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    WDR47 WD repeat domain 47 [ Homo sapiens (human) ]

    Gene ID: 22911, updated on 8-Jul-2021

    Summary

    Official Symbol
    WDR47provided by HGNC
    Official Full Name
    WD repeat domain 47provided by HGNC
    Primary source
    HGNC:HGNC:29141
    See related
    Ensembl:ENSG00000085433 MIM:615734
    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
    Expression
    Broad expression in brain (RPKM 29.8), testis (RPKM 15.2) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See WDR47 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (108970211..109042113, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109512836..109584724, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985159 Neighboring gene G protein signaling modulator 2 Neighboring gene chloride channel CLIC like 1 Neighboring gene NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 pseudogene Neighboring gene ribosomal protein L17 pseudogene 7 Neighboring gene ribosomal protein S27 pseudogene 6 Neighboring gene RAN pseudogene 5 Neighboring gene TATA-box binding protein associated factor 13

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ90135, KIAA0893

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    WD repeat-containing protein 47
    Names
    nemitin
    neuronal enriched MAP-interacting protein

    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.

    mRNA and Protein(s)

    1. NM_001142550.2NP_001136022.1  WD repeat-containing protein 47 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK225781, BM793705, DA221069
      Consensus CDS
      CCDS44186.1
      UniProtKB/Swiss-Prot
      O94967
      Related
      ENSP00000383599.3, ENST00000400794.7
      Conserved Domains (4) summary
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      cd00200
      Location:614923
      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 ...
      sd00039
      Location:619667
      7WD40; WD40 repeat [structural motif]
      pfam17814
      Location:1340
      LisH_TPL; LisH-like dimerisation domain
    2. NM_001142551.2NP_001136023.1  WD repeat-containing protein 47 isoform 3

      See identical proteins and their annotated locations for NP_001136023.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses several alternate in-frame splice sites in the 5' coding region, compared to variant 1, resulting in a protein (isoform 3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AB020700, AK225781, BC039254, BM793705, DA221069
      Consensus CDS
      CCDS44187.1
      UniProtKB/Swiss-Prot
      O94967
      Related
      ENSP00000358979.3, ENST00000369962.8
      Conserved Domains (5) summary
      smart00667
      Location:942
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      COG2319
      Location:545918
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:606915
      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 ...
      sd00039
      Location:611659
      7WD40; WD40 repeat [structural motif]
    3. NM_014969.6NP_055784.3  WD repeat-containing protein 47 isoform 2

      See identical proteins and their annotated locations for NP_055784.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a protein (isoform 2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK225781, AK289789, BM793705
      Consensus CDS
      CCDS30787.1
      UniProtKB/Swiss-Prot
      O94967
      Related
      ENSP00000358982.4, ENST00000369965.8
      Conserved Domains (5) summary
      smart00667
      Location:942
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      COG2319
      Location:546919
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:607916
      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 ...
      sd00039
      Location:612660
      7WD40; WD40 repeat [structural motif]

    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_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      108970211..109042113 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541028.3XP_011539330.1  WD repeat-containing protein 47 isoform X5

      See identical proteins and their annotated locations for XP_011539330.1

      Related
      ENSP00000350301.4, ENST00000357672.7
      Conserved Domains (5) summary
      smart00667
      Location:942
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      COG2319
      Location:545920
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:606917
      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 ...
      sd00039
      Location:611659
      7WD40; WD40 repeat [structural motif]
    2. XM_006710460.4XP_006710523.1  WD repeat-containing protein 47 isoform X4

      See identical proteins and their annotated locations for XP_006710523.1

      Conserved Domains (5) summary
      smart00667
      Location:942
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      COG2319
      Location:546921
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:607918
      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 ...
      sd00039
      Location:612660
      7WD40; WD40 repeat [structural motif]
    3. XM_011541027.3XP_011539329.1  WD repeat-containing protein 47 isoform X2

      Conserved Domains (4) summary
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      cd00200
      Location:613924
      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 ...
      sd00039
      Location:618666
      7WD40; WD40 repeat [structural motif]
      pfam17814
      Location:1340
      LisH_TPL; LisH-like dimerisation domain
    4. XM_011541029.2XP_011539331.1  WD repeat-containing protein 47 isoform X1

      Conserved Domains (4) summary
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      cd00200
      Location:614925
      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 ...
      sd00039
      Location:619667
      7WD40; WD40 repeat [structural motif]
      pfam17814
      Location:1340
      LisH_TPL; LisH-like dimerisation domain
    5. XM_011541030.1XP_011539332.1  WD repeat-containing protein 47 isoform X4

      See identical proteins and their annotated locations for XP_011539332.1

      Conserved Domains (5) summary
      smart00667
      Location:942
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      COG2319
      Location:546921
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:607918
      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 ...
      sd00039
      Location:612660
      7WD40; WD40 repeat [structural motif]
    6. XM_024454177.1XP_024309945.1  WD repeat-containing protein 47 isoform X1

      Conserved Domains (4) summary
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      cd00200
      Location:614925
      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 ...
      sd00039
      Location:619667
      7WD40; WD40 repeat [structural motif]
      pfam17814
      Location:1340
      LisH_TPL; LisH-like dimerisation domain
    7. XM_011541031.1XP_011539333.1  WD repeat-containing protein 47 isoform X7

      Conserved Domains (2) summary
      cd00200
      Location:514825
      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 ...
      sd00039
      Location:519567
      7WD40; WD40 repeat [structural motif]
    8. XM_017000696.2XP_016856185.1  WD repeat-containing protein 47 isoform X3

    9. XM_017000697.2XP_016856186.1  WD repeat-containing protein 47 isoform X6

      UniProtKB/Swiss-Prot
      O94967
      Conserved Domains (5) summary
      smart00667
      Location:942
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:45102
      CTLH; C-terminal to LisH motif
      COG2319
      Location:545918
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:606915
      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 ...
      sd00039
      Location:611659
      7WD40; WD40 repeat [structural motif]
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