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Protein

Fibrocystin-L

Gene

PKHD1L1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • signaling receptor activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fibrocystin-L
Alternative name(s):
Polycystic kidney and hepatic disease 1-like protein 1
Short name:
PKHD1-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PKHD1L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000205038.11

Human Gene Nomenclature Database

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HGNCi
HGNC:20313 PKHD1L1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607843 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86WI1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini21 – 4210ExtracellularSequence analysisAdd BLAST4190
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei4211 – 4231HelicalSequence analysisAdd BLAST21
Topological domaini4232 – 4243CytoplasmicSequence analysisAdd BLAST12

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
93035

Open Targets

More...
OpenTargetsi
ENSG00000205038

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134950222

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PKHD1L1

Domain mapping of disease mutations (DMDM)

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DMDMi
269849629

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Sequence analysisAdd BLAST20
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000031857221 – 4243Fibrocystin-LAdd BLAST4223

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi122O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi445O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi1803O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi1839O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi2320O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi3736O-linked (GalNAc...) threonineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q86WI1

PeptideAtlas

More...
PeptideAtlasi
Q86WI1

PRoteomics IDEntifications database

More...
PRIDEi
Q86WI1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
70165

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q86WI1

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86WI1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q86WI1

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Expressed in spleen and thymus as well as in activated T-cells and B-lymphoblasts.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000205038 Expressed in 102 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

More...
CleanExi
HS_PKHD1L1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86WI1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86WI1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044458

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Database of interacting proteins

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DIPi
DIP-59023N

Protein interaction database and analysis system

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IntActi
Q86WI1, 1 interactor

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q86WI1

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q86WI1

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini31 – 129IPT/TIG 1Add BLAST99
Domaini146 – 255IPT/TIG 2Add BLAST110
Domaini270 – 361IPT/TIG 3Add BLAST92
Domaini337 – 492PA14PROSITE-ProRule annotationAdd BLAST156
Domaini1067 – 1151IPT/TIG 4Add BLAST85
Domaini1155 – 1234IPT/TIG 5Add BLAST80
Domaini1240 – 1322IPT/TIG 6Add BLAST83
Domaini1330 – 1469IPT/TIG 7Add BLAST140
Domaini1566 – 1649IPT/TIG 8Add BLAST84
Domaini1659 – 1743IPT/TIG 9Add BLAST85
Domaini1749 – 1828IPT/TIG 10Add BLAST80
Domaini1831 – 1910IPT/TIG 11Add BLAST80
Domaini1916 – 1997IPT/TIG 12Add BLAST82
Domaini1999 – 2085IPT/TIG 13Add BLAST87
Domaini2091 – 2176IPT/TIG 14Add BLAST86
Domaini2184 – 2304G8 1PROSITE-ProRule annotationAdd BLAST121
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati2508 – 2530PbH1 1Add BLAST23
Repeati2566 – 2588PbH1 2Add BLAST23
Repeati2665 – 2687PbH1 3Add BLAST23
Repeati2733 – 2756PbH1 4Add BLAST24
Domaini3036 – 3174G8 2PROSITE-ProRule annotationAdd BLAST139
Repeati3293 – 3315PbH1 5Add BLAST23
Repeati3355 – 3377PbH1 6Add BLAST23
Repeati3416 – 3438PbH1 7Add BLAST23
Repeati3471 – 3493PbH1 8Add BLAST23
Repeati3527 – 3548PbH1 9Add BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi4188 – 4200Poly-SerAdd BLAST13

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IEIF Eukaryota
ENOG410XQ01 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157594

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000010311

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG099795

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86WI1

Identification of Orthologs from Complete Genome Data

More...
OMAi
NICQKRV

Database of Orthologous Groups

More...
OrthoDBi
EOG091G000V

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86WI1

TreeFam database of animal gene trees

More...
TreeFami
TF329582

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.160.20.10, 1 hit
2.60.40.10, 14 hits
2.60.40.420, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008972 Cupredoxin
IPR019316 G8_domain
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR002909 IPT_dom
IPR037524 PA14/GLEYA
IPR011658 PA14_dom
IPR006626 PbH1
IPR012334 Pectin_lyas_fold
IPR011050 Pectin_lyase_fold/virulence
IPR029927 PKHDL1

The PANTHER Classification System

More...
PANTHERi
PTHR44854 PTHR44854, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10162 G8, 2 hits
PF07691 PA14, 1 hit
PF01833 TIG, 14 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01225 G8, 2 hits
SM00429 IPT, 14 hits
SM00758 PA14, 1 hit
SM00710 PbH1, 10 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49503 SSF49503, 1 hit
SSF51126 SSF51126, 1 hit
SSF81296 SSF81296, 14 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51484 G8, 2 hits
PS51820 PA14, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q86WI1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGHLWLLGIW GLCGLLLCAA DPSTDGSQII PKVTEIIPKY GSINGATRLT
60 70 80 90 100
IRGEGFSQAN QFNYGVDNAE LGNSVQLISS FQSITCDVEK DASHSTQITC
110 120 130 140 150
YTRAMPEDSY TVRVSVDGVP VTENNTCKGH INSWECTFNA KSFRTPTIRS
160 170 180 190 200
ITPLSGTPGT LITIQGRIFT DVYGSNIALS SNGKNVRILR VYIGGMPCEL
210 220 230 240 250
LIPQSDNLYG LKLDHPNGDM GSMVCKTTGT FIGHHNVSFI LDNDYGRSFP
260 270 280 290 300
QKMAYFVSSL NKIAMFQTYA EVTMIFPSQG SIRGGTTLTI SGRFFDQTDF
310 320 330 340 350
PVRVLVGGEP CDILNVTENS ICCKTPPKPH ILKTVYPGGR GLKLEVWNNS
360 370 380 390 400
RPIRLEEILE YNEKTPGYMG ASWVDSASYI WLMEQDTFVA RFSGFLVAPD
410 420 430 440 450
SDVYRFYIKG DDRYAIYFSQ TGLPEDKVRI AYHSANANSY FSSPTQRSDD
460 470 480 490 500
IHLQKGKEYY IEILLQEYRL SAFVDVGLYQ YRNVYTEQQT GDAVNEEQVI
510 520 530 540 550
KSQSTILQEV QVITLENWET TNAINEVQKI KVTSPCVEAN SCSLYQYRLI
560 570 580 590 600
YNMEKTVFLP ADASEFILQS ALNDLWSIKP DTVQVIRTQN PQSYVYMVTF
610 620 630 640 650
ISTRGDFDLL GYEVVEGNNV TLDITEQTKG KPNLETFTLN WDGIASKPLT
660 670 680 690 700
LWSSEAEFQG AVEEMVSTKC PPQIANFEEG FVVKYFRDYE TDFNLEHINR
710 720 730 740 750
GQKTAETDAY CGRYSLKNPA VLFDSADVKP NRRPYGDILL FPYNQLCLAY
760 770 780 790 800
KGFLANYIGL KFQYQDNSKI TRSTDTQFTY NFAYGNNWTY TCIDLLDLVR
810 820 830 840 850
TKYTGTNVSL QRISLHKASE SQSFYVDVVY IGHTSTISTL DEMPKRRLPA
860 870 880 890 900
LANKGIFLEH FQVNQTKTNG PTMTNQYSVT MTSYNCSYNI PMMAVSFGQI
910 920 930 940 950
ITHETENEFV YRGNNWPGES KIHIQRIQAA SPPLSGSFDI QAYGHILKGL
960 970 980 990 1000
PAAVSAADLQ FALQSLEGMG RISVTREGTC AGYAWNIKWR STCGKQNLLQ
1010 1020 1030 1040 1050
INDSNIIGEK ANMTVTRIKE GGLFRQHVLG DLLRTPSQQP QVEVYVNGIP
1060 1070 1080 1090 1100
AKCSGDCGFT WDSNITPLVL AISPSQGSYE EGTILTIVGS GFSPSSAVTV
1110 1120 1130 1140 1150
SVGPVGCSLL SVDEKELKCQ ILNGSAGHAP VAVSMADVGL AQNVGGEEFY
1160 1170 1180 1190 1200
FVYQSQISHI WPDSGSIAGG TLLTLSGFGF NENSKVLVGN ETCNVIEGDL
1210 1220 1230 1240 1250
NRITCRTPKK TEGTVDISVT TNGFQATARD AFSYNCLQTP IITDFSPKVR
1260 1270 1280 1290 1300
TILGEVNLTI KGYNFGNELT QNMAVYVGGK TCQILHWNFT DIRCLLPKLS
1310 1320 1330 1340 1350
PGKHDIYVEV RNWGFASTRD KLNSSIQYVL EVTSMFPQRG SLFGGTEITI
1360 1370 1380 1390 1400
RGFGFSTIPA ENTVLLGSIP CNVTSSSENV IKCILHSTGN IFRITNNGKD
1410 1420 1430 1440 1450
SVHGLGYAWS PPVLNVSVGD TVAWHWQTHP FLRGIGYRIF SVSSPGSVIY
1460 1470 1480 1490 1500
DGKGFTSGRQ KSTSGSFSYQ FTSPGIHYYS SGYVDEAHSI FLQGVINVLP
1510 1520 1530 1540 1550
AETRHIPLHL FVGRSEATYA YGGPENLHLG SSVAGCLATE PLCSLNNTRV
1560 1570 1580 1590 1600
KNSKRLLFEV SSCFSPSISN ITPSTGTVNE LITIIGHGFS NLPWANKVTI
1610 1620 1630 1640 1650
GSYPCVVEES SEDSITCHID PQNSMDVGIR ETVTLTVYNL GTAINTLSNE
1660 1670 1680 1690 1700
FDRRFVLLPN IDLVLPNAGS TTGMTSVTIK GSGFAVSSAG VKVLMGHFPC
1710 1720 1730 1740 1750
KVLSVNYTAI ECETSPAAQQ LVDVDLLIHG VPAQCQGNCT FSYLESITPY
1760 1770 1780 1790 1800
ITGVFPNSVI GSVKVLIEGE GLGTVLEDIA VFIGNQQFRA IEVNENNITA
1810 1820 1830 1840 1850
LVTPLPVGHH SVSVVVGSKG LALGNLTVSS PPVASLSPTS GSIGGGTTLV
1860 1870 1880 1890 1900
ITGNGFYPGN TTVTIGDEPC QIISINPNEV YCRTPAGTTG MVDVKIFVNT
1910 1920 1930 1940 1950
IAYPPLLFTY ALEDTPFLRG IIPSRGPPGT EIEITGSNFG FEILEISVMI
1960 1970 1980 1990 2000
NNIQCNVTMA NDSVVQCIVG DHAGGTFPVM MHHKTKGSAM STVVFEYPLN
2010 2020 2030 2040 2050
IQNINPSQGS FGGGQTMTVT GTGFNPQNSI ILVCGSECAI DRLRSDYTTL
2060 2070 2080 2090 2100
LCEIPSNNGT GAEQACEVSV VNGKDLSQSM TPFTYAVSLT PLITAVSPKR
2110 2120 2130 2140 2150
GSTAGGTRLT VVGSGFSENM EDVHITIAEA KCDVEYSNKT HIICMTDAHT
2160 2170 2180 2190 2200
LSGWAPVCVH IRGVGMAKLD NADFLYVDAW SSNFSWGGKS PPEEGSLVVI
2210 2220 2230 2240 2250
TKGQTILLDQ STPILKMLLI QGGTLIFDEA DIELQAENIL ITDGGVLQIG
2260 2270 2280 2290 2300
TETSPFQHKA VITLHGHLRS PELPVYGAKT LAVREGILDL HGVPVPVTWT
2310 2320 2330 2340 2350
RLAHTAKAGE RILILQEAVT WKPGDNIVIA STGHRHSQGE NEKMTIASVS
2360 2370 2380 2390 2400
ADGINITLSN PLNYTHLGIT VTLPDGTLFE ARAEVGILTR NILIRGSDNV
2410 2420 2430 2440 2450
EWNNKIPACP DGFDTGEFAT QTCLQGKFGE EIGSDQFGGC VMFHAPVPGA
2460 2470 2480 2490 2500
NMVTGRIEYV EVFHAGQAFR LGRYPIHWHL LGDLQFKSYV RGCAIHQAYN
2510 2520 2530 2540 2550
RAVTIHNTHH LLVERNIIYD IKGGAFFIED GIEHGNILQY NLAVFVQQST
2560 2570 2580 2590 2600
SLLNDDVTPA AFWVTNPNNT IRHNAVAGGT HFGFWYRMNN HPDGPSYDRN
2610 2620 2630 2640 2650
ICQKRVPLGE FFNNTVHSQG WFGMWIFEEY FPMQTGSCTS TVPAPAIFNS
2660 2670 2680 2690 2700
LTTWNCQKGA EWVNGGALQF HNFVMVNNYE AGIETKRILA PYVGGWGETN
2710 2720 2730 2740 2750
GAVIKNAKIV GHLDELGMGS AFCTAKGLVL PFSEGLTVSS VHFMNFDRPN
2760 2770 2780 2790 2800
CVALGVTSIS GVCNDRCGGW SAKFVDVQYS HTPNKAGFRW EHEMVMIDVD
2810 2820 2830 2840 2850
GSLTGHKGHT VIPHSSLLDP SHCTQEAEWS IGFPGSVCDA SVSFHRLAFN
2860 2870 2880 2890 2900
QPSPVSLLEK DVVLSDSFGT SIIPFQKKRL THMSGWMALI PNANHINWYF
2910 2920 2930 2940 2950
KGVDHITNIS YTSTFYGFKE EDYVIISHNF TQNPDMFNII DMRNGSSNPL
2960 2970 2980 2990 3000
NWNTSKNGDW HLEANTSTLY YLVSGRNDLH QSQLISGNLD PDVKDVVINF
3010 3020 3030 3040 3050
QAYCCILQDC FPVHPPSRKP IPKKRPATYN LWSNDSFWQS SRENNYTVPH
3060 3070 3080 3090 3100
PGANVIIPEG TWIVADIDMP SMERLIIWGV LELEDKYNVG AAESSYREVV
3110 3120 3130 3140 3150
LNATYISLQG GRLIGGWEDN PFKGDLKIVL RGNHTTQDWA LPEGPNQGAK
3160 3170 3180 3190 3200
VLGVFGELDL HGIPHSIYKT KLSETAFAGS KVLSLMDAVD WQEGEEIVIT
3210 3220 3230 3240 3250
TTSYDFHQTE TRSIVKILHD HKILILNDSL SYTHFAEKYH VPGTGESYTL
3260 3270 3280 3290 3300
AADVGILSRN IKIVGEDYPG WSEDSFGARV LVGSFTENMM TFKGNARISN
3310 3320 3330 3340 3350
VEFYHSGQEG FRDSTDPRYA VTFLNLGQIQ EHGSSYIRGC AFHHGFSPAI
3360 3370 3380 3390 3400
GVFGTDGLDI DDNIIHFTVG EGIRIWGNAN RVRGNLIALS VWPGTYQNRK
3410 3420 3430 3440 3450
DLSSTLWHAA IEINRGTNTV LQNNVVAGFG RAGYRIDGEP CPGQFNPVEK
3460 3470 3480 3490 3500
WFDNEAHGGL YGIYMNQDGL PGCSLIQGFT IWTCWDYGIY FQTTESVHIY
3510 3520 3530 3540 3550
NVTLVDNGMA IFPMIYMPAA ISHKISSKNV QIKSSLIVGS SPGFNCSDVL
3560 3570 3580 3590 3600
TNDDPNIELT AAHRSPRSPS GGRSGICWPT FASAHNMAPR KPHAGIMSYN
3610 3620 3630 3640 3650
AISGLLDISG STFVGFKNVC SGETNVIFIT NPLNEDLQHP IHVKNIKLVD
3660 3670 3680 3690 3700
TTEQSKIFIH RPDISKVNPS DCVDMVCDAK RKSFLRDIDG SFLGNAGSVI
3710 3720 3730 3740 3750
PQAEYEWDGN SQVGIGDYRI PKAMLTFLNG SRIPVTEKAP HKGIIRDSTC
3760 3770 3780 3790 3800
KYLPEWQSYQ CFGMEYAMMV IESLDPDTET RRLSPVAIMG NGYVDLINGP
3810 3820 3830 3840 3850
QDHGWCAGYT CQRRLSLFHS IVALNKSYEV YFTGTSPQNL RLMLLNVDHN
3860 3870 3880 3890 3900
KAVLVGIFFS TLQRLDVYVN NLLVCPKTTI WNAQQKHCEL NNHLYKDQFL
3910 3920 3930 3940 3950
PNLDSTVLGE NYFDGTYQML YLLVKGTIPV EIHTATVIFV SFQLSVATED
3960 3970 3980 3990 4000
DFYTSHNLVK NLALFLKIPS DKIRISKIRG KSLRRKRSMG FIIEIEIGDP
4010 4020 4030 4040 4050
PIQFISNGTT GQMQLSELQE IAGSLGQAVI LGNISSILGF NISSMSITNP
4060 4070 4080 4090 4100
LPSPSDSGWI KVTAQPVERS AFPVHHVAFV SSLLVITQPV AAQPGQPFPQ
4110 4120 4130 4140 4150
QPSVKATDSD GNCVSVGITA LTLRAILKDS NNNQVNGLSG NTTIPFSSCW
4160 4170 4180 4190 4200
ANYTDLTPLR TGKNYKIEFI LDNVVGVESR TFSLLAESVS SSGSSSSSNS
4210 4220 4230 4240
KASTVGTYAQ IMTVVISCLV GRMWLLEIFM AAVSTLNITL RSY
Length:4,243
Mass (Da):465,734
Last modified:November 24, 2009 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA3A50CA85C5DA500
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YF65H0YF65_HUMAN
Fibrocystin-L
PKHD1L1
1,171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH93096 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti4061K → N in CAB63761 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_038760373W → C. Corresponds to variant dbSNP:rs16879428Ensembl.1
Natural variantiVAR_038761440Y → H. Corresponds to variant dbSNP:rs964307Ensembl.1
Natural variantiVAR_038762923H → R. Corresponds to variant dbSNP:rs4735133Ensembl.1
Natural variantiVAR_038763943Y → H. Corresponds to variant dbSNP:rs16879534Ensembl.1
Natural variantiVAR_038764957A → E. Corresponds to variant dbSNP:rs35375999Ensembl.1
Natural variantiVAR_0387651192T → A. Corresponds to variant dbSNP:rs10093885Ensembl.1
Natural variantiVAR_0387661514R → S. Corresponds to variant dbSNP:rs1673408Ensembl.1
Natural variantiVAR_0387671539T → R. Corresponds to variant dbSNP:rs7820062Ensembl.1
Natural variantiVAR_0387681965V → L1 PublicationCorresponds to variant dbSNP:rs1673407Ensembl.1
Natural variantiVAR_0387693050H → Q. Corresponds to variant dbSNP:rs1783147Ensembl.1
Natural variantiVAR_0387703080V → I. Corresponds to variant dbSNP:rs10441509Ensembl.1
Natural variantiVAR_0387713411I → V. Corresponds to variant dbSNP:rs16879659Ensembl.1
Natural variantiVAR_0387723607D → E. Corresponds to variant dbSNP:rs9774677Ensembl.1
Natural variantiVAR_0387733862L → F. Corresponds to variant dbSNP:rs16879693Ensembl.1
Natural variantiVAR_0387744220V → I. Corresponds to variant dbSNP:rs1783174Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY219181 mRNA Translation: AAO60072.1
AC021001 Genomic DNA No translation available.
AC021237 Genomic DNA No translation available.
BC093096 mRNA Translation: AAH93096.1 Sequence problems.
AL133640 mRNA Translation: CAB63761.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47911.1

Protein sequence database of the Protein Information Resource

More...
PIRi
T43498

NCBI Reference Sequences

More...
RefSeqi
NP_803875.2, NM_177531.4

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.170128
Hs.607451

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378402; ENSP00000367655; ENSG00000205038

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
93035

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:93035

UCSC genome browser

More...
UCSCi
uc003yne.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY219181 mRNA Translation: AAO60072.1
AC021001 Genomic DNA No translation available.
AC021237 Genomic DNA No translation available.
BC093096 mRNA Translation: AAH93096.1 Sequence problems.
AL133640 mRNA Translation: CAB63761.1
CCDSiCCDS47911.1
PIRiT43498
RefSeqiNP_803875.2, NM_177531.4
UniGeneiHs.170128
Hs.607451

3D structure databases

ProteinModelPortaliQ86WI1
SMRiQ86WI1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-59023N
IntActiQ86WI1, 1 interactor

PTM databases

CarbonylDBiQ86WI1
iPTMnetiQ86WI1
PhosphoSitePlusiQ86WI1

Polymorphism and mutation databases

BioMutaiPKHD1L1
DMDMi269849629

Proteomic databases

PaxDbiQ86WI1
PeptideAtlasiQ86WI1
PRIDEiQ86WI1
ProteomicsDBi70165

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378402; ENSP00000367655; ENSG00000205038
GeneIDi93035
KEGGihsa:93035
UCSCiuc003yne.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
93035
DisGeNETi93035
EuPathDBiHostDB:ENSG00000205038.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PKHD1L1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0034733
HIX0201302
HGNCiHGNC:20313 PKHD1L1
HPAiHPA044458
MIMi607843 gene
neXtProtiNX_Q86WI1
OpenTargetsiENSG00000205038
PharmGKBiPA134950222

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IEIF Eukaryota
ENOG410XQ01 LUCA
GeneTreeiENSGT00940000157594
HOGENOMiHOG000010311
HOVERGENiHBG099795
InParanoidiQ86WI1
OMAiNICQKRV
OrthoDBiEOG091G000V
PhylomeDBiQ86WI1
TreeFamiTF329582

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PKHD1L1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
93035

Protein Ontology

More...
PROi
PR:Q86WI1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000205038 Expressed in 102 organ(s), highest expression level in right uterine tube
CleanExiHS_PKHD1L1
ExpressionAtlasiQ86WI1 baseline and differential
GenevisibleiQ86WI1 HS

Family and domain databases

Gene3Di2.160.20.10, 1 hit
2.60.40.10, 14 hits
2.60.40.420, 1 hit
InterProiView protein in InterPro
IPR008972 Cupredoxin
IPR019316 G8_domain
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR002909 IPT_dom
IPR037524 PA14/GLEYA
IPR011658 PA14_dom
IPR006626 PbH1
IPR012334 Pectin_lyas_fold
IPR011050 Pectin_lyase_fold/virulence
IPR029927 PKHDL1
PANTHERiPTHR44854 PTHR44854, 1 hit
PfamiView protein in Pfam
PF10162 G8, 2 hits
PF07691 PA14, 1 hit
PF01833 TIG, 14 hits
SMARTiView protein in SMART
SM01225 G8, 2 hits
SM00429 IPT, 14 hits
SM00758 PA14, 1 hit
SM00710 PbH1, 10 hits
SUPFAMiSSF49503 SSF49503, 1 hit
SSF51126 SSF51126, 1 hit
SSF81296 SSF81296, 14 hits
PROSITEiView protein in PROSITE
PS51484 G8, 2 hits
PS51820 PA14, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPKHL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86WI1
Secondary accession number(s): Q567P2, Q9UF27
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: November 24, 2009
Last modified: December 5, 2018
This is version 118 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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