Q80ZA4 · PKHL1_MOUSE

  • Protein
    Fibrocystin-L
  • Gene
    Pkhd1l1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    4/5

Function

function

Component of hair-cell stereocilia coat. Required for normal hearing.

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentmembrane
Cellular Componentstereocilium coat
Cellular Componentstereocilium tip
Biological Processsensory perception of sound

Names & Taxonomy

Protein names

  • Recommended name
    Fibrocystin-L
  • Alternative names
    • Polycystic kidney and hepatic disease 1-like protein 1 (PKHD1-like protein 1)
    • Protein D86

Gene names

    • Name
      Pkhd1l1

Organism names

  • Taxonomic identifier
  • Strain
    • C57BL/6J
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus

Accessions

  • Primary accession
    Q80ZA4
  • Secondary accessions
    • Q99PS9

Proteomes

Organism-specific databases

Subcellular Location

Membrane
; Single-pass membrane protein
Note: Predominantly located at the upper half of the stereocilia of inner ear outer hair cell.

Features

Showing features for topological domain, transmembrane.

TypeIDPosition(s)Description
Topological domain21-4222Extracellular
Transmembrane4223-4243Helical
Topological domain4244-4249Cytoplasmic

Keywords

PTM/Processing

Features

Showing features for signal, chain, glycosylation.

TypeIDPosition(s)Description
Signal1-20
ChainPRO_000031857321-4249Fibrocystin-L
Glycosylation1297O-linked (GalNAc...) threonine
Glycosylation1359O-linked (GalNAc...) threonine
Glycosylation1838O-linked (GalNAc...) threonine
Glycosylation3735O-linked (GalNAc...) threonine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Expressed in neurons in the hippocampus and the cerebral cortex (at protein level) (PubMed:36067019).
Transiently expressed at high levels in inner ear hair cells, predominantly in outer hair cells, during early postnatal development (at protein level) (PubMed:31444330).

Developmental stage

Expression in inner ear hair cells starts at birth (P0) and remains strong from P2 to P7. Expression gradually decreases from P9 to P12 and is no longer detected at P14. Very low expression, if any, at 16 dpc.

Gene expression databases

Interaction

Protein-protein interaction databases

Miscellaneous

Structure

3D structure databases

Family & Domains

Features

Showing features for domain, repeat, region.

TypeIDPosition(s)Description
Domain31-132IPT/TIG 1
Domain146-255IPT/TIG 2
Domain270-361IPT/TIG 3
Domain337-492PA14
Domain1067-1153IPT/TIG 4
Domain1155-1234IPT/TIG 5
Domain1240-1323IPT/TIG 6
Domain1329-1468IPT/TIG 7
Domain1565-1648IPT/TIG 8
Domain1658-1742IPT/TIG 9
Domain1748-1827IPT/TIG 10
Domain1830-1909IPT/TIG 11
Domain1915-1996IPT/TIG 12
Domain1998-2084IPT/TIG 13
Domain2090-2175IPT/TIG 14
Domain2183-2303G8 1
Repeat2484-2506PbH1 1
Repeat2507-2529PbH1 2
Repeat2565-2587PbH1 3
Repeat2664-2686PbH1 4
Repeat2732-2755PbH1 5
Domain3035-3173G8 2
Repeat3292-3314PbH1 6
Repeat3354-3376PbH1 7
Repeat3415-3437PbH1 8
Repeat3470-3492PbH1 9
Repeat3493-3514PbH1 10
Region4183-4208Disordered

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.

This entry describes 2 isoforms produced by Alternative splicing.

Q80ZA4-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    4,249
  • Mass (Da)
    464,732
  • Last updated
    2003-06-01 v1
  • Checksum
    797F6AE92407B148

Q80ZA4-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 2 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
E9PUU8E9PUU8_MOUSEPkhd1l14249
F8WH29F8WH29_MOUSEPkhd1l14247

Features

Showing features for alternative sequence.

TypeIDPosition(s)Description
Alternative sequenceVSP_0312261926-1944in isoform 2
Alternative sequenceVSP_0312271945-4249in isoform 2

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AY219182
EMBL· GenBank· DDBJ
AAO60073.1
EMBL· GenBank· DDBJ
mRNA
AB055648
EMBL· GenBank· DDBJ
BAB32449.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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