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Pkhd1l1 polycystic kidney and hepatic disease 1-like 1 [ Mus musculus (house mouse) ]

Gene ID: 192190, updated on 2-Nov-2024

Summary

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Official Symbol
Pkhd1l1provided by MGI
Official Full Name
polycystic kidney and hepatic disease 1-like 1provided by MGI
Primary source
MGI:MGI:2183153
See related
Ensembl:ENSMUSG00000038725 AllianceGenome:MGI:2183153
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PKHDL1
Summary
Acts upstream of or within sensory perception of sound. Located in stereocilium coat and stereocilium tip. Is expressed in central nervous system and genitourinary system. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human PKHD1L1 (PKHD1 like 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in liver E14 (RPKM 4.1), liver E14.5 (RPKM 4.1) and 11 other tissues See more
Orthologs
human all
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Genomic context

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See Pkhd1l1 in Genome Data Viewer
Location:
15 B3.2; 15 16.91 cM
Exon count:
82
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (44320792..44464772)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (44457396..44601376)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene NudC domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E2440 Neighboring gene predicted gene, 22392 Neighboring gene ENY2 transcription and export complex 2 subunit Neighboring gene STARR-positive B cell enhancer ABC_E10853 Neighboring gene STARR-positive B cell enhancer ABC_E7366 Neighboring gene STARR-seq mESC enhancer starr_38573 Neighboring gene estrogen receptor-binding fragment-associated gene 9 Neighboring gene STARR-seq mESC enhancer starr_38574 Neighboring gene syntabulin (syntaxin-interacting) Neighboring gene RIKEN cDNA 2310069G16 gene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Deficit of PKHD1L1 in the dentate gyrus increases seizure susceptibility in mice. Yu J, et al. Hum Mol Genet, 2023 Jan 13. PMID 36067019
  2. PKHD1L1 is a coat protein of hair-cell stereocilia and is required for normal hearing. Wu X, et al. Nat Commun, 2019 Aug 23. PMID 31444330, Free PMC Article
  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. The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence. Follit JA, et al. J Cell Biol, 2010 Jan 11. PMID 20048263, Free PMC Article
  5. Arf4 is required for Mammalian development but dispensable for ciliary assembly. Follit JA, et al. PLoS Genet, 2014 Feb. PMID 24586199, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deficit of PKHD1L1 in the dentate gyrus increases seizure susceptibility in mice.
    Title: Deficit of PKHD1L1 in the dentate gyrus increases seizure susceptibility in mice.
  2. Study showed that Pkhd1l1 is expressed at the tips of stereocilia, especially in the high-frequency regions of the cochlea. Pkhd1l1-deficient mice lack the surface coat at the upper but not lower regions of stereocilia, and they develop progressive hearing loss. Results suggest that Pkhd1l1 is a component of the surface coat and is required for normal hearing in mice.
    Title: PKHD1L1 is a coat protein of hair-cell stereocilia and is required for normal hearing.
  3. show that the fibrocystin ciliary targeting sequence is an 18-residue motif localized in the cytoplasmic tail.
    Title: The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence.
  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

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 
  • Targeted (2)  1 citation

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in stereocilium coat IDA
Inferred from Direct Assay
more info
 PubMed 
located_in stereocilium membrane IEA
Inferred from Electronic Annotation
more info
  
located_in stereocilium tip IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
fibrocystin-L
Names
PKHD1-like protein 1
fibrocystin L
polycystic kidney and hepatic disease 1-like protein 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_138674.3 → NP_619615.2  fibrocystin-L precursor

    See identical proteins and their annotated locations for NP_619615.2

    Status: VALIDATED

    Source sequence(s)
    AC127312, AC128736, AY219182
    Consensus CDS
    CCDS84169.1
    UniProtKB/Swiss-Prot
    Q80ZA4, Q99PS9
    UniProtKB/TrEMBL
    F8WH29
    Related
    ENSMUSP00000147447.2, ENSMUST00000209244.2
    Conserved Domains (6) summary
    cd00603
    Location:270 → 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 ...
    pfam01833
    Location:1830 → 1909
    TIG; IPT/TIG domain
    pfam10162
    Location:2184 → 2302
    G8; G8 domain
    pfam13229
    Location:3327 → 3506
    Beta_helix; Right handed beta helix region
    cl08459
    Location:363 → 467
    PA14; PA14 domain
    cl19115
    Location:1394 → 1497
    Cupredoxin; Cupredoxin superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    44320792..44464772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011245522.3 → XP_011243824.1  fibrocystin-L isoform X1

    Conserved Domains (6) summary
    cd00603
    Location:270 → 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 ...
    pfam01833
    Location:1915 → 1996
    TIG; IPT/TIG domain
    pfam10162
    Location:2184 → 2302
    G8; G8 domain
    cl08459
    Location:341 → 467
    PA14; PA14 domain
    cl15674
    Location:1830 → 1909
    IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    cl19115
    Location:1394 → 1497
    Cupredoxin; Cupredoxin superfamily

RNA

  1. XR_383993.4 RNA Sequence

  2. XR_875261.3 RNA Sequence

  3. XR_875262.3 RNA Sequence

  4. XR_875263.3 RNA Sequence

  5. XR_875264.3 RNA Sequence

  6. XR_875266.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80ZA4.1 GenPept UniProtKB/Swiss-Prot:Q80ZA4

Gene LinkOut

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