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    PKHD1L1 PKHD1 like 1 [ Homo sapiens (human) ]

    Gene ID: 93035, updated on 3-Apr-2018
    Official Symbol
    PKHD1L1provided by HGNC
    Official Full Name
    PKHD1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:20313
    See related
    Ensembl:ENSG00000205038 MIM:607843; Vega:OTTHUMG00000164934
    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
    Expression
    Biased expression in thyroid (RPKM 10.5) and lymph node (RPKM 0.8) See more
    Orthologs
    Location:
    8q23.1-q23.2
    Exon count:
    79
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (109362477..109537214)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (110374706..110543500)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene NudC domain containing 1 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 estrogen receptor binding site associated, antigen, 9 Neighboring gene syntabulin Neighboring gene uncharacterized LOC100132813

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Clone Names

    • DKFZp586C1021

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cilium IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular space NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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

    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_177531.5NP_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
      Q86WI1
      Related
      ENSP00000367655.5, OTTHUMP00000227951, ENST00000378402.9
      Conserved Domains (6) summary
      cd00603
      Location:271363
      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:13951498
      Cupredoxin_Fibrocystin-L_like; Cupredoxin domain of PKHDL1, a homolog of the autosomal recessive polycystic kidney disease protein
      pfam01833
      Location:19161997
      TIG; IPT/TIG domain
      pfam10162
      Location:21852303
      G8; G8 domain
      pfam13229
      Location:33283501
      Beta_helix; Right handed beta helix region
      cl08459
      Location:363467
      PA14; PA14 domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      109362477..109537214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517371.2XP_011515673.1  fibrocystin-L isoform X2

      Conserved Domains (6) summary
      cd00603
      Location:271363
      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:13951498
      Cupredoxin_Fibrocystin-L_like; Cupredoxin domain of PKHDL1, a homolog of the autosomal recessive polycystic kidney disease protein
      pfam01833
      Location:19161997
      TIG; IPT/TIG domain
      pfam10162
      Location:21852303
      G8; G8 domain
      pfam13229
      Location:33283501
      Beta_helix; Right handed beta helix region
      cl08459
      Location:363467
      PA14; PA14 domain
    2. XM_017013969.1XP_016869458.1  fibrocystin-L isoform X1

    3. XM_017013971.1XP_016869460.1  fibrocystin-L isoform X4

    4. XM_017013972.1XP_016869461.1  fibrocystin-L isoform X5

    5. XM_017013970.1XP_016869459.1  fibrocystin-L isoform X3

    6. XM_017013973.1XP_016869462.1  fibrocystin-L isoform X6

    7. XM_017013974.1XP_016869463.1  fibrocystin-L isoform X7

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