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Q9Y283

- INVS_HUMAN

UniProt

Q9Y283 - INVS_HUMAN

Protein

Inversin

Gene

INVS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (05 Jul 2005)
      Previous versions | rss
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    Functioni

    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. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 By similarity. Does not seem to be strictly required for ciliogenesis By similarity.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. embryonic heart tube left/right pattern formation Source: Ensembl
    2. kidney development Source: Ensembl
    3. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
    4. pancreas development Source: Ensembl
    5. post-embryonic development Source: Ensembl
    6. Wnt signaling pathway Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Wnt signaling pathway

    Keywords - Ligandi

    Calmodulin-binding

    Enzyme and pathway databases

    SignaLinkiQ9Y283.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Inversin
    Alternative name(s):
    Inversion of embryo turning homolog
    Nephrocystin-2
    Gene namesi
    Name:INVS
    Synonyms:INV, NPHP2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:17870. INVS.

    Subcellular locationi

    Cytoplasm By similarity. Cytoplasmcytoskeleton By similarity. Cytoplasmcytoskeletonspindle By similarity. Membrane By similarity; Peripheral membrane protein By similarity. Nucleus By similarity. Cell projectioncilium 1 Publication
    Note: Associates with several components of the cytoskeleton including ciliary, random and polarized microtubules. During mitosis, it is recruited to mitotic spindle. Frequently membrane-associated, membrane localization is dependent upon cell-cell contacts and is redistributed when cell adhesion is disrupted after incubation of the cell monolayer with low-calcium/EGTA medium.

    GO - Cellular componenti

    1. cilium Source: UniProtKB-SubCell
    2. cytoplasm Source: UniProtKB-SubCell
    3. membrane Source: UniProtKB-SubCell
    4. microtubule Source: UniProtKB-KW
    5. nucleus Source: UniProtKB-SubCell
    6. spindle Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane, Microtubule, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Nephronophthisis 2 (NPHP2) [MIM:602088]: An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti482 – 4821P → R in NPHP2. 1 Publication
    VAR_022822
    Natural varianti493 – 4931L → S in NPHP2; impairs ability to target DVL1 for degradation. 1 Publication
    VAR_022823

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Nephronophthisis

    Organism-specific databases

    MIMi602088. phenotype.
    Orphaneti93591. Infantile autosomal recessive medullary cystic kidney disease.
    3156. Senior-Loken syndrome.
    PharmGKBiPA38472.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10651065InversinPRO_0000067016Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei75 – 7513-hydroxyasparagine1 Publication

    Post-translational modificationi

    May be ubiquitinated via its interaction with APC2.By similarity
    Hydroxylated at Asn-75, most probably by HIF1AN.1 Publication

    Keywords - PTMi

    Hydroxylation, Ubl conjugation

    Proteomic databases

    MaxQBiQ9Y283.
    PaxDbiQ9Y283.
    PRIDEiQ9Y283.

    PTM databases

    PhosphoSiteiQ9Y283.

    Expressioni

    Tissue specificityi

    Widely expressed. Strongly expressed in the primary cilia of renal tubular cells.2 Publications

    Gene expression databases

    ArrayExpressiQ9Y283.
    BgeeiQ9Y283.
    CleanExiHS_INVS.
    GenevestigatoriQ9Y283.

    Organism-specific databases

    HPAiHPA049994.

    Interactioni

    Subunit structurei

    Binds calmodulin via its IQ domains. Interacts with APC2. Interacts with alpha-, beta-, and gamma-catenin. Interacts with N-cadherin (CDH2). Interacts with microtubules By similarity. Interacts with NPHP1. Interacts with DVL1, PRICKLE (PRICKLE1 or PRICKLE2) and Strabismus (VANGL1 or VANGL2). Interacts with IQCB1; the interaction likely requires additional interactors. Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme.By similarity5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    B9D2Q9BPU94EBI-751472,EBI-6958971

    Protein-protein interaction databases

    BioGridi118021. 7 interactions.
    IntActiQ9Y283. 6 interactions.
    MINTiMINT-1196568.
    STRINGi9606.ENSP00000262457.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y283.
    SMRiQ9Y283. Positions 12-573.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati13 – 4230ANK 1Add
    BLAST
    Repeati47 – 7630ANK 2Add
    BLAST
    Repeati80 – 11031ANK 3Add
    BLAST
    Repeati113 – 14432ANK 4Add
    BLAST
    Repeati148 – 17730ANK 5Add
    BLAST
    Repeati181 – 21333ANK 6Add
    BLAST
    Repeati220 – 25031ANK 7Add
    BLAST
    Repeati254 – 28330ANK 8Add
    BLAST
    Repeati288 – 31730ANK 9Add
    BLAST
    Repeati321 – 35030ANK 10Add
    BLAST
    Repeati356 – 38530ANK 11Add
    BLAST
    Repeati389 – 41830ANK 12Add
    BLAST
    Repeati422 – 45130ANK 13Add
    BLAST
    Repeati455 – 48430ANK 14Add
    BLAST
    Repeati488 – 51730ANK 15Add
    BLAST
    Repeati523 – 55331ANK 16Add
    BLAST
    Domaini555 – 58430IQ 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini916 – 94530IQ 2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi490 – 4989D-box 1
    Motifi909 – 9179D-box 2

    Domaini

    The D-box 1 (destruction box 1) mediates the interaction with APC2, and may act as a recognition signal for degradation via the ubiquitin-proteasome pathway.By similarity

    Sequence similaritiesi

    Contains 16 ANK repeats.PROSITE-ProRule annotation
    Contains 2 IQ domains.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    HOVERGENiHBG083788.
    InParanoidiQ9Y283.
    OMAiNLQCIHL.
    OrthoDBiEOG7P02H2.
    PhylomeDBiQ9Y283.
    TreeFamiTF312824.

    Family and domain databases

    Gene3Di1.25.40.20. 5 hits.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR000048. IQ_motif_EF-hand-BS.
    [Graphical view]
    PfamiPF00023. Ank. 1 hit.
    PF12796. Ank_2. 6 hits.
    PF00612. IQ. 2 hits.
    [Graphical view]
    PRINTSiPR01415. ANKYRIN.
    SMARTiSM00248. ANK. 15 hits.
    SM00015. IQ. 2 hits.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 2 hits.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 11 hits.
    PS50096. IQ. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y283-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MNKSENLLFA GSSLASQVHA AAVNGDKGAL QRLIVGNSAL KDKEDQFGRT     50
    PLMYCVLADR LDCADALLKA GADVNKTDHS QRTALHLAAQ KGNYRFMKLL 100
    LTRRANWMQK DLEEMTPLHL TTRHRSPKCL ALLLKFMAPG EVDTQDKNKQ 150
    TALHWSAYYN NPEHVKLLIK HDSNIGIPDV EGKIPLHWAA NHKDPSAVHT 200
    VRCILDAAPT ESLLNWQDYE GRTPLHFAVA DGNVTVVDVL TSYESCNITS 250
    YDNLFRTPLH WAALLGHAQI VHLLLERNKS GTIPSDSQGA TPLHYAAQSN 300
    FAETVKVFLK HPSVKDDSDL EGRTSFMWAA GKGSDDVLRT MLSLKSDIDI 350
    NMADKYGGTA LHAAALSGHV STVKLLLENN AQVDATDVMK HTPLFRACEM 400
    GHKDVIQTLI KGGARVDLVD QDGHSLLHWA ALGGNADVCQ ILIENKINPN 450
    VQDYAGRTPL QCAAYGGYIN CMAVLMENNA DPNIQDKEGR TALHWSCNNG 500
    YLDAIKLLLD FAAFPNQMEN NEERYTPLDY ALLGERHEVI QFMLEHGALS 550
    IAAIQDIAAF KIQAVYKGYK VRKAFRDRKN LLMKHEQLRK DAAAKKREEE 600
    NKRKEAEQQK GRRSPDSCRP QALPCLPSTQ DVPSRQSRAP SKQPPAGNVA 650
    QGPEPRDSRG SPGGSLGGAL QKEQHVSSDL QGTNSRRPNE TAREHSKGQS 700
    ACVHFRPNEG SDGSRHPGVP SVEKSRGETA GDERCAKGKG FVKQPSCIRV 750
    AGPDEKGEDS RRAAASLPPH DSHWKPSRRH DTEPKAKCAP QKRRTQELRG 800
    GRCSPAGSSR PGSARGEAVH AGQNPPHHRT PRNKVTQAKL TGGLYSHLPQ 850
    STEELRSGAR RLETSTLSED FQVSKETDPA PGPLSGQSVN IDLLPVELRL 900
    QIIQRERRRK ELFRKKNKAA AVIQRAWRSY QLRKHLSHLR HMKQLGAGDV 950
    DRWRQESTAL LLQVWRKELE LKFPQTTAVS KAPKSPSKGT SGTKSTKHSV 1000
    LKQIYGCSHE GKIHHPTRSV KASSVLRLNS VSNLQCIHLL ENSGRSKNFS 1050
    YNLQSATQPK NKTKP 1065
    Length:1,065
    Mass (Da):117,826
    Last modified:July 5, 2005 - v2
    Checksum:iDACDF33C1B8573AC
    GO
    Isoform 2 (identifier: Q9Y283-2) [UniParc]FASTAAdd to Basket

    Also known as: S2

    The sequence of this isoform differs from the canonical sequence as follows:
         727-896: Missing.

    Show »
    Length:895
    Mass (Da):99,564
    Checksum:i4604C8A1C03E40C6
    GO
    Isoform 3 (identifier: Q9Y283-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         92-101: GNYRFMKLLL → ALRTISTGRI
         102-1065: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:101
    Mass (Da):10,748
    Checksum:iC98F2838A19DFD5D
    GO

    Sequence cautioni

    The sequence AAH41665.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence AAD02131.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti487 – 4871K → Q in AAI11762. (PubMed:15489334)Curated
    Sequence conflicti764 – 7641A → G in AAC79436. (PubMed:11941489)Curated
    Sequence conflicti764 – 7641A → G in AAC79456. (PubMed:11941489)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti242 – 2421S → L.
    Corresponds to variant rs2491097 [ dbSNP | Ensembl ].
    VAR_044119
    Natural varianti482 – 4821P → R in NPHP2. 1 Publication
    VAR_022822
    Natural varianti493 – 4931L → S in NPHP2; impairs ability to target DVL1 for degradation. 1 Publication
    VAR_022823
    Natural varianti888 – 8881S → R.
    Corresponds to variant rs1052867 [ dbSNP | Ensembl ].
    VAR_044120

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei92 – 10110GNYRFMKLLL → ALRTISTGRI in isoform 3. 1 PublicationVSP_014495
    Alternative sequencei102 – 1065964Missing in isoform 3. 1 PublicationVSP_014496Add
    BLAST
    Alternative sequencei727 – 896170Missing in isoform 2. 1 PublicationVSP_014497Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF039217 mRNA. Translation: AAD02131.2. Different initiation.
    AF084367 mRNA. Translation: AAC79436.1.
    AF084382
    , AF084373, AF084374, AF084375, AF084377, AF084379, AF084381, AF084371, AF084369, AF084368, AF084370, AF084372, AF084380, AF084378, AF084376 Genomic DNA. Translation: AAC79456.1.
    AF084382
    , AF084368, AF084369, AF084370, AF084371, AF084372, AF084373, AF084374, AF084375, AF084376, AF084377, AF084378, AF084379, AF084380, AF084381 Genomic DNA. Translation: AAC79457.1.
    AL137072, AL356798, AL445214 Genomic DNA. Translation: CAH72173.1.
    AL137072 Genomic DNA. Translation: CAH72174.1.
    AL445214, AL137072, AL356798 Genomic DNA. Translation: CAI39744.1.
    AL445214, AL137072, AL356798 Genomic DNA. Translation: CAI39745.2.
    AL356798, AL137072, AL445214 Genomic DNA. Translation: CAI40807.1.
    AL356798, AL137072, AL445214 Genomic DNA. Translation: CAI40808.2.
    AL137072, AL356798, AL445214 Genomic DNA. Translation: CAM16212.1.
    CH471105 Genomic DNA. Translation: EAW58926.1.
    BC006370 mRNA. Translation: AAH06370.1.
    BC041665 mRNA. Translation: AAH41665.1. Sequence problems.
    BC111761 mRNA. Translation: AAI11762.1.
    CCDSiCCDS6746.1. [Q9Y283-1]
    CCDS6747.1. [Q9Y283-2]
    RefSeqiNP_055240.2. NM_014425.3. [Q9Y283-1]
    NP_899068.1. NM_183245.2. [Q9Y283-2]
    UniGeneiHs.558477.

    Genome annotation databases

    EnsembliENST00000262456; ENSP00000262456; ENSG00000119509. [Q9Y283-2]
    ENST00000262457; ENSP00000262457; ENSG00000119509. [Q9Y283-1]
    ENST00000374921; ENSP00000364056; ENSG00000119509. [Q9Y283-3]
    GeneIDi27130.
    KEGGihsa:27130.
    UCSCiuc004bao.2. human. [Q9Y283-2]
    uc004bap.2. human. [Q9Y283-1]

    Polymorphism databases

    DMDMi68565551.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF039217 mRNA. Translation: AAD02131.2 . Different initiation.
    AF084367 mRNA. Translation: AAC79436.1 .
    AF084382
    , AF084373 , AF084374 , AF084375 , AF084377 , AF084379 , AF084381 , AF084371 , AF084369 , AF084368 , AF084370 , AF084372 , AF084380 , AF084378 , AF084376 Genomic DNA. Translation: AAC79456.1 .
    AF084382
    , AF084368 , AF084369 , AF084370 , AF084371 , AF084372 , AF084373 , AF084374 , AF084375 , AF084376 , AF084377 , AF084378 , AF084379 , AF084380 , AF084381 Genomic DNA. Translation: AAC79457.1 .
    AL137072 , AL356798 , AL445214 Genomic DNA. Translation: CAH72173.1 .
    AL137072 Genomic DNA. Translation: CAH72174.1 .
    AL445214 , AL137072 , AL356798 Genomic DNA. Translation: CAI39744.1 .
    AL445214 , AL137072 , AL356798 Genomic DNA. Translation: CAI39745.2 .
    AL356798 , AL137072 , AL445214 Genomic DNA. Translation: CAI40807.1 .
    AL356798 , AL137072 , AL445214 Genomic DNA. Translation: CAI40808.2 .
    AL137072 , AL356798 , AL445214 Genomic DNA. Translation: CAM16212.1 .
    CH471105 Genomic DNA. Translation: EAW58926.1 .
    BC006370 mRNA. Translation: AAH06370.1 .
    BC041665 mRNA. Translation: AAH41665.1 . Sequence problems.
    BC111761 mRNA. Translation: AAI11762.1 .
    CCDSi CCDS6746.1. [Q9Y283-1 ]
    CCDS6747.1. [Q9Y283-2 ]
    RefSeqi NP_055240.2. NM_014425.3. [Q9Y283-1 ]
    NP_899068.1. NM_183245.2. [Q9Y283-2 ]
    UniGenei Hs.558477.

    3D structure databases

    ProteinModelPortali Q9Y283.
    SMRi Q9Y283. Positions 12-573.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118021. 7 interactions.
    IntActi Q9Y283. 6 interactions.
    MINTi MINT-1196568.
    STRINGi 9606.ENSP00000262457.

    PTM databases

    PhosphoSitei Q9Y283.

    Polymorphism databases

    DMDMi 68565551.

    Proteomic databases

    MaxQBi Q9Y283.
    PaxDbi Q9Y283.
    PRIDEi Q9Y283.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262456 ; ENSP00000262456 ; ENSG00000119509 . [Q9Y283-2 ]
    ENST00000262457 ; ENSP00000262457 ; ENSG00000119509 . [Q9Y283-1 ]
    ENST00000374921 ; ENSP00000364056 ; ENSG00000119509 . [Q9Y283-3 ]
    GeneIDi 27130.
    KEGGi hsa:27130.
    UCSCi uc004bao.2. human. [Q9Y283-2 ]
    uc004bap.2. human. [Q9Y283-1 ]

    Organism-specific databases

    CTDi 27130.
    GeneCardsi GC09P102861.
    HGNCi HGNC:17870. INVS.
    HPAi HPA049994.
    MIMi 243305. gene.
    602088. phenotype.
    neXtProti NX_Q9Y283.
    Orphaneti 93591. Infantile autosomal recessive medullary cystic kidney disease.
    3156. Senior-Loken syndrome.
    PharmGKBi PA38472.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOVERGENi HBG083788.
    InParanoidi Q9Y283.
    OMAi NLQCIHL.
    OrthoDBi EOG7P02H2.
    PhylomeDBi Q9Y283.
    TreeFami TF312824.

    Enzyme and pathway databases

    SignaLinki Q9Y283.

    Miscellaneous databases

    ChiTaRSi INVS. human.
    GeneWikii INVS.
    GenomeRNAii 27130.
    NextBioi 49848.
    PROi Q9Y283.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y283.
    Bgeei Q9Y283.
    CleanExi HS_INVS.
    Genevestigatori Q9Y283.

    Family and domain databases

    Gene3Di 1.25.40.20. 5 hits.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR000048. IQ_motif_EF-hand-BS.
    [Graphical view ]
    Pfami PF00023. Ank. 1 hit.
    PF12796. Ank_2. 6 hits.
    PF00612. IQ. 2 hits.
    [Graphical view ]
    PRINTSi PR01415. ANKYRIN.
    SMARTi SM00248. ANK. 15 hits.
    SM00015. IQ. 2 hits.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 2 hits.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 11 hits.
    PS50096. IQ. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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."
      Schoen P., Tsuchiya K., Lenoir D., Mochizuki T., Guichard C., Takai S., Maiti A.K., Nihei H., Weil J., Yokoyama T., Bouvagnet P.
      Hum. Genet. 110:157-165(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Kidney.
    2. "The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin."
      Morgan D., Goodship J., Essner J.J., Vogan K.J., Turnpenny L., Yost H.J., Tabin C.J., Strachan T.
      Hum. Genet. 110:377-384(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
      Tissue: Lymph and Muscle.
    6. "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination."
      Otto E.A., Schermer B., Obara T., O'Toole J.F., Hiller K.S., Mueller A.M., Ruf R.G., Hoefele J., Beekmann F., Landau D., Foreman J.W., Goodship J.A., Strachan T., Kispert A., Wolf M.T., Gagnadoux M.F., Nivet H., Antignac C.
      , Walz G., Drummond I.A., Benzing T., Hildebrandt F.
      Nat. Genet. 34:413-420(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH NPHP1, VARIANTS NPHP2 ARG-482 AND SER-493.
    7. "Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways."
      Simons M., Gloy J., Ganner A., Bullerkotte A., Bashkurov M., Kroenig C., Schermer B., Benzing T., Cabello O.A., Jenny A., Mlodzik M., Polok B., Driever W., Obara T., Walz G.
      Nat. Genet. 37:537-543(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH DVL1; PRICKLE AND VANGL.
    8. Cited for: FUNCTION, INTERACTION WITH NPHP3.
    9. Cited for: INTERACTION WITH NPHP1 AND IQCB1.
    10. Cited for: INTERACTION WITH ANKS6; NEK8 AND NPHP3, HYDROXYLATION AT ASN-75.

    Entry informationi

    Entry nameiINVS_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y283
    Secondary accession number(s): A2A2Y2
    , Q2NKL0, Q5W0T6, Q8IVX8, Q9BRB9, Q9Y488, Q9Y498
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: July 5, 2005
    Last modified: October 1, 2014
    This is version 126 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3