U.S. flag

An official website of the United States government

PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ Pongo abelii (Sumatran orangutan) ]

Gene ID: 100127091, updated on 3-Dec-2024

Summary

Gene symbol
PKHD1
Gene description
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Locus tag
CR201_G0041322
See related
Ensembl:ENSPPYG00000016702
Gene type
protein coding
RefSeq status
MODEL
Organism
Pongo abelii
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Pongo
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PKHD1 in Genome Data Viewer
Location:
chromosome: 5
Exon count:
68
Annotation release Status Assembly Chr Location
RS_2024_02 current NHGRI_mPonAbe1-v2.0_pri (GCF_028885655.2) 5 NC_071990.2 (52063370..52548541, complement)
RS_2023_04 previous assembly NHGRI_mPonAbe1-v1.1-hic.freeze_pri (GCF_028885655.1) 6 NC_071991.1 (51868140..52339504, complement)

Chromosome 5 - NC_071990.2Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134761522 Neighboring gene small nucleolar RNA SNORD66 Neighboring gene small ribosomal subunit protein uS8-like Neighboring gene uncharacterized LOC103890909 Neighboring gene uncharacterized LOC129059955 Neighboring gene uncharacterized LOC112133808 Neighboring gene interleukin 17A

Genomic regions, transcripts, and products

General protein information

Preferred Names
PKHD1 ciliary IPT domain containing fibrocystin/polyductin; fibrocystin
Names
PKHD1, fibrocystin/polyductin
polycystic kidney and hepatic disease 1 (autosomal recessive)

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs of Annotated Genomes: GCF_028885655.2-RS_2024_02

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

Reference NHGRI_mPonAbe1-v2.0_pri Primary Assembly

Genomic

  1. NC_071990.2 Reference NHGRI_mPonAbe1-v2.0_pri Primary Assembly

    Range
    52063370..52548541 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024248417.3XP_024104185.3  fibrocystin isoform X1

    UniProtKB/TrEMBL
    A0A2J8SQ15, H2PJC2
  2. XM_009241952.4XP_009240227.4  fibrocystin isoform X2

    UniProtKB/TrEMBL
    A0A2J8SQ11, A0A8I5U9F5
External link. Please review our privacy policy.