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    WDR38 WD repeat domain 38 [ Homo sapiens (human) ]

    Gene ID: 401551, updated on 2-Nov-2024

    Summary

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    Official Symbol
    WDR38provided by HGNC
    Official Full Name
    WD repeat domain 38provided by HGNC
    Primary source
    HGNC:HGNC:23745
    See related
    Ensembl:ENSG00000136918 AllianceGenome:HGNC:23745
    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
    Summary
    Predicted to act upstream of or within hematopoietic progenitor cell differentiation. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lung (RPKM 2.9), testis (RPKM 2.5) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR38 in Genome Data Viewer
    Location:
    9q33.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (124853460..124857878)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (137051771..137056188)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (127615739..127620157)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:127533372-127533939 Neighboring gene uncharacterized LOC107987126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20267 Neighboring gene olfactomedin like 2A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127561206-127561720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127561721-127562234 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127573487-127573987 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127573988-127574490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127574992-127575493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127596476-127597087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127597088-127597698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127602031-127602634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127602635-127603237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20268 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:127618044-127618212 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:127620824-127621106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127621747-127622248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127622249-127622748 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127623737-127624360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28993 Neighboring gene ribosomal protein L35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28996 Neighboring gene actin related protein 2/3 complex subunit 5 like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127634813-127635313

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis. Gao Q, et al. Acta Biochim Biophys Sin (Shanghai), 2023 Oct 25. PMID 37635409, Free PMC Article
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis.
      Title: WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 38

    NCBI Reference Sequences (RefSeq)

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    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_001045476.3 → NP_001038941.1  WD repeat-containing protein 38 isoform 2

      See identical proteins and their annotated locations for NP_001038941.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal aa, compared to isoform 1.
      Source sequence(s)
      AA867995, AL354928, BC150645
      Consensus CDS
      CCDS43876.1
      UniProtKB/Swiss-Prot
      A0PK24, Q5JTN6
      UniProtKB/TrEMBL
      B9EK65
      Related
      ENSP00000362677.1, ENST00000373574.2
      Conserved Domains (3) summary
      COG2319
      Location:11 → 298
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:20 → 300
      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:26 → 61
      7WD40; WD40 repeat [structural motif]

    2. NM_001276374.2 → NP_001263303.1  WD repeat-containing protein 38 isoform 1

      See identical proteins and their annotated locations for NP_001263303.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA867995, AL354928, BC171828, BC171830
      Consensus CDS
      CCDS75898.1
      UniProtKB/TrEMBL
      A0A087X0D8, B7ZW23
      Related
      ENSP00000483312.1, ENST00000613760.4
      Conserved Domains (3) summary
      COG2319
      Location:11 → 299
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:20 → 301
      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:26 → 61
      7WD40; WD40 repeat [structural motif]

    3. NM_001276375.2 → NP_001263304.1  WD repeat-containing protein 38 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AA867995, AL354928, BC171830
      UniProtKB/TrEMBL
      B7ZW24
      Conserved Domains (2) summary
      cd00200
      Location:11 → 290
      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:56 → 92
      7WD40; WD40 repeat [structural motif]

    4. NM_001276376.2 → NP_001263305.1  WD repeat-containing protein 38 isoform 4

      See identical proteins and their annotated locations for NP_001263305.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) initiates translation at an alternate downstream start codon and has a distinct and shorter internal segment in the CDS, compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA867995, AL354928, BC171837
      Consensus CDS
      CCDS75899.1
      UniProtKB/TrEMBL
      A0A087X0J1
      Related
      ENSP00000483432.1, ENST00000618744.4
      Conserved Domains (2) summary
      cd00200
      Location:54 → 250
      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:60 → 96
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      124853460..124857878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251987.5 → XP_005252044.1  WD repeat-containing protein 38 isoform X1

      UniProtKB/TrEMBL
      B7ZW23
      Conserved Domains (3) summary
      COG2319
      Location:11 → 272
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:20 → 274
      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:26 → 61
      7WD40; WD40 repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      137051771..137056188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362974.1 → XP_054218949.1  WD repeat-containing protein 38 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JTN6.1 GenPept UniProtKB/Swiss-Prot:Q5JTN6

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