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PKHD1L1 PKHD1 like 1 [ Homo sapiens (human) ]

Gene ID: 93035, updated on 5-Jul-2025
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; DFNB124
Summary
Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]
Expression
Biased expression in thyroid (RPKM 10.5) and lymph node (RPKM 0.8) See more
Orthologs
mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (109362461..109537207)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (110491005..110665782)
RS_2024_09 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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  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. Kang JY, et al. Int J Mol Sci, 2023 Dec 26. PMID 38203530, Free PMC Article
  2. [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
  3. PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Redfield SE, et al. Hum Genet, 2024 Mar. PMID 38459354, Free PMC Article
  4. [Role of PLAT, PKHD1L1, STK38L and TEAD1 genes Alu-polymorphism for longevity]. Erdman VV, et al. Adv Gerontol, 2016. PMID 28556638
  5. 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

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
    Title: PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
  2. 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.
  3. 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].
  4. 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.
  5. 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

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 124
MedGen: C5935612 OMIM: 620794 GeneReviews: Not available
not available

EBI GWAS Catalog

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

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

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 
acts_upstream_of_or_within sensory perception of sound IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in stereocilium coat IEA
Inferred from Electronic Annotation
more info
  
located_in stereocilium membrane IEA
Inferred from Electronic Annotation
more info
  
located_in stereocilium tip IEA
Inferred from Electronic Annotation
more info
  
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

NEW Try the new Transcript table

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_2024_08

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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