Human Metabolome Database: Showing Protein Otopetrin-1 (HMDBP07858)

Identification Biological properties Gene properties Protein properties External links References XML Show 1 metabolite

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	Secreted Membrane extracellular space 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	DUF270 (PF03189 )
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
External Links
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	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 ] 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 ]