Protein

Fibrocystin

Gene

PKHD1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -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

signaling receptor activity
Source: UniProtKB
Non-traceable author statementⁱ
- 11919560

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cell-cell adhesion Source: UniProtKB
cellular calcium ion homeostasis
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17669261
cilium assembly Source: UniProtKB
homeostatic process
Source: UniProtKB
Non-traceable author statementⁱ
- 11919560
kidney development Source: UniProtKB
negative regulation of apoptotic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 19943112
- 21300060
negative regulation of cellular component movement Source: UniProtKB
negative regulation of NF-kappaB transcription factor activity
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21300060
negative regulation of protein kinase B signaling
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21300060
positive regulation of cell proliferation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 19943112
regulation of centrosome duplication
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 20554582
regulation of ERK1 and ERK2 cascade
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17669261
regulation of TOR signaling
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 19524688

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Receptor

Molecular function

Receptor

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Fibrocystin Alternative name(s): Polycystic kidney and hepatic disease 1 protein Polyductin Tigmin
Gene namesⁱ	Name:PKHD11 PublicationImported Synonyms:FCYT, TIGM1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000170927.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:9016 PKHD1
MIMⁱ	606702 gene
neXtProtⁱ	NX_P08F94

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	24 – 3858	ExtracellularSequence analysisAdd BLAST	3835
Transmembraneⁱ	3859 – 3879	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	3880 – 4074	CytoplasmicSequence analysisAdd BLAST	195

Keywords - Cellular componentⁱ

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

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Polycystic kidney disease 4, with or without polycystic liver disease (PKD4)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, in some cases, 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. PKD4 inheritance is autosomal recessive.

See also OMIM:263200

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_018520	17	A → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs755654557Ensembl.	1
Natural variantⁱVAR_014039	36	T → M in PKD4; common mutation; also found in a patient affected by polycystic liver disease. 8 PublicationsCorresponds to variant dbSNP:rs137852944EnsemblClinVar.	1
Natural variantⁱVAR_066416	92	R → W in PKD4. 1 PublicationCorresponds to variant dbSNP:rs370277502EnsemblClinVar.	1
Natural variantⁱVAR_075540	218	E → K in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149522482EnsemblClinVar.	1
Natural variantⁱVAR_014040	222	I → V in PKD4. 4 PublicationsCorresponds to variant dbSNP:rs369925690EnsemblClinVar.	1
Natural variantⁱVAR_018522	223	G → S in PKD4. 1 PublicationCorresponds to variant dbSNP:rs749454235Ensembl.	1
Natural variantⁱVAR_066417	246	I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1037991711Ensembl.	1
Natural variantⁱVAR_014041	253	F → L in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs775254013Ensembl.	1
Natural variantⁱVAR_066418	255	Y → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs886042259EnsemblClinVar.	1
Natural variantⁱVAR_066420	293	A → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs398124499EnsemblClinVar.	1
Natural variantⁱVAR_018523	307	I → T in PKD4. 1 Publication	1
Natural variantⁱVAR_018524	326	G → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs778329699EnsemblClinVar.	1
Natural variantⁱVAR_027439	372	F → L in PKD4. 1 Publication	1
Natural variantⁱVAR_018525	387	Missing in PKD4. 1 Publication	1
Natural variantⁱVAR_066421	466	G → E in PKD4. 1 PublicationCorresponds to variant dbSNP:rs750730042EnsemblClinVar.	1
Natural variantⁱVAR_066422	470	G → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs776845008Ensembl.	1
Natural variantⁱVAR_018527	473	I → S in PKD4. 1 Publication	1
Natural variantⁱVAR_018528	486	Y → H in PKD4. 1 Publication	1
Natural variantⁱVAR_018530	496	R → P in PKD4. 1 Publication	1
Natural variantⁱVAR_066423	539	I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs749730748Ensembl.	1
Natural variantⁱVAR_018532	656	W → C in PKD4. 1 Publication	1
Natural variantⁱVAR_066424	686	H → P in PKD4. 1 Publication	1
Natural variantⁱVAR_018533	703	D → N in PKD4. 1 Publication	1
Natural variantⁱVAR_066426	724	P → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1229139298Ensembl.	1
Natural variantⁱVAR_018535	739	P → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs758352210EnsemblClinVar.	1
Natural variantⁱVAR_018536	757	I → L in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777183511EnsemblClinVar.	1
Natural variantⁱVAR_014044	760	R → H in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs745770404EnsemblClinVar.	1
Natural variantⁱVAR_018537	805	P → L in PKD4. 3 PublicationsCorresponds to variant dbSNP:rs199531851EnsemblClinVar.	1
Natural variantⁱVAR_018539	899	T → P in PKD4. 1 Publication	1
Natural variantⁱVAR_018540	997	M → K in PKD4. 1 Publication	1
Natural variantⁱVAR_018541	1030	A → E in PKD4. 1 Publication	1
Natural variantⁱVAR_014046	1122	G → S in PKD4. 2 Publications	1
Natural variantⁱVAR_018542	1123	G → S in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs142107837EnsemblClinVar.	1
Natural variantⁱVAR_014048	1249	C → W in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs748540413EnsemblClinVar.	1
Natural variantⁱVAR_018546	1389	P → T in PKD4. 1 Publication	1
Natural variantⁱVAR_014050	1407	L → R in PKD4. 2 Publications	1
Natural variantⁱVAR_018547	1472	C → Y in PKD4. 1 Publication	1
Natural variantⁱVAR_018548	1486	P → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1421520936Ensembl.	1
Natural variantⁱVAR_018549	1584	S → I in PKD4. 1 Publication	1
Natural variantⁱVAR_014051	1624	R → W in PKD4; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs200391019EnsemblClinVar.	1
Natural variantⁱVAR_014052	1664	S → F in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs28937907EnsemblClinVar.	1
Natural variantⁱVAR_014053	1741	V → M in PKD4. 3 PublicationsCorresponds to variant dbSNP:rs137852946EnsemblClinVar.	1
Natural variantⁱVAR_018551	1781	T → I in PKD4. 1 Publication	1
Natural variantⁱVAR_018552	1789	V → L in PKD4. 1 Publication	1
Natural variantⁱVAR_066428	1817	V → G in PKD4. 1 Publication	1
Natural variantⁱVAR_018553	1833	S → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs201105958EnsemblClinVar.	1
Natural variantⁱVAR_018554	1838	Y → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs777999875EnsemblClinVar.	1
Natural variantⁱVAR_018555	1867	S → N in PKD4. 1 Publication	1
Natural variantⁱVAR_066429	1875	V → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs202016058Ensembl.	1
Natural variantⁱVAR_014054	1917	Q → R in PKD4. 2 Publications	1
Natural variantⁱVAR_066430	1928	W → L in PKD4. 1 Publication	1
Natural variantⁱVAR_018557	1942	D → G in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs1210846081Ensembl.	1
Natural variantⁱVAR_018558	1971	G → D in PKD4. 1 PublicationCorresponds to variant dbSNP:rs180675584EnsemblClinVar.	1
Natural variantⁱVAR_014055	1995	E → G in PKD4. 2 Publications	1
Natural variantⁱVAR_018559	1998	I → T in PKD4. 1 Publication	1
Natural variantⁱVAR_066431	2009	A → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs761786260Ensembl.	1
Natural variantⁱVAR_018560	2032	V → L in PKD4. 1 Publication	1
Natural variantⁱVAR_066432	2106	L → R in PKD4. 1 Publication	1
Natural variantⁱVAR_018561	2134	L → P in PKD4. 1 Publication	1
Natural variantⁱVAR_066433	2210	G → E in PKD4. 1 Publication	1
Natural variantⁱVAR_066434	2219	S → L in PKD4. 1 Publication	1
Natural variantⁱVAR_066435	2224	G → R in PKD4; may affect splicing. 1 PublicationCorresponds to variant dbSNP:rs759687904Ensembl.	1
Natural variantⁱVAR_018562	2303	I → F in PKD4. 1 PublicationCorresponds to variant dbSNP:rs751084512EnsemblClinVar.	1
Natural variantⁱVAR_014056	2331	I → K in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs200179145EnsemblClinVar.	1
Natural variantⁱVAR_018563	2422	C → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs201881567EnsemblClinVar.	1
Natural variantⁱVAR_066436	2422	C → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs201881567EnsemblClinVar.	1
Natural variantⁱVAR_066437	2431	E → V in PKD4; may affect splicing. 1 PublicationCorresponds to variant dbSNP:rs1280884139Ensembl.	1
Natural variantⁱVAR_066438	2573	R → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs752994816EnsemblClinVar.	1
Natural variantⁱVAR_018566	2688	C → F in PKD4. 1 Publication	1
Natural variantⁱVAR_018567	2761	D → Y in PKD4. 1 Publication	1
Natural variantⁱVAR_018568	2772	L → P in PKD4. 1 Publication	1
Natural variantⁱVAR_066440	2798	V → G in PKD4. 1 Publication	1
Natural variantⁱVAR_066441	2803	C → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs398124495EnsemblClinVar.	1
Natural variantⁱVAR_066442	2804	M → K in PKD4. 1 PublicationCorresponds to variant dbSNP:rs794727759EnsemblClinVar.	1
Natural variantⁱVAR_018570	2863	Y → C in PKD4. 1 Publication	1
Natural variantⁱVAR_014058	2957	I → T in PKD4. 7 PublicationsCorresponds to variant dbSNP:rs760222236EnsemblClinVar.	1
Natural variantⁱVAR_018572	2962	D → G in PKD4. 1 Publication	1
Natural variantⁱVAR_018573	2983	S → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs141169758EnsemblClinVar.	1
Natural variantⁱVAR_014059	3018	S → F in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs137852945EnsemblClinVar.	1
Natural variantⁱVAR_018574	3036	V → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs893497345Ensembl.	1
Natural variantⁱVAR_066443	3049	H → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs367678592EnsemblClinVar.	1
Natural variantⁱVAR_018576	3081	I → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs142146981EnsemblClinVar.	1
Natural variantⁱVAR_018579	3124	H → Y in PKD4. 2 Publications	1
Natural variantⁱVAR_018581	3167	I → L in PKD4. 1 Publication	1
Natural variantⁱVAR_018582	3175	N → D in PKD4. 1 Publication	1
Natural variantⁱVAR_018583	3175	N → S in PKD4. 1 Publication	1
Natural variantⁱVAR_018584	3177	I → T in PKD4. 3 PublicationsCorresponds to variant dbSNP:rs200511261EnsemblClinVar.	1
Natural variantⁱVAR_066444	3207	A → T in PKD4. 1 Publication	1
Natural variantⁱVAR_018585	3289	S → I in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148932323EnsemblClinVar.	1
Natural variantⁱVAR_018586	3293	D → V in PKD4. 2 Publications	1
Natural variantⁱVAR_018587	3346	C → R in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149798764EnsemblClinVar.	1
Natural variantⁱVAR_018589	3468	I → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs748863662Ensembl.	1
Natural variantⁱVAR_018590	3471	V → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs137852950EnsemblClinVar.	1
Natural variantⁱVAR_018591	3482	R → C in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs148617572EnsemblClinVar.	1
Natural variantⁱVAR_018592	3502	E → V in PKD4. 1 Publication	1
Natural variantⁱVAR_014061	3553	I → T in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs137852948EnsemblClinVar.	1
Natural variantⁱVAR_018596	3622	C → Y in PKD4. 1 Publication	1
Natural variantⁱVAR_018597	3783	P → S in PKD4. 1 Publication	1
Natural variantⁱVAR_066446	3957	R → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs146680689EnsemblClinVar.	1

Keywords - Diseaseⁱ

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	5314
GeneReviewsⁱ	PKHD1
MalaCards human disease database More...MalaCardsⁱ	PKHD1
MIMⁱ	263200 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000170927
Orphanetⁱ	731 Autosomal recessive polycystic kidney disease 53035 Caroli disease
PharmGKBⁱ	PA33348

Polymorphism and mutation databases

BioMutaⁱ	PKHD1
DMDMⁱ	296439717

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 23	Sequence analysisAdd BLAST		23
ChainⁱPRO_0000022062	24 – 4074	FibrocystinAdd BLAST		4051

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	54	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	226	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	276	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	357	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	387	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	507	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	520	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	529	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	641	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	711	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	830	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	869	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	967	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	977	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1065	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1084	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1116	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1135	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1234	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1241	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1312	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1323	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1346	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1377	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1460	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1475	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1494	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1527	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1532	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1564	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1582	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1602	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1631	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1698	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1764	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1779	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1879	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1883	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1919	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1945	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1959	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2034	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2115	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2144	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2350	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2385	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2435	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2471	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2509	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2535	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2553	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2595	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2633	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2753	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	2768	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	3008	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	3140	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	3169	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	3225	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	3488	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	3528	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	3707	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	3726	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	3838	N-linked (GlcNAc...) asparagineSequence analysis	1

Keywords - PTMⁱ

Glycoprotein

Proteomic databases

EPDⁱ	P08F94
PaxDbⁱ	P08F94
PeptideAtlas More...PeptideAtlasⁱ	P08F94
PRIDEⁱ	P08F94
ProteomicsDBⁱ	52181 52182 [P08F94-2]

PTM databases

iPTMnetⁱ	P08F94
PhosphoSitePlusⁱ	P08F94

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

Bgeeⁱ	ENSG00000170927 Expressed in 48 organ(s), highest expression level in kidney epithelium
Genevisibleⁱ	P08F94 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA031227

HPAⁱ

HPA031227

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
CAMLG	P49069	3	EBI-11693144,EBI-1748958

With

Entry

#Exp.

IntAct

Notes

CAMLG

P49069

EBI-11693144,EBI-1748958

Protein-protein interaction databases

BioGridⁱ	111331, 1 interactor
CORUMⁱ	P08F94
IntActⁱ	P08F94, 1 interactor
STRINGⁱ	9606.ENSP00000360158

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P08F94
SMRⁱ	P08F94
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	24 – 111	IPT/TIG 1; atypicalAdd BLAST	88
Domainⁱ	137 – 232	IPT/TIG 2Add BLAST	96
Domainⁱ	259 – 335	IPT/TIG 3Add BLAST	77
Domainⁱ	322 – 485	PA14PROSITE-ProRule annotationAdd BLAST	164
Domainⁱ	931 – 1015	IPT/TIG 4Add BLAST	85
Domainⁱ	1019 – 1103	IPT/TIG 5Add BLAST	85
Domainⁱ	1108 – 1192	IPT/TIG 6; atypicalAdd BLAST	85
Domainⁱ	1196 – 1289	IPT/TIG 7Add BLAST	94
Domainⁱ	1301 – 1382	IPT/TIG 8; atypicalAdd BLAST	82
Domainⁱ	1389 – 1481	IPT/TIG 9Add BLAST	93
Domainⁱ	1486 – 1570	IPT/TIG 10Add BLAST	85
Domainⁱ	1573 – 1659	IPT/TIG 11Add BLAST	87
Domainⁱ	1658 – 1742	IPT/TIG 12; atypicalAdd BLAST	85
Domainⁱ	1932 – 2053	G8 1PROSITE-ProRule annotationAdd BLAST	122
Repeatⁱ	2226 – 2248	PbH1 1Add BLAST	23
Repeatⁱ	2249 – 2271	PbH1 2Add BLAST	23
Repeatⁱ	2292 – 2325	PbH1 3Add BLAST	34
Repeatⁱ	2326 – 2347	PbH1 4Add BLAST	22
Repeatⁱ	2409 – 2431	PbH1 5Add BLAST	23
Repeatⁱ	2469 – 2502	PbH1 6Add BLAST	34
Domainⁱ	2747 – 2873	G8 2PROSITE-ProRule annotationAdd BLAST	127
Repeatⁱ	3010 – 3032	PbH1 7Add BLAST	23
Repeatⁱ	3033 – 3055	PbH1 8Add BLAST	23
Repeatⁱ	3086 – 3108	PbH1 9Add BLAST	23

Keywords - Domainⁱ

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IEIF Eukaryota ENOG410XQ01 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00780000121902
HOGENOMⁱ	HOG000115555
HOVERGENⁱ	HBG053604
InParanoidⁱ	P08F94
KEGG Orthology (KO) More...KOⁱ	K19865
OMAⁱ	GYFFHLV
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G00JT
PhylomeDBⁱ	P08F94
TreeFamⁱ	TF329582

Family and domain databases

Gene3Dⁱ	2.160.20.10, 2 hits 2.60.40.10, 5 hits
InterProⁱ	View protein in InterPro IPR039448 Beta_helix IPR019316 G8_domain IPR013783 Ig-like_fold IPR014756 Ig_E-set IPR002909 IPT_dom IPR037524 PA14/GLEYA IPR006626 PbH1 IPR012334 Pectin_lyas_fold IPR011050 Pectin_lyase_fold/virulence IPR028839 PKHD1
PANTHERⁱ	PTHR45107 PTHR45107, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF13229 Beta_helix, 2 hits PF10162 G8, 2 hits PF01833 TIG, 7 hits
SMARTⁱ	View protein in SMART SM01225 G8, 2 hits SM00429 IPT, 6 hits SM00710 PbH1, 10 hits
SUPFAMⁱ	SSF51126 SSF51126, 2 hits SSF81296 SSF81296, 6 hits
PROSITEⁱ	View protein in PROSITE PS51484 G8, 2 hits PS51820 PA14, 1 hit

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 Add 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]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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

Length:4,074

Mass (Da):446,702

Last modified:May 18, 2010 - v1

Checksum:ⁱ719AA72F1203EDE1

Isoform 2 (identifier: P08F94-2) [UniParc]FASTA Add to basket

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

« 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 
KYLFKDLDGR ALGLPPPVSV FPKTEAEWTA SFFNAVTTEQ ALKISE

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Length:3,396

Mass (Da):371,654

Checksum:ⁱCED8655BAA11B05F

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_018520	17	A → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs755654557Ensembl.	1
Natural variantⁱVAR_036228	19	R → H in a colorectal cancer sample and PKD4; somatic mutation; unknown pathological significance. 2 Publications	1
Natural variantⁱVAR_018521	25	I → V1 Publication	1
Natural variantⁱVAR_014039	36	T → M in PKD4; common mutation; also found in a patient affected by polycystic liver disease. 8 PublicationsCorresponds to variant dbSNP:rs137852944EnsemblClinVar.	1
Natural variantⁱVAR_066416	92	R → W in PKD4. 1 PublicationCorresponds to variant dbSNP:rs370277502EnsemblClinVar.	1
Natural variantⁱVAR_075540	218	E → K in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149522482EnsemblClinVar.	1
Natural variantⁱVAR_014040	222	I → V in PKD4. 4 PublicationsCorresponds to variant dbSNP:rs369925690EnsemblClinVar.	1
Natural variantⁱVAR_018522	223	G → S in PKD4. 1 PublicationCorresponds to variant dbSNP:rs749454235Ensembl.	1
Natural variantⁱVAR_066417	246	I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1037991711Ensembl.	1
Natural variantⁱVAR_014041	253	F → L in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs775254013Ensembl.	1
Natural variantⁱVAR_066418	255	Y → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs886042259EnsemblClinVar.	1
Natural variantⁱVAR_066419	292	I → V in a patient with polycystic kidney disease. 1 PublicationCorresponds to variant dbSNP:rs367590965Ensembl.	1
Natural variantⁱVAR_066420	293	A → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs398124499EnsemblClinVar.	1
Natural variantⁱVAR_018523	307	I → T in PKD4. 1 Publication	1
Natural variantⁱVAR_018524	326	G → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs778329699EnsemblClinVar.	1
Natural variantⁱVAR_027439	372	F → L in PKD4. 1 Publication	1
Natural variantⁱVAR_018525	387	Missing in PKD4. 1 Publication	1
Natural variantⁱVAR_018526	457	E → D1 Publication	1
Natural variantⁱVAR_066421	466	G → E in PKD4. 1 PublicationCorresponds to variant dbSNP:rs750730042EnsemblClinVar.	1
Natural variantⁱVAR_066422	470	G → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs776845008Ensembl.	1
Natural variantⁱVAR_018527	473	I → S in PKD4. 1 Publication	1
Natural variantⁱVAR_018528	486	Y → H in PKD4. 1 Publication	1
Natural variantⁱVAR_018529	488	R → P.	1
Natural variantⁱVAR_080923	496 – 4074	Missing Found in a patient affected by polycystic liver disease; unknown pathological significance. 1 PublicationAdd BLAST	3579
Natural variantⁱVAR_018530	496	R → P in PKD4. 1 Publication	1
Natural variantⁱVAR_066423	539	I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs749730748Ensembl.	1
Natural variantⁱVAR_018531	579	T → M2 PublicationsCorresponds to variant dbSNP:rs45500692EnsemblClinVar.	1
Natural variantⁱVAR_018532	656	W → C in PKD4. 1 Publication	1
Natural variantⁱVAR_066424	686	H → P in PKD4. 1 Publication	1
Natural variantⁱVAR_018533	703	D → N in PKD4. 1 Publication	1
Natural variantⁱVAR_066425	723	R → C1 PublicationCorresponds to variant dbSNP:rs794727366EnsemblClinVar.	1
Natural variantⁱVAR_066426	724	P → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1229139298Ensembl.	1
Natural variantⁱVAR_018534	732	V → F1 PublicationCorresponds to variant dbSNP:rs201432731EnsemblClinVar.	1
Natural variantⁱVAR_018535	739	P → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs758352210EnsemblClinVar.	1
Natural variantⁱVAR_014042	752	T → M1 PublicationCorresponds to variant dbSNP:rs200654041EnsemblClinVar.	1
Natural variantⁱVAR_018536	757	I → L in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777183511EnsemblClinVar.	1
Natural variantⁱVAR_014043	760	R → C3 PublicationsCorresponds to variant dbSNP:rs9370096EnsemblClinVar.	1
Natural variantⁱVAR_014044	760	R → H in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs745770404EnsemblClinVar.	1
Natural variantⁱVAR_051282	760	R → W. Corresponds to variant dbSNP:rs9370096EnsemblClinVar.	1
Natural variantⁱVAR_018537	805	P → L in PKD4. 3 PublicationsCorresponds to variant dbSNP:rs199531851EnsemblClinVar.	1
Natural variantⁱVAR_018538	830	N → S3 PublicationsCorresponds to variant dbSNP:rs62406032EnsemblClinVar.	1
Natural variantⁱVAR_014045	852	W → R1 Publication	1
Natural variantⁱVAR_018539	899	T → P in PKD4. 1 Publication	1
Natural variantⁱVAR_018540	997	M → K in PKD4. 1 Publication	1
Natural variantⁱVAR_018541	1030	A → E in PKD4. 1 Publication	1
Natural variantⁱVAR_036229	1081	R → C in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs200986136EnsemblClinVar.	1
Natural variantⁱVAR_036230	1096	L → R in a colorectal cancer sample; somatic mutation. 1 Publication	1
Natural variantⁱVAR_014046	1122	G → S in PKD4. 2 Publications	1
Natural variantⁱVAR_018542	1123	G → S in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs142107837EnsemblClinVar.	1
Natural variantⁱVAR_018543	1136	Y → C. Corresponds to variant dbSNP:rs41273726EnsemblClinVar.	1
Natural variantⁱVAR_018544	1150	A → P1 Publication	1
Natural variantⁱVAR_014047	1204	C → Y1 Publication	1
Natural variantⁱVAR_014048	1249	C → W in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs748540413EnsemblClinVar.	1
Natural variantⁱVAR_014049	1262	A → V2 PublicationsCorresponds to variant dbSNP:rs9296669EnsemblClinVar.	1
Natural variantⁱVAR_018545	1283	S → L1 Publication	1
Natural variantⁱVAR_018546	1389	P → T in PKD4. 1 Publication	1
Natural variantⁱVAR_014050	1407	L → R in PKD4. 2 Publications	1
Natural variantⁱVAR_018547	1472	C → Y in PKD4. 1 Publication	1
Natural variantⁱVAR_018548	1486	P → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1421520936Ensembl.	1
Natural variantⁱVAR_018549	1584	S → I in PKD4. 1 Publication	1
Natural variantⁱVAR_014051	1624	R → W in PKD4; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs200391019EnsemblClinVar.	1
Natural variantⁱVAR_014052	1664	S → F in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs28937907EnsemblClinVar.	1
Natural variantⁱVAR_018550</

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UniProtKB - P08F94 (PKHD1_HUMAN)

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Fibrocystin

PKHD1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Proteomic databases

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<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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Organism-specific databases

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Protein-protein interaction databases

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3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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