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Aliases for PKHD1L1 Gene

Aliases for PKHD1L1 Gene

  • Polycystic Kidney And Hepatic Disease 1 (Autosomal Recessive)-Like 1 2 3 5
  • Polycystic Kidney And Hepatic Disease 1-Like Protein 1 3 4
  • PKHD1-Like Protein 1 3 4
  • Polycystic Kidney And Hepatic Disease-Like 1 3
  • Fibrocystin-L 3
  • PKHDL1 3

External Ids for PKHD1L1 Gene

Previous GeneCards Identifiers for PKHD1L1 Gene

  • GC08P110587
  • GC08P110043
  • GC08P110331
  • GC08P110443
  • GC08P110374
  • GC08P105696

Summaries for PKHD1L1 Gene

GeneCards Summary for PKHD1L1 Gene

PKHD1L1 (Polycystic Kidney And Hepatic Disease 1 (Autosomal Recessive)-Like 1) is a Protein Coding gene. Diseases associated with PKHD1L1 include Polycystic Kidney And Hepatic Disease. GO annotations related to this gene include receptor activity. An important paralog of this gene is PKHD1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKHD1L1 Gene

Genomics for PKHD1L1 Gene

Regulatory Elements for PKHD1L1 Gene

Enhancers for PKHD1L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F109331 0.2 ENCODE 64.3 -28.8 -28844 4.2 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 PKHD1L1 NUDCD1 EIF3E ENY2 ENSG00000250267
GH08F109370 0.5 ENCODE 61.6 +7.4 7444 1.0 HDAC1 PKNOX1 CBX3 ATF1 TBL1XR1 CHAMP1 GTF3C2 GATA2 CREM MBD2 PKHD1L1 EIF3E LOC100420748
GH08F109424 0.2 ENCODE 58.8 +62.3 62324 1.1 PKHD1L1 SYBU LOC100420748 MAPK6PS5
GH08F109369 0.2 ENCODE 56.5 +6.8 6772 0.3 ATF3 PKHD1L1 LOC100420748
GH08F109521 0.6 ENCODE 26.8 +159.2 159190 0.2 MTA2 IKZF1 BMI1 TBX21 SPI1 PKHD1L1 SYBU LOC100132813 EBAG9 MAPK6PS5
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PKHD1L1 on UCSC Golden Path with GeneCards custom track

Promoters for PKHD1L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001904336 -76 800 SOX13 CTCF CEBPB ZNF48 RAD21 CHAMP1 BCL6 ZBTB33

Genomic Location for PKHD1L1 Gene

109,362,477 bp from pter
109,532,686 bp from pter
170,210 bases
Plus strand

Genomic View for PKHD1L1 Gene

Genes around PKHD1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKHD1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKHD1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKHD1L1 Gene

Proteins for PKHD1L1 Gene

  • Protein details for PKHD1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q567P2
    • Q9UF27

    Protein attributes for PKHD1L1 Gene

    4243 amino acids
    Molecular mass:
    465734 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH93096.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for PKHD1L1 Gene

Post-translational modifications for PKHD1L1 Gene

  • Glycosylation at Thr 122, Thr 445, Thr 1803, Thr 1839, Thr 2320, and Thr 3736
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PKHD1L1 Gene

Domains & Families for PKHD1L1 Gene

Suggested Antigen Peptide Sequences for PKHD1L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 G8 domains.
  • Contains 9 PbH1 repeats.
  • Contains 2 G8 domains.
  • Contains 14 IPT/TIG domains.
  • Contains 9 PbH1 repeats.
genes like me logo Genes that share domains with PKHD1L1: view

No data available for Gene Families for PKHD1L1 Gene

Function for PKHD1L1 Gene

Gene Ontology (GO) - Molecular Function for PKHD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity NAS 12620974
genes like me logo Genes that share ontologies with PKHD1L1: view
genes like me logo Genes that share phenotypes with PKHD1L1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PKHD1L1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PKHD1L1 Gene

Localization for PKHD1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKHD1L1 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

Jensen Localization Image for PKHD1L1 Gene COMPARTMENTS Subcellular localization image for PKHD1L1 gene
Compartment Confidence
cytosol 5
extracellular 5
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PKHD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space NAS 12620974
GO:0005829 cytosol TAS 21208571
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 12620974
genes like me logo Genes that share ontologies with PKHD1L1: view

Pathways & Interactions for PKHD1L1 Gene

SuperPathways for PKHD1L1 Gene

No Data Available

Interacting Proteins for PKHD1L1 Gene

Selected Interacting proteins: Q86WI1-PKHL1_HUMAN for PKHD1L1 Gene via IID

Gene Ontology (GO) - Biological Process for PKHD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 12620974
genes like me logo Genes that share ontologies with PKHD1L1: view

No data available for Pathways by source and SIGNOR curated interactions for PKHD1L1 Gene

Transcripts for PKHD1L1 Gene

Unigene Clusters for PKHD1L1 Gene

Polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKHD1L1 Gene

No ASD Table

Relevant External Links for PKHD1L1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PKHD1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PKHD1L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKHD1L1 Gene

This gene is overexpressed in Thyroid (x19.9) and Adipose - Visceral (Omentum) (x6.9).

Protein differential expression in normal tissues from HIPED for PKHD1L1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (41.2) and Cervix (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PKHD1L1 Gene

Protein tissue co-expression partners for PKHD1L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PKHD1L1 Gene:


SOURCE GeneReport for Unigene cluster for PKHD1L1 Gene:


mRNA Expression by UniProt/SwissProt for PKHD1L1 Gene:

Tissue specificity: Ubiquitous. Expressed in spleen and thymus as well as in activated T-cells and B-lymphoblasts.
genes like me logo Genes that share expression patterns with PKHD1L1: view

Primer Products

Orthologs for PKHD1L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKHD1L1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PKHD1L1 34 35
  • 99.29 (n)
(Canis familiaris)
Mammalia PKHD1L1 34 35
  • 89.16 (n)
(Bos Taurus)
Mammalia PKHD1L1 35
  • 86 (a)
(Rattus norvegicus)
Mammalia Pkhd1l1 34
  • 84.07 (n)
(Mus musculus)
Mammalia Pkhd1l1 34 16 35
  • 84.04 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 80 (a)
-- 35
  • 79 (a)
-- 35
  • 75 (a)
-- 35
  • 63 (a)
-- 35
  • 62 (a)
(Monodelphis domestica)
Mammalia PKHD1L1 35
  • 73 (a)
(Gallus gallus)
Aves -- 35
  • 19 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486760 34
  • 61.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17321 34
(Danio rerio)
Actinopterygii pkhd1l1 34 35
  • 58.04 (n)
PKHD1L1 (1 of 2) 35
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
-- 35
  • 39 (a)
-- 35
  • 37 (a)
Species where no ortholog for PKHD1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PKHD1L1 Gene

Gene Tree for PKHD1L1 (if available)
Gene Tree for PKHD1L1 (if available)

Paralogs for PKHD1L1 Gene

Paralogs for PKHD1L1 Gene

genes like me logo Genes that share paralogs with PKHD1L1: view

Variants for PKHD1L1 Gene

Sequence variations from dbSNP and Humsavar for PKHD1L1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10086817 -- 109,421,925(+) TTACA(C/T)TGAAG intron-variant
rs10088052 -- 109,447,125(+) ggctg(A/G)ggcag intron-variant
rs10088258 -- 109,535,170(+) ATTAT(A/G)GTTGC utr-variant-3-prime
rs10088612 -- 109,535,478(+) TTTAA(A/G)TTAAT utr-variant-3-prime
rs10088684 -- 109,535,427(+) GTAAT(C/T)CTTAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PKHD1L1 Gene

Variant ID Type Subtype PubMed ID
esv2027303 CNV deletion 18987734
esv2554092 CNV deletion 19546169
esv2737425 CNV deletion 23290073
esv3544005 CNV deletion 23714750
esv3548 CNV loss 18987735
esv3618377 CNV loss 21293372
esv3618378 CNV loss 21293372
esv3618379 CNV loss 21293372
esv3618380 CNV gain 21293372
esv7340 CNV loss 19470904
nsv1018510 CNV gain 25217958
nsv1075573 CNV deletion 25765185
nsv1124365 CNV deletion 24896259
nsv396947 CNV deletion 16902084
nsv478770 CNV novel sequence insertion 20440878
nsv957682 CNV deletion 24416366
nsv981974 CNV duplication 23825009

Variation tolerance for PKHD1L1 Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.72; 99.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PKHD1L1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKHD1L1 Gene

Disorders for PKHD1L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PKHD1L1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
polycystic kidney and hepatic disease
  • polycystic kidney disease, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PKHD1L1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PKHD1L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKHD1L1 Gene

Publications for PKHD1L1 Gene

  1. PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression. (PMID: 12620974) Hogan M.C. … Harris P.C. (Hum. Mol. Genet. 2003) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3 64
  4. [Preparation and characterization of a polyclonal antibody against human Fibrocystin-L]. (PMID: 21208571) Lian P.W. … Wu G.Q. (Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2011) 3 64
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64

Products for PKHD1L1 Gene

Sources for PKHD1L1 Gene

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