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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 CEMIP.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PKHD1L1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PKHD1L1 Gene at MOPED

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

Other Protein References for PKHD1L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for PKHD1L1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005829 cytosol TAS 21208571
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

Gene Ontology (GO) - Biological Process for PKHD1L1 Gene


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

Drugs & Compounds for PKHD1L1 Gene

No Compound Related Data Available

Transcripts for PKHD1L1 Gene

Unigene Clusters for PKHD1L1 Gene

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

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 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

SOURCE GeneReport for Unigene cluster for PKHD1L1 Gene Hs.170128

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

Protein tissue co-expression partners for PKHD1L1 Gene

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
(Canis familiaris)
Mammalia PKHD1L1 35
  • 89.16 (n)
  • 86.95 (a)
PKHD1L1 36
  • 86 (a)
(Mus musculus)
Mammalia Pkhd1l1 35
  • 84.04 (n)
  • 82 (a)
Pkhd1l1 16
Pkhd1l1 36
  • 82 (a)
(Pan troglodytes)
Mammalia PKHD1L1 35
  • 99.29 (n)
  • 99.03 (a)
PKHD1L1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Pkhd1l1 35
  • 84.07 (n)
  • 81.99 (a)
(Bos Taurus)
Mammalia PKHD1L1 36
  • 86 (a)
(Monodelphis domestica)
Mammalia PKHD1L1 36
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
-- 36
  • 79 (a)
-- 36
  • 75 (a)
-- 36
  • 80 (a)
-- 36
  • 62 (a)
(Gallus gallus)
Aves -- 36
  • 19 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486760 35
  • 61.88 (n)
  • 58 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17321 35
(Danio rerio)
Actinopterygii pkhd1l1 35
  • 58.04 (n)
  • 53.25 (a)
pkhd1l1 36
  • 52 (a)
PKHD1L1 (1 of 2) 36
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
-- 36
  • 42 (a)
-- 36
  • 39 (a)
Species with no ortholog for PKHD1L1:
  • 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
rs16879428 - 109,400,182(+) AGTTG(C/G)GTAGA nc-transcript-variant, reference, missense
rs964307 - 109,401,533(-) AAAAT(A/G)ACTGT nc-transcript-variant, reference, missense
rs4735133 - 109,425,155(+) AATTC(A/G/T)TATTC intron-variant, nc-transcript-variant, reference, missense
rs16879534 - 109,425,214(+) AAGCT(C/T)ATGGA intron-variant, nc-transcript-variant, reference, missense
rs35375999 - 109,427,026(+) AGCTG(A/C)AGATC intron-variant, nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv7843n71 CNV Loss 21882294
nsv891280 CNV Loss 21882294
nsv891281 CNV Loss 21882294
esv2554092 CNV Deletion 19546169
esv2027303 CNV Deletion 18987734
esv3548 CNV Deletion 18987735
esv7340 CNV Loss 19470904
esv2737425 CNV Deletion 23290073
nsv396947 CNV Loss 16902084

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)

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 and hepatic disease 1
- 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 23 67
  2. 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
  3. [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
  4. 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
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for PKHD1L1 Gene

Sources for PKHD1L1 Gene