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P08F94

- PKHD1_HUMAN

UniProt

P08F94 - PKHD1_HUMAN

Protein

Fibrocystin

Gene

PKHD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 44 (01 Oct 2014)
      Sequence version 1 (18 May 2010)
      Previous versions | rss
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    Functioni

    May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. receptor activity Source: UniProtKB

    GO - Biological processi

    1. cellular calcium ion homeostasis Source: UniProt
    2. cilium assembly Source: UniProtKB
    3. homeostatic process Source: UniProtKB
    4. kidney development Source: UniProtKB
    5. negative regulation of apoptotic process Source: UniProt
    6. negative regulation of cellular component movement Source: UniProtKB
    7. negative regulation of NF-kappaB transcription factor activity Source: UniProt
    8. negative regulation of protein kinase B signaling Source: UniProt
    9. positive regulation of cell proliferation Source: UniProt
    10. regulation of centrosome duplication Source: UniProtKB
    11. regulation of ERK1 and ERK2 cascade Source: UniProt
    12. regulation of TOR signaling Source: UniProt
    13. single organismal cell-cell adhesion Source: UniProtKB

    Keywords - Molecular functioni

    Receptor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fibrocystin
    Alternative name(s):
    Polycystic kidney and hepatic disease 1 protein
    Polyductin
    Tigmin
    Gene namesi
    Name:PKHD1
    Synonyms:FCYT, TIGM1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:9016. PKHD1.

    Subcellular locationi

    GO - Cellular componenti

    1. anchored component of external side of plasma membrane Source: UniProtKB
    2. apical plasma membrane Source: UniProtKB
    3. centrosome Source: UniProtKB
    4. ciliary basal body Source: UniProtKB
    5. cytoplasm Source: UniProt
    6. extracellular vesicular exosome Source: UniProt
    7. integral component of membrane Source: UniProtKB-KW
    8. mitotic spindle Source: UniProtKB
    9. perinuclear region of cytoplasm Source: UniProt
    10. primary cilium Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]: A severe form of polycystic kidney disease affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171A → V in ARPKD. 1 Publication
    VAR_018520
    Natural varianti36 – 361T → M in ARPKD; common mutation. 6 Publications
    Corresponds to variant rs28939383 [ dbSNP | Ensembl ].
    VAR_014039
    Natural varianti92 – 921R → W in ARPKD. 1 Publication
    VAR_066416
    Natural varianti222 – 2221I → V in ARPKD. 3 Publications
    VAR_014040
    Natural varianti223 – 2231G → S in ARPKD. 1 Publication
    VAR_018522
    Natural varianti246 – 2461I → T in ARPKD. 1 Publication
    VAR_066417
    Natural varianti253 – 2531F → L in ARPKD. 2 Publications
    VAR_014041
    Natural varianti255 – 2551Y → C in ARPKD. 1 Publication
    VAR_066418
    Natural varianti293 – 2931A → V in ARPKD. 1 Publication
    VAR_066420
    Natural varianti307 – 3071I → T in ARPKD. 1 Publication
    VAR_018523
    Natural varianti326 – 3261G → V in ARPKD. 1 Publication
    VAR_018524
    Natural varianti372 – 3721F → L in ARPKD. 1 Publication
    VAR_027439
    Natural varianti387 – 3871Missing in ARPKD. 1 Publication
    VAR_018525
    Natural varianti466 – 4661G → E in ARPKD. 1 Publication
    VAR_066421
    Natural varianti470 – 4701G → V in ARPKD. 1 Publication
    VAR_066422
    Natural varianti473 – 4731I → S in ARPKD. 1 Publication
    VAR_018527
    Natural varianti486 – 4861Y → H in ARPKD. 1 Publication
    VAR_018528
    Natural varianti496 – 4961R → P in ARPKD. 1 Publication
    VAR_018530
    Natural varianti539 – 5391I → T in ARPKD. 1 Publication
    VAR_066423
    Natural varianti656 – 6561W → C in ARPKD. 1 Publication
    VAR_018532
    Natural varianti686 – 6861H → P in ARPKD. 1 Publication
    VAR_066424
    Natural varianti703 – 7031D → N in ARPKD. 1 Publication
    VAR_018533
    Natural varianti724 – 7241P → R in ARPKD. 1 Publication
    VAR_066426
    Natural varianti739 – 7391P → L in ARPKD. 1 Publication
    VAR_018535
    Natural varianti757 – 7571I → L in ARPKD. 1 Publication
    VAR_018536
    Natural varianti760 – 7601R → H in ARPKD. 2 Publications
    VAR_014044
    Natural varianti805 – 8051P → L in ARPKD. 3 Publications
    VAR_018537
    Natural varianti899 – 8991T → P in ARPKD. 1 Publication
    VAR_018539
    Natural varianti997 – 9971M → K in ARPKD. 1 Publication
    VAR_018540
    Natural varianti1030 – 10301A → E in ARPKD. 1 Publication
    VAR_018541
    Natural varianti1122 – 11221G → S in ARPKD. 2 Publications
    VAR_014046
    Natural varianti1123 – 11231G → S in ARPKD. 2 Publications
    VAR_018542
    Natural varianti1249 – 12491C → W in ARPKD. 2 Publications
    VAR_014048
    Natural varianti1389 – 13891P → T in ARPKD. 1 Publication
    VAR_018546
    Natural varianti1407 – 14071L → R in ARPKD. 2 Publications
    VAR_014050
    Natural varianti1472 – 14721C → Y in ARPKD. 1 Publication
    VAR_018547
    Natural varianti1486 – 14861P → L in ARPKD. 1 Publication
    VAR_018548
    Natural varianti1584 – 15841S → I in ARPKD. 1 Publication
    VAR_018549
    Natural varianti1624 – 16241R → W in ARPKD. 3 Publications
    VAR_014051
    Natural varianti1664 – 16641S → F in ARPKD. 2 Publications
    Corresponds to variant rs28937907 [ dbSNP | Ensembl ].
    VAR_014052
    Natural varianti1741 – 17411V → M in ARPKD. 3 Publications
    Corresponds to variant rs28939099 [ dbSNP | Ensembl ].
    VAR_014053
    Natural varianti1781 – 17811T → I in ARPKD. 1 Publication
    VAR_018551
    Natural varianti1789 – 17891V → L in ARPKD. 1 Publication
    VAR_018552
    Natural varianti1817 – 18171V → G in ARPKD. 1 Publication
    VAR_066428
    Natural varianti1833 – 18331S → L in ARPKD. 1 Publication
    VAR_018553
    Natural varianti1838 – 18381Y → C in ARPKD. 1 Publication
    VAR_018554
    Natural varianti1867 – 18671S → N in ARPKD. 1 Publication
    VAR_018555
    Natural varianti1875 – 18751V → G in ARPKD. 1 Publication
    VAR_066429
    Natural varianti1917 – 19171Q → R in ARPKD. 2 Publications
    VAR_014054
    Natural varianti1928 – 19281W → L in ARPKD. 1 Publication
    VAR_066430
    Natural varianti1942 – 19421D → G in ARPKD. 2 Publications
    VAR_018557
    Natural varianti1971 – 19711G → D in ARPKD. 1 Publication
    Corresponds to variant rs180675584 [ dbSNP | Ensembl ].
    VAR_018558
    Natural varianti1995 – 19951E → G in ARPKD. 2 Publications
    VAR_014055
    Natural varianti1998 – 19981I → T in ARPKD. 1 Publication
    VAR_018559
    Natural varianti2009 – 20091A → T in ARPKD. 1 Publication
    VAR_066431
    Natural varianti2032 – 20321V → L in ARPKD. 1 Publication
    VAR_018560
    Natural varianti2106 – 21061L → R in ARPKD. 1 Publication
    VAR_066432
    Natural varianti2134 – 21341L → P in ARPKD. 1 Publication
    VAR_018561
    Natural varianti2210 – 22101G → E in ARPKD. 1 Publication
    VAR_066433
    Natural varianti2219 – 22191S → L in ARPKD. 1 Publication
    VAR_066434
    Natural varianti2224 – 22241G → R in ARPKD; may affect splicing. 1 Publication
    VAR_066435
    Natural varianti2303 – 23031I → F in ARPKD. 1 Publication
    VAR_018562
    Natural varianti2331 – 23311I → K in ARPKD. 2 Publications
    VAR_014056
    Natural varianti2422 – 24221C → G in ARPKD. 1 Publication
    VAR_018563
    Natural varianti2422 – 24221C → R in ARPKD. 1 Publication
    VAR_066436
    Natural varianti2431 – 24311E → V in ARPKD; may affect splicing. 1 Publication
    VAR_066437
    Natural varianti2573 – 25731R → C in ARPKD. 1 Publication
    VAR_066438
    Natural varianti2641 – 26411T → A in ARPKD. 1 Publication
    Corresponds to variant rs7766366 [ dbSNP | Ensembl ].
    VAR_018565
    Natural varianti2688 – 26881C → F in ARPKD. 1 Publication
    VAR_018566
    Natural varianti2761 – 27611D → Y in ARPKD. 1 Publication
    VAR_018567
    Natural varianti2772 – 27721L → P in ARPKD. 1 Publication
    VAR_018568
    Natural varianti2798 – 27981V → G in ARPKD. 1 Publication
    VAR_066440
    Natural varianti2803 – 28031C → R in ARPKD. 1 Publication
    VAR_066441
    Natural varianti2804 – 28041M → K in ARPKD. 1 Publication
    VAR_066442
    Natural varianti2861 – 28611S → G in ARPKD. 1 Publication
    Corresponds to variant rs150925674 [ dbSNP | Ensembl ].
    VAR_018569
    Natural varianti2863 – 28631Y → C in ARPKD. 1 Publication
    VAR_018570
    Natural varianti2957 – 29571I → T in ARPKD. 6 Publications
    VAR_014058
    Natural varianti2962 – 29621D → G in ARPKD. 1 Publication
    VAR_018572
    Natural varianti2983 – 29831S → L in ARPKD. 1 Publication
    VAR_018573
    Natural varianti3018 – 30181S → F in ARPKD. 2 Publications
    VAR_014059
    Natural varianti3036 – 30361V → G in ARPKD. 1 Publication
    VAR_018574
    Natural varianti3049 – 30491H → R in ARPKD. 1 Publication
    VAR_066443
    Natural varianti3081 – 30811I → V in ARPKD. 1 Publication
    VAR_018576
    Natural varianti3124 – 31241H → Y in ARPKD. 2 Publications
    VAR_018579
    Natural varianti3167 – 31671I → L in ARPKD. 1 Publication
    VAR_018581
    Natural varianti3175 – 31751N → D in ARPKD. 1 Publication
    VAR_018582
    Natural varianti3175 – 31751N → S in ARPKD. 1 Publication
    VAR_018583
    Natural varianti3177 – 31771I → T in ARPKD. 3 Publications
    VAR_018584
    Natural varianti3207 – 32071A → T in ARPKD. 1 Publication
    VAR_066444
    Natural varianti3293 – 32931D → V in ARPKD. 2 Publications
    VAR_018586
    Natural varianti3346 – 33461C → R in ARPKD. 1 Publication
    VAR_018587
    Natural varianti3468 – 34681I → V in ARPKD. 1 Publication
    VAR_018589
    Natural varianti3471 – 34711V → G in ARPKD. 1 Publication
    VAR_018590
    Natural varianti3482 – 34821R → C in ARPKD. 2 Publications
    VAR_018591
    Natural varianti3502 – 35021E → V in ARPKD. 1 Publication
    VAR_018592
    Natural varianti3529 – 35291E → Q in ARPKD. 1 Publication
    Corresponds to variant rs145184792 [ dbSNP | Ensembl ].
    VAR_018594
    Natural varianti3553 – 35531I → T in ARPKD. 2 Publications
    VAR_014061
    Natural varianti3622 – 36221C → Y in ARPKD. 1 Publication
    VAR_018596
    Natural varianti3783 – 37831P → S in ARPKD. 1 Publication
    VAR_018597
    Natural varianti3957 – 39571R → C in ARPKD. 1 Publication
    Corresponds to variant rs146680689 [ dbSNP | Ensembl ].
    VAR_066446

    Keywords - Diseasei

    Ciliopathy, Disease mutation

    Organism-specific databases

    MIMi263200. phenotype.
    Orphaneti731. Autosomal recessive polycystic kidney disease.
    PharmGKBiPA33348.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Sequence AnalysisAdd
    BLAST
    Chaini24 – 40744051FibrocystinPRO_0000022062Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi54 – 541N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi226 – 2261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi276 – 2761N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi357 – 3571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi387 – 3871N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi507 – 5071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi520 – 5201N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi529 – 5291N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi641 – 6411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi711 – 7111N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi830 – 8301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi869 – 8691N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi967 – 9671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi977 – 9771N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1065 – 10651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1084 – 10841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1116 – 11161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1135 – 11351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1234 – 12341N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1241 – 12411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1312 – 13121N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1323 – 13231N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1346 – 13461N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1377 – 13771N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1460 – 14601N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1475 – 14751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1494 – 14941N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1527 – 15271N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1532 – 15321N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1564 – 15641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1582 – 15821N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1602 – 16021N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1631 – 16311N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1698 – 16981N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1764 – 17641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1779 – 17791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1879 – 18791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1883 – 18831N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1919 – 19191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1945 – 19451N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1959 – 19591N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2034 – 20341N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2115 – 21151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2144 – 21441N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2350 – 23501N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2385 – 23851N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2435 – 24351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2471 – 24711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2509 – 25091N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2535 – 25351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2553 – 25531N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2595 – 25951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2633 – 26331N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2753 – 27531N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2768 – 27681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3008 – 30081N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3140 – 31401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3169 – 31691N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3225 – 32251N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3488 – 34881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3528 – 35281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3707 – 37071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3726 – 37261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3838 – 38381N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PRIDEiP08F94.

    PTM databases

    PhosphoSiteiP08F94.

    Expressioni

    Tissue specificityi

    Predominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather indistinct signal in fetal brain.2 Publications

    Gene expression databases

    BgeeiP08F94.

    Organism-specific databases

    HPAiHPA031227.

    Interactioni

    Protein-protein interaction databases

    BioGridi111331. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliP08F94.
    SMRiP08F94. Positions 2230-2269, 3014-3066.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini24 – 38583835ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini3880 – 4074195CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei3859 – 387921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini24 – 11188IPT/TIG 1; atypicalAdd
    BLAST
    Domaini137 – 23296IPT/TIG 2Add
    BLAST
    Domaini259 – 33577IPT/TIG 3Add
    BLAST
    Domaini931 – 101585IPT/TIG 4Add
    BLAST
    Domaini1019 – 110385IPT/TIG 5Add
    BLAST
    Domaini1108 – 119285IPT/TIG 6; atypicalAdd
    BLAST
    Domaini1196 – 128994IPT/TIG 7Add
    BLAST
    Domaini1301 – 138282IPT/TIG 8; atypicalAdd
    BLAST
    Domaini1389 – 148193IPT/TIG 9Add
    BLAST
    Domaini1486 – 157085IPT/TIG 10Add
    BLAST
    Domaini1573 – 165987IPT/TIG 11Add
    BLAST
    Domaini1658 – 174285IPT/TIG 12; atypicalAdd
    BLAST
    Domaini1932 – 2053122G8 1PROSITE-ProRule annotationAdd
    BLAST
    Repeati2226 – 224823PbH1 1Add
    BLAST
    Repeati2249 – 227123PbH1 2Add
    BLAST
    Repeati2292 – 232534PbH1 3Add
    BLAST
    Repeati2326 – 234722PbH1 4Add
    BLAST
    Repeati2409 – 243123PbH1 5Add
    BLAST
    Repeati2469 – 250234PbH1 6Add
    BLAST
    Domaini2747 – 2873127G8 2PROSITE-ProRule annotationAdd
    BLAST
    Repeati3010 – 303223PbH1 7Add
    BLAST
    Repeati3033 – 305523PbH1 8Add
    BLAST
    Repeati3086 – 310823PbH1 9Add
    BLAST

    Sequence similaritiesi

    Contains 2 G8 domains.PROSITE-ProRule annotation
    Contains 12 IPT/TIG domains.Curated
    Contains 9 PbH1 repeats.Curated

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    HOGENOMiHOG000115555.
    OMAiWVAGIKV.
    OrthoDBiEOG78WKQS.
    PhylomeDBiP08F94.
    TreeFamiTF329582.

    Family and domain databases

    Gene3Di2.160.20.10. 3 hits.
    2.60.40.10. 7 hits.
    InterProiIPR019316. G8_domain.
    IPR013783. Ig-like_fold.
    IPR014756. Ig_E-set.
    IPR002909. IPT.
    IPR006626. PbH1.
    IPR012334. Pectin_lyas_fold.
    IPR011050. Pectin_lyase_fold/virulence.
    IPR028839. PKHD1.
    [Graphical view]
    PANTHERiPTHR11915:SF230. PTHR11915:SF230. 1 hit.
    PfamiPF10162. G8. 2 hits.
    PF01833. TIG. 7 hits.
    [Graphical view]
    SMARTiSM00429. IPT. 6 hits.
    SM00710. PbH1. 10 hits.
    [Graphical view]
    SUPFAMiSSF51126. SSF51126. 3 hits.
    SSF81296. SSF81296. 6 hits.
    PROSITEiPS51484. G8. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist. As a matter of fact, alternatively spliced products seem to fall into two broad groups: one group, which includes the longest continuous ORF but which may also include molecules lacking some middle domains, has a single TM element and is likely to be associated with the plasma membrane. The other group lacks a TM domain and thus its members may be secreted.

    Isoform 1 (identifier: P08F94-1) [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

    MTAWLISLMS IEVLLLAVRH LSLHIEPEEG SLAGGTWITV IFDGLELGVL     50
    YPNNGSQLEI HLVNVNMVVP ALRSVPCDVF PVFLDLPVVT CRTRSVLSEA 100
    HEGLYFLEAY FGGQLVSSPN PGPRDSCTFK FSKAQTPIVH QVYPPSGVPG 150
    KLIHVYGWII TGRLETFDFD AEYIDSPVIL EAQGDKWVTP CSLINRQMGS 200
    CYPIQEDHGL GTLQCHVEGD YIGSQNVSFS VFNKGKSMVH KKAWLISAKQ 250
    DLFLYQTHSE ILSVFPETGS LGGRTNITIT GDFFDNSAQV TIAGIPCDIR 300
    HVSPRKIECT TRAPGKDVRL TTPQPGNRGL LFEVGDAVEG LELTEATPGY 350
    RWQIVPNASS PFGFWSQEGQ PFRARLSGFF VAPETNNYTF WIQADSQASL 400
    HFSWSEEPRT KVKVASISVG TADWFDSWEQ NRDEGTWQQK TPKLELLGGA 450
    MYYLEAEHHG IAPSRGMRIG VQIHNTWLNP DVVTTYLREK HQIRVRAQRL 500
    PEVQVLNVSG RGNFFLTWDN VSSQPIPANA TAHLIQTTIE ELLAVKCKLE 550
    PLWSNILLRL GFERGPEVSN SDGDLTSGTE PFCGRFSLRQ PRHLVLTPPA 600
    AQKGYRLDQY THLCLAYKGH MNKILKMIVS FTIGFQNMVK NTTCDWSLTR 650
    TSPESWQFDC TDLWETCVRC FGDLQPPPAN SPVLVHQINL LPLAQETGLF 700
    YVDEIIIADT NVTVSQADSG TARPGGNLVE SVSVVGSPPV YSVTSWLAGC 750
    GTELPLITAR SVPTEGTEEG SGLVLVTTQR RQRTSPPLGG HFRIQLPNTV 800
    ISDVPVQISA HHLHQLLQNN ADDFTSRYLN ASDFTVKEDL YTCYEHVWTL 850
    SWSTQIGDLP NFIRVSDENL TGVNPAAATR VVYDGGVFLG PIFGDMLATA 900
    NQHTQVVVRV NDVPAHCPGS CSFQYLQGST PCVHSVWYSI DGDINLMIYI 950
    TGTGFSGDSQ FLQVTVNKTS CKVIFSNQTN VVCQTDLLPV GMHRILMLVR 1000
    PSGLAISATG EDLFLNVKPR LDMVEPSRAA DIGGLWATIR GSSLEGVSLI 1050
    LFGSYSCAIN VATSNSSRIQ CKVPPRGKDG RIVNVTVIRG DYSAVLPRAF 1100
    TYVSSLNPVI VTLSRNISNI AGGETLVIGV ARLMNYTDLD VEVHVQDALA 1150
    PVHTQSAWGL EVALPPLPAG LHRISVSING VSIHSQGVDL HIQYLTEVFS 1200
    IEPCCGSLLG GTILSISGIG FSRDPALVWV LVGNRSCDIV NLTEASIWCE 1250
    TLPAPQIPDA GAPTVPAAVE VWAGNRFFAR GPSPSLVGKG FTFMYEAAAT 1300
    PVVTAMQGEI TNSSLSLHVG GSNLSNSVIL LGNLNCDVET QSFQGNVSLS 1350
    GCSIPLHSLE AGIYPLQVRQ KQMGFANMSV VLQQFAVMPR IMAIFPSQGS 1400
    ACGGTILTVR GLLLNSRRRS VRVDLSGPFT CVILSLGDHT ILCQVSLEGD 1450
    PLPGASFSLN VTVLVNGLTS ECQGNCTLFI REEASPVMDA LSTNTSGSLT 1500
    TVLIRGQRLA TTADEPMVFV DDQLPCNVTF FNASHVVCQT RDLAPGPHYL 1550
    SVFYTRNGYA CSGNVSRHFY IMPQVFHYFP KNFSLHGGSL LTIEGTGLRG 1600
    QNTTSVYIDQ QTCLTVNIGA ELIRCIVPTG NGSVALEIEV DGLWYHIGVI 1650
    GYNKAFTPEL ISISQSDDIL TFAVAQISGA ANIDIFIGMS PCVGVSGNHT 1700
    VLQCVVPSLP AGEYHVRGYD CIRGWASSAL VFTSRVIITA VTENFGCLGG 1750
    RLVHVFGAGF SPGNVSAAVC GAPCRVLANA TVSAFSCLVL PLDVSLAFLC 1800
    GLKREEDSCE AARHTYVQCD LTVAMATEQL LESWPYLYIC EESSQCLFVP 1850
    DHWAESMFPS FSGLFISPKL ERDEVLIYNS SCNITMETEA EMECETPNQP 1900
    ITVKITEIRK RWGQNTQGNF SLQFCRRWSR THSWFPERLP QDGDNVTVEN 1950
    GQLLLLDTNT SILNLLHIKG GKLIFMAPGP IELRAHAILV SDGGELRIGS 2000
    EDKPFQGRAQ ITLYGSSYST PFFPYGVKFL AVRNGTLSLH GSLPEVIVTC 2050
    LRATAHALDT VLALEDAVDW NPGDEVVIIS GTGVKGAKPM EEIVTVETVQ 2100
    DTDLYLKSPL RYSHNFTENW VAGEHHILKA TVALLSRSIT IQGNLTNERE 2150
    KLLVSCQEAN APEGNLQHCL YSMSEKMLGS RDMGARVIVQ SFPEEPSQVQ 2200
    LKGVQFQVLG QAFHKHLSSL TLVGAMRESF IQGCTVRNSF SRGLSMCGTL 2250
    GLKVDSNVFY NILGHALLVG TCTEMRYISW EAIHGRKDDW SGHGNIIRNN 2300
    VIIQVSGAEG LSNPEMLTPS GIYICSPTNV IEGNRVCGAG YGYFFHLMTN 2350
    QTSQAPLLSF TQNIAHSCTR YGLFVYPKFQ PPWDNVTGTT LFQSFTVWES 2400
    AGGAQIFRSS NLRLKNFKVY SCRDFGIDVL ESDANTSVTD SLLLGHFAHK 2450
    GSLCMSSGIK TPKRWELMVS NTTFVNFDLI NCVAIRTCSD CSQGQGGFTV 2500
    KTSQLKFTNS SNLVAFPFPH AAILEDLDGS LSGKNRSHIL ASMETLSASC 2550
    LVNSSFGRVV HGSACGGGVL FHRMSIGLAN TPEVSYDLTM TDSRNKTTTV 2600
    NYVRDTLSNP RGWMALLLDQ ETYSLQSENL WINRSLQYSA TFDNFAPGNY 2650
    LLLVHTDLPP YPDILLRCGS RVGLSFPFLP SPGQNQGCDW FFNSQLRQLT 2700
    YLVSGEGQVQ VILRVKEGMP PTISASTSAP ESALKWSLPE TWQGVEEGWG 2750
    GYNNTIPGPG DDVLILPNRT VLVDTDLPFF KGLYVMGTLD FPVDRSNVLS 2800
    VACMVIAGGE LKVGTLENPL EKEQKLLILL RASEGVFCDR MNGIHIDPGT 2850
    IGVYGKVHLY SAYPKNSWTH LGADIASGNE RIIVEDAVDW RPHDKIVLSS 2900
    SSYEPHEAEV LTVKEVKGHH VRIYERLKHR HIGSVHVTED GRHIRLAAEV 2950
    GLLTRNIQIQ PDVSCRGRLF VGSFRKSSRE EFSGVLQLLN VEIQNFGSPL 3000
    YSSVEFSNVS AGSWIISSTL HQSCGGGIHA AASHGVLLND NIVFGTAGHG 3050
    IDLEGQAYTV TNNLVVLMTQ PAWSTIWVAG IKVNQVKDIN LHGNVVAGSE 3100
    RLGFHIRGHK CSSCELLWSD NVAHSSLHGL HLYKESGLDN CTRISGFLAF 3150
    KNFDYGAMLH VENSVEIENI TLVDNTIGLL AVVYVFSAPQ NSVKKVQIVL 3200
    RNSVIVATSS SFDCIQDKVK PHSANLTSTD RAPSNPRGGR IGILWPVFTS 3250
    EPNQWPQEPW HKVRNDHSIS GIMKLQDVTF SSFVKSCYSD DLDVCILPNA 3300
    ENSGIMHPIT AERTRMLKIK DKNKFYFPSL QPRKDLGKVV CPELDCASPR 3350
    KYLFKDLDGR ALGLPPPVSV FPKTEAEWTA SFFNAGTFRE EQKCTYQFLM 3400
    QGFICKQTDQ VVLILDSADA IWAIQKLYPV VSVTSGFVDV FSSVNANIPC 3450
    STSGSVSTFY SILPIRQITK VCFMDQTPQV LRFFLLGNKS TSKLLLAVFY 3500
    HELQSPHVFL GESFIPPTLV QSASLLLNES IGANYFNIMD NLLYVVLQGE 3550
    EPIEIRSGVS IHLALTVMVS VLEKGWEIVI LERLTNFLQI GQNQIRFIHE 3600
    MPGHEETLKA IADSRAKRKR NCPTVTCTSH YRRVGQRRPL MMEMNSHRAS 3650
    PPMTVETISK VIVIEIGDSP TVRSTGMISS LSSNKLQNLA HRVITAQQTG 3700
    VLENVLNMTI GALLVTQSKG VIGYGNTSSF KTGNLIYIRP YALSILVQPS 3750
    DGEVGNELPV QPQLVFLDEQ NRRVESLGPP SEPWTISASL EGASDSVLKG 3800
    CTQAETQDGY VSFYNLAVLI SGSNWHFIFT VTSPPGVNFT ARSKPFAVLP 3850
    VTRKEKSTII LAASLSSVAS WLALSCLVCC WLKRSKSRKT KPEEIPESQT 3900
    NNQNIHIHIS SKRRESQGPK KEDTVVGEDM RMKVMLGKVN QCPHQLMNGV 3950
    SRRKVSRHIV REEEAAVPAP GTTGITSHGH ICAPGAPAQQ VYLQETGNWK 4000
    EGQEQLLRYQ LAGQNQLLLL CPDFRQERQQ LPGQSRLSKQ SGSLGLSQEK 4050
    KASCGATEAF CLHSVHPETI QEQL 4074
    Length:4,074
    Mass (Da):446,702
    Last modified:May 18, 2010 - v1
    Checksum:i719AA72F1203EDE1
    GO
    Isoform 2 (identifier: P08F94-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3386-3396: GTFREEQKCTY → VTTEQALKISE
         3397-4074: Missing.

    Show »
    Length:3,396
    Mass (Da):371,654
    Checksum:iCED8655BAA11B05F
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171A → V in ARPKD. 1 Publication
    VAR_018520
    Natural varianti19 – 191R → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036228
    Natural varianti25 – 251I → V.1 Publication
    VAR_018521
    Natural varianti36 – 361T → M in ARPKD; common mutation. 6 Publications
    Corresponds to variant rs28939383 [ dbSNP | Ensembl ].
    VAR_014039
    Natural varianti92 – 921R → W in ARPKD. 1 Publication
    VAR_066416
    Natural varianti222 – 2221I → V in ARPKD. 3 Publications
    VAR_014040
    Natural varianti223 – 2231G → S in ARPKD. 1 Publication
    VAR_018522
    Natural varianti246 – 2461I → T in ARPKD. 1 Publication
    VAR_066417
    Natural varianti253 – 2531F → L in ARPKD. 2 Publications
    VAR_014041
    Natural varianti255 – 2551Y → C in ARPKD. 1 Publication
    VAR_066418
    Natural varianti292 – 2921I → V in a patient with polycystic kidney disease. 1 Publication
    VAR_066419
    Natural varianti293 – 2931A → V in ARPKD. 1 Publication
    VAR_066420
    Natural varianti307 – 3071I → T in ARPKD. 1 Publication
    VAR_018523
    Natural varianti326 – 3261G → V in ARPKD. 1 Publication
    VAR_018524
    Natural varianti372 – 3721F → L in ARPKD. 1 Publication
    VAR_027439
    Natural varianti387 – 3871Missing in ARPKD. 1 Publication
    VAR_018525
    Natural varianti457 – 4571E → D.1 Publication
    VAR_018526
    Natural varianti466 – 4661G → E in ARPKD. 1 Publication
    VAR_066421
    Natural varianti470 – 4701G → V in ARPKD. 1 Publication
    VAR_066422
    Natural varianti473 – 4731I → S in ARPKD. 1 Publication
    VAR_018527
    Natural varianti486 – 4861Y → H in ARPKD. 1 Publication
    VAR_018528
    Natural varianti488 – 4881R → P.
    VAR_018529
    Natural varianti496 – 4961R → P in ARPKD. 1 Publication
    VAR_018530
    Natural varianti539 – 5391I → T in ARPKD. 1 Publication
    VAR_066423
    Natural varianti579 – 5791T → M.1 Publication
    Corresponds to variant rs45500692 [ dbSNP | Ensembl ].
    VAR_018531
    Natural varianti656 – 6561W → C in ARPKD. 1 Publication
    VAR_018532
    Natural varianti686 – 6861H → P in ARPKD. 1 Publication
    VAR_066424
    Natural varianti703 – 7031D → N in ARPKD. 1 Publication
    VAR_018533
    Natural varianti723 – 7231R → C.1 Publication
    VAR_066425
    Natural varianti724 – 7241P → R in ARPKD. 1 Publication
    VAR_066426
    Natural varianti732 – 7321V → F.1 Publication
    Corresponds to variant rs201432731 [ dbSNP | Ensembl ].
    VAR_018534
    Natural varianti739 – 7391P → L in ARPKD. 1 Publication
    VAR_018535
    Natural varianti752 – 7521T → M.1 Publication
    VAR_014042
    Natural varianti757 – 7571I → L in ARPKD. 1 Publication
    VAR_018536
    Natural varianti760 – 7601R → C.3 Publications
    Corresponds to variant rs9370096 [ dbSNP | Ensembl ].
    VAR_014043
    Natural varianti760 – 7601R → H in ARPKD. 2 Publications
    VAR_014044
    Natural varianti760 – 7601R → W.
    Corresponds to variant rs9370096 [ dbSNP | Ensembl ].
    VAR_051282
    Natural varianti805 – 8051P → L in ARPKD. 3 Publications
    VAR_018537
    Natural varianti830 – 8301N → S.2 Publications
    VAR_018538
    Natural varianti852 – 8521W → R.1 Publication
    VAR_014045
    Natural varianti899 – 8991T → P in ARPKD. 1 Publication
    VAR_018539
    Natural varianti997 – 9971M → K in ARPKD. 1 Publication
    VAR_018540
    Natural varianti1030 – 10301A → E in ARPKD. 1 Publication
    VAR_018541
    Natural varianti1081 – 10811R → C in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036229
    Natural varianti1096 – 10961L → R in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036230
    Natural varianti1122 – 11221G → S in ARPKD. 2 Publications
    VAR_014046
    Natural varianti1123 – 11231G → S in ARPKD. 2 Publications
    VAR_018542
    Natural varianti1136 – 11361Y → C.
    Corresponds to variant rs41273726 [ dbSNP | Ensembl ].
    VAR_018543
    Natural varianti1150 – 11501A → P.1 Publication
    VAR_018544
    Natural varianti1204 – 12041C → Y.1 Publication
    VAR_014047
    Natural varianti1249 – 12491C → W in ARPKD. 2 Publications
    VAR_014048
    Natural varianti1262 – 12621A → V.2 Publications
    Corresponds to variant rs9296669 [ dbSNP | Ensembl ].
    VAR_014049
    Natural varianti1283 – 12831S → L.1 Publication
    VAR_018545
    Natural varianti1389 – 13891P → T in ARPKD. 1 Publication
    VAR_018546
    Natural varianti1407 – 14071L → R in ARPKD. 2 Publications
    VAR_014050
    Natural varianti1472 – 14721C → Y in ARPKD. 1 Publication
    VAR_018547
    Natural varianti1486 – 14861P → L in ARPKD. 1 Publication
    VAR_018548
    Natural varianti1584 – 15841S → I in ARPKD. 1 Publication
    VAR_018549
    Natural varianti1624 – 16241R → W in ARPKD. 3 Publications
    VAR_014051
    Natural varianti1664 – 16641S → F in ARPKD. 2 Publications
    Corresponds to variant rs28937907 [ dbSNP | Ensembl ].
    VAR_014052
    Natural varianti1709 – 17091L → F.2 Publications
    Corresponds to variant rs45517932 [ dbSNP | Ensembl ].
    VAR_018550
    Natural varianti1712 – 17121G → R in a patient with polycystic kidney disease. 1 Publication
    Corresponds to variant rs141103838 [ dbSNP | Ensembl ].
    VAR_066427
    Natural varianti1741 – 17411V → M in ARPKD. 3 Publications
    Corresponds to variant rs28939099 [ dbSNP | Ensembl ].
    VAR_014053
    Natural varianti1781 – 17811T → I in ARPKD. 1 Publication
    VAR_018551
    Natural varianti1789 – 17891V → L in ARPKD. 1 Publication
    VAR_018552
    Natural varianti1806 – 18061E → K in a colorectal cancer sample; somatic mutation. 1 Publication