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PAXIP1 PAX interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 22976, updated on 8-Jul-2021

Summary

Official Symbol
PAXIP1provided by HGNC
Official Full Name
PAX interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:8624
See related
Ensembl:ENSG00000157212 MIM:608254
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
PTIP; TNRC2; CAGF28; CAGF29; PACIP1; PAXIP1L
Summary
This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 6.7), lymph node (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

See PAXIP1 in Genome Data Viewer
Location:
7q36.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (154943690..155003419, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (154735400..154794834, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene dipeptidyl peptidase like 6 Neighboring gene uncharacterized LOC105375581 Neighboring gene uncharacterized LOC105375580 Neighboring gene PAXIP1 antisense RNA 2 Neighboring gene PAXIP1 divergent transcript Neighboring gene HTR5A antisense RNA 1 Neighboring gene 5-hydroxytryptamine receptor 5A

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

Associated conditions

Description Tests
Genome-wide interaction study of smoking and bladder cancer risk.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41049

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 DNA damage response, signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA recombination IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in chorion development IEA
Inferred from Electronic Annotation
more info
 
involved_in endothelial cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in histone H3-K4 methylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of histone H3-K36 methylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of histone H3-K4 methylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of histone acetylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of isotype switching ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of isotype switching to IgG isotypes IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription initiation from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription initiation from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell cycle G2/M phase transition IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of MLL3/4 complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
part_of histone methyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
PAX-interacting protein 1
Names
PAX interacting (with transcription-activation domain) protein 1
PAX transcription activation domain interacting protein 1 like
protein encoded by CAG trinucleotide repeats

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_023293.1 RefSeqGene

    Range
    4849..64283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007349.4NP_031375.3  PAX-interacting protein 1

    See identical proteins and their annotated locations for NP_031375.3

    Status: REVIEWED

    Source sequence(s)
    AC093726, AK123600, BC033781, BQ222021, CR993144
    Consensus CDS
    CCDS47753.1
    UniProtKB/Swiss-Prot
    Q6ZW49
    Related
    ENSP00000384048.1, ENST00000404141.6
    Conserved Domains (4) summary
    smart00292
    Location:9701053
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:869935
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam00533
    Location:601677
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:710771
    PTCB-BRCT; twin BRCT domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    154943690..155003419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446693.1XP_024302461.1  PAX-interacting protein 1 isoform X2

    Conserved Domains (4) summary
    smart00292
    Location:9361019
    BRCT; breast cancer carboxy-terminal domain
    pfam00533
    Location:567643
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:676737
    PTCB-BRCT; twin BRCT domain
    pfam16770
    Location:818913
    RTT107_BRCT_5; Regulator of Ty1 transposition protein 107 BRCT domain
  2. XM_011515982.3XP_011514284.1  PAX-interacting protein 1 isoform X1

    Conserved Domains (4) summary
    smart00292
    Location:9441027
    BRCT; breast cancer carboxy-terminal domain
    cd00027
    Location:843909
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam00533
    Location:575651
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:684745
    PTCB-BRCT; twin BRCT domain
  3. XM_024446694.1XP_024302462.1  PAX-interacting protein 1 isoform X3

    Conserved Domains (4) summary
    smart00292
    Location:9231006
    BRCT; breast cancer carboxy-terminal domain
    pfam00533
    Location:554630
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:663724
    PTCB-BRCT; twin BRCT domain
    pfam16770
    Location:805900
    RTT107_BRCT_5; Regulator of Ty1 transposition protein 107 BRCT domain
  4. XM_011515983.2XP_011514285.1  PAX-interacting protein 1 isoform X3

    Conserved Domains (4) summary
    smart00292
    Location:9231006
    BRCT; breast cancer carboxy-terminal domain
    pfam00533
    Location:554630
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:663724
    PTCB-BRCT; twin BRCT domain
    pfam16770
    Location:805900
    RTT107_BRCT_5; Regulator of Ty1 transposition protein 107 BRCT domain
  5. XM_005249539.1XP_005249596.1  PAX-interacting protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005249596.1

    UniProtKB/Swiss-Prot
    Q6ZW49
    Conserved Domains (4) summary
    smart00292
    Location:9361019
    BRCT; breast cancer carboxy-terminal domain
    pfam00533
    Location:567643
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:676737
    PTCB-BRCT; twin BRCT domain
    pfam16770
    Location:818913
    RTT107_BRCT_5; Regulator of Ty1 transposition protein 107 BRCT domain
  6. XM_017011881.2XP_016867370.1  PAX-interacting protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q6ZW49
    Related
    ENST00000473219.5
    Conserved Domains (4) summary
    smart00292
    Location:9361019
    BRCT; breast cancer carboxy-terminal domain
    pfam00533
    Location:567643
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:676737
    PTCB-BRCT; twin BRCT domain
    pfam16770
    Location:818913
    RTT107_BRCT_5; Regulator of Ty1 transposition protein 107 BRCT domain
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