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Identification
HMDB Protein ID HMDBP07858
Secondary Accession Numbers
  • 13568
Name Otopetrin-1
Synonyms Not Available
Gene Name OTOP1
Protein Type Unknown
Biological Properties
General Function Involved in biomineral formation
Specific Function Required for normal formation of otoconia in the inner ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and influx of calcium in response to extracellular ATP
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Secreted
  2. Membrane
  3. extracellular space
  4. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:4
Locus 4p16.3
SNPs OTOP1
Gene Sequence
>1839 bp
ATGCTCGAGGGCCTGGGGTCGCCCGCCTCGCCCCGGGCAGCTGCAAGCGCCTCGGTCGCA
GGGTCGTCGGGGCCAGCGGCCTGCTCGCCTCCCTCGTCCTCGGCCCCGAGGTCCCCGAAA
TCCCCGGCCCCCCGGCGGGGCGGTGTGCGCGCCAGCGTCCCACAGAAACTGGCCGAGATG
CTGAGCAGCCAGTATGGGCTGATCGTGTTCGTGGCGGGGCTGCTGCTGCTGCTGGCCTGG
GCCGTGCACGCCGCGGGCGTGAGCAAGAGCGACCTGCTGTGCTTCCTGACGGCGCTCATG
CTGCTGCAGCTGCTGTGGATGCTGTGGTACGTGGGCCGCAGCTCCGCGCACCGCCGCCTC
TTCCGCCTCAAGGACACGCACGCGGGTGCCGGCTGGCTGCGCGGTAGTATCACATTGTTT
GCAGTCATTACCGTCATCCTGGGATGCCTTAAAATTGGATACTTCATTGGATTTTCAGAA
TGTTTATCAGCCACTGAAGGAGTTTTCCCAGTCACCCATTCAGTGCATACTTTGTTGCAG
GTATATTTTCTTTGGGGGCATGCAAAGGATATTATCCAGTCTTTCAAAACACTGGAAAGG
TTTGGAGTGATCCACTCGGTGTTCACCAACCTGCTTCTGTGGGCCAATGGCGTCCTCAAT
GAGTCAAAGCACCAACTCAATGAGCACAAGGAACGGCTCATCACTCTGGGTTTTGGGAAC
ATAACAACAGTTTTAGATGACCACACACCGCAGTGTAACTGCACGCCCCCAACTCTGTGC
ACTGCCATCTCCCACGGGATCTACTACCTCTACCCCTTCAACATAGAGTATCAGATCCTG
GCCTCCACAATGCTCTACGTCCTGTGGAAGAACATCGGGCGCAAAGTTGACAGCCATCAG
CACCAGAAGATGCAGTTCAAGTCTGATGGGGTCATGGTGGGCGCAGTCCTGGGCCTGACC
GTGCTGGCCGCCACCATTGCTGTGGTGGTGGTATACCTGATTCATATTGGGCGCTCCAAG
ACCAAGAGCGAGTCGGCACTCATCATGTTCTACCTGTATGCCATCACCCTGCTGATGCTT
ATGGGGGCTGCGGGGCTGGCTGGAATCCGGATTTACAGGATAGACGAGAAGTCACTGGAT
GAGTCCAAAAATCCGGCCCGCAAACTGGACTCGGACCTCTTGGTGGGCACTGCCTCGGGC
TCCTGGCTTATCTCCTGGGGCTCAATCTTGGCCATCCTCTGTGCTGAGGGCCACCCCCGC
TACACCTGGTACAACCTGCCCTACTCCATCCTGGCGATCGTGGAGAAGTACATCCAGAAC
CTCTTCATCTTTGAATCCATTCACCGAGAGCCTGAAAAACTCTCTGAGGACATCCAAACC
CTTCGGGTGGTCACAGTCTGCAATGGCAACACCATGCCCCTTGCTTCTTCCTGCCCCAAG
AGTGGAGGTGTGGCCAGAGATGTGGCTCCCCAGGGCAAGGACATGCCACCAGCAGCCAAT
GGAAATGTGTGCATGAGAGAAAGCCATGACAAGGAGGAGGAGAAGCAGGAGGAGAGCAGC
TGGGGAGGGAGCCCAAGCCCAGTCCGCCTTCCCCGTTTCTTACAGGGCAACGCCAAGAGA
AAAGTCCTGAGGAATATTGCAGCCTTCTTGTTCCTCTGCAATATTTCGCTTTGGATACCT
CCCGCCTTTGGCTGTCGACCTGAGTATGACAATGGATTGGAGGAGATTGTCTTTGGCTTT
GAACCCTGGATAATTGTGGTCAACCTGGCCATGCCTTTTTCTATTTTCTATCGAATGCAC
GCAGCTGCCTCCCTCTTTGAGGTCTATTGTAAGATATAG
Protein Properties
Number of Residues 612
Molecular Weight 67352.8
Theoretical pI 8.51
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 67-87
  • 92-112
  • 137-157
  • 168-188
  • 269-289
  • 311-331
  • 346-366
  • 393-413
  • 545-565
  • 576-596
Protein Sequence
>Otopetrin-1
MLEGLGSPASPRAAASASVAGSSGPAACSPPSSSAPRSPESPAPRRGGVRASVPQKLAEM
LSSQYGLIVFVAGLLLLLAWAVHAAGVSKSDLLCFLTALMLLQLLWMLWYVGRSSAHRRL
FRLKDTHAGAGWLRGSITLFAVITVILGCLKIGYFIGFSECLSATEGVFPVTHSVHTLLQ
VYFLWGHAKDIIQSFKTLERFGVIHSVFTNLLLWANGVLNESKHQLNEHKERLITLGFGN
ITTVLDDHTPQCNCTPPTLCTAISHGIYYLYPFNIEYQILASTMLYVLWKNIGRKVDSHQ
HQKMQFKSDGVMVGAVLGLTVLAATIAVVVVYLIHIGRSKTKSESALIMFYLYAITLLML
MGAAGLAGIRIYRIDEKSLDESKNPARKLDSDLLVGTASGSWLISWGSILAILCAEGHPR
YTWYNLPYSILAIVEKYIQNLFIFESIHREPEKLSEDIQTLRVVTVCNGNTMPLASSCPK
SGGVARDVAPQGKDMPPAANGNVCMRESHDKEEEKQEESSWGGSPSPVRLPRFLQGNAKR
KVLRNIAAFLFLCNISLWIPPAFGCRPEYDNGLEEIVFGFEPWIIVVNLAMPFSIFYRMH
AAASLFEVYCKI
GenBank ID Protein 120660054
UniProtKB/Swiss-Prot ID Q7RTM1
UniProtKB/Swiss-Prot Entry Name OTOP1_HUMAN
PDB IDs Not Available
GenBank Gene ID BC130430
GeneCard ID OTOP1
GenAtlas ID OTOP1
HGNC ID HGNC:19656
References
General References
  1. 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. [PubMed:15489334 ]
  2. Hurle B, Ignatova E, Massironi SM, Mashimo T, Rios X, Thalmann I, Thalmann R, Ornitz DM: Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. Hum Mol Genet. 2003 Apr 1;12(7):777-89. [PubMed:12651873 ]