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WDR93 WD repeat domain 93 [ Homo sapiens (human) ]

Gene ID: 56964, updated on 5-Mar-2024

Summary

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Official Symbol
WDR93provided by HGNC
Official Full Name
WD repeat domain 93provided by HGNC
Primary source
HGNC:HGNC:26924
See related
Ensembl:ENSG00000140527 MIM:619891; AllianceGenome:HGNC:26924
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
C1d-87; FAP297; CFAP297
Summary
Predicted to enable oxidoreductase activity, acting on NAD(P)H. Predicted to be involved in electron transport chain. Predicted to be part of mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 3.2), prostate (RPKM 0.4) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
15q26.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89690348..89743638)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87446227..87499521)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90234042..90286869)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6802 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90215543-90215807 Neighboring gene Sharpr-MPRA regulatory region 3473 Neighboring gene perilipin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10054 Neighboring gene peroxisomal biogenesis factor 11 alpha Neighboring gene ribosomal protein L36a pseudogene 43 Neighboring gene RNA, U6 small nuclear 132, pseudogene Neighboring gene mesoderm posterior bHLH transcription factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6804 Neighboring gene mitochondrial ribosomal protein L15 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90310867-90311584 Neighboring gene uncharacterized LOC124903550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6806 Neighboring gene mesoderm posterior bHLH transcription factor 2

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
  • 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. A FAP46 mutant provides new insights into the function and assembly of the C1d complex of the ciliary central apparatus. Brown JM, et al. J Cell Sci, 2012 Aug 15. PMID 22573824, Free PMC Article
  2. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Alazami AM, et al. Cell Rep, 2015 Jan 13. PMID 25558065
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. 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
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

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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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in electron transport chain IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
WD repeat-containing protein 93

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.

Genomic

  1. NG_051641.1 RefSeqGene

    Range
    5738..58565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001284395.2 → NP_001271324.1  WD repeat-containing protein 93 isoform 2

    See identical proteins and their annotated locations for NP_001271324.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC079075, AK097525, BC064626
    Consensus CDS
    CCDS66862.1
    UniProtKB/Swiss-Prot
    Q6P2C0
    Related
    ENSP00000453971.1, ENST00000560294.5

  2. NM_001284396.2 → NP_001271325.1  WD repeat-containing protein 93 isoform 3

    See identical proteins and their annotated locations for NP_001271325.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' coding exons and its 3' terminal exon extends past a splice site that is used in variant 1, resulting in a different 3' coding region and 3' UTR. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC079075, BC051026, BC064626
    Consensus CDS
    CCDS73779.1
    UniProtKB/TrEMBL
    B4E3E2
    Related
    ENSP00000453022.1, ENST00000558000.1

  3. NM_020212.2 → NP_064597.1  WD repeat-containing protein 93 isoform 1

    See identical proteins and their annotated locations for NP_064597.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC064626
    Consensus CDS
    CCDS32326.1
    UniProtKB/Swiss-Prot
    Q6P2C0, Q8N7Y8, Q9NP89
    Related
    ENSP00000268130.7, ENST00000268130.12

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    89690348..89743638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521794.3 → XP_011520096.1  WD repeat-containing protein 93 isoform X1

    See identical proteins and their annotated locations for XP_011520096.1

  2. XM_011521795.2 → XP_011520097.1  WD repeat-containing protein 93 isoform X1

    See identical proteins and their annotated locations for XP_011520097.1

  3. XM_006720614.2 → XP_006720677.1  WD repeat-containing protein 93 isoform X1

    See identical proteins and their annotated locations for XP_006720677.1

  4. XM_011521796.3 → XP_011520098.1  WD repeat-containing protein 93 isoform X3

  5. XM_006720615.2 → XP_006720678.1  WD repeat-containing protein 93 isoform X2

  6. XM_006720618.2 → XP_006720681.1  WD repeat-containing protein 93 isoform X6

  7. XM_011521802.2 → XP_011520104.1  WD repeat-containing protein 93 isoform X8

  8. XM_047432869.1 → XP_047288825.1  WD repeat-containing protein 93 isoform X7

  9. XM_047432871.1 → XP_047288827.1  WD repeat-containing protein 93 isoform X9

    UniProtKB/TrEMBL
    B4E3E2

  10. XM_047432868.1 → XP_047288824.1  WD repeat-containing protein 93 isoform X4

  11. XM_024449994.2 → XP_024305762.1  WD repeat-containing protein 93 isoform X5

RNA

  1. XR_931869.2 RNA Sequence

  2. XR_931870.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    87446227..87499521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378463.1 → XP_054234438.1  WD repeat-containing protein 93 isoform X1

  2. XM_054378462.1 → XP_054234437.1  WD repeat-containing protein 93 isoform X1

  3. XM_054378461.1 → XP_054234436.1  WD repeat-containing protein 93 isoform X1

  4. XM_054378465.1 → XP_054234440.1  WD repeat-containing protein 93 isoform X3

  5. XM_054378464.1 → XP_054234439.1  WD repeat-containing protein 93 isoform X2

  6. XM_054378467.1 → XP_054234442.1  WD repeat-containing protein 93 isoform X6

  7. XM_054378469.1 → XP_054234444.1  WD repeat-containing protein 93 isoform X8

  8. XM_054378468.1 → XP_054234443.1  WD repeat-containing protein 93 isoform X7

  9. XM_054378470.1 → XP_054234445.1  WD repeat-containing protein 93 isoform X9

  10. XM_054378466.1 → XP_054234441.1  WD repeat-containing protein 93 isoform X5

RNA

  1. XR_008488993.1 RNA Sequence

  2. XR_008488994.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P2C0.1 GenPept UniProtKB/Swiss-Prot:Q6P2C0

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