Retinaldehyde-binding protein 1

NameRetinaldehyde-binding protein 1
SynonymsCellular retinaldehyde-binding protein CRALBP
Gene NameRLBP1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0010555|Retinaldehyde-binding protein 1
MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETRE
EAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNF
RLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAY
CFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHF
IHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKA
VAEQLFGPQAQAENTAF
Number of residues317
Molecular Weight36474.02
Theoretical pI4.7
GO Classification
Functions
    11-cis retinal binding
transporter activity
retinol binding
Processes
    vitamin A metabolic process
visual perception
phototransduction, visible light
retinoid metabolic process
Components
    cytosol
cell body
General FunctionTransporter activity
Specific FunctionSoluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.
Transmembrane Regions
GenBank Protein ID190854
UniProtKB IDP12271
UniProtKB Entry NameRLBP1_HUMAN
Cellular LocationCytoplasm
Gene sequence
>lcl|BSEQ0010556|Retinaldehyde-binding protein 1 (RLBP1)
ATGTCAGAAGGGGTGGGCACGTTCCGCATGGTACCTGAAGAGGAACAGGAGCTCCGTGCC
CAACTGGAGCAGCTCACAACCAAGGACCATGGACCTGTCTTTGGCCCGTGCAGCCAGCTG
CCCCGCCACACCTTGCAGAAGGCCAAGGATGAGCTGAACGAGAGAGAGGAGACCCGGGAG
GAGGCAGTGCGAGAGCTGCAGGAGATGGTGCAGGCGCAGGCGGCCTCGGGGGAGGAGCTG
GCGGTGGCCGTGGCGGAGAGGGTGCAAGAGAAGGACAGCGGCTTCTTCCTGCGCTTCATC
CGCGCACGGAAGTTCAACGTGGGCCGTGCCTATGAGCTGCTCAGAGGCTATGTGAATTTC
CGGCTGCAGTACCCTGAGCTCTTTGACAGCCTGTCCCCAGAGGCTGTCCGCTGCACCATT
GAAGCTGGCTACCCTGGTGTCCTCTCTAGTCGGGACAAGTATGGCCGAGTGGTCATGCTC
TTCAACATTGAGAACTGGCAAAGTCAAGAAATCACCTTTGATGAGATCTTGCAGGCATAT
TGCTTCATCCTGGAGAAGCTGCTGGAGAATGAGGAAACTCAAATCAATGGCTTCTGCATC
ATTGAGAACTTCAAGGGCTTTACCATGCAGCAGGCTGCTAGTCTCCGGACTTCAGATCTC
AGGAAGATGGTGGACATGCTCCAGGATTCCTTCCCAGCCCGGTTCAAAGCCATCCACTTC
ATCCACCAGCCATGGTACTTCACCACGACCTACAATGTGGTCAAGCCCTTCTTGAAGAGC
AAGCTGCTTGAGAGGGTCTTTGTCCACGGGGATGACCTTTCTGGTTTCTACCAGGAGATC
GATGAGAACATCCTGCCCTCTGACTTCGGGGGCACGCTGCCCAAGTATGATGGCAAGGCC
GTTGCTGAGCAGCTCTTTGGCCCCCAGGCCCAAGCTGAGAACACAGCCTTCTGA
GenBank Gene IDJ04213
GeneCard IDNone
GenAtlas IDRLBP1
HGNC IDHGNC:10024
Chromosome Location15
Locus15q26
References
  1. Crabb JW, Carlson A, Chen Y, Goldflam S, Intres R, West KA, Hulmes JD, Kapron JT, Luck LA, Horwitz J, Bok D: Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein. Protein Sci. 1998 Mar;7(3):746-57.[9541407 ]
  2. Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N: Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 2002 Apr;70(4):955-64. Epub 2002 Feb 26.[11868161 ]
  3. Crabb JW, Goldflam S, Harris SE, Saari JC: Cloning of the cDNAs encoding the cellular retinaldehyde-binding protein from bovine and human retina and comparison of the protein structures. J Biol Chem. 1988 Dec 15;263(35):18688-92.[3198595 ]
  4. Intres R, Goldflam S, Cook JR, Crabb JW: Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein. J Biol Chem. 1994 Oct 14;269(41):25411-8.[7929238 ]
  5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7.[15489334 ]
  6. Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K: Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci. 1999 Apr;40(5):995-1000.[10102298 ]
  7. Morimura H, Berson EL, Dryja TP: Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci. 1999 Apr;40(5):1000-4.[10102299 ]
  8. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21.[14702039 ]
  9. He X, Lobsiger J, Stocker A: Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W. Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18545-50. doi: 10.1073/pnas.0907454106. Epub 2009 Oct 21.[19846785 ]
  10. Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ: Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet. 1997 Oct;17(2):198-200.[9326942 ]

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