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PKHD1L1 PKHD1 like 1 [ Homo sapiens (human) ]

Gene ID: 93035, updated on 12-Mar-2017
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
Orthologs
Location:
8q23.1-q23.2
Exon count:
79
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (109362477..109536809)
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
receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
immune response NAS
Non-traceable Author Statement
more info
PubMed 
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_177531.4NP_803875.2  fibrocystin-L precursor

    See identical proteins and their annotated locations for NP_803875.2

    Status: VALIDATED

    Source sequence(s)
    AC021001, AP000427, AY219181
    Consensus CDS
    CCDS47911.1
    UniProtKB/Swiss-Prot
    Q86WI1
    Related
    ENSP00000367655, OTTHUMP00000227951, ENST00000378402, OTTHUMT00000381017
    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 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

    Range
    109362477..109536809
    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

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    110414966..110583773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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