmic Genet. 27 (2): 43â9. doi:10.1080/13816810600677834. PMID 16754205.
- Chi A, Valencia JC, Hu ZZ, et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.". J. Proteome Res. 5 (11): 3135â44. doi:10.1021/pr060363j. PMID 17081065.
[edit] External links
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Ocular albinism type 1 protein Provide feedback
No Pfam abstract.
External database links
| PANDIT: | PF02101 |
| PRINTS: | PR00965 |
| Pseudofam: | PF02101 |
| SYSTERS: | Ocular_alb |
This tab holds annotation information from the InterPro database.
InterPro entry IPR001414
Ocular albinism type 1 (OA1) is an X-linked disorder characterised by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. A novel transcript from the OA1 critical region is expressed in high levels in RNA samples from retina and from melanoma and encodes a potential integral membrane protein [PUBMED:7647783]. This protein is of unknown function but is known to bind heterotrimeric G proteins.Gene Ontology
The mapping between Pfam and Gene Ontology is provided by InterPro. If you use this data please cite InterPro.
| Cellular component | membrane (GO:0016020) |
Domain organisation
Below is a listing of the unique domain organisations or architectures in which this domain is found. More...
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Pfam Clan
This family is a member of clan GPCR_A (CL0192), which contains the following 35 members:
7TM-7TMR_HD 7tm_1 7tm_2 7tm_4 7TM_GPCR_Sra 7TM_GPCR_Srab 7TM_GPCR_Srb 7TM_GPCR_Srbc 7TM_GPCR_Srd 7TM_GPCR_Srh 7TM_GPCR_Sri 7TM_GPCR_Srj 7TM_GPCR_Srsx 7TM_GPCR_Srt 7TM_GPCR_Sru 7TM_GPCR_Srv 7TM_GPCR_Srw 7TM_GPCR_Srx 7TM_GPCR_Srz 7TM_GPCR_Str Bac_rhodopsin Dicty_CAR DUF1182 DUF621 Frizzled Git3 Git3_C GpcrRhopsn4 Lung_7-TM_R Ocular_alb Serpentine_r_xa Sre Srg TAS2R V1RAlignments
We store a range of different sequence alignments for families. As well as the seed alignment from which the family is built, we provide the full alignment, generated by searching the sequence database using the family HMM. We also generate alignments using four representative proteomes (RP) sets, the NCBI sequence database, and our metagenomics sequence database. More...
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We make a range of alignments for each Pfam-A family. You can see a description of each above. You can view these alignments in various ways but please note that some types of alignment are never generated while others may not be available for all families, most commonly because the alignments are too large to handle.
| Seed (2) |
Full (77) |
Representative proteomes | NCBI (82) |
Meta (0) |
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| RP15 (14) |
RP35 (18) |
RP55 (32) |
RP75 (48) |
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| Jalview | ||||||||
| HTML | ||||||||
| PP/heatmap | 1 | |||||||
| Pfam viewer | ||||||||
1Cannot generate PP/Heatmap alignments for seeds; no PP data available
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We make all of our alignments available in Stockholm format. You can download them here as raw, plain text files or as gzip-compressed files.
| Seed (2) |
Full (77) |
Representative proteomes | NCBI (82) |
Meta (0) |
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|---|---|---|---|---|---|---|---|---|
| RP15 (14) |
RP35 (18) |
RP55 (32) |
RP75 (48) |
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| Raw Stockholm | ||||||||
| Gzipped | ||||||||
You can also download a FASTA format file containing the full-length sequences for all sequences in the full alignment.
External links
MyHits provides a collection of tools to handle multiple sequence alignments. For example, one can refine a seed alignment (sequence addition or removal, re-alignment or manual edition) and then search databases for remote homologs using HMMER3.
HMM logo
HMM logos is one way of visualising profile HMMs. Logos provide a quick overview of the properties of an HMM in a graphical form. You can see a more detailed description of HMM logos and find out how you can interpret them here. More...
Trees
This page displays the phylogenetic tree for this family's seed alignment. We use FastTree to calculate neighbour join trees with a local bootstrap based on 100 resamples (shown next to the tree nodes). FastTree calculates approximately-maximum-likelihood phylogenetic trees from our seed alignment.
Note: You can also download the data file for the tree.
Curation and family details
This section shows the detailed information about the Pfam family. You can see the definitions of many of the terms in this section in the glossary and a fuller explanation of the scoring system that we use in the scores section of the help pages.
Curation
| Seed source: | IPR001414 |
| Previous IDs: | none |
| Type: | Family |
| Author: | Mian N, Bateman A |
| Number in seed: | 2 |
| Number in full: | 77 |
| Average length of the domain: | 326.40 aa |
| Average identity of full alignment: | 45 % |
| Average coverage of the sequence by the domain: | 95.20 % |
HMM information
| HMM build commands: |
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
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| Model details: |
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| Model length: | 405 | ||||||||||||
| Family (HMM) version: | 10 | ||||||||||||
| Download: | download the raw HMM for this family |
Species distribution
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