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    WDR19 WD repeat domain 19 [ Homo sapiens (human) ]

    Gene ID: 57728, updated on 9-Jul-2021

    Summary

    Official Symbol
    WDR19provided by HGNC
    Official Full Name
    WD repeat domain 19provided by HGNC
    Primary source
    HGNC:HGNC:18340
    See related
    Ensembl:ENSG00000157796 MIM:608151
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATD5; CED4; DYF-2; FAP66; ORF26; Oseg6; PWDMP; SRTD5; IFT144; NPHP13
    Summary
    The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
    Expression
    Broad expression in thyroid (RPKM 9.7), testis (RPKM 8.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WDR19 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (39182473..39285810)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39184149..39287430)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 156 Neighboring gene uncharacterized LOC105374418 Neighboring gene kelch like family member 5 Neighboring gene Sharpr-MPRA regulatory region 13789 Neighboring gene RNA, U6 small nuclear 32, pseudogene Neighboring gene replication factor C subunit 1 Neighboring gene RNA, U6 small nuclear 887, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Asphyxiating thoracic dystrophy 5
    MedGen: C3280598 OMIM: 614376 GeneReviews: Not available
    Compare labs
    Cranioectodermal dysplasia 4
    MedGen: C3280616 OMIM: 614378 GeneReviews: Cranioectodermal Dysplasia
    Compare labs
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    GeneReviews: Not available
    Nephronophthisis 13
    MedGen: C3280612 OMIM: 614377 GeneReviews: Nephronophthisis
    Compare labs
    Senior-Loken syndrome 8
    MedGen: C4225376 OMIM: 616307 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ23127, KIAA1638

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ciliary receptor clustering involved in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in digestive system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myotome development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to ciliary membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    part_of intraciliary transport particle A IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in non-motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in photoreceptor connecting cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    WD repeat-containing protein 19
    Names
    WD repeat membrane protein PWDMP
    intraflagellar transport 144 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_031813.1 RefSeqGene

      Range
      5126..108407
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317924.2NP_001304853.1  WD repeat-containing protein 19 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1
      Source sequence(s)
      AK225588, AK294730
      UniProtKB/Swiss-Prot
      Q8NEZ3
      UniProtKB/TrEMBL
      B4DGR6
      Conserved Domains (8) summary
      COG0457
      Location:702982
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:2186
      WD40; WD40 repeat [General function prediction only]
      COG5290
      Location:672770
      COG5290; IkappaB kinase complex, IKAP component [Transcription]
      sd00006
      Location:619643
      TPR; TPR repeat [structural motif]
      pfam12773
      Location:10931135
      DZR; Double zinc ribbon
      pfam15911
      Location:348404
      WD40_3; WD domain, G-beta repeat
      sd00039
      Location:73112
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:114186
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_025132.4NP_079408.3  WD repeat-containing protein 19 isoform 1

      See identical proteins and their annotated locations for NP_079408.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB046858, AK026780, AK122908, AY029257, BC032578
      Consensus CDS
      CCDS47042.1
      UniProtKB/Swiss-Prot
      Q8NEZ3
      Related
      ENSP00000382717.3, ENST00000399820.8
      Conserved Domains (8) summary
      COG0457
      Location:8621142
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:19345
      WD40; WD40 repeat [General function prediction only]
      COG5290
      Location:832930
      COG5290; IkappaB kinase complex, IKAP component [Transcription]
      sd00006
      Location:779803
      TPR; TPR repeat [structural motif]
      pfam12773
      Location:12531295
      DZR; Double zinc ribbon
      pfam15911
      Location:508564
      WD40_3; WD domain, G-beta repeat
      sd00039
      Location:5798
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:26302
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      39182473..39285810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513725.2XP_011512027.1  WD repeat-containing protein 19 isoform X2

      Conserved Domains (8) summary
      COG0457
      Location:8441124
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:32323
      WD40; WD40 repeat [General function prediction only]
      COG5290
      Location:814912
      COG5290; IkappaB kinase complex, IKAP component [Transcription]
      sd00006
      Location:761785
      TPR; TPR repeat [structural motif]
      pfam12773
      Location:12351277
      DZR; Double zinc ribbon
      pfam15911
      Location:486542
      WD40_3; WD domain, G-beta repeat
      sd00039
      Location:3576
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:32324
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. XM_011513724.1XP_011512026.1  WD repeat-containing protein 19 isoform X1

      Conserved Domains (8) summary
      COG0457
      Location:8661146
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:19345
      WD40; WD40 repeat [General function prediction only]
      COG5290
      Location:836934
      COG5290; IkappaB kinase complex, IKAP component [Transcription]
      sd00006
      Location:783807
      TPR; TPR repeat [structural motif]
      pfam12773
      Location:12571299
      DZR; Double zinc ribbon
      pfam15911
      Location:508564
      WD40_3; WD domain, G-beta repeat
      sd00039
      Location:5798
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:26302
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. XM_011513726.3XP_011512028.1  WD repeat-containing protein 19 isoform X3

      See identical proteins and their annotated locations for XP_011512028.1

      Conserved Domains (8) summary
      COG0457
      Location:706986
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:2186
      WD40; WD40 repeat [General function prediction only]
      COG5290
      Location:676774
      COG5290; IkappaB kinase complex, IKAP component [Transcription]
      sd00006
      Location:623647
      TPR; TPR repeat [structural motif]
      pfam12773
      Location:10971139
      DZR; Double zinc ribbon
      pfam15911
      Location:348404
      WD40_3; WD domain, G-beta repeat
      sd00039
      Location:73112
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:114186
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    4. XM_011513727.1XP_011512029.1  WD repeat-containing protein 19 isoform X3

      See identical proteins and their annotated locations for XP_011512029.1

      Conserved Domains (8) summary
      COG0457
      Location:706986
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:2186
      WD40; WD40 repeat [General function prediction only]
      COG5290
      Location:676774
      COG5290; IkappaB kinase complex, IKAP component [Transcription]
      sd00006
      Location:623647
      TPR; TPR repeat [structural motif]
      pfam12773
      Location:10971139
      DZR; Double zinc ribbon
      pfam15911
      Location:348404
      WD40_3; WD domain, G-beta repeat
      sd00039
      Location:73112
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:114186
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    5. XM_017008501.1XP_016863990.1  WD repeat-containing protein 19 isoform X4

      UniProtKB/TrEMBL
      B4DGR6
      Conserved Domains (8) summary
      COG0457
      Location:702982
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:2186
      WD40; WD40 repeat [General function prediction only]
      COG5290
      Location:672770
      COG5290; IkappaB kinase complex, IKAP component [Transcription]
      sd00006
      Location:619643
      TPR; TPR repeat [structural motif]
      pfam12773
      Location:10931135
      DZR; Double zinc ribbon
      pfam15911
      Location:348404
      WD40_3; WD domain, G-beta repeat
      sd00039
      Location:73112
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:114186
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. XR_001741308.1 RNA Sequence

    2. XR_925155.1 RNA Sequence

    3. XR_001741306.1 RNA Sequence

    4. XR_001741310.1 RNA Sequence

    5. XR_001741309.1 RNA Sequence

    6. XR_001741307.1 RNA Sequence

      Related
      ENST00000506869.5
    7. XR_001741312.1 RNA Sequence

    8. XR_001741311.2 RNA Sequence

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