SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P08F94

- PKHD1_HUMAN

UniProt

P08F94 - PKHD1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Fibrocystin
Gene
PKHD1, FCYT, TIGM1
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. protein binding Source: UniProtKB
  2. receptor activity Source: UniProtKB
Complete GO annotation...

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 NF-kappaB transcription factor activity Source: UniProt
  6. negative regulation of apoptotic process Source: UniProt
  7. negative regulation of cellular component movement Source: UniProtKB
  8. negative regulation of protein kinase B signaling Source: UniProt
  9. positive regulation of cell proliferation Source: UniProt
  10. regulation of ERK1 and ERK2 cascade Source: UniProt
  11. regulation of TOR signaling Source: UniProt
  12. regulation of centrosome duplication Source: UniProtKB
  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

Membrane; Single-pass type I membrane protein Inferred. Cytoplasmcytoskeletoncilium basal body. Cell projectioncilium. Cytoplasmcytoskeletonspindle. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 38583835Extracellular Reviewed prediction
Add
BLAST
Transmembranei3859 – 387921Helical; Reviewed prediction
Add
BLAST
Topological domaini3880 – 4074195Cytoplasmic Reviewed prediction
Add
BLAST

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.8 Publications
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 – 2323 Reviewed prediction
Add
BLAST
Chaini24 – 40744051Fibrocystin
PRO_0000022062Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 2 G8 domains.
Contains 12 IPT/TIG domains.
Contains 9 PbH1 repeats.

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
VAR_036231
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 varianti1870 – 18701L → V.3 Publications
Corresponds to variant rs2435322 [ dbSNP | Ensembl ].
VAR_018556
Natural varianti1875 – 18751V → G in ARPKD. 1 Publication
VAR_066429
Natural varianti1917 – 19171Q → R in ARPKD. 2 Publications