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    PAAF1 proteasomal ATPase associated factor 1 [ Homo sapiens (human) ]

    Gene ID: 80227, updated on 9-Dec-2024

    Summary

    Official Symbol
    PAAF1provided by HGNC
    Official Full Name
    proteasomal ATPase associated factor 1provided by HGNC
    Primary source
    HGNC:HGNC:25687
    See related
    Ensembl:ENSG00000175575 MIM:619772; AllianceGenome:HGNC:25687
    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
    PAAF; Rpn14; WDR71
    Summary
    This gene encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
    Expression
    Ubiquitous expression in brain (RPKM 8.9), testis (RPKM 8.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PAAF1 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73876699..73931114)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73805848..73860264)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73587744..73642159)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L48 Neighboring gene RN7SK pseudogene 243 Neighboring gene MIX23 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 5745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5244 Neighboring gene cytochrome c oxidase assembly factor 4 homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73608007-73608786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5245 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73631557-73631769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73637447-73637946 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73643667-73643917 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73647840-73648474 Neighboring gene DnaJ heat shock protein family (Hsp40) member B13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3751 Neighboring gene uncoupling protein 2

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11848

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to RNA polymerase II general transcription initiation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in transcription initiation at RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of SAGA complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of proteasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription factor TFIID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    proteasomal ATPase-associated factor 1
    Names
    WD repeat domain 71
    WD repeat-containing protein 71

    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_001267803.2NP_001254732.1  proteasomal ATPase-associated factor 1 isoform 1

      See identical proteins and their annotated locations for NP_001254732.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes longest protein (isoform 1). Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AF087895, AP002770, BC028628, DC354686
      Consensus CDS
      CCDS58157.1
      Related
      ENSP00000438124.1, ENST00000536003.5
      Conserved Domains (3) summary
      COG2319
      Location:40375
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:78115
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:72321
      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 ...
    2. NM_001267804.2NP_001254733.1  proteasomal ATPase-associated factor 1 isoform 1

      See identical proteins and their annotated locations for NP_001254733.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate splicing structure in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AF087895, AP002770, CD243380, DC354686
      Consensus CDS
      CCDS58157.1
      Conserved Domains (3) summary
      COG2319
      Location:40375
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:78115
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:72321
      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 ...
    3. NM_001267805.2NP_001254734.1  proteasomal ATPase-associated factor 1 isoform 1

      See identical proteins and their annotated locations for NP_001254734.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate splicing structure in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AF087895, AK021910, AP002770
      Consensus CDS
      CCDS58157.1
      Related
      ENSP00000441494.1, ENST00000544552.5
      Conserved Domains (3) summary
      COG2319
      Location:40375
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:78115
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:72321
      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 ...
    4. NM_001267806.2NP_001254735.1  proteasomal ATPase-associated factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001254735.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an internal exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AF087895, AK298258, AP002770
      Consensus CDS
      CCDS58158.1
      UniProtKB/Swiss-Prot
      Q9BRP4
      Related
      ENSP00000441333.1, ENST00000541951.5
      Conserved Domains (3) summary
      COG2319
      Location:2277
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2359
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:1223
      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 ...
    5. NM_001363556.2NP_001350485.1  proteasomal ATPase-associated factor 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK309133, AP002770
      Consensus CDS
      CCDS86227.1
      UniProtKB/TrEMBL
      F5H0C4
      Related
      ENSP00000438071.1, ENST00000544909.5
      Conserved Domains (2) summary
      sd00039
      Location:96133
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:90339
      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 ...
    6. NM_025155.3NP_079431.1  proteasomal ATPase-associated factor 1 isoform 2

      See identical proteins and their annotated locations for NP_079431.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AF087895, AK021910, AP002770
      Consensus CDS
      CCDS8226.1
      UniProtKB/Swiss-Prot
      A6NDR5, B4DPB0, B7ZAS9, Q4G165, Q53HS9, Q7Z500, Q8TBU6, Q9BRP4, Q9HAB6
      Related
      ENSP00000311665.4, ENST00000310571.8
      Conserved Domains (3) summary
      COG2319
      Location:57392
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:95132
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:89338
      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 ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      73876699..73931114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427639.1XP_047283595.1  proteasomal ATPase-associated factor 1 isoform X1

    RNA

    1. XR_007062508.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      73805848..73860264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370044.1XP_054226019.1  proteasomal ATPase-associated factor 1 isoform X1

    RNA

    1. XR_008488461.1 RNA Sequence