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    WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 151525, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WDSUB1provided by HGNC
    Official Full Name
    WD repeat, sterile alpha motif and U-box domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26697
    See related
    Ensembl:ENSG00000196151 MIM:620802; AllianceGenome:HGNC:26697
    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
    UBOX6; WDSAM1
    Summary
    Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.8), kidney (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDSUB1 in Genome Data Viewer
    Location:
    2q24.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (159235798..159286703, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (159695595..159746544, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (160092309..160143214, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:159920830-159921358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16682 Neighboring gene glutathione S-transferase mu 3 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 14439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159980099-159980612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159980613-159981124 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53540 Neighboring gene Sharpr-MPRA regulatory region 14614 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53569 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16684 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:160067858-160068472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:160081586-160082095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:160082096-160082604 Neighboring gene uncharacterized LOC105373716 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53624 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53635 Neighboring gene microRNA 6888 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53665 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:160113609-160113777 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:160128197-160128698 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:160128699-160129198 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53748 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:160143174-160143343 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:160205700-160206899 Neighboring gene bromodomain adjacent to zinc finger domain 2B Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:160294250-160295449 Neighboring gene Sharpr-MPRA regulatory region 4770 Neighboring gene CAPZA1 pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53833 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:160455742-160456242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:160471010-160471538 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:160472595-160473121 Neighboring gene BAZ2B antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Ancient origin of animal U-box ubiquitin ligases. Marín I. BMC Evol Biol, 2010 Oct 27. PMID 20979629, Free PMC Article
    2. The F-box protein FBXO25 promotes the proteasome-dependent degradation of ELK-1 protein. Teixeira FR, et al. J Biol Chem, 2013 Sep 27. PMID 23940030, Free PMC Article
    3. Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation. Kim SO, et al. Int J Mol Sci, 2021 Jul 15. PMID 34299191, Free PMC Article
    4. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621

    See all (11) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36175, 2610014F08Rik

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin-protein transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat, SAM and U-box domain-containing protein 1

    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_001128212.3 → NP_001121684.1  WD repeat, SAM and U-box domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001121684.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AK093494, AL040518, CB240898, DR000438
      Consensus CDS
      CCDS2208.1
      UniProtKB/Swiss-Prot
      Q53TI9, Q8N6N8, Q8N9V3
      Related
      ENSP00000352820.4, ENST00000359774.9
      Conserved Domains (6) summary
      cd09505
      Location:328 → 399
      SAM_WDSUB1; SAM domain of WDSUB1 proteins
      smart00454
      Location:332 → 395
      SAM; Sterile alpha motif
      COG2319
      Location:2 → 308
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:4 → 309
      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 ...
      pfam04564
      Location:404 → 476
      U-box; U-box domain
      sd00039
      Location:16 → 52
      7WD40; WD40 repeat [structural motif]

    2. NM_001128213.2 → NP_001121685.1  WD repeat, SAM and U-box domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001121685.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC008277, AK129983, AL040518, CB240898
      Consensus CDS
      CCDS2208.1
      UniProtKB/Swiss-Prot
      Q53TI9, Q8N6N8, Q8N9V3
      Related
      ENSP00000387078.3, ENST00000409990.7
      Conserved Domains (6) summary
      cd09505
      Location:328 → 399
      SAM_WDSUB1; SAM domain of WDSUB1 proteins
      smart00454
      Location:332 → 395
      SAM; Sterile alpha motif
      COG2319
      Location:2 → 308
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:4 → 309
      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 ...
      pfam04564
      Location:404 → 476
      U-box; U-box domain
      sd00039
      Location:16 → 52
      7WD40; WD40 repeat [structural motif]

    3. NM_001307994.2 → NP_001294923.1  WD repeat, SAM and U-box domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001294923.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks several exons in the central coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1, but maintains the same N- and C-termini.
      Source sequence(s)
      AK093494, BC029520
      Consensus CDS
      CCDS77477.1
      UniProtKB/Swiss-Prot
      Q8N9V3
      Related
      ENSP00000350866.4, ENST00000358147.8
      Conserved Domains (6) summary
      cd09505
      Location:236 → 307
      SAM_WDSUB1; SAM domain of WDSUB1 proteins
      smart00454
      Location:240 → 303
      SAM; Sterile alpha motif
      COG2319
      Location:3 → 253
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:3 → 217
      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 ...
      pfam04564
      Location:312 → 384
      U-box; U-box domain
      sd00039
      Location:16 → 52
      7WD40; WD40 repeat [structural motif]

    4. NM_001330274.2 → NP_001317203.1  WD repeat, SAM and U-box domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC008277, AC009307, KF456729
      Consensus CDS
      CCDS82525.1
      UniProtKB/TrEMBL
      B8ZZF2
      Related
      ENSP00000386891.1, ENST00000409124.1
      Conserved Domains (6) summary
      smart00454
      Location:332 → 377
      SAM; Sterile alpha motif
      COG2319
      Location:2 → 308
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:4 → 309
      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:16 → 52
      7WD40; WD40 repeat [structural motif]
      cl15755
      Location:328 → 377
      SAM_superfamily; SAM (Sterile alpha motif )
      cl17238
      Location:378 → 429
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    5. NM_001330276.2 → NP_001317205.1  WD repeat, SAM and U-box domain-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008277, AC009307, KF456729

    6. NM_001330277.2 → NP_001317206.1  WD repeat, SAM and U-box domain-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC008277, AC009307, KF456729
      Conserved Domains (6) summary
      cd09505
      Location:241 → 312
      SAM_WDSUB1; SAM domain of WDSUB1 proteins
      smart00454
      Location:245 → 308
      SAM; Sterile alpha motif
      COG2319
      Location:15 → 221
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:11 → 224
      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 ...
      pfam04564
      Location:317 → 389
      U-box; U-box domain
      sd00039
      Location:57 → 91
      7WD40; WD40 repeat [structural motif]

    7. NM_001330278.2 → NP_001317207.1  WD repeat, SAM and U-box domain-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008277, AC009307, KF456729
      Consensus CDS
      CCDS2208.1
      UniProtKB/Swiss-Prot
      Q53TI9, Q8N6N8, Q8N9V3
      Conserved Domains (6) summary
      cd09505
      Location:328 → 399
      SAM_WDSUB1; SAM domain of WDSUB1 proteins
      smart00454
      Location:332 → 395
      SAM; Sterile alpha motif
      COG2319
      Location:2 → 308
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:4 → 309
      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 ...
      pfam04564
      Location:404 → 476
      U-box; U-box domain
      sd00039
      Location:16 → 52
      7WD40; WD40 repeat [structural motif]

    8. NM_001330279.2 → NP_001317208.1  WD repeat, SAM and U-box domain-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC008277, AC009307, KF456729
      Conserved Domains (6) summary
      cd09505
      Location:159 → 230
      SAM_WDSUB1; SAM domain of WDSUB1 proteins
      smart00454
      Location:163 → 226
      SAM; Sterile alpha motif
      COG2319
      Location:7 → 155
      WD40; WD40 repeat [General function prediction only]
      pfam04564
      Location:235 → 307
      U-box; U-box domain
      sd00039
      Location:15 → 68
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:1 → 155
      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 ...

    9. NM_001330280.2 → NP_001317209.1  WD repeat, SAM and U-box domain-containing protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC008277, AC009307, KF456729
      Conserved Domains (4) summary
      cd09505
      Location:90 → 161
      SAM_WDSUB1; SAM domain of WDSUB1 proteins
      pfam04564
      Location:166 → 238
      U-box; U-box domain
      cd16655
      Location:172 → 210
      RING-Ubox_WDSUB1_like; U-box domain, a modified RING finger [structural motif]
      cl25539
      Location:20 → 80
      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 ...

    10. NM_152528.3 → NP_689741.2  WD repeat, SAM and U-box domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_689741.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AC008277, AK093494, AL040518, CB240898
      Consensus CDS
      CCDS2208.1
      UniProtKB/Swiss-Prot
      Q53TI9, Q8N6N8, Q8N9V3
      Related
      ENSP00000376545.3, ENST00000392796.7
      Conserved Domains (6) summary
      cd09505
      Location:328 → 399
      SAM_WDSUB1; SAM domain of WDSUB1 proteins
      smart00454
      Location:332 → 395
      SAM; Sterile alpha motif
      COG2319
      Location:2 → 308
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:4 → 309
      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 ...
      pfam04564
      Location:404 → 476
      U-box; U-box domain
      sd00039
      Location:16 → 52
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      159235798..159286703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443531.1 → XP_047299487.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X9

    2. XM_047443529.1 → XP_047299485.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X7

    3. XM_047443528.1 → XP_047299484.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X6

    4. XM_047443526.1 → XP_047299482.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X4

    5. XM_047443525.1 → XP_047299481.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X3

    6. XM_047443527.1 → XP_047299483.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X5

    7. XM_047443524.1 → XP_047299480.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      B8ZZF2

    8. XM_017003481.2 → XP_016858970.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X2

    9. XM_047443530.1 → XP_047299486.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X8

    RNA

    1. XR_001738650.3 RNA Sequence

    2. XR_007069663.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      159695595..159746544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340816.1 → XP_054196791.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X9

    2. XM_054340814.1 → XP_054196789.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X7

    3. XM_054340813.1 → XP_054196788.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X6

    4. XM_054340811.1 → XP_054196786.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X4

    5. XM_054340810.1 → XP_054196785.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X3

    6. XM_054340812.1 → XP_054196787.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X5

    7. XM_054340808.1 → XP_054196783.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      B8ZZF2

    8. XM_054340809.1 → XP_054196784.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X2

    9. XM_054340815.1 → XP_054196790.1  WD repeat, SAM and U-box domain-containing protein 1 isoform X8

    RNA

    1. XR_008486296.1 RNA Sequence

    2. XR_008486295.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9V3.4 GenPept UniProtKB/Swiss-Prot:Q8N9V3

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