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Q68DC2

- ANKS6_HUMAN

UniProt

Q68DC2 - ANKS6_HUMAN

Protein

Ankyrin repeat and SAM domain-containing protein 6

Gene

ANKS6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (06 Dec 2005)
      Previous versions | rss
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    Functioni

    Required for renal function.1 Publication

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ankyrin repeat and SAM domain-containing protein 6
    Alternative name(s):
    Ankyrin repeat domain-containing protein 14
    SamCystin
    Sterile alpha motif domain-containing protein 6
    Short name:
    SAM domain-containing protein 6
    Gene namesi
    Name:ANKS6
    Synonyms:ANKRD14, PKDR1, SAMD6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:26724. ANKS6.

    Subcellular locationi

    Cell projectioncilium By similarity. Cytoplasm By similarity
    Note: Localizes to the proximal region of the primary cilium in the presence of INVS.By similarity

    GO - Cellular componenti

    1. cilium Source: UniProtKB-SubCell
    2. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Nephronophthisis 16 (NPHP16) [MIM:615382]: A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti312 – 3121A → P in NPHP16. 1 Publication
    VAR_070106
    Natural varianti441 – 4411Q → R in NPHP16.
    Corresponds to variant rs377750405 [ dbSNP | Ensembl ].
    VAR_070108

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Joubert syndrome, Nephronophthisis

    Organism-specific databases

    MIMi615382. phenotype.
    Orphaneti93591. Infantile autosomal recessive medullary cystic kidney disease.
    93592. Juvenile autosomal recessive medullary cystic kidney disease.
    PharmGKBiPA134931829.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 871871Ankyrin repeat and SAM domain-containing protein 6PRO_0000067065Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei138 – 13813-hydroxyasparagineBy similarity

    Post-translational modificationi

    Hydroxylated at Asn-138, most probably by HIF1AN. This hydroxylation results in decreased NEK8-binding.

    Keywords - PTMi

    Hydroxylation

    Proteomic databases

    MaxQBiQ68DC2.
    PaxDbiQ68DC2.
    PRIDEiQ68DC2.

    PTM databases

    PhosphoSiteiQ68DC2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ68DC2.
    BgeeiQ68DC2.
    CleanExiHS_ANKS6.
    GenevestigatoriQ68DC2.

    Organism-specific databases

    HPAiHPA008355.

    Interactioni

    Subunit structurei

    Self-associates. Interacts (via SAM domain) with BICC1 (via KH domains) in an RNA-dependent manner By similarity. Central 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 similarity1 Publication

    Protein-protein interaction databases

    BioGridi128464. 1 interaction.
    IntActiQ68DC2. 1 interaction.
    MINTiMINT-8201748.

    Structurei

    3D structure databases

    ProteinModelPortaliQ68DC2.
    SMRiQ68DC2. Positions 9-419, 774-836.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati8 – 3730ANK 1Add
    BLAST
    Repeati77 – 10630ANK 2Add
    BLAST
    Repeati110 – 13930ANK 3Add
    BLAST
    Repeati143 – 17230ANK 4Add
    BLAST
    Repeati190 – 21930ANK 5Add
    BLAST
    Repeati224 – 25330ANK 6Add
    BLAST
    Repeati257 – 28933ANK 7Add
    BLAST
    Repeati291 – 32131ANK 8Add
    BLAST
    Repeati325 – 35430ANK 9Add
    BLAST
    Repeati359 – 38830ANK 10Add
    BLAST
    Repeati392 – 42332ANK 11Add
    BLAST
    Domaini773 – 83664SAMPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi617 – 769153Ser-richAdd
    BLAST

    Domaini

    The ankyrin repeats and the SAM domain are essential for self-association By similarity. Ankyrin repeats are necessary and sufficient for NEK8-binding.By similarity1 Publication

    Sequence similaritiesi

    Contains 11 ANK repeats.PROSITE-ProRule annotation
    Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    HOVERGENiHBG059049.
    OMAiDRKHRDL.
    OrthoDBiEOG7DRJ2G.
    PhylomeDBiQ68DC2.
    TreeFamiTF328552.

    Family and domain databases

    Gene3Di1.10.150.50. 1 hit.
    1.25.40.20. 3 hits.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    [Graphical view]
    PfamiPF12796. Ank_2. 3 hits.
    PF00536. SAM_1. 1 hit.
    [Graphical view]
    PRINTSiPR01415. ANKYRIN.
    SMARTiSM00248. ANK. 9 hits.
    SM00454. SAM. 1 hit.
    [Graphical view]
    SUPFAMiSSF47769. SSF47769. 1 hit.
    SSF48403. SSF48403. 3 hits.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 7 hits.
    PS50105. SAM_DOMAIN. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q68DC2-1) [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

    MGEGGLPPAF QLLLRACDQG DTETARRLLE PGAAEPAERG AEPEAGAEPA    50
    GAEVAGPGAA AAGAVGAPVP VDCSDEAGNT ALQFAAAGGH EPLVRFLLRR 100
    GASVNSRNHY GWSALMQAAR FGHVSVAHLL LDHGADVNAQ NRLGASVLTV 150
    ASRGGHLGVV KLLLEAGAFV DHHHPSGEQL GLGGSRDEPL DITALMAAIQ 200
    HGHEAVVRLL MEWGADPNHA ARTVGWSPLM LAALTGRLGV AQQLVEKGAN 250
    PDHLSVLEKT AFEVALDCKH RDLVDYLDPL TTVRPKTDEE KRRPDIFHAL 300
    KMGNFQLVKE IADEDPSHVN LVNGDGATPL MLAAVTGQLA LVQLLVERHA 350
    DVDKQDSVHG WTALMQATYH GNKEIVKYLL NQGADVTLRA KNGYTAFDLV 400
    MLLNDPDTEL VRLLASVCMQ VNKDKGRPSH QPPLPHSKVR QPWSIPVLPD 450
    DKGGLKSWWN RMSNRFRKLK LMQTLPRGLS SNQPLPFSDE PEPALDSTMR 500
    AAPQDKTSRS ALPDAAPVTK DNGPGSTRGE KEDTLLTTML RNGAPLTRLP 550
    SDKLKAVIPP FLPPSSFELW SSDRSRTRHN GKADPMKTAL PQRASRGHPV 600
    GGGGTDTTPV RPVKFPSLPR SPASSANSGN FNHSPHSSGG SSGVGVSRHG 650
    GELLNRSGGS IDNVLSQIAA QRKKAAGLLE QKPSHRSSPV GPAPGSSPSE 700
    LPASPAGGSA PVGKKLETSK RPPSGTSTTS KSTSPTLTPS PSPKGHTAES 750
    SVSSSSSHRQ SKSSGGSSSG TITDEDELTG ILKKLSLEKY QPIFEEQEVD 800
    MEAFLTLTDG DLKELGIKTD GSRQQILAAI SELNAGKGRE RQILQETIHN 850
    FHSSFESSAS NTRAPGNSPC A 871
    Length:871
    Mass (Da):92,219
    Last modified:December 6, 2005 - v2
    Checksum:iC4E3AFFE9C9DD6C8
    GO
    Isoform 2 (identifier: Q68DC2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         288-335: DEEKRRPDIF...GATPLMLAAV → GQAACPPWLH...RPLRLRKWCA
         336-871: Missing.

    Note: Gene prediction confirmed by EST data.

    Show »
    Length:335
    Mass (Da):35,392
    Checksum:i88570D12C8D0A758
    GO
    Isoform 3 (identifier: Q68DC2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         714-714: K → KQ

    Note: No experimental confirmation available.

    Show »
    Length:872
    Mass (Da):92,347
    Checksum:iAA7F61B02CE2427C
    GO

    Sequence cautioni

    The sequence AAH64367.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAC04317.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAH18298.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAH69985.2 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAH69986.2 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAH71295.2 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAH71296.2 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti244 – 2441L → P in CAH18298. (PubMed:17974005)Curated
    Sequence conflicti402 – 4021L → P in CAH18302. (PubMed:15489334)Curated
    Sequence conflicti647 – 6471S → G in BAC04317. (PubMed:14702039)Curated
    Sequence conflicti808 – 8081T → A in CAH18302. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti222 – 2221R → W.1 Publication
    Corresponds to variant rs41283630 [ dbSNP | Ensembl ].
    VAR_070105
    Natural varianti312 – 3121A → P in NPHP16. 1 Publication
    VAR_070106
    Natural varianti440 – 4401R → Q.1 Publication
    VAR_070107
    Natural varianti441 – 4411Q → R in NPHP16.
    Corresponds to variant rs377750405 [ dbSNP | Ensembl ].
    VAR_070108
    Natural varianti640 – 6401G → S.1 Publication
    VAR_070109
    Natural varianti644 – 6441V → I.4 Publications
    Corresponds to variant rs6415847 [ dbSNP | Ensembl ].
    VAR_034794
    Natural varianti735 – 7351P → A.1 Publication
    Corresponds to variant rs79414550 [ dbSNP | Ensembl ].
    VAR_070110

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei288 – 33548DEEKR…MLAAV → GQAACPPWLHRGPQIVFMWL KLRIALLEGHAELRVQPCRP LRLRKWCA in isoform 2. CuratedVSP_016496Add
    BLAST
    Alternative sequencei336 – 871536Missing in isoform 2. CuratedVSP_016497Add
    BLAST
    Alternative sequencei714 – 7141K → KQ in isoform 3. 1 PublicationVSP_016498

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ309791
    , DQ309777, DQ309778, DQ309779, DQ309780, DQ309781, DQ309782, DQ309783, DQ309784, DQ309785, DQ309786, DQ309787, DQ309788, DQ309789, DQ309790 Genomic DNA. Translation: ABC48694.1.
    AL353782, AL807776 Genomic DNA. Translation: CAH71295.2. Sequence problems.
    AL353782, AL807776 Genomic DNA. Translation: CAH71296.2. Sequence problems.
    AL353782, AL807776 Genomic DNA. Translation: CAM14169.1.
    AL807776, AL353782 Genomic DNA. Translation: CAH69985.2. Sequence problems.
    AL807776, AL353782 Genomic DNA. Translation: CAH69986.2. Sequence problems.
    AL807776, AL353782 Genomic DNA. Translation: CAM13062.1.
    CR749467 mRNA. Translation: CAH18298.1. Different initiation.
    CR749472 mRNA. Translation: CAH18302.1.
    BC064367 mRNA. Translation: AAH64367.1. Different initiation.
    AK094247 mRNA. Translation: BAC04317.1. Different initiation.
    CCDSiCCDS43856.1. [Q68DC2-1]
    RefSeqiNP_775822.3. NM_173551.3. [Q68DC2-1]
    XP_006717061.1. XM_006716998.1. [Q68DC2-4]
    UniGeneiHs.406890.

    Genome annotation databases

    EnsembliENST00000353234; ENSP00000297837; ENSG00000165138. [Q68DC2-1]
    GeneIDi203286.
    KEGGihsa:203286.
    UCSCiuc004ayt.3. human. [Q68DC2-1]

    Polymorphism databases

    DMDMi83305683.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ309791
    , DQ309777 , DQ309778 , DQ309779 , DQ309780 , DQ309781 , DQ309782 , DQ309783 , DQ309784 , DQ309785 , DQ309786 , DQ309787 , DQ309788 , DQ309789 , DQ309790 Genomic DNA. Translation: ABC48694.1 .
    AL353782 , AL807776 Genomic DNA. Translation: CAH71295.2 . Sequence problems.
    AL353782 , AL807776 Genomic DNA. Translation: CAH71296.2 . Sequence problems.
    AL353782 , AL807776 Genomic DNA. Translation: CAM14169.1 .
    AL807776 , AL353782 Genomic DNA. Translation: CAH69985.2 . Sequence problems.
    AL807776 , AL353782 Genomic DNA. Translation: CAH69986.2 . Sequence problems.
    AL807776 , AL353782 Genomic DNA. Translation: CAM13062.1 .
    CR749467 mRNA. Translation: CAH18298.1 . Different initiation.
    CR749472 mRNA. Translation: CAH18302.1 .
    BC064367 mRNA. Translation: AAH64367.1 . Different initiation.
    AK094247 mRNA. Translation: BAC04317.1 . Different initiation.
    CCDSi CCDS43856.1. [Q68DC2-1 ]
    RefSeqi NP_775822.3. NM_173551.3. [Q68DC2-1 ]
    XP_006717061.1. XM_006716998.1. [Q68DC2-4 ]
    UniGenei Hs.406890.

    3D structure databases

    ProteinModelPortali Q68DC2.
    SMRi Q68DC2. Positions 9-419, 774-836.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128464. 1 interaction.
    IntActi Q68DC2. 1 interaction.
    MINTi MINT-8201748.

    PTM databases

    PhosphoSitei Q68DC2.

    Polymorphism databases

    DMDMi 83305683.

    Proteomic databases

    MaxQBi Q68DC2.
    PaxDbi Q68DC2.
    PRIDEi Q68DC2.

    Protocols and materials databases

    DNASUi 203286.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000353234 ; ENSP00000297837 ; ENSG00000165138 . [Q68DC2-1 ]
    GeneIDi 203286.
    KEGGi hsa:203286.
    UCSCi uc004ayt.3. human. [Q68DC2-1 ]

    Organism-specific databases

    CTDi 203286.
    GeneCardsi GC09M101493.
    H-InvDB HIX0025696.
    HGNCi HGNC:26724. ANKS6.
    HPAi HPA008355.
    MIMi 615370. gene.
    615382. phenotype.
    neXtProti NX_Q68DC2.
    Orphaneti 93591. Infantile autosomal recessive medullary cystic kidney disease.
    93592. Juvenile autosomal recessive medullary cystic kidney disease.
    PharmGKBi PA134931829.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOVERGENi HBG059049.
    OMAi DRKHRDL.
    OrthoDBi EOG7DRJ2G.
    PhylomeDBi Q68DC2.
    TreeFami TF328552.

    Miscellaneous databases

    GenomeRNAii 203286.
    NextBioi 90399.
    PROi Q68DC2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q68DC2.
    Bgeei Q68DC2.
    CleanExi HS_ANKS6.
    Genevestigatori Q68DC2.

    Family and domain databases

    Gene3Di 1.10.150.50. 1 hit.
    1.25.40.20. 3 hits.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    [Graphical view ]
    Pfami PF12796. Ank_2. 3 hits.
    PF00536. SAM_1. 1 hit.
    [Graphical view ]
    PRINTSi PR01415. ANKYRIN.
    SMARTi SM00248. ANK. 9 hits.
    SM00454. SAM. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47769. SSF47769. 1 hit.
    SSF48403. SSF48403. 3 hits.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 7 hits.
    PS50105. SAM_DOMAIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat."
      Brown J.H., Bihoreau M.-T., Hoffmann S., Kranzlin B., Tychinskaya I., Obermuller N., Podlich D., Boehn S.N., Kaisaki P.J., Megel N., Danoy P., Copley R.R., Broxholme J., Witzgall R., Lathrop M., Gretz N., Gauguier D.
      J. Am. Soc. Nephrol. 16:3517-3526(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "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].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 94-871 (ISOFORM 1), VARIANT ILE-644.
      Tissue: Fetal kidney and Uterus.
    4. "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] OF 322-871 (ISOFORM 1), VARIANT ILE-644.
      Tissue: Skin.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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 T.-O., 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.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 533-871 (ISOFORM 3), VARIANT ILE-644.
      Tissue: Cerebellum.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. "Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat."
      Kaisaki P.J., Bergmann C., Brown J.H., Outeda P., Lens X.M., Peters D.J., Gretz N., Gauguier D., Bihoreau M.T.
      Eur. J. Med. Genet. 51:325-331(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TRP-222; GLN-440; SER-640; ILE-644 AND ALA-735.
    10. Cited for: VARIANTS NPHP16 PRO-312 AND GLN441ARG, FUNCTION, INTERACTION WITH INVS; NEK8 AND NPHP3, DOMAIN.

    Entry informationi

    Entry nameiANKS6_HUMAN
    AccessioniPrimary (citable) accession number: Q68DC2
    Secondary accession number(s): A0SE62
    , Q5VSL0, Q5VSL2, Q5VSL3, Q5VSL4, Q68DB8, Q6P2R2, Q8N9L6, Q96D62
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 6, 2005
    Last sequence update: December 6, 2005
    Last modified: October 1, 2014
    This is version 99 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