Hmdb loader
Identification
HMDB Protein ID HMDBP07741
Secondary Accession Numbers
  • 13450
Name Inversin
Synonyms
  1. Inversion of embryo turning homolog
  2. Nephrocystin-2
Gene Name INVS
Protein Type Unknown
Biological Properties
General Function Involved in calmodulin binding
Specific Function Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Nucleus
  2. Cytoplasm
  3. Cytoplasm
  4. Cytoplasm
  5. Peripheral membrane protein
  6. Membrane
  7. cytoskeleton
  8. cytoskeleton
  9. spindle
Gene Properties
Chromosome Location Chromosome:9
Locus 9q31
SNPs INVS
Gene Sequence
>3198 bp
ATGAACAAGTCAGAGAACCTGCTGTTTGCTGGTTCATCATTAGCATCACAAGTCCATGCT
GCTGCCGTTAATGGAGATAAGGGTGCTCTACAGAGGCTCATCGTAGGAAACTCTGCTCTT
AAAGACAAAGAAGATCAGTTTGGGAGAACACCACTTATGTATTGCGTGTTGGCTGACAGA
TTGGATTGTGCAGATGCTCTTCTGAAGGCAGGAGCAGATGTGAATAAAACTGACCATAGC
CAGAGAACAGCCCTCCATCTTGCAGCCCAGAAGGGAAATTATCGTTTCATGAAACTCTTA
CTTACACGCAGAGCAAACTGGATGCAAAAGGATCTGGAAGAGATGACTCCTTTGCACTTG
ACCACCCGGCACAGGAGCCCTAAGTGTTTGGCACTTCTGCTGAAGTTTATGGCACCAGGA
GAAGTGGATACACAGGATAAAAACAAGCAAACAGCTCTGCATTGGAGTGCCTACTACAAT
AACCCTGAGCATGTGAAGCTGCTCATCAAGCATGATTCTAACATTGGGATTCCTGATGTT
GAAGGCAAGATCCCACTTCACTGGGCAGCCAACCATAAAGATCCAAGTGCTGTTCACACA
GTGAGATGCATTCTGGATGCTGCTCCAACAGAGTCTTTACTGAACTGGCAAGACTACGAG
GGTCGAACTCCTCTTCACTTTGCAGTTGCTGATGGGAATGTGACCGTGGTTGATGTCTTG
ACCTCATATGAAAGCTGCAATATAACGTCTTATGATAACTTATTTCGAACCCCACTGCAC
TGGGCAGCTTTATTAGGCCATGCACAGATTGTCCATCTCCTTTTAGAAAGAAATAAGTCT
GGAACTATCCCATCTGACAGCCAAGGAGCCACACCTTTGCACTATGCTGCTCAGAGTAAC
TTTGCTGAAACGGTTAAAGTGTTTTTAAAACATCCTTCAGTGAAAGATGATTCAGACCTG
GAAGGAAGAACATCCTTTATGTGGGCAGCTGGCAAAGGCAGTGATGATGTCCTTAGAACT
ATGCTGAGCTTAAAATCGGACATAGATATTAACATGGCTGACAAATATGGAGGTACAGCT
TTGCATGCTGCTGCTCTTTCTGGCCATGTCAGCACCGTGAAGTTATTACTGGAAAATAAT
GCTCAAGTAGATGCTACTGATGTTATGAAACATACTCCACTTTTCCGAGCCTGTGAGATG
GGACACAAAGATGTGATTCAGACACTCATTAAAGGTGGAGCAAGGGTAGATCTAGTTGAC
CAAGATGGACATTCTCTTCTACATTGGGCAGCACTGGGAGGAAATGCTGATGTTTGCCAG
ATATTAATAGAAAATAAGATCAATCCAAATGTCCAGGATTATGCAGGAAGAACCCCTTTG
CAGTGTGCAGCATATGGAGGCTATATCAACTGCATGGCAGTTCTCATGGAAAACAATGCA
GACCCTAACATTCAAGACAAAGAGGGAAGAACAGCTTTGCATTGGTCCTGCAACAATGGA
TACCTTGATGCCATTAAATTACTGCTAGACTTTGCTGCTTTCCCTAATCAGATGGAAAAC
AATGAAGAGAGATACACACCCCTTGATTATGCTTTGCTTGGTGAGCGCCATGAAGTGATC
CAGTTCATGTTGGAGCACGGTGCCCTGTCCATCGCAGCCATACAAGACATCGCCGCCTTC
AAAATCCAAGCTGTCTACAAAGGGTACAAGGTCAGAAAAGCCTTCCGAGACAGGAAAAAT
CTCCTCATGAAGCATGAACAGTTGAGAAAAGATGCTGCTGCCAAAAAGCGAGAGGAAGAA
AACAAACGAAAAGAGGCAGAACAGCAAAAAGGAAGGCGGAGCCCAGATTCCTGCAGACCC
CAGGCCCTTCCCTGTCTGCCTAGCACCCAGGATGTGCCCAGCAGGCAGAGCCGGGCCCCC
AGCAAGCAGCCTCCTGCTGGCAACGTGGCCCAAGGCCCTGAGCCAAGAGACAGCAGAGGA
TCTCCAGGAGGGTCTCTAGGCGGAGCCCTCCAGAAGGAGCAGCATGTTTCCTCAGATTTG
CAGGGAACAAACTCCAGAAGGCCAAATGAAACAGCCAGAGAACATTCTAAAGGCCAATCT
GCTTGTGTCCACTTCAGACCCAATGAAGGCAGTGATGGAAGCAGGCATCCAGGAGTTCCC
TCTGTTGAGAAGTCCAGAGGTGAGACAGCTGGCGATGAGCGGTGTGCAAAGGGGAAAGGC
TTCGTGAAGCAGCCCTCCTGTATCAGGGTGGCTGGGCCTGATGAGAAAGGAGAGGACTCC
AGGCGGGCAGCTGCAAGCCTTCCACCGCACGATAGCCACTGGAAGCCCAGCAGGCGGCAT
GACACAGAACCCAAGGCCAAATGTGCCCCCCAGAAAAGGCGCACTCAAGAGCTCAGAGGA
GGAAGGTGCTCTCCGGCTGGTTCTAGCCGCCCTGGCAGTGCCCGGGGGGAGGCGGTCCAT
GCTGGGCAGAATCCTCCCCACCATCGTACACCAAGAAACAAAGTGACACAAGCCAAGCTC
ACAGGAGGGCTCTATTCACATTTGCCACAGAGCACAGAGGAGTTGAGGTCAGGAGCTAGG
AGGCTGGAGACATCTACCCTGTCCGAGGACTTTCAGGTATCTAAGGAGACTGATCCAGCA
CCTGGTCCCCTCTCTGGGCAGAGTGTGAATATTGACCTTCTCCCCGTAGAGCTCCGACTG
CAGATAATTCAGAGAGAACGAAGGAGGAAGGAGCTGTTTCGCAAAAAGAACAAGGCAGCA
GCAGTCATCCAGCGCGCCTGGCGAAGCTACCAGCTCAGGAAGCACCTGTCCCACCTTCGG
CATATGAAGCAGCTTGGAGCTGGAGATGTGGACAGATGGAGGCAAGAGTCTACAGCATTG
CTCCTCCAGGTTTGGAGGAAGGAACTGGAACTAAAATTCCCCCAAACCACTGCAGTAAGC
AAGGCCCCCAAGAGTCCATCCAAGGGCACCTCAGGCACAAAGTCCACCAAGCACTCAGTG
CTTAAGCAAATCTATGGTTGTTCTCACGAAGGGAAAATACATCATCCTACAAGATCTGTA
AAAGCCTCTTCTGTGCTGCGTCTCAACTCAGTGAGCAACCTACAGTGTATACATCTCCTT
GAGAACAGTGGAAGATCAAAGAACTTTTCTTATAACCTGCAATCAGCTACTCAGCCAAAA
AACAAAACAAAACCTTGA
Protein Properties
Number of Residues 1065
Molecular Weight 117825.4
Theoretical pI 9.89
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Inversin
MNKSENLLFAGSSLASQVHAAAVNGDKGALQRLIVGNSALKDKEDQFGRTPLMYCVLADR
LDCADALLKAGADVNKTDHSQRTALHLAAQKGNYRFMKLLLTRRANWMQKDLEEMTPLHL
TTRHRSPKCLALLLKFMAPGEVDTQDKNKQTALHWSAYYNNPEHVKLLIKHDSNIGIPDV
EGKIPLHWAANHKDPSAVHTVRCILDAAPTESLLNWQDYEGRTPLHFAVADGNVTVVDVL
TSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLERNKSGTIPSDSQGATPLHYAAQSN
FAETVKVFLKHPSVKDDSDLEGRTSFMWAAGKGSDDVLRTMLSLKSDIDINMADKYGGTA
LHAAALSGHVSTVKLLLENNAQVDATDVMKHTPLFRACEMGHKDVIQTLIKGGARVDLVD
QDGHSLLHWAALGGNADVCQILIENKINPNVQDYAGRTPLQCAAYGGYINCMAVLMENNA
DPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAAFPNQMENNEERYTPLDYALLGERHEVI
QFMLEHGALSIAAIQDIAAFKIQAVYKGYKVRKAFRDRKNLLMKHEQLRKDAAAKKREEE
NKRKEAEQQKGRRSPDSCRPQALPCLPSTQDVPSRQSRAPSKQPPAGNVAQGPEPRDSRG
SPGGSLGGALQKEQHVSSDLQGTNSRRPNETAREHSKGQSACVHFRPNEGSDGSRHPGVP
SVEKSRGETAGDERCAKGKGFVKQPSCIRVAGPDEKGEDSRRAAASLPPHDSHWKPSRRH
DTEPKAKCAPQKRRTQELRGGRCSPAGSSRPGSARGEAVHAGQNPPHHRTPRNKVTQAKL
TGGLYSHLPQSTEELRSGARRLETSTLSEDFQVSKETDPAPGPLSGQSVNIDLLPVELRL
QIIQRERRRKELFRKKNKAAAVIQRAWRSYQLRKHLSHLRHMKQLGAGDVDRWRQESTAL
LLQVWRKELELKFPQTTAVSKAPKSPSKGTSGTKSTKHSVLKQIYGCSHEGKIHHPTRSV
KASSVLRLNSVSNLQCIHLLENSGRSKNFSYNLQSATQPKNKTKP
GenBank ID Protein 34304381
UniProtKB/Swiss-Prot ID Q9Y283
UniProtKB/Swiss-Prot Entry Name INVS_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_014425.2
GeneCard ID INVS
GenAtlas ID INVS
HGNC ID HGNC:17870
References
General References
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  2. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed:15164053 ]
  3. Schon P, Tsuchiya K, Lenoir D, Mochizuki T, Guichard C, Takai S, Maiti AK, Nihei H, Weil J, Yokoyama T, Bouvagnet P: Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia. Hum Genet. 2002 Feb;110(2):157-65. Epub 2001 Dec 18. [PubMed:11935322 ]
  4. Morgan D, Goodship J, Essner JJ, Vogan KJ, Turnpenny L, Yost HJ, Tabin CJ, Strachan T: The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin. Hum Genet. 2002 Apr;110(4):377-84. Epub 2002 Mar 2. [PubMed:11941489 ]
  5. Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F: Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet. 2003 Aug;34(4):413-20. [PubMed:12872123 ]
  6. Simons M, Gloy J, Ganner A, Bullerkotte A, Bashkurov M, Kronig C, Schermer B, Benzing T, Cabello OA, Jenny A, Mlodzik M, Polok B, Driever W, Obara T, Walz G: Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat Genet. 2005 May;37(5):537-43. Epub 2005 Apr 24. [PubMed:15852005 ]