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

Gene ID: 22911, updated on 11-Sep-2019

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

Genomic context

See WDR47 in Genome Data Viewer
Location:
1p13.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (108970211..109042228, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109512835..109584860, 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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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)

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_001142550.1NP_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 (5) summary
    smart00667
    Location:942
    LisH; Lissencephaly type-1-like homology motif
    smart00668
    Location:45102
    CTLH; C-terminal to LisH motif
    COG2319
    Location:553926
    WD40; WD40 repeat [General function prediction only]
    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]
  2. NM_001142551.1NP_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, ENST00000369962.7
    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: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_014969.5NP_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, DA221069
    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 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.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    108970211..109042228 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 (5) summary
    smart00667
    Location:942
    LisH; Lissencephaly type-1-like homology motif
    smart00668
    Location:45102
    CTLH; C-terminal to LisH motif
    COG2319
    Location:552927
    WD40; WD40 repeat [General function prediction only]
    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]
  4. XM_011541029.2XP_011539331.1  WD repeat-containing protein 47 isoform X1

    Conserved Domains (3) 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]
  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 (3) 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]
  7. XM_011541031.1XP_011539333.1  WD repeat-containing protein 47 isoform X7

    Conserved Domains (3) summary
    COG2319
    Location:453828
    WD40; WD40 repeat [General function prediction only]
    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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