Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P08F94 (PKHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 42. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fibrocystin
Alternative name(s):
Polycystic kidney and hepatic disease 1 protein
Polyductin
Tigmin
Gene names
Name:PKHD1
Synonyms:FCYT, TIGM1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4074 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.9

Subcellular location

Membrane; Single-pass type I membrane protein Probable. Cytoplasmcytoskeletoncilium basal body. Cell projectioncilium. Cytoplasmcytoskeletonspindle. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome Ref.7 Ref.8 Ref.9.

Tissue specificity

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. Ref.7 Ref.8

Involvement in disease

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. Ref.1 Ref.2 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.16

Sequence similarities

Contains 2 G8 domains.

Contains 12 IPT/TIG domains.

Contains 9 PbH1 repeats.

Ontologies

Keywords
   Cellular componentCell projection
Cilium
Cytoplasm
Cytoskeleton
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Disease mutation
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   Molecular functionReceptor
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular calcium ion homeostasis

Inferred from mutant phenotype PubMed 17669261. Source: UniProt

cilium assembly

Inferred from sequence or structural similarity. Source: UniProtKB

homeostatic process

Non-traceable author statement Ref.1. Source: UniProtKB

kidney development

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of NF-kappaB transcription factor activity

Inferred from mutant phenotype PubMed 21300060. Source: UniProt

negative regulation of apoptotic process

Inferred from mutant phenotype PubMed 19943112PubMed 21300060. Source: UniProt

negative regulation of cellular component movement

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of protein kinase B signaling

Inferred from mutant phenotype PubMed 21300060. Source: UniProt

positive regulation of cell proliferation

Inferred from mutant phenotype PubMed 19943112. Source: UniProt

regulation of ERK1 and ERK2 cascade

Inferred from mutant phenotype PubMed 17669261. Source: UniProt

regulation of TOR signaling

Inferred from mutant phenotype PubMed 19524688. Source: UniProt

regulation of centrosome duplication

Inferred from mutant phenotype Ref.9. Source: UniProtKB

single organismal cell-cell adhesion

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentanchored component of external side of plasma membrane

Traceable author statement Ref.1. Source: UniProtKB

apical plasma membrane

Inferred from direct assay PubMed 16243292. Source: UniProtKB

centrosome

Inferred from direct assay Ref.9. Source: UniProtKB

ciliary basal body

Inferred from direct assay Ref.7PubMed 14983006. Source: UniProtKB

cytoplasm

Inferred from direct assay PubMed 20709014. Source: UniProt

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitotic spindle

Inferred from direct assay Ref.9. Source: UniProtKB

perinuclear region of cytoplasm

Inferred from direct assay PubMed 20709014. Source: UniProt

primary cilium

Inferred from direct assay PubMed 115458427. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 16243292. Source: UniProtKB

receptor activity

Non-traceable author statement Ref.1. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

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)

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.
Isoform 2 (identifier: P08F94-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Chain24 – 40744051Fibrocystin
PRO_0000022062

Regions

Topological domain24 – 38583835Extracellular Potential
Transmembrane3859 – 387921Helical; Potential
Topological domain3880 – 4074195Cytoplasmic Potential
Domain24 – 11188IPT/TIG 1; atypical
Domain137 – 23296IPT/TIG 2
Domain259 – 33577IPT/TIG 3
Domain931 – 101585IPT/TIG 4
Domain1019 – 110385IPT/TIG 5
Domain1108 – 119285IPT/TIG 6; atypical
Domain1196 – 128994IPT/TIG 7
Domain1301 – 138282IPT/TIG 8; atypical
Domain1389 – 148193IPT/TIG 9
Domain1486 – 157085IPT/TIG 10
Domain1573 – 165987IPT/TIG 11
Domain1658 – 174285IPT/TIG 12; atypical
Domain1932 – 2053122G8 1
Repeat2226 – 224823PbH1 1
Repeat2249 – 227123PbH1 2
Repeat2292 – 232534PbH1 3
Repeat2326 – 234722PbH1 4
Repeat2409 – 243123PbH1 5
Repeat2469 – 250234PbH1 6
Domain2747 – 2873127G8 2
Repeat3010 – 303223PbH1 7
Repeat3033 – 305523PbH1 8
Repeat3086 – 310823PbH1 9

Amino acid modifications

Glycosylation541N-linked (GlcNAc...) Potential
Glycosylation2261N-linked (GlcNAc...) Potential
Glycosylation2761N-linked (GlcNAc...) Potential
Glycosylation3571N-linked (GlcNAc...) Potential
Glycosylation3871N-linked (GlcNAc...) Potential
Glycosylation5071N-linked (GlcNAc...) Potential
Glycosylation5201N-linked (GlcNAc...) Potential
Glycosylation5291N-linked (GlcNAc...) Potential
Glycosylation6411N-linked (GlcNAc...) Potential
Glycosylation7111N-linked (GlcNAc...) Potential
Glycosylation8301N-linked (GlcNAc...) Potential
Glycosylation8691N-linked (GlcNAc...) Potential
Glycosylation9671N-linked (GlcNAc...) Potential
Glycosylation9771N-linked (GlcNAc...) Potential
Glycosylation10651N-linked (GlcNAc...) Potential
Glycosylation10841N-linked (GlcNAc...) Potential
Glycosylation11161N-linked (GlcNAc...) Potential
Glycosylation11351N-linked (GlcNAc...) Potential
Glycosylation12341N-linked (GlcNAc...) Potential
Glycosylation12411N-linked (GlcNAc...) Potential
Glycosylation13121N-linked (GlcNAc...) Potential
Glycosylation13231N-linked (GlcNAc...) Potential
Glycosylation13461N-linked (GlcNAc...) Potential
Glycosylation13771N-linked (GlcNAc...) Potential
Glycosylation14601N-linked (GlcNAc...) Potential
Glycosylation14751N-linked (GlcNAc...) Potential
Glycosylation14941N-linked (GlcNAc...) Potential
Glycosylation15271N-linked (GlcNAc...) Potential
Glycosylation15321N-linked (GlcNAc...) Potential
Glycosylation15641N-linked (GlcNAc...) Potential
Glycosylation15821N-linked (GlcNAc...) Potential
Glycosylation16021N-linked (GlcNAc...) Potential
Glycosylation16311N-linked (GlcNAc...) Potential
Glycosylation16981N-linked (GlcNAc...) Potential
Glycosylation17641N-linked (GlcNAc...) Potential
Glycosylation17791N-linked (GlcNAc...) Potential
Glycosylation18791N-linked (GlcNAc...) Potential
Glycosylation18831N-linked (GlcNAc...) Potential
Glycosylation19191N-linked (GlcNAc...) Potential
Glycosylation19451N-linked (GlcNAc...) Potential
Glycosylation19591N-linked (GlcNAc...) Potential
Glycosylation20341N-linked (GlcNAc...) Potential
Glycosylation21151N-linked (GlcNAc...) Potential
Glycosylation21441N-linked (GlcNAc...) Potential
Glycosylation23501N-linked (GlcNAc...) Potential
Glycosylation23851N-linked (GlcNAc...) Potential
Glycosylation24351N-linked (GlcNAc...) Potential
Glycosylation24711N-linked (GlcNAc...) Potential
Glycosylation25091N-linked (GlcNAc...) Potential
Glycosylation25351N-linked (GlcNAc...) Potential
Glycosylation25531N-linked (GlcNAc...) Potential
Glycosylation25951N-linked (GlcNAc...) Potential
Glycosylation26331N-linked (GlcNAc...) Potential
Glycosylation27531N-linked (GlcNAc...) Potential
Glycosylation27681N-linked (GlcNAc...) Potential
Glycosylation30081N-linked (GlcNAc...) Potential
Glycosylation31401N-linked (GlcNAc...) Potential
Glycosylation31691N-linked (GlcNAc...) Potential
Glycosylation32251N-linked (GlcNAc...) Potential
Glycosylation34881N-linked (GlcNAc...) Potential
Glycosylation35281N-linked (GlcNAc...) Potential
Glycosylation37071N-linked (GlcNAc...) Potential
Glycosylation37261N-linked (GlcNAc...) Potential
Glycosylation38381N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence3386 – 339611GTFREEQKCTY → VTTEQALKISE in isoform 2.
VSP_003947
Alternative sequence3397 – 4074678Missing in isoform 2.
VSP_003948
Natural variant171A → V in ARPKD. Ref.12
VAR_018520
Natural variant191R → H in a colorectal cancer sample; somatic mutation. Ref.15
VAR_036228
Natural variant251I → V. Ref.1
VAR_018521
Natural variant361T → M in ARPKD; common mutation. Ref.1 Ref.2 Ref.10 Ref.11 Ref.12 Ref.13
Corresponds to variant rs28939383 [ dbSNP | Ensembl ].
VAR_014039
Natural variant921R → W in ARPKD. Ref.16
VAR_066416
Natural variant2221I → V in ARPKD. Ref.1 Ref.2 Ref.12
VAR_014040
Natural variant2231G → S in ARPKD. Ref.10
VAR_018522
Natural variant2461I → T in ARPKD. Ref.16
VAR_066417
Natural variant2531F → L in ARPKD. Ref.2 Ref.10
VAR_014041
Natural variant2551Y → C in ARPKD. Ref.16
VAR_066418
Natural variant2921I → V in a patient with polycystic kidney disease. Ref.16
VAR_066419
Natural variant2931A → V in ARPKD. Ref.16
VAR_066420
Natural variant3071I → T in ARPKD. Ref.13
VAR_018523
Natural variant3261G → V in ARPKD. Ref.11
VAR_018524
Natural variant3721F → L in ARPKD. Ref.14
VAR_027439
Natural variant3871Missing in ARPKD. Ref.11
VAR_018525
Natural variant4571E → D. Ref.11
VAR_018526
Natural variant4661G → E in ARPKD. Ref.16
VAR_066421
Natural variant4701G → V in ARPKD. Ref.16
VAR_066422
Natural variant4731I → S in ARPKD. Ref.10
VAR_018527
Natural variant4861Y → H in ARPKD. Ref.13
VAR_018528
Natural variant4881R → P.
VAR_018529
Natural variant4961R → P in ARPKD. Ref.10
VAR_018530
Natural variant5391I → T in ARPKD. Ref.16
VAR_066423
Natural variant5791T → M. Ref.10
Corresponds to variant rs45500692 [ dbSNP | Ensembl ].
VAR_018531
Natural variant6561W → C in ARPKD. Ref.10
VAR_018532
Natural variant6861H → P in ARPKD. Ref.16
VAR_066424
Natural variant7031D → N in ARPKD. Ref.10
VAR_018533
Natural variant7231R → C. Ref.16
VAR_066425
Natural variant7241P → R in ARPKD. Ref.16
VAR_066426
Natural variant7321V → F. Ref.11
Corresponds to variant rs201432731 [ dbSNP | Ensembl ].
VAR_018534
Natural variant7391P → L in ARPKD. Ref.12
VAR_018535
Natural variant7521T → M. Ref.1
VAR_014042
Natural variant7571I → L in ARPKD. Ref.12
VAR_018536
Natural variant7601R → C. Ref.1 Ref.11 Ref.12
Corresponds to variant rs9370096 [ dbSNP | Ensembl ].
VAR_014043
Natural variant7601R → H in ARPKD. Ref.2 Ref.10
VAR_014044
Natural variant7601R → W.
Corresponds to variant rs9370096 [ dbSNP | Ensembl ].
VAR_051282
Natural variant8051P → L in ARPKD. Ref.10 Ref.12 Ref.13
VAR_018537
Natural variant8301N → S. Ref.10 Ref.12
VAR_018538
Natural variant8521W → R. Ref.1
VAR_014045
Natural variant8991T → P in ARPKD. Ref.11
VAR_018539
Natural variant9971M → K in ARPKD. Ref.10
VAR_018540
Natural variant10301A → E in ARPKD. Ref.10
VAR_018541
Natural variant10811R → C in a colorectal cancer sample; somatic mutation. Ref.15
VAR_036229
Natural variant10961L → R in a colorectal cancer sample; somatic mutation. Ref.15
VAR_036230
Natural variant11221G → S in ARPKD. Ref.2 Ref.10
VAR_014046
Natural variant11231G → S in ARPKD. Ref.10 Ref.11
VAR_018542
Natural variant11361Y → C.
Corresponds to variant rs41273726 [ dbSNP | Ensembl ].
VAR_018543
Natural variant11501A → P. Ref.11
VAR_018544
Natural variant12041C → Y. Ref.3
VAR_014047
Natural variant12491C → W in ARPKD. Ref.1 Ref.10
VAR_014048
Natural variant12621A → V. Ref.1 Ref.12
Corresponds to variant rs9296669 [ dbSNP | Ensembl ].
VAR_014049
Natural variant12831S → L. Ref.11
VAR_018545
Natural variant13891P → T in ARPKD. Ref.12
VAR_018546
Natural variant14071L → R in ARPKD. Ref.1 Ref.10
VAR_014050
Natural variant14721C → Y in ARPKD. Ref.13
VAR_018547
Natural variant14861P → L in ARPKD. Ref.10
VAR_018548
Natural variant15841S → I in ARPKD. Ref.11
VAR_018549
Natural variant16241R → W in ARPKD. Ref.2 Ref.10 Ref.15
VAR_014051
Natural variant16641S → F in ARPKD. Ref.1 Ref.10
Corresponds to variant rs28937907 [ dbSNP | Ensembl ].
VAR_014052
Natural variant17091L → F. Ref.11 Ref.12
Corresponds to variant rs45517932 [ dbSNP | Ensembl ].
VAR_018550
Natural variant17121G → R in a patient with polycystic kidney disease. Ref.16
Corresponds to variant rs141103838 [ dbSNP | Ensembl ].
VAR_066427
Natural variant17411V → M in ARPKD. Ref.1 Ref.10 Ref.12
Corresponds to variant rs28939099 [ dbSNP | Ensembl ].
VAR_014053
Natural variant17811T → I in ARPKD. Ref.11
VAR_018551
Natural variant17891V → L in ARPKD. Ref.11
VAR_018552
Natural variant18061E → K in a colorectal cancer sample; somatic mutation. Ref.15
VAR_036231
Natural variant18171V → G in ARPKD. Ref.16
VAR_066428
Natural variant18331S → L in ARPKD. Ref.12
VAR_018553
Natural variant18381Y → C in ARPKD. Ref.12
VAR_018554
Natural variant18671S → N in ARPKD. Ref.12
VAR_018555
Natural variant18701L → V. Ref.2 Ref.11 Ref.12
Corresponds to variant rs2435322 [ dbSNP | Ensembl ].
VAR_018556
Natural variant18751V → G in ARPKD. Ref.16
VAR_066429
Natural variant19171Q → R in ARPKD. Ref.1 Ref.10
VAR_014054
Natural variant19281W → L in ARPKD. Ref.16
VAR_066430
Natural variant19421D → G in ARPKD. Ref.11 Ref.12
VAR_018557
Natural variant19711G → D in ARPKD. Ref.11
Corresponds to variant rs180675584 [ dbSNP | Ensembl ].
VAR_018558
Natural variant19951E → G in ARPKD. Ref.1 Ref.10
VAR_014055
Natural variant19981I → T in ARPKD. Ref.10
VAR_018559
Natural variant20091A → T in ARPKD. Ref.16
VAR_066431
Natural variant20321V → L in ARPKD. Ref.11
VAR_018560
Natural variant21061L → R in ARPKD. Ref.16
VAR_066432
Natural variant21341L → P in ARPKD. Ref.10
VAR_018561
Natural variant22101G → E in ARPKD. Ref.16
VAR_066433
Natural variant22191S → L in ARPKD. Ref.16
VAR_066434
Natural variant22241G → R in ARPKD; may affect splicing. Ref.16
VAR_066435
Natural variant23031I → F in ARPKD. Ref.13
VAR_018562
Natural variant23311I → K in ARPKD. Ref.1 Ref.10
VAR_014056
Natural variant24221C → G in ARPKD. Ref.11
VAR_018563
Natural variant24221C → R in ARPKD. Ref.16
VAR_066436
Natural variant24311E → V in ARPKD; may affect splicing. Ref.16
VAR_066437
Natural variant25731R → C in ARPKD. Ref.16
VAR_066438
Natural variant26151A → G. Ref.11
VAR_018564
Natural variant26411T → A in ARPKD. Ref.11
Corresponds to variant rs7766366 [ dbSNP | Ensembl ].
VAR_018565
Natural variant26611Y → H in a patient with polycystic kidney disease. Ref.16
VAR_066439
Natural variant26881C → F in ARPKD. Ref.12
VAR_018566
Natural variant27611D → Y in ARPKD. Ref.10
VAR_018567
Natural variant27721L → P in ARPKD. Ref.11
VAR_018568
Natural variant27981V → G in ARPKD. Ref.16
VAR_066440
Natural variant28031C → R in ARPKD. Ref.16
VAR_066441
Natural variant28041M → K in ARPKD. Ref.16
VAR_066442
Natural variant28611S → G in ARPKD. Ref.11
Corresponds to variant rs150925674 [ dbSNP | Ensembl ].
VAR_018569
Natural variant28631Y → C in ARPKD. Ref.11
VAR_018570
Natural variant28691T → K. Ref.11 Ref.12 Ref.13
Corresponds to variant rs142522748 [ dbSNP | Ensembl ].
VAR_018571
Natural variant29381T → M. Ref.1
VAR_014057
Natural variant29571I → T in ARPKD. Ref.1 Ref.2 Ref.10 Ref.11 Ref.12 Ref.13
VAR_014058
Natural variant29621D → G in ARPKD. Ref.13
VAR_018572
Natural variant29831S → L in ARPKD. Ref.11
VAR_018573
Natural variant30181S → F in ARPKD. Ref.1 Ref.10
VAR_014059
Natural variant30361V → G in ARPKD. Ref.11
VAR_018574
Natural variant30491H → R in ARPKD. Ref.16
VAR_066443
Natural variant30521D → Y.
Corresponds to variant rs765526 [ dbSNP | Ensembl ].
VAR_027440
Natural variant30721A → V.
Corresponds to variant rs139306706 [ dbSNP | Ensembl ].
VAR_018575
Natural variant30811I → V in ARPKD. Ref.10
VAR_018576
Natural variant30881D → N.
VAR_018577
Natural variant31071R → P.
VAR_018578
Natural variant31241H → Y in ARPKD. Ref.11 Ref.13
VAR_018579
Natural variant31391D → Y. Ref.1 Ref.2 Ref.10 Ref.11 Ref.12 Ref.13
Corresponds to variant rs45503297 [ dbSNP | Ensembl ].
VAR_014060
Natural variant31431R → I. Ref.11
VAR_018580
Natural variant31671I → L in ARPKD. Ref.11
VAR_018581
Natural variant31751N → D in ARPKD. Ref.11
VAR_018582
Natural variant31751N → S in ARPKD. Ref.11
VAR_018583
Natural variant31771I → T in ARPKD. Ref.11 Ref.12 Ref.13
VAR_018584
Natural variant32071A → T in ARPKD. Ref.16
VAR_066444
Natural variant32191V → A in a patient with polycystic kidney disease. Ref.16
VAR_066445
Natural variant32891S → I.
Corresponds to variant rs148932323 [ dbSNP | Ensembl ].
VAR_018585
Natural variant32931D → V in ARPKD. Ref.10 Ref.11
VAR_018586
Natural variant33461C → R in ARPKD. Ref.12
VAR_018587
Natural variant34401V → D. Ref.11
VAR_018588
Natural variant34681I → V in ARPKD. Ref.12
VAR_018589
Natural variant34711V → G in ARPKD. Ref.10
VAR_018590
Natural variant34821R → C in ARPKD. Ref.10 Ref.13
VAR_018591
Natural variant35021E → V in ARPKD. Ref.12
VAR_018592
Natural variant35051S → R. Ref.12
Corresponds to variant rs139014478 [ dbSNP | Ensembl ].
VAR_018593
Natural variant35291E → Q in ARPKD. Ref.12
Corresponds to variant rs145184792 [ dbSNP | Ensembl ].
VAR_018594
Natural variant35511E → K. Ref.11
VAR_018595
Natural variant35531I → T in ARPKD. Ref.1 Ref.10
VAR_014061
Natural variant36221C → Y in ARPKD. Ref.12
VAR_018596
Natural variant37831P → S in ARPKD. Ref.11
VAR_018597
Natural variant38371V → I.
Corresponds to variant rs9474034 [ dbSNP | Ensembl ].
VAR_027441
Natural variant38421R → L.
Corresponds to variant rs76572975 [ dbSNP | Ensembl ].
VAR_018598
Natural variant38991Q → R. Ref.11 Ref.12
Corresponds to variant rs4715227 [ dbSNP | Ensembl ].
VAR_018599
Natural variant39051I → N.
Corresponds to variant rs2661488 [ dbSNP | Ensembl ].
VAR_027442
Natural variant39131R → H.
Corresponds to variant rs2661487 [ dbSNP | Ensembl ].
VAR_027443
Natural variant39571R → C in ARPKD. Ref.16
Corresponds to variant rs146680689 [ dbSNP | Ensembl ].
VAR_066446
Natural variant39601V → I. Ref.1 Ref.11 Ref.12
Corresponds to variant rs34548196 [ dbSNP | Ensembl ].
VAR_014062
Natural variant40481Q → R. Ref.1 Ref.12
Corresponds to variant rs9381994 [ dbSNP | Ensembl ].
VAR_014063

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 1.
Checksum: 719AA72F1203EDE1

FASTA4,074446,702
        10         20         30         40         50         60 
MTAWLISLMS IEVLLLAVRH LSLHIEPEEG SLAGGTWITV IFDGLELGVL YPNNGSQLEI 

        70         80         90        100        110        120 
HLVNVNMVVP ALRSVPCDVF PVFLDLPVVT CRTRSVLSEA HEGLYFLEAY FGGQLVSSPN 

       130        140        150        160        170        180 
PGPRDSCTFK FSKAQTPIVH QVYPPSGVPG KLIHVYGWII TGRLETFDFD AEYIDSPVIL 

       190        200        210        220        230        240 
EAQGDKWVTP CSLINRQMGS CYPIQEDHGL GTLQCHVEGD YIGSQNVSFS VFNKGKSMVH 

       250        260        270        280        290        300 
KKAWLISAKQ DLFLYQTHSE ILSVFPETGS LGGRTNITIT GDFFDNSAQV TIAGIPCDIR 

       310        320        330        340        350        360 
HVSPRKIECT TRAPGKDVRL TTPQPGNRGL LFEVGDAVEG LELTEATPGY RWQIVPNASS 

       370        380        390        400        410        420 
PFGFWSQEGQ PFRARLSGFF VAPETNNYTF WIQADSQASL HFSWSEEPRT KVKVASISVG 

       430        440        450        460        470        480 
TADWFDSWEQ NRDEGTWQQK TPKLELLGGA MYYLEAEHHG IAPSRGMRIG VQIHNTWLNP 

       490        500        510        520        530        540 
DVVTTYLREK HQIRVRAQRL PEVQVLNVSG RGNFFLTWDN VSSQPIPANA TAHLIQTTIE 

       550        560        570        580        590        600 
ELLAVKCKLE PLWSNILLRL GFERGPEVSN SDGDLTSGTE PFCGRFSLRQ PRHLVLTPPA 

       610        620        630        640        650        660 
AQKGYRLDQY THLCLAYKGH MNKILKMIVS FTIGFQNMVK NTTCDWSLTR TSPESWQFDC 

       670        680        690        700        710        720 
TDLWETCVRC FGDLQPPPAN SPVLVHQINL LPLAQETGLF YVDEIIIADT NVTVSQADSG 

       730        740        750        760        770        780 
TARPGGNLVE SVSVVGSPPV YSVTSWLAGC GTELPLITAR SVPTEGTEEG SGLVLVTTQR 

       790        800        810        820        830        840 
RQRTSPPLGG HFRIQLPNTV ISDVPVQISA HHLHQLLQNN ADDFTSRYLN ASDFTVKEDL 

       850        860        870        880        890        900 
YTCYEHVWTL SWSTQIGDLP NFIRVSDENL TGVNPAAATR VVYDGGVFLG PIFGDMLATA 

       910        920        930        940        950        960 
NQHTQVVVRV NDVPAHCPGS CSFQYLQGST PCVHSVWYSI DGDINLMIYI TGTGFSGDSQ 

       970        980        990       1000       1010       1020 
FLQVTVNKTS CKVIFSNQTN VVCQTDLLPV GMHRILMLVR PSGLAISATG EDLFLNVKPR 

      1030       1040       1050       1060       1070       1080 
LDMVEPSRAA DIGGLWATIR GSSLEGVSLI LFGSYSCAIN VATSNSSRIQ CKVPPRGKDG 

      1090       1100       1110       1120       1130       1140 
RIVNVTVIRG DYSAVLPRAF TYVSSLNPVI VTLSRNISNI AGGETLVIGV ARLMNYTDLD 

      1150       1160       1170       1180       1190       1200 
VEVHVQDALA PVHTQSAWGL EVALPPLPAG LHRISVSING VSIHSQGVDL HIQYLTEVFS 

      1210       1220       1230       1240       1250       1260 
IEPCCGSLLG GTILSISGIG FSRDPALVWV LVGNRSCDIV NLTEASIWCE TLPAPQIPDA 

      1270       1280       1290       1300       1310       1320 
GAPTVPAAVE VWAGNRFFAR GPSPSLVGKG FTFMYEAAAT PVVTAMQGEI TNSSLSLHVG 

      1330       1340       1350       1360       1370       1380 
GSNLSNSVIL LGNLNCDVET QSFQGNVSLS GCSIPLHSLE AGIYPLQVRQ KQMGFANMSV 

      1390       1400       1410       1420       1430       1440 
VLQQFAVMPR IMAIFPSQGS ACGGTILTVR GLLLNSRRRS VRVDLSGPFT CVILSLGDHT 

      1450       1460       1470       1480       1490       1500 
ILCQVSLEGD PLPGASFSLN VTVLVNGLTS ECQGNCTLFI REEASPVMDA LSTNTSGSLT 

      1510       1520       1530       1540       1550       1560 
TVLIRGQRLA TTADEPMVFV DDQLPCNVTF FNASHVVCQT RDLAPGPHYL SVFYTRNGYA 

      1570       1580       1590       1600       1610       1620 
CSGNVSRHFY IMPQVFHYFP KNFSLHGGSL LTIEGTGLRG QNTTSVYIDQ QTCLTVNIGA 

      1630       1640       1650       1660       1670       1680 
ELIRCIVPTG NGSVALEIEV DGLWYHIGVI GYNKAFTPEL ISISQSDDIL TFAVAQISGA 

      1690       1700       1710       1720       1730       1740 
ANIDIFIGMS PCVGVSGNHT VLQCVVPSLP AGEYHVRGYD CIRGWASSAL VFTSRVIITA 

      1750       1760       1770       1780       1790       1800 
VTENFGCLGG RLVHVFGAGF SPGNVSAAVC GAPCRVLANA TVSAFSCLVL PLDVSLAFLC 

      1810       1820       1830       1840       1850       1860 
GLKREEDSCE AARHTYVQCD LTVAMATEQL LESWPYLYIC EESSQCLFVP DHWAESMFPS 

      1870       1880       1890       1900       1910       1920 
FSGLFISPKL ERDEVLIYNS SCNITMETEA EMECETPNQP ITVKITEIRK RWGQNTQGNF 

      1930       1940       1950       1960       1970       1980 
SLQFCRRWSR THSWFPERLP QDGDNVTVEN GQLLLLDTNT SILNLLHIKG GKLIFMAPGP 

      1990       2000       2010       2020       2030       2040 
IELRAHAILV SDGGELRIGS EDKPFQGRAQ ITLYGSSYST PFFPYGVKFL AVRNGTLSLH 

      2050       2060       2070       2080       2090       2100 
GSLPEVIVTC LRATAHALDT VLALEDAVDW NPGDEVVIIS GTGVKGAKPM EEIVTVETVQ 

      2110       2120       2130       2140       2150       2160 
DTDLYLKSPL RYSHNFTENW VAGEHHILKA TVALLSRSIT IQGNLTNERE KLLVSCQEAN 

      2170       2180       2190       2200       2210       2220 
APEGNLQHCL YSMSEKMLGS RDMGARVIVQ SFPEEPSQVQ LKGVQFQVLG QAFHKHLSSL 

      2230       2240       2250       2260       2270       2280 
TLVGAMRESF IQGCTVRNSF SRGLSMCGTL GLKVDSNVFY NILGHALLVG TCTEMRYISW 

      2290       2300       2310       2320       2330       2340 
EAIHGRKDDW SGHGNIIRNN VIIQVSGAEG LSNPEMLTPS GIYICSPTNV IEGNRVCGAG 

      2350       2360       2370       2380       2390       2400 
YGYFFHLMTN QTSQAPLLSF TQNIAHSCTR YGLFVYPKFQ PPWDNVTGTT LFQSFTVWES 

      2410       2420       2430       2440       2450       2460 
AGGAQIFRSS NLRLKNFKVY SCRDFGIDVL ESDANTSVTD SLLLGHFAHK GSLCMSSGIK 

      2470       2480       2490       2500       2510       2520 
TPKRWELMVS NTTFVNFDLI NCVAIRTCSD CSQGQGGFTV KTSQLKFTNS SNLVAFPFPH 

      2530       2540       2550       2560       2570       2580 
AAILEDLDGS LSGKNRSHIL ASMETLSASC LVNSSFGRVV HGSACGGGVL FHRMSIGLAN 

      2590       2600       2610       2620       2630       2640 
TPEVSYDLTM TDSRNKTTTV NYVRDTLSNP RGWMALLLDQ ETYSLQSENL WINRSLQYSA 

      2650       2660       2670       2680       2690       2700 
TFDNFAPGNY LLLVHTDLPP YPDILLRCGS RVGLSFPFLP SPGQNQGCDW FFNSQLRQLT 

      2710       2720       2730       2740       2750       2760 
YLVSGEGQVQ VILRVKEGMP PTISASTSAP ESALKWSLPE TWQGVEEGWG GYNNTIPGPG 

      2770       2780       2790       2800       2810       2820 
DDVLILPNRT VLVDTDLPFF KGLYVMGTLD FPVDRSNVLS VACMVIAGGE LKVGTLENPL 

      2830       2840       2850       2860       2870       2880 
EKEQKLLILL RASEGVFCDR MNGIHIDPGT IGVYGKVHLY SAYPKNSWTH LGADIASGNE 

      2890       2900       2910       2920       2930       2940 
RIIVEDAVDW RPHDKIVLSS SSYEPHEAEV LTVKEVKGHH VRIYERLKHR HIGSVHVTED 

      2950       2960       2970       2980       2990       3000 
GRHIRLAAEV GLLTRNIQIQ PDVSCRGRLF VGSFRKSSRE EFSGVLQLLN VEIQNFGSPL 

      3010       3020       3030       3040       3050       3060 
YSSVEFSNVS AGSWIISSTL HQSCGGGIHA AASHGVLLND NIVFGTAGHG IDLEGQAYTV 

      3070       3080       3090       3100       3110       3120 
TNNLVVLMTQ PAWSTIWVAG IKVNQVKDIN LHGNVVAGSE RLGFHIRGHK CSSCELLWSD 

      3130       3140       3150       3160       3170       3180 
NVAHSSLHGL HLYKESGLDN CTRISGFLAF KNFDYGAMLH VENSVEIENI TLVDNTIGLL 

      3190       3200       3210       3220       3230       3240 
AVVYVFSAPQ NSVKKVQIVL RNSVIVATSS SFDCIQDKVK PHSANLTSTD RAPSNPRGGR 

      3250       3260       3270       3280       3290       3300 
IGILWPVFTS EPNQWPQEPW HKVRNDHSIS GIMKLQDVTF SSFVKSCYSD DLDVCILPNA 

      3310       3320       3330       3340       3350       3360 
ENSGIMHPIT AERTRMLKIK DKNKFYFPSL QPRKDLGKVV CPELDCASPR KYLFKDLDGR 

      3370       3380       3390       3400       3410       3420 
ALGLPPPVSV FPKTEAEWTA SFFNAGTFRE EQKCTYQFLM QGFICKQTDQ VVLILDSADA 

      3430       3440       3450       3460       3470       3480 
IWAIQKLYPV VSVTSGFVDV FSSVNANIPC STSGSVSTFY SILPIRQITK VCFMDQTPQV 

      3490       3500       3510       3520       3530       3540 
LRFFLLGNKS TSKLLLAVFY HELQSPHVFL GESFIPPTLV QSASLLLNES IGANYFNIMD 

      3550       3560       3570       3580       3590       3600 
NLLYVVLQGE EPIEIRSGVS IHLALTVMVS VLEKGWEIVI LERLTNFLQI GQNQIRFIHE 

      3610       3620       3630       3640       3650       3660 
MPGHEETLKA IADSRAKRKR NCPTVTCTSH YRRVGQRRPL MMEMNSHRAS PPMTVETISK 

      3670       3680       3690       3700       3710       3720 
VIVIEIGDSP TVRSTGMISS LSSNKLQNLA HRVITAQQTG VLENVLNMTI GALLVTQSKG 

      3730       3740       3750       3760       3770       3780 
VIGYGNTSSF KTGNLIYIRP YALSILVQPS DGEVGNELPV QPQLVFLDEQ NRRVESLGPP 

      3790       3800       3810       3820       3830       3840 
SEPWTISASL EGASDSVLKG CTQAETQDGY VSFYNLAVLI SGSNWHFIFT VTSPPGVNFT 

      3850       3860       3870       3880       3890       3900 
ARSKPFAVLP VTRKEKSTII LAASLSSVAS WLALSCLVCC WLKRSKSRKT KPEEIPESQT 

      3910       3920       3930       3940       3950       3960 
NNQNIHIHIS SKRRESQGPK KEDTVVGEDM RMKVMLGKVN QCPHQLMNGV SRRKVSRHIV 

      3970       3980       3990       4000       4010       4020 
REEEAAVPAP GTTGITSHGH ICAPGAPAQQ VYLQETGNWK EGQEQLLRYQ LAGQNQLLLL 

      4030       4040       4050       4060       4070 
CPDFRQERQQ LPGQSRLSKQ SGSLGLSQEK KASCGATEAF CLHSVHPETI QEQL 

« Hide

Isoform 2 [UniParc].

Checksum: CED8655BAA11B05F
Show »

FASTA3,396371,654

References

« Hide 'large scale' references
[1]"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein."
Ward C.J., Hogan M.C., Rossetti S., Walker D., Sneddon T., Wang X., Kubly V., Cunningham J.M., Bacallao R., Ishibashi M., Milliner D.S., Torres V.E., Harris P.C.
Nat. Genet. 30:259-269(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARPKD MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
Tissue: Kidney.
[2]"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats."
Onuchic L.F., Furu L., Nagasawa Y., Hou X., Eggermann T., Ren Z., Bergmann C., Senderek J., Esquivel E., Zeltner R., Rudnik-Schoeneborn S., Mrug M., Sweeney W., Avner E.D., Zerres K., Guay-Woodford L.M., Somlo S., Germino G.G.
Am. J. Hum. Genet. 70:1305-1317(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS ARPKD MET-36; VAL-222; LEU-253; HIS-760; SER-1122; TRP-1624 AND THR-2957, VARIANTS VAL-1870 AND TYR-3139.
Tissue: Kidney.
[3]"A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease."
Xiong H., Chen Y., Yi Y., Tsuchiya K., Moeckel G., Cheung J., Liang D., Tham K., Xu X., Chen X.-Z., Pei Y., Zhao Z.J., Wu G.
Genomics 80:96-104(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT TYR-1204.
Tissue: Fetal kidney.
[4]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)."
Bergmann C., Senderek J., Kuepper F., Schneider F., Dornia C., Windelen E., Eggermann T., Rudnik-Schoeneborn S., Kirfel J., Furu L., Onuchic L.F., Rossetti S., Harris P.C., Somlo S., Guay-Woodford L., Germino G.G., Moser M., Buettner R., Zerres K.
Hum. Mutat. 23:453-463(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[7]"The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area."
Wang S., Luo Y., Wilson P.D., Witman G.B., Zhou J.
J. Am. Soc. Nephrol. 15:592-602(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[8]"Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm."
Menezes L.F., Cai Y., Nagasawa Y., Silva A.M., Watkins M.L., Da Silva A.M., Somlo S., Guay-Woodford L.M., Germino G.G., Onuchic L.F.
Kidney Int. 66:1345-1355(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[9]"Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity."
Zhang J., Wu M., Wang S., Shah J.V., Wilson P.D., Zhou J.
Hum. Mol. Genet. 19:3306-3319(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[10]"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)."
Bergmann C., Senderek J., Sedlacek B., Pegiazoglou I., Puglia P., Eggermann T., Rudnik-Schoeneborn S., Furu L., Onuchic L.F., De Baca M., Germino G.G., Guay-Woodford L., Somlo S., Moser M., Buettner R., Zerres K.
J. Am. Soc. Nephrol. 14:76-89(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARPKD MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
[11]"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations."
Furu L., Onuchic L.F., Gharavi A., Hou X., Esquivel E.L., Nagasawa Y., Bergmann C., Senderek J., Avner E., Zerres K., Germino G.G., Guay-Woodford L.M., Somlo S.
J. Am. Soc. Nephrol. 14:2004-2014(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARPKD MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; ALA-2641; PRO-2772; GLY-2861; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
[12]"A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees."
Rossetti S., Torra R., Coto E., Consugar M., Kubly V., Malaga S., Navarro M., El-Youssef M., Torres V.E., Harris P.C.
Kidney Int. 64:391-403(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARPKD VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502; GLN-3529 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; ARG-3899; ILE-3960 AND ARG-4048.
[13]"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)."
Bergmann C., Senderek J., Schneider F., Dornia C., Kuepper F., Eggermann T., Rudnik-Schoeneborn S., Kirfel J., Moser M., Buettner R., Zerres K.
Hum. Mutat. 23:487-495(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARPKD MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
[14]"Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation."
Prelog M., Bergmann C., Ausserlechner M.J., Fischer H., Margreiter R., Gassner I., Brunner A., Jungraithmayr T.C., Zerres K., Sergi E.C., Zimmerhackl L.B.
Pediatr. Transplant. 10:362-366(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARPKD LEU-372.
[15]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-19; CYS-1081; ARG-1096; TRP-1624 AND LYS-1806.
[16]"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis."
Gunay-Aygun M., Tuchman M., Font-Montgomery E., Lukose L., Edwards H., Garcia A., Ausavarat S., Ziegler S.G., Piwnica-Worms K., Bryant J., Bernardini I., Fischer R., Huizing M., Guay-Woodford L., Gahl W.A.
Mol. Genet. Metab. 99:160-173(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARPKD TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY074797 mRNA. Translation: AAL74290.1.
AY129465 Genomic DNA. Translation: AAM93492.1.
AF480064 mRNA. Translation: AAM44232.1.
AY092083 mRNA. Translation: AAM18186.1.
AL590391 expand/collapse EMBL AC list , AL121946, AL157774, AL355997, AL391221 Genomic DNA. Translation: CAH72781.1.
AL590391 expand/collapse EMBL AC list , AL121946, AL157774, AL391221 Genomic DNA. Translation: CAH72782.1.
AL157774 expand/collapse EMBL AC list , AL121946, AL355997, AL391221, AL590391 Genomic DNA. Translation: CAH73867.1.
AL157774 expand/collapse EMBL AC list , AL121946, AL391221, AL590391 Genomic DNA. Translation: CAH73868.1.
AL391221 expand/collapse EMBL AC list , AL121946, AL157774, AL355997, AL590391 Genomic DNA. Translation: CAI16676.1.
AL391221 expand/collapse EMBL AC list , AL121946, AL157774, AL590391 Genomic DNA. Translation: CAI16677.1.
AL355997 expand/collapse EMBL AC list , AL121946, AL157774, AL391221, AL590391 Genomic DNA. Translation: CAI20233.1.
AL121946 expand/collapse EMBL AC list , AL157774, AL355997, AL391221, AL590391 Genomic DNA. Translation: CAI20324.1.
AL121946 expand/collapse EMBL AC list , AL157774, AL391221, AL590391 Genomic DNA. Translation: CAI20325.1.
CH471081 Genomic DNA. Translation: EAX04359.1.
CCDSCCDS4935.1. [P08F94-1]
CCDS4936.1. [P08F94-2]
RefSeqNP_619639.3. NM_138694.3. [P08F94-1]
NP_733842.2. NM_170724.2. [P08F94-2]
UniGeneHs.662050.

3D structure databases

ProteinModelPortalP08F94.
SMRP08F94. Positions 2230-2269, 3014-3066.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteP08F94.

Polymorphism databases

DMDM296439717.

Proteomic databases

PRIDEP08F94.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000340994; ENSP00000341097; ENSG00000170927. [P08F94-2]
ENST00000371117; ENSP00000360158; ENSG00000170927. [P08F94-1]
GeneID5314.
KEGGhsa:5314.
UCSCuc003pah.1. human. [P08F94-1]
uc003pai.3. human. [P08F94-2]

Organism-specific databases

CTD5314.
GeneCardsGC06M051480.
GeneReviewsPKHD1.
H-InvDBHIX0005949.
HGNCHGNC:9016. PKHD1.
HPAHPA031227.
MIM263200. phenotype.
606702. gene.
neXtProtNX_P08F94.
Orphanet731. Autosomal recessive polycystic kidney disease.
PharmGKBPA33348.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000115555.
OMAWVAGIKV.
OrthoDBEOG78WKQS.
PhylomeDBP08F94.
TreeFamTF329582.

Gene expression databases

BgeeP08F94.

Family and domain databases

Gene3D2.160.20.10. 3 hits.
2.60.40.10. 7 hits.
InterProIPR019316. 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]
PANTHERPTHR11915:SF230. PTHR11915:SF230. 1 hit.
PfamPF10162. G8. 2 hits.
PF01833. TIG. 7 hits.
[Graphical view]
SMARTSM00429. IPT. 6 hits.
SM00710. PbH1. 10 hits.
[Graphical view]
SUPFAMSSF51126. SSF51126. 3 hits.
SSF81296. SSF81296. 6 hits.
PROSITEPS51484. G8. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi5314.
NextBio20548.
PROP08F94.
SOURCESearch...

Entry information

Entry namePKHD1_HUMAN
AccessionPrimary (citable) accession number: P08F94
Secondary accession number(s): Q5VUA2 expand/collapse secondary AC list , Q5VUA3, Q5VWV1, Q86Z26, Q8TCZ9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 18, 2010
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 42 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM