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    RPAP3 RNA polymerase II associated protein 3 [ Homo sapiens (human) ]

    Gene ID: 79657, updated on 9-Dec-2024

    Summary

    Official Symbol
    RPAP3provided by HGNC
    Official Full Name
    RNA polymerase II associated protein 3provided by HGNC
    Primary source
    HGNC:HGNC:26151
    See related
    Ensembl:ENSG00000005175 MIM:611477; AllianceGenome:HGNC:26151
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Tah1; hSpagh
    Summary
    This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in lymph node (RPKM 11.2), appendix (RPKM 8.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RPAP3 in Genome Data Viewer
    Location:
    12q13.11
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (47661249..47706030, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (47622569..47667355, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48055032..48099813, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene acireductone dioxygenase 1 pseudogene 3 Neighboring gene STBD1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:48030175-48030714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6256 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:48099027-48099528 and GRCh37_chr12:48099529-48100028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6259 Neighboring gene RPAP3 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4395 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:48131928-48133127 Neighboring gene endonuclease, poly(U) specific Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6261 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:48146243-48146784 Neighboring gene Sharpr-MPRA regulatory region 8178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6263 Neighboring gene Rap guanine nucleotide exchange factor 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:48151874-48152542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48152543-48153211 Neighboring gene solute carrier family 48 member 1

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21908

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein stabilization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of R2TP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of R2TP complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of RPAP3/R2TP/prefoldin-like complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    part_of protein folding chaperone complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    RNA polymerase II-associated protein 3

    NCBI Reference Sequences (RefSeq)

    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_001146075.2NP_001139547.1  RNA polymerase II-associated protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001139547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC004241, BC056415, DA096405, N39593
      Consensus CDS
      CCDS53783.1
      UniProtKB/Swiss-Prot
      Q9H6T3
      Related
      ENSP00000370024.4, ENST00000380650.4
      Conserved Domains (3) summary
      sd00006
      Location:133161
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:512599
      RPAP3_C; Potential Monad-binding region of RPAP3
      cl26005
      Location:136267
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
    2. NM_001146076.2NP_001139548.1  RNA polymerase II-associated protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001139548.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a segment of the 5' coding region, and uses a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC004241, AK299465, BC056415, DA096405, N39593
      Consensus CDS
      CCDS53782.1
      UniProtKB/Swiss-Prot
      Q9H6T3
      Related
      ENSP00000401823.3, ENST00000432584.7
      Conserved Domains (5) summary
      sd00006
      Location:127151
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:4375
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:122187
      TPR_11; TPR repeat
      pfam13432
      Location:1475
      TPR_16; Tetratricopeptide repeat
      pfam13877
      Location:387477
      RPAP3_C; Potential Monad-binding region of RPAP3
    3. NM_024604.3NP_078880.2  RNA polymerase II-associated protein 3 isoform 1

      See identical proteins and their annotated locations for NP_078880.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC004241, AK025561, BC056415, DA096405, N39593
      Consensus CDS
      CCDS8753.1
      UniProtKB/Swiss-Prot
      B4DRW9, Q6PHR5, Q9H6T3
      Related
      ENSP00000005386.3, ENST00000005386.8
      Conserved Domains (3) summary
      PLN03088
      Location:136267
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:133161
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:545633
      RPAP3_C; Potential Monad-binding region of RPAP3

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      47661249..47706030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      47622569..47667355 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)