Retinaldehyde-binding protein 1

NameRetinaldehyde-binding protein 1
Synonyms
  • Cellular 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
  • transporter activity
  • retinol binding
  • 11-cis retinal binding
Processes
  • visual perception
  • phototransduction, visible light
  • retinoid metabolic process
  • vitamin A 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'.
Pfam Domain Function
Transmembrane RegionsNot Available
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 IDNot Available
GenAtlas IDRLBP1
HGNC IDHGNC:10024
Chromosome Location15
Locus15q26
References
  1. 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
  2. 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
  3. 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
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  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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