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P08F94

- PKHD1_HUMAN

UniProt

P08F94 - PKHD1_HUMAN

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Protein

Fibrocystin

Gene

PKHD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. 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
Complete GO annotation...

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
Complete GO annotation...

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

GeneTreeiENSGT00530000062974.
HOGENOMiHOG000115555.
InParanoidiP08F94.
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.

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        10         20         30         40         50
MTAWLISLMS IEVLLLAVRH LSLHIEPEEG SLAGGTWITV IFDGLELGVL
60 70 80 90 100
YPNNGSQLEI HLVNVNMVVP ALRSVPCDVF PVFLDLPVVT CRTRSVLSEA
110 120 130 140 150
HEGLYFLEAY FGGQLVSSPN PGPRDSCTFK FSKAQTPIVH QVYPPSGVPG
160 170 180 190 200
KLIHVYGWII TGRLETFDFD AEYIDSPVIL EAQGDKWVTP CSLINRQMGS
210 220 230 240 250
CYPIQEDHGL GTLQCHVEGD YIGSQNVSFS VFNKGKSMVH KKAWLISAKQ
260 270 280 290 300
DLFLYQTHSE ILSVFPETGS LGGRTNITIT GDFFDNSAQV TIAGIPCDIR
310 320 330 340 350
HVSPRKIECT TRAPGKDVRL TTPQPGNRGL LFEVGDAVEG LELTEATPGY
360 370 380 390 400
RWQIVPNASS PFGFWSQEGQ PFRARLSGFF VAPETNNYTF WIQADSQASL
410 420 430 440 450
HFSWSEEPRT KVKVASISVG TADWFDSWEQ NRDEGTWQQK TPKLELLGGA
460 470 480 490 500
MYYLEAEHHG IAPSRGMRIG VQIHNTWLNP DVVTTYLREK HQIRVRAQRL
510 520 530 540 550
PEVQVLNVSG RGNFFLTWDN VSSQPIPANA TAHLIQTTIE ELLAVKCKLE
560 570 580 590 600
PLWSNILLRL GFERGPEVSN SDGDLTSGTE PFCGRFSLRQ PRHLVLTPPA
610 620 630 640 650
AQKGYRLDQY THLCLAYKGH MNKILKMIVS FTIGFQNMVK NTTCDWSLTR
660 670 680 690 700
TSPESWQFDC TDLWETCVRC FGDLQPPPAN SPVLVHQINL LPLAQETGLF
710 720 730 740 750
YVDEIIIADT NVTVSQADSG TARPGGNLVE SVSVVGSPPV YSVTSWLAGC
760 770 780 790 800
GTELPLITAR SVPTEGTEEG SGLVLVTTQR RQRTSPPLGG HFRIQLPNTV
810 820 830 840 850
ISDVPVQISA HHLHQLLQNN ADDFTSRYLN ASDFTVKEDL YTCYEHVWTL
860 870 880 890 900
SWSTQIGDLP NFIRVSDENL TGVNPAAATR VVYDGGVFLG PIFGDMLATA
910 920 930 940 950
NQHTQVVVRV NDVPAHCPGS CSFQYLQGST PCVHSVWYSI DGDINLMIYI
960 970 980 990 1000
TGTGFSGDSQ FLQVTVNKTS CKVIFSNQTN VVCQTDLLPV GMHRILMLVR
1010 1020 1030 1040 1050
PSGLAISATG EDLFLNVKPR LDMVEPSRAA DIGGLWATIR GSSLEGVSLI
1060 1070 1080 1090 1100
LFGSYSCAIN VATSNSSRIQ CKVPPRGKDG RIVNVTVIRG DYSAVLPRAF
1110 1120 1130 1140 1150
TYVSSLNPVI VTLSRNISNI AGGETLVIGV ARLMNYTDLD VEVHVQDALA
1160 1170 1180 1190 1200
PVHTQSAWGL EVALPPLPAG LHRISVSING VSIHSQGVDL HIQYLTEVFS
1210 1220 1230 1240 1250
IEPCCGSLLG GTILSISGIG FSRDPALVWV LVGNRSCDIV NLTEASIWCE
1260 1270 1280 1290 1300
TLPAPQIPDA GAPTVPAAVE VWAGNRFFAR GPSPSLVGKG FTFMYEAAAT
1310 1320 1330 1340 1350
PVVTAMQGEI TNSSLSLHVG GSNLSNSVIL LGNLNCDVET QSFQGNVSLS
1360 1370 1380 1390 1400
GCSIPLHSLE AGIYPLQVRQ KQMGFANMSV VLQQFAVMPR IMAIFPSQGS
1410 1420 1430 1440 1450
ACGGTILTVR GLLLNSRRRS VRVDLSGPFT CVILSLGDHT ILCQVSLEGD
1460 1470 1480 1490 1500
PLPGASFSLN VTVLVNGLTS ECQGNCTLFI REEASPVMDA LSTNTSGSLT
1510 1520 1530 1540 1550
TVLIRGQRLA TTADEPMVFV DDQLPCNVTF FNASHVVCQT RDLAPGPHYL
1560 1570 1580 1590 1600
SVFYTRNGYA CSGNVSRHFY IMPQVFHYFP KNFSLHGGSL LTIEGTGLRG
1610 1620 1630 1640 1650
QNTTSVYIDQ QTCLTVNIGA ELIRCIVPTG NGSVALEIEV DGLWYHIGVI
1660 1670 1680 1690 1700
GYNKAFTPEL ISISQSDDIL TFAVAQISGA ANIDIFIGMS PCVGVSGNHT
1710 1720 1730 1740 1750
VLQCVVPSLP AGEYHVRGYD CIRGWASSAL VFTSRVIITA VTENFGCLGG
1760 1770 1780 1790 1800
RLVHVFGAGF SPGNVSAAVC GAPCRVLANA TVSAFSCLVL PLDVSLAFLC
1810 1820 1830 1840 1850
GLKREEDSCE AARHTYVQCD LTVAMATEQL LESWPYLYIC EESSQCLFVP
1860 1870 1880 1890 1900
DHWAESMFPS FSGLFISPKL ERDEVLIYNS SCNITMETEA EMECETPNQP
1910 1920 1930 1940 1950
ITVKITEIRK RWGQNTQGNF SLQFCRRWSR THSWFPERLP QDGDNVTVEN
1960 1970 1980 1990 2000
GQLLLLDTNT SILNLLHIKG GKLIFMAPGP IELRAHAILV SDGGELRIGS
2010 2020 2030 2040 2050
EDKPFQGRAQ ITLYGSSYST PFFPYGVKFL AVRNGTLSLH GSLPEVIVTC
2060 2070 2080 2090 2100
LRATAHALDT VLALEDAVDW NPGDEVVIIS GTGVKGAKPM EEIVTVETVQ
2110 2120 2130 2140 2150
DTDLYLKSPL RYSHNFTENW VAGEHHILKA TVALLSRSIT IQGNLTNERE
2160 2170 2180 2190 2200
KLLVSCQEAN APEGNLQHCL YSMSEKMLGS RDMGARVIVQ SFPEEPSQVQ
2210 2220 2230 2240 2250
LKGVQFQVLG QAFHKHLSSL TLVGAMRESF IQGCTVRNSF SRGLSMCGTL
2260 2270 2280 2290 2300
GLKVDSNVFY NILGHALLVG TCTEMRYISW EAIHGRKDDW SGHGNIIRNN
2310 2320 2330 2340 2350
VIIQVSGAEG LSNPEMLTPS GIYICSPTNV IEGNRVCGAG YGYFFHLMTN
2360 2370 2380 2390 2400
QTSQAPLLSF TQNIAHSCTR YGLFVYPKFQ PPWDNVTGTT LFQSFTVWES
2410 2420 2430 2440 2450
AGGAQIFRSS NLRLKNFKVY SCRDFGIDVL ESDANTSVTD SLLLGHFAHK
2460 2470 2480 2490 2500
GSLCMSSGIK TPKRWELMVS NTTFVNFDLI NCVAIRTCSD CSQGQGGFTV
2510 2520 2530 2540 2550
KTSQLKFTNS SNLVAFPFPH AAILEDLDGS LSGKNRSHIL ASMETLSASC
2560 2570 2580 2590 2600
LVNSSFGRVV HGSACGGGVL FHRMSIGLAN TPEVSYDLTM TDSRNKTTTV
2610 2620 2630 2640 2650
NYVRDTLSNP RGWMALLLDQ ETYSLQSENL WINRSLQYSA TFDNFAPGNY
2660 2670 2680 2690 2700
LLLVHTDLPP YPDILLRCGS RVGLSFPFLP SPGQNQGCDW FFNSQLRQLT
2710 2720 2730 2740 2750
YLVSGEGQVQ VILRVKEGMP PTISASTSAP ESALKWSLPE TWQGVEEGWG
2760 2770 2780 2790 2800
GYNNTIPGPG DDVLILPNRT VLVDTDLPFF KGLYVMGTLD FPVDRSNVLS
2810 2820 2830 2840 2850
VACMVIAGGE LKVGTLENPL EKEQKLLILL RASEGVFCDR MNGIHIDPGT
2860 2870 2880 2890 2900
IGVYGKVHLY SAYPKNSWTH LGADIASGNE RIIVEDAVDW RPHDKIVLSS
2910 2920 2930 2940 2950
SSYEPHEAEV LTVKEVKGHH VRIYERLKHR HIGSVHVTED GRHIRLAAEV
2960 2970 2980 2990 3000
GLLTRNIQIQ PDVSCRGRLF VGSFRKSSRE EFSGVLQLLN VEIQNFGSPL
3010 3020 3030 3040 3050
YSSVEFSNVS AGSWIISSTL HQSCGGGIHA AASHGVLLND NIVFGTAGHG
3060 3070 3080 3090 3100
IDLEGQAYTV TNNLVVLMTQ PAWSTIWVAG IKVNQVKDIN LHGNVVAGSE
3110 3120 3130 3140 3150
RLGFHIRGHK CSSCELLWSD NVAHSSLHGL HLYKESGLDN CTRISGFLAF
3160 3170 3180 3190 3200
KNFDYGAMLH VENSVEIENI TLVDNTIGLL AVVYVFSAPQ NSVKKVQIVL
3210 3220 3230 3240 3250
RNSVIVATSS SFDCIQDKVK PHSANLTSTD RAPSNPRGGR IGILWPVFTS
3260 3270 3280 3290 3300
EPNQWPQEPW HKVRNDHSIS GIMKLQDVTF SSFVKSCYSD DLDVCILPNA
3310 3320 3330 3340 3350
ENSGIMHPIT AERTRMLKIK DKNKFYFPSL QPRKDLGKVV CPELDCASPR
3360 3370 3380 3390 3400
KYLFKDLDGR ALGLPPPVSV FPKTEAEWTA SFFNAGTFRE EQKCTYQFLM
3410 3420 3430 3440 3450
QGFICKQTDQ VVLILDSADA IWAIQKLYPV VSVTSGFVDV FSSVNANIPC
3460 3470 3480 3490 3500
STSGSVSTFY SILPIRQITK VCFMDQTPQV LRFFLLGNKS TSKLLLAVFY
3510 3520 3530 3540 3550
HELQSPHVFL GESFIPPTLV QSASLLLNES IGANYFNIMD NLLYVVLQGE
3560 3570 3580 3590 3600
EPIEIRSGVS IHLALTVMVS VLEKGWEIVI LERLTNFLQI GQNQIRFIHE
3610 3620 3630 3640 3650
MPGHEETLKA IADSRAKRKR NCPTVTCTSH YRRVGQRRPL MMEMNSHRAS
3660 3670 3680 3690 3700
PPMTVETISK VIVIEIGDSP TVRSTGMISS LSSNKLQNLA HRVITAQQTG
3710 3720 3730 3740 3750
VLENVLNMTI GALLVTQSKG VIGYGNTSSF KTGNLIYIRP YALSILVQPS
3760 3770 3780 3790 3800
DGEVGNELPV QPQLVFLDEQ NRRVESLGPP SEPWTISASL EGASDSVLKG
3810 3820 3830 3840 3850
CTQAETQDGY VSFYNLAVLI SGSNWHFIFT VTSPPGVNFT ARSKPFAVLP
3860 3870 3880 3890 3900
VTRKEKSTII LAASLSSVAS WLALSCLVCC WLKRSKSRKT KPEEIPESQT
3910 3920 3930 3940 3950
NNQNIHIHIS SKRRESQGPK KEDTVVGEDM RMKVMLGKVN QCPHQLMNGV
3960 3970 3980 3990 4000
SRRKVSRHIV REEEAAVPAP GTTGITSHGH ICAPGAPAQQ VYLQETGNWK
4010 4020 4030 4040 4050
EGQEQLLRYQ LAGQNQLLLL CPDFRQERQQ LPGQSRLSKQ SGSLGLSQEK
4060 4070
KASCGATEAF CLHSVHPETI QEQL
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