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Protein

Fibrocystin

Gene

PKHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • receptor activity Source: UniProtKB

GO - Biological processi

  • cellular calcium ion homeostasis Source: UniProtKB
  • cilium assembly Source: UniProtKB
  • homeostatic process Source: UniProtKB
  • kidney development Source: UniProtKB
  • negative regulation of apoptotic process Source: UniProtKB
  • negative regulation of cellular component movement Source: UniProtKB
  • negative regulation of NF-kappaB transcription factor activity Source: UniProtKB
  • negative regulation of protein kinase B signaling Source: UniProtKB
  • positive regulation of cell proliferation Source: UniProtKB
  • regulation of centrosome duplication Source: UniProtKB
  • regulation of ERK1 and ERK2 cascade Source: UniProtKB
  • regulation of TOR signaling Source: UniProtKB
  • 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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:9016. PKHD1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 3858ExtracellularSequence analysisAdd BLAST3835
Transmembranei3859 – 3879HelicalSequence analysisAdd BLAST21
Topological domaini3880 – 4074CytoplasmicSequence analysisAdd BLAST195

GO - Cellular componenti

  • anchored component of external side of plasma membrane Source: UniProtKB
  • apical plasma membrane Source: UniProtKB
  • centrosome Source: UniProtKB
  • chromosome, centromeric region Source: UniProtKB-SubCell
  • ciliary basal body Source: UniProtKB
  • cilium Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • mitotic spindle Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Centromere, Chromosome, Cilium, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Polycystic kidney disease, autosomal recessive (ARPKD)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:263200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01852017A → V in ARPKD. 1 PublicationCorresponds to variant rs755654557dbSNPEnsembl.1
Natural variantiVAR_03622819R → H in a colorectal cancer sample and ARPKD; somatic mutation; unknown pathological significance. 2 Publications1
Natural variantiVAR_01403936T → M in ARPKD; common mutation. 7 PublicationsCorresponds to variant rs28939383dbSNPEnsembl.1
Natural variantiVAR_06641692R → W in ARPKD. 1 PublicationCorresponds to variant rs370277502dbSNPEnsembl.1
Natural variantiVAR_075540218E → K in ARPKD; unknown pathological significance. 1 PublicationCorresponds to variant rs149522482dbSNPEnsembl.1
Natural variantiVAR_014040222I → V in ARPKD. 4 PublicationsCorresponds to variant rs369925690dbSNPEnsembl.1
Natural variantiVAR_018522223G → S in ARPKD. 1 PublicationCorresponds to variant rs749454235dbSNPEnsembl.1
Natural variantiVAR_066417246I → T in ARPKD. 1 Publication1
Natural variantiVAR_014041253F → L in ARPKD. 2 PublicationsCorresponds to variant rs775254013dbSNPEnsembl.1
Natural variantiVAR_066418255Y → C in ARPKD. 1 Publication1
Natural variantiVAR_066420293A → V in ARPKD. 1 PublicationCorresponds to variant rs398124499dbSNPEnsembl.1
Natural variantiVAR_018523307I → T in ARPKD. 1 Publication1
Natural variantiVAR_018524326G → V in ARPKD. 1 PublicationCorresponds to variant rs778329699dbSNPEnsembl.1
Natural variantiVAR_027439372F → L in ARPKD. 1 Publication1
Natural variantiVAR_018525387Missing in ARPKD. 1 Publication1
Natural variantiVAR_066421466G → E in ARPKD. 1 Publication1
Natural variantiVAR_066422470G → V in ARPKD. 1 PublicationCorresponds to variant rs776845008dbSNPEnsembl.1
Natural variantiVAR_018527473I → S in ARPKD. 1 Publication1
Natural variantiVAR_018528486Y → H in ARPKD. 1 Publication1
Natural variantiVAR_018530496R → P in ARPKD. 1 Publication1
Natural variantiVAR_066423539I → T in ARPKD. 1 PublicationCorresponds to variant rs749730748dbSNPEnsembl.1
Natural variantiVAR_018531579T → M in ARPKD; unknown pathological significance. 2 PublicationsCorresponds to variant rs45500692dbSNPEnsembl.1
Natural variantiVAR_018532656W → C in ARPKD. 1 Publication1
Natural variantiVAR_066424686H → P in ARPKD. 1 Publication1
Natural variantiVAR_018533703D → N in ARPKD. 1 Publication1
Natural variantiVAR_066426724P → R in ARPKD. 1 Publication1
Natural variantiVAR_018535739P → L in ARPKD. 1 PublicationCorresponds to variant rs758352210dbSNPEnsembl.1
Natural variantiVAR_018536757I → L in ARPKD. 1 PublicationCorresponds to variant rs777183511dbSNPEnsembl.1
Natural variantiVAR_014044760R → H in ARPKD. 2 PublicationsCorresponds to variant rs745770404dbSNPEnsembl.1
Natural variantiVAR_018537805P → L in ARPKD. 3 PublicationsCorresponds to variant rs199531851dbSNPEnsembl.1
Natural variantiVAR_018538830N → S in ARPKD. 3 PublicationsCorresponds to variant rs62406032dbSNPEnsembl.1
Natural variantiVAR_018539899T → P in ARPKD. 1 Publication1
Natural variantiVAR_018540997M → K in ARPKD. 1 Publication1
Natural variantiVAR_0185411030A → E in ARPKD. 1 Publication1
Natural variantiVAR_0140461122G → S in ARPKD. 2 Publications1
Natural variantiVAR_0185421123G → S in ARPKD. 2 PublicationsCorresponds to variant rs142107837dbSNPEnsembl.1
Natural variantiVAR_0140481249C → W in ARPKD. 2 PublicationsCorresponds to variant rs748540413dbSNPEnsembl.1
Natural variantiVAR_0185461389P → T in ARPKD. 1 Publication1
Natural variantiVAR_0140501407L → R in ARPKD. 2 Publications1
Natural variantiVAR_0185471472C → Y in ARPKD. 1 Publication1
Natural variantiVAR_0185481486P → L in ARPKD. 1 Publication1
Natural variantiVAR_0185491584S → I in ARPKD. 1 Publication1
Natural variantiVAR_0140511624R → W in ARPKD; unknown pathological significance. 4 PublicationsCorresponds to variant rs200391019dbSNPEnsembl.1
Natural variantiVAR_0140521664S → F in ARPKD. 2 PublicationsCorresponds to variant rs28937907dbSNPEnsembl.1
Natural variantiVAR_0140531741V → M in ARPKD. 3 PublicationsCorresponds to variant rs28939099dbSNPEnsembl.1
Natural variantiVAR_0185511781T → I in ARPKD. 1 Publication1
Natural variantiVAR_0185521789V → L in ARPKD. 1 Publication1
Natural variantiVAR_0664281817V → G in ARPKD. 1 Publication1
Natural variantiVAR_0185531833S → L in ARPKD. 1 PublicationCorresponds to variant rs201105958dbSNPEnsembl.1
Natural variantiVAR_0185541838Y → C in ARPKD. 1 PublicationCorresponds to variant rs777999875dbSNPEnsembl.1
Natural variantiVAR_0185551867S → N in ARPKD. 1 Publication1
Natural variantiVAR_0664291875V → G in ARPKD. 1 PublicationCorresponds to variant rs202016058dbSNPEnsembl.1
Natural variantiVAR_0140541917Q → R in ARPKD. 2 Publications1
Natural variantiVAR_0664301928W → L in ARPKD. 1 Publication1
Natural variantiVAR_0185571942D → G in ARPKD. 2 Publications1
Natural variantiVAR_0185581971G → D in ARPKD. 1 PublicationCorresponds to variant rs180675584dbSNPEnsembl.1
Natural variantiVAR_0140551995E → G in ARPKD. 2 Publications1
Natural variantiVAR_0185591998I → T in ARPKD. 1 Publication1
Natural variantiVAR_0664312009A → T in ARPKD. 1 PublicationCorresponds to variant rs761786260dbSNPEnsembl.1
Natural variantiVAR_0185602032V → L in ARPKD. 1 Publication1
Natural variantiVAR_0664322106L → R in ARPKD. 1 Publication1
Natural variantiVAR_0185612134L → P in ARPKD. 1 Publication1
Natural variantiVAR_0664332210G → E in ARPKD. 1 Publication1
Natural variantiVAR_0664342219S → L in ARPKD. 1 Publication1
Natural variantiVAR_0664352224G → R in ARPKD; may affect splicing. 1 PublicationCorresponds to variant rs759687904dbSNPEnsembl.1
Natural variantiVAR_0185622303I → F in ARPKD. 1 PublicationCorresponds to variant rs751084512dbSNPEnsembl.1
Natural variantiVAR_0140562331I → K in ARPKD. 2 PublicationsCorresponds to variant rs200179145dbSNPEnsembl.1
Natural variantiVAR_0185632422C → G in ARPKD. 1 PublicationCorresponds to variant rs201881567dbSNPEnsembl.1
Natural variantiVAR_0664362422C → R in ARPKD. 1 PublicationCorresponds to variant rs201881567dbSNPEnsembl.1
Natural variantiVAR_0664372431E → V in ARPKD; may affect splicing. 1 Publication1
Natural variantiVAR_0664382573R → C in ARPKD. 1 PublicationCorresponds to variant rs752994816dbSNPEnsembl.1
Natural variantiVAR_0185652641T → A in ARPKD. 1 PublicationCorresponds to variant rs7766366dbSNPEnsembl.1
Natural variantiVAR_0185662688C → F in ARPKD. 1 Publication1
Natural variantiVAR_0185672761D → Y in ARPKD. 1 Publication1
Natural variantiVAR_0185682772L → P in ARPKD. 1 Publication1
Natural variantiVAR_0664402798V → G in ARPKD. 1 Publication1
Natural variantiVAR_0664412803C → R in ARPKD. 1 PublicationCorresponds to variant rs398124495dbSNPEnsembl.1
Natural variantiVAR_0664422804M → K in ARPKD. 1 PublicationCorresponds to variant rs794727759dbSNPEnsembl.1
Natural variantiVAR_0185692861S → G in ARPKD. 1 PublicationCorresponds to variant rs150925674dbSNPEnsembl.1
Natural variantiVAR_0185702863Y → C in ARPKD. 1 Publication1
Natural variantiVAR_0185712869T → K in ARPKD. 4 PublicationsCorresponds to variant rs142522748dbSNPEnsembl.1
Natural variantiVAR_0140582957I → T in ARPKD. 7 PublicationsCorresponds to variant rs760222236dbSNPEnsembl.1
Natural variantiVAR_0185722962D → G in ARPKD. 1 Publication1
Natural variantiVAR_0185732983S → L in ARPKD. 1 PublicationCorresponds to variant rs141169758dbSNPEnsembl.1
Natural variantiVAR_0140593018S → F in ARPKD. 2 PublicationsCorresponds to variant rs137852945dbSNPEnsembl.1
Natural variantiVAR_0185743036V → G in ARPKD. 1 Publication1
Natural variantiVAR_0664433049H → R in ARPKD. 1 PublicationCorresponds to variant rs367678592dbSNPEnsembl.1
Natural variantiVAR_0185763081I → V in ARPKD. 1 PublicationCorresponds to variant rs142146981dbSNPEnsembl.1
Natural variantiVAR_0185793124H → Y in ARPKD. 2 Publications1
Natural variantiVAR_0185813167I → L in ARPKD. 1 Publication1
Natural variantiVAR_0185823175N → D in ARPKD. 1 Publication1
Natural variantiVAR_0185833175N → S in ARPKD. 1 Publication1
Natural variantiVAR_0185843177I → T in ARPKD. 3 PublicationsCorresponds to variant rs200511261dbSNPEnsembl.1
Natural variantiVAR_0664443207A → T in ARPKD. 1 Publication1
Natural variantiVAR_0185853289S → I in ARPKD; unknown pathological significance. 1 PublicationCorresponds to variant rs148932323dbSNPEnsembl.1
Natural variantiVAR_0185863293D → V in ARPKD. 2 Publications1
Natural variantiVAR_0185873346C → R in ARPKD. 1 PublicationCorresponds to variant rs149798764dbSNPEnsembl.1
Natural variantiVAR_0185893468I → V in ARPKD. 1 PublicationCorresponds to variant rs748863662dbSNPEnsembl.1
Natural variantiVAR_0185903471V → G in ARPKD. 1 PublicationCorresponds to variant rs137852950dbSNPEnsembl.1
Natural variantiVAR_0185913482R → C in ARPKD. 2 PublicationsCorresponds to variant rs148617572dbSNPEnsembl.1
Natural variantiVAR_0185923502E → V in ARPKD. 1 Publication1
Natural variantiVAR_0185943529E → Q in ARPKD. 1 PublicationCorresponds to variant rs145184792dbSNPEnsembl.1
Natural variantiVAR_0140613553I → T in ARPKD. 2 PublicationsCorresponds to variant rs137852948dbSNPEnsembl.1
Natural variantiVAR_0185963622C → Y in ARPKD. 1 Publication1
Natural variantiVAR_0185973783P → S in ARPKD. 1 Publication1
Natural variantiVAR_0664463957R → C in ARPKD. 1 PublicationCorresponds to variant rs146680689dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi5314.
MalaCardsiPKHD1.
MIMi263200. phenotype.
OpenTargetsiENSG00000170927.
Orphaneti731. Autosomal recessive polycystic kidney disease.
PharmGKBiPA33348.

Polymorphism and mutation databases

BioMutaiPKHD1.
DMDMi296439717.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000002206224 – 4074FibrocystinAdd BLAST4051

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi54N-linked (GlcNAc...)Sequence analysis1
Glycosylationi226N-linked (GlcNAc...)Sequence analysis1
Glycosylationi276N-linked (GlcNAc...)Sequence analysis1
Glycosylationi357N-linked (GlcNAc...)Sequence analysis1
Glycosylationi387N-linked (GlcNAc...)Sequence analysis1
Glycosylationi507N-linked (GlcNAc...)Sequence analysis1
Glycosylationi520N-linked (GlcNAc...)Sequence analysis1
Glycosylationi529N-linked (GlcNAc...)Sequence analysis1
Glycosylationi641N-linked (GlcNAc...)Sequence analysis1
Glycosylationi711N-linked (GlcNAc...)Sequence analysis1
Glycosylationi830N-linked (GlcNAc...)Sequence analysis1
Glycosylationi869N-linked (GlcNAc...)Sequence analysis1
Glycosylationi967N-linked (GlcNAc...)Sequence analysis1
Glycosylationi977N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1065N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1084N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1116N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1135N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1234N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1241N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1312N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1323N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1346N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1377N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1460N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1475N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1494N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1527N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1532N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1564N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1582N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1602N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1631N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1698N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1764N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1779N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1879N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1883N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1919N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1945N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1959N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2034N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2115N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2144N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2350N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2385N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2435N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2471N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2509N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2535N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2553N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2595N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2633N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2753N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2768N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3008N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3140N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3169N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3225N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3488N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3528N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3707N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3726N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3838N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiP08F94.
PaxDbiP08F94.
PeptideAtlasiP08F94.
PRIDEiP08F94.

PTM databases

iPTMnetiP08F94.
PhosphoSitePlusiP08F94.

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

BgeeiENSG00000170927.
GenevisibleiP08F94. HS.

Organism-specific databases

HPAiHPA031227.

Interactioni

Protein-protein interaction databases

BioGridi111331. 1 interactor.
STRINGi9606.ENSP00000360158.

Structurei

3D structure databases

ProteinModelPortaliP08F94.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 111IPT/TIG 1; atypicalAdd BLAST88
Domaini137 – 232IPT/TIG 2Add BLAST96
Domaini259 – 335IPT/TIG 3Add BLAST77
Domaini931 – 1015IPT/TIG 4Add BLAST85
Domaini1019 – 1103IPT/TIG 5Add BLAST85
Domaini1108 – 1192IPT/TIG 6; atypicalAdd BLAST85
Domaini1196 – 1289IPT/TIG 7Add BLAST94
Domaini1301 – 1382IPT/TIG 8; atypicalAdd BLAST82
Domaini1389 – 1481IPT/TIG 9Add BLAST93
Domaini1486 – 1570IPT/TIG 10Add BLAST85
Domaini1573 – 1659IPT/TIG 11Add BLAST87
Domaini1658 – 1742IPT/TIG 12; atypicalAdd BLAST85
Domaini1932 – 2053G8 1PROSITE-ProRule annotationAdd BLAST122
Repeati2226 – 2248PbH1 1Add BLAST23
Repeati2249 – 2271PbH1 2Add BLAST23
Repeati2292 – 2325PbH1 3Add BLAST34
Repeati2326 – 2347PbH1 4Add BLAST22
Repeati2409 – 2431PbH1 5Add BLAST23
Repeati2469 – 2502PbH1 6Add BLAST34
Domaini2747 – 2873G8 2PROSITE-ProRule annotationAdd BLAST127
Repeati3010 – 3032PbH1 7Add BLAST23
Repeati3033 – 3055PbH1 8Add BLAST23
Repeati3086 – 3108PbH1 9Add BLAST23

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

eggNOGiENOG410IEIF. Eukaryota.
ENOG410XQ01. LUCA.
GeneTreeiENSGT00780000121902.
HOGENOMiHOG000115555.
InParanoidiP08F94.
KOiK19865.
OMAiSERLGFH.
OrthoDBiEOG091G00JT.
PhylomeDBiP08F94.
TreeFamiTF329582.

Family and domain databases

Gene3Di2.160.20.10. 3 hits.
2.60.40.10. 10 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:SF299. PTHR11915:SF299. 1 hit.
PfamiPF10162. G8. 2 hits.
PF01833. TIG. 7 hits.
[Graphical view]
SMARTiSM01225. G8. 2 hits.
SM00429. 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. AlignAdd to basket

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

        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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01852017A → V in ARPKD. 1 PublicationCorresponds to variant rs755654557dbSNPEnsembl.1
Natural variantiVAR_03622819R → H in a colorectal cancer sample and ARPKD; somatic mutation; unknown pathological significance. 2 Publications1
Natural variantiVAR_01852125I → V.1 Publication1
Natural variantiVAR_01403936T → M in ARPKD; common mutation. 7 PublicationsCorresponds to variant rs28939383dbSNPEnsembl.1
Natural variantiVAR_06641692R → W in ARPKD. 1 PublicationCorresponds to variant rs370277502dbSNPEnsembl.1
Natural variantiVAR_075540218E → K in ARPKD; unknown pathological significance. 1 PublicationCorresponds to variant rs149522482dbSNPEnsembl.1
Natural variantiVAR_014040222I → V in ARPKD. 4 PublicationsCorresponds to variant rs369925690dbSNPEnsembl.1
Natural variantiVAR_018522223G → S in ARPKD. 1 PublicationCorresponds to variant rs749454235dbSNPEnsembl.1
Natural variantiVAR_066417246I → T in ARPKD. 1 Publication1
Natural variantiVAR_014041253F → L in ARPKD. 2 PublicationsCorresponds to variant rs775254013dbSNPEnsembl.1
Natural variantiVAR_066418255Y → C in ARPKD. 1 Publication1
Natural variantiVAR_066419292I → V in a patient with polycystic kidney disease. 1 PublicationCorresponds to variant rs367590965dbSNPEnsembl.1
Natural variantiVAR_066420293A → V in ARPKD. 1 PublicationCorresponds to variant rs398124499dbSNPEnsembl.1
Natural variantiVAR_018523307I → T in ARPKD. 1 Publication1
Natural variantiVAR_018524326G → V in ARPKD. 1 PublicationCorresponds to variant rs778329699dbSNPEnsembl.1
Natural variantiVAR_027439372F → L in ARPKD. 1 Publication1
Natural variantiVAR_018525387Missing in ARPKD. 1 Publication1
Natural variantiVAR_018526457E → D.1 Publication1
Natural variantiVAR_066421466G → E in ARPKD. 1 Publication1
Natural variantiVAR_066422470G → V in ARPKD. 1 PublicationCorresponds to variant rs776845008dbSNPEnsembl.1
Natural variantiVAR_018527473I → S in ARPKD. 1 Publication1
Natural variantiVAR_018528486Y → H in ARPKD. 1 Publication1
Natural variantiVAR_018529488R → P.1
Natural variantiVAR_018530496R → P in ARPKD. 1 Publication1
Natural variantiVAR_066423539I → T in ARPKD. 1 PublicationCorresponds to variant rs749730748dbSNPEnsembl.1
Natural variantiVAR_018531579T → M in ARPKD; unknown pathological significance. 2 PublicationsCorresponds to variant rs45500692dbSNPEnsembl.1
Natural variantiVAR_018532656W → C in ARPKD. 1 Publication1
Natural variantiVAR_066424686H → P in ARPKD. 1 Publication1
Natural variantiVAR_018533703D → N in ARPKD. 1 Publication1
Natural variantiVAR_066425723R → C.1 PublicationCorresponds to variant rs794727366dbSNPEnsembl.1
Natural variantiVAR_066426724P → R in ARPKD. 1 Publication1
Natural variantiVAR_018534732V → F.1 PublicationCorresponds to variant rs201432731dbSNPEnsembl.1
Natural variantiVAR_018535739P → L in ARPKD. 1 PublicationCorresponds to variant rs758352210dbSNPEnsembl.1
Natural variantiVAR_014042752T → M.1 PublicationCorresponds to variant rs200654041dbSNPEnsembl.1
Natural variantiVAR_018536757I → L in ARPKD. 1 PublicationCorresponds to variant rs777183511dbSNPEnsembl.1
Natural variantiVAR_014043760R → C.3 PublicationsCorresponds to variant rs9370096dbSNPEnsembl.1
Natural variantiVAR_014044760R → H in ARPKD. 2 PublicationsCorresponds to variant rs745770404dbSNPEnsembl.1
Natural variantiVAR_051282760R → W.Corresponds to variant rs9370096dbSNPEnsembl.1
Natural variantiVAR_018537805P → L in ARPKD. 3 PublicationsCorresponds to variant rs199531851dbSNPEnsembl.1
Natural variantiVAR_018538830N → S in ARPKD. 3 PublicationsCorresponds to variant rs62406032dbSNPEnsembl.1
Natural variantiVAR_014045852W → R.1 Publication1
Natural variantiVAR_018539899T → P in ARPKD. 1 Publication1
Natural variantiVAR_018540997M → K in ARPKD. 1 Publication1
Natural variantiVAR_0185411030A → E in ARPKD. 1 Publication1
Natural variantiVAR_0362291081R → C in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs200986136dbSNPEnsembl.1
Natural variantiVAR_0362301096L → R in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0140461122G → S in ARPKD. 2 Publications1