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PKHD1L1 PKHD1 like 1 [ Homo sapiens (human) ]

Gene ID: 93035, updated on 5-Mar-2024

Summary

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Official Symbol
PKHD1L1provided by HGNC
Official Full Name
PKHD1 like 1provided by HGNC
Primary source
HGNC:HGNC:20313
See related
Ensembl:ENSG00000205038 MIM:607843; AllianceGenome:HGNC:20313
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PKHDL1
Summary
Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in thyroid (RPKM 10.5) and lymph node (RPKM 0.8) See more
Orthologs
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Genomic context

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See PKHD1L1 in Genome Data Viewer
Location:
8q23.1-q23.2
Exon count:
79
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (109362461..109537207)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (110491005..110665782)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (110374690..110549436)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:110274967-110275602 Neighboring gene NudC domain containing 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:110332106-110332753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27805 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:110346420-110347342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19469 Neighboring gene ENY2 transcription and export complex 2 subunit Neighboring gene suppressor of cytokine signaling 5 pseudogene Neighboring gene mitogen-activated protein kinase 6 pseudogene 5 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:110534343-110535542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27811 Neighboring gene estrogen receptor binding site associated antigen 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27812 Neighboring gene NANOG hESC enhancer GRCh37_chr8:110625919-110626714 Neighboring gene syntabulin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:110656818-110657754 Neighboring gene SYBU antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. [Preparation and characterization of a polyclonal antibody against human Fibrocystin-L]. Lian PW, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2011 Jan. PMID 21208571
  2. [Role of PLAT, PKHD1L1, STK38L and TEAD1 genes Alu-polymorphism for longevity]. Erdman VV, et al. Adv Gerontol, 2016. PMID 28556638
  3. PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression. Hogan MC, et al. Hum Mol Genet, 2003 Mar 15. PMID 12620974
  4. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Systematic Multiomic Analysis of PKHD1L1 Gene Expression and Its Role as a Predicting Biomarker for Immune Cell Infiltration in Skin Cutaneous Melanoma and Lung Adenocarcinoma.
    Title: Systematic Multiomic Analysis of PKHD1L1 Gene Expression and Its Role as a Predicting Biomarker for Immune Cell Infiltration in Skin Cutaneous Melanoma and Lung Adenocarcinoma.
  2. High probability of detection of PKHD1L1*I/I had a Long-lived women and PKHD1L1*I/D genotype was a significant factor in providing of male longevity of the ethnically homogeneous group of Tatars from the Republic of Bashkortostan, Russia.
    Title: [Role of PLAT, PKHD1L1, STK38L and TEAD1 genes Alu-polymorphism for longevity].
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. PKHDL1 may have a role in cellular immunity
    Title: PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp586C1021

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables signaling receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in immune response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 PubMed 
located_in extracellular space NAS
Non-traceable Author Statement
more info
 PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in stereocilium coat IEA
Inferred from Electronic Annotation
more info
  
located_in stereocilium tip IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
fibrocystin-L
Names
PKHD1-like protein 1
polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1
polycystic kidney and hepatic disease 1-like protein 1
polycystic kidney and hepatic disease-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_177531.6 → NP_803875.2  fibrocystin-L precursor

    See identical proteins and their annotated locations for NP_803875.2

    Status: VALIDATED

    Source sequence(s)
    AC021001, AC021237, AI923283, AP000427
    Consensus CDS
    CCDS47911.1
    UniProtKB/Swiss-Prot
    Q567P2, Q86WI1, Q9UF27
    Related
    ENSP00000367655.5, ENST00000378402.10
    Conserved Domains (6) summary
    cd00603
    Location:271 → 363
    IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
    cd04217
    Location:1395 → 1498
    Cupredoxin_Fibrocystin-L_like; Cupredoxin domain of PKHDL1, a homolog of the autosomal recessive polycystic kidney disease protein
    pfam01833
    Location:1916 → 1997
    TIG; IPT/TIG domain
    pfam10162
    Location:2185 → 2303
    G8; G8 domain
    pfam13229
    Location:3328 → 3501
    Beta_helix; Right handed beta helix region
    cl08459
    Location:363 → 467
    PA14; PA14 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    109362461..109537207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517371.3 → XP_011515673.1  fibrocystin-L isoform X1

    Conserved Domains (6) summary
    cd00603
    Location:271 → 363
    IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
    cd04217
    Location:1395 → 1498
    Cupredoxin_Fibrocystin-L_like; Cupredoxin domain of PKHDL1, a homolog of the autosomal recessive polycystic kidney disease protein
    pfam01833
    Location:1916 → 1997
    TIG; IPT/TIG domain
    pfam10162
    Location:2185 → 2303
    G8; G8 domain
    pfam13229
    Location:3328 → 3501
    Beta_helix; Right handed beta helix region
    cl08459
    Location:363 → 467
    PA14; PA14 domain

  2. XM_017013971.2 → XP_016869460.2  fibrocystin-L isoform X3

  3. XM_047422421.1 → XP_047278377.1  fibrocystin-L isoform X4

  4. XM_047422420.1 → XP_047278376.1  fibrocystin-L isoform X2

  5. XM_047422422.1 → XP_047278378.1  fibrocystin-L isoform X5

  6. XM_017013974.2 → XP_016869463.2  fibrocystin-L isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    110491005..110665782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361509.1 → XP_054217484.1  fibrocystin-L isoform X3

  2. XM_054361510.1 → XP_054217485.1  fibrocystin-L isoform X4

  3. XM_054361508.1 → XP_054217483.1  fibrocystin-L isoform X2

  4. XM_054361507.1 → XP_054217482.1  fibrocystin-L isoform X1

  5. XM_054361511.1 → XP_054217486.1  fibrocystin-L isoform X5

  6. XM_054361512.1 → XP_054217487.1  fibrocystin-L isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86WI1.2 GenPept UniProtKB/Swiss-Prot:Q86WI1

Gene LinkOut

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