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

Gene ID: 79657, updated on 1-Jun-2020

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
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

Genomic context

See RPAP3 in Genome Data Viewer
Location:
12q13.11
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (47661249..47706061, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48055715..48099844, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene starch binding domain 1 pseudogene Neighboring gene acireductone dioxygenase 1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 11797 Neighboring gene uncharacterized LOC105369748 Neighboring gene endonuclease, poly(U) specific Neighboring gene Rap guanine nucleotide exchange factor 3 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21908

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
R2TP complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
RNA polymerase II-associated protein 3

NCBI Reference Sequences (RefSeq)

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_001146075.1NP_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_001146076.1NP_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
    Q9H6T3
    Related
    ENSP00000005386.3, ENST00000005386.8
    Conserved Domains (3) summary
    sd00006
    Location:133161
    TPR; TPR repeat [structural motif]
    pfam13877
    Location:546633
    RPAP3_C; Potential Monad-binding region of RPAP3
    cl26005
    Location:136267
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    47661249..47706061 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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