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    BUD31 BUD31 homolog [ Homo sapiens (human) ]

    Gene ID: 8896, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BUD31provided by HGNC
    Official Full Name
    BUD31 homologprovided by HGNC
    Primary source
    HGNC:HGNC:29629
    See related
    Ensembl:ENSG00000106245 MIM:603477; AllianceGenome:HGNC:29629
    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
    G10; EDG2; Cwc14; EDG-2; fSAP17; YCR063W
    Summary
    Enables nuclear receptor binding activity and nuclear receptor coactivator activity. Involved in mRNA splicing, via spliceosome and positive regulation of androgen receptor activity. Located in chromatin and nucleus. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 25.3), bone marrow (RPKM 23.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See BUD31 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99408969..99419616)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100647870..100658517)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99006592..99017239)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98923087-98923646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18405 Neighboring gene actin related protein 2/3 complex subunit 1A Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98955605-98956105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98957299-98957799 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:98962524-98962729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98966657-98967570 Neighboring gene Sharpr-MPRA regulatory region 4482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98970933-98971433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26313 Neighboring gene actin related protein 2/3 complex subunit 1B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98991459-98992130 Neighboring gene PDGFA associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26314 Neighboring gene uncharacterized LOC124901707 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18409 Neighboring gene ATP5MF-PTCD1 readthrough Neighboring gene microRNA 12119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99020619-99021120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99027477-99028073 Neighboring gene pentatricopeptide repeat domain 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99032915-99033062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99034189-99034714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18410 Neighboring gene SAP domain containing ribonucleoprotein pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99049670-99050230 Neighboring gene cleavage and polyadenylation specific factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99053345-99054147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99058948-99059448 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99062959-99063576 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99063577-99064192 Neighboring gene ATP synthase membrane subunit f

    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. The role of BUD31 in clear cell renal cell carcinoma: prognostic significance, alternative splicing, and tumor immune environment. Wu X, et al. Clin Exp Med, 2024 Aug 13. PMID 39136845, Free PMC Article
    2. Characterization of edg-2, a human homologue of the Xenopus maternal transcript G10 from endothelial cells. Hla T, et al. Biochim Biophys Acta, 1995 Jan 25. PMID 7841202
    3. Downregulation of BUD31 Promotes Prostate Cancer Cell Proliferation and Migration via Activation of p-AKT and Vimentin In Vitro. Choudhry M, et al. Int J Mol Sci, 2023 Mar 23. PMID 37047027, Free PMC Article
    4. Meta-analysis of gene expression profiles indicates genes in spliceosome pathway are up-regulated in hepatocellular carcinoma (HCC). Xu W, et al. Med Oncol, 2015 Apr. PMID 25731616
    5. Identification of a new androgen receptor (AR) co-regulator BUD31 and related peptides to suppress wild-type and mutated AR-mediated prostate cancer growth via peptide screening and X-ray structure analysis. Hsu CL, et al. Mol Oncol, 2014 Dec. PMID 25091737, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of BUD31 in clear cell renal cell carcinoma: prognostic significance, alternative splicing, and tumor immune environment.
      Title: The role of BUD31 in clear cell renal cell carcinoma: prognostic significance, alternative splicing, and tumor immune environment.
    2. Downregulation of BUD31 Promotes Prostate Cancer Cell Proliferation and Migration via Activation of p-AKT and Vimentin In Vitro.
      Title: Downregulation of BUD31 Promotes Prostate Cancer Cell Proliferation and Migration via Activation of p-AKT and Vimentin In Vitro.
    3. High BUD31 expression is associated with hepatocellular carcinoma.
      Title: Meta-analysis of gene expression profiles indicates genes in spliceosome pathway are up-regulated in hepatocellular carcinoma (HCC).
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human BUD31 homolog (S. cerevisiae) (BUD31) at amino acid residues 17-18 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111202

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclear receptor coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of androgen receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U2-type catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein BUD31 homolog
    Names
    G10 maternal transcript homolog
    functional spliceosome-associated protein 17
    maternal G10 transcript
    protein EDG-2
    protein G10 homolog

    NCBI Reference Sequences (RefSeq)

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    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_001370407.1 → NP_001357336.1  protein BUD31 homolog

      Status: VALIDATED

      Source sequence(s)
      AC004922
      Consensus CDS
      CCDS5663.1
      UniProtKB/Swiss-Prot
      A4D274, B7Z4S9, D6W5S6, P41223, Q6IB53, Q9UDV1
      Related
      ENSP00000386023.2, ENST00000403633.6
      Conserved Domains (1) summary
      pfam01125
      Location:1 → 143
      G10; G10 protein

    2. NM_001370410.1 → NP_001357339.1  protein BUD31 homolog

      Status: VALIDATED

      Source sequence(s)
      AC004922
      Consensus CDS
      CCDS5663.1
      UniProtKB/Swiss-Prot
      A4D274, B7Z4S9, D6W5S6, P41223, Q6IB53, Q9UDV1
      Conserved Domains (1) summary
      pfam01125
      Location:1 → 143
      G10; G10 protein

    3. NM_003910.4 → NP_003901.2  protein BUD31 homolog

      See identical proteins and their annotated locations for NP_003901.2

      Status: VALIDATED

      Source sequence(s)
      AC004922, BC022821
      Consensus CDS
      CCDS5663.1
      UniProtKB/Swiss-Prot
      A4D274, B7Z4S9, D6W5S6, P41223, Q6IB53, Q9UDV1
      Related
      ENSP00000222969.5, ENST00000222969.10
      Conserved Domains (1) summary
      pfam01125
      Location:1 → 143
      G10; G10 protein

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      99408969..99419616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421006.1 → XP_047276962.1  protein BUD31 homolog isoform X2

      UniProtKB/Swiss-Prot
      A4D274, B7Z4S9, D6W5S6, P41223, Q6IB53, Q9UDV1

    2. XM_047421007.1 → XP_047276963.1  protein BUD31 homolog isoform X3

    3. XM_047421008.1 → XP_047276964.1  protein BUD31 homolog isoform X3

    4. XM_005250670.6 → XP_005250727.1  protein BUD31 homolog isoform X1

      See identical proteins and their annotated locations for XP_005250727.1

      UniProtKB/Swiss-Prot
      P41223
      Conserved Domains (1) summary
      pfam01125
      Location:1 → 134
      G10; G10 protein

    5. XM_017012761.3 → XP_016868250.1  protein BUD31 homolog isoform X1

      UniProtKB/Swiss-Prot
      P41223
      Conserved Domains (1) summary
      pfam01125
      Location:1 → 134
      G10; G10 protein

    6. XM_005250671.6 → XP_005250728.1  protein BUD31 homolog isoform X1

      See identical proteins and their annotated locations for XP_005250728.1

      UniProtKB/Swiss-Prot
      P41223
      Conserved Domains (1) summary
      pfam01125
      Location:1 → 134
      G10; G10 protein

    7. XM_017012760.3 → XP_016868249.1  protein BUD31 homolog isoform X1

      UniProtKB/Swiss-Prot
      P41223
      Conserved Domains (1) summary
      pfam01125
      Location:1 → 134
      G10; G10 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      100647870..100658517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359290.1 → XP_054215265.1  protein BUD31 homolog isoform X2

      UniProtKB/Swiss-Prot
      A4D274, B7Z4S9, D6W5S6, P41223, Q6IB53, Q9UDV1

    2. XM_054359291.1 → XP_054215266.1  protein BUD31 homolog isoform X3

    3. XM_054359292.1 → XP_054215267.1  protein BUD31 homolog isoform X3

    4. XM_054359287.1 → XP_054215262.1  protein BUD31 homolog isoform X1

    5. XM_054359289.1 → XP_054215264.1  protein BUD31 homolog isoform X1

    6. XM_054359286.1 → XP_054215261.1  protein BUD31 homolog isoform X1

    7. XM_054359288.1 → XP_054215263.1  protein BUD31 homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P41223.2 GenPept UniProtKB/Swiss-Prot:P41223

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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