Format

Send to:

Choose Destination

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

Gene ID: 80227, updated on 13-Feb-2019

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
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

Genomic context

See PAAF1 in Genome Data Viewer
Location:
11q13.4
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (73876699..73927736)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73587744..73638781)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L48 Neighboring gene RN7SK pseudogene 243 Neighboring gene coiled-coil domain containing 58 pseudogene 5 Neighboring gene cytochrome c oxidase assembly factor 4 homolog Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 4 Neighboring gene DnaJ heat shock protein family (Hsp40) member B13 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11848

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
proteasome complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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_001267803.1NP_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
    UniProtKB/Swiss-Prot
    Q9BRP4
    UniProtKB/TrEMBL
    A0A024R5N4
    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_001267804.1NP_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
    UniProtKB/Swiss-Prot
    Q9BRP4
    UniProtKB/TrEMBL
    A0A024R5N4
    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_001267805.1NP_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, DC354686
    Consensus CDS
    CCDS58157.1
    UniProtKB/Swiss-Prot
    Q9BRP4
    UniProtKB/TrEMBL
    A0A024R5N4
    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_001267806.1NP_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_001363556.1NP_001350485.1  proteasomal ATPase-associated factor 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK309133, AP002770
    Consensus CDS
    CCDS86227.1
    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_025155.2NP_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, DC354686
    Consensus CDS
    CCDS8226.1
    UniProtKB/Swiss-Prot
    Q9BRP4
    Related
    ENSP00000311665.3, ENST00000310571.7
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    73876699..73927736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018358.2XP_016873847.1  proteasomal ATPase-associated factor 1 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:11254
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:638
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:6202
    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. XM_017018357.2XP_016873846.1  proteasomal ATPase-associated factor 1 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:11254
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:638
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:6202
    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. XM_005274309.1XP_005274366.1  proteasomal ATPase-associated factor 1 isoform X2

    See identical proteins and their annotated locations for XP_005274366.1

    Conserved Domains (3) summary
    COG2319
    Location:11254
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:638
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:6202
    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. XM_005274308.2XP_005274365.2  proteasomal ATPase-associated factor 1 isoform X1

    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 ...
  5. XM_017018359.1XP_016873848.1  proteasomal ATPase-associated factor 1 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:11254
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:638
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:6202
    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 ...

RNA

  1. XR_001747989.1 RNA Sequence

  2. XR_002957200.1 RNA Sequence

  3. XR_001747988.1 RNA Sequence

  4. XR_001747987.1 RNA Sequence

Support Center