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

    Gene ID: 22976, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:8624
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See PAXIP1 in Genome Data Viewer
    Location:
    7q36.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (154943690..155003411, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (156118967..156178685, complement)
    105.20220307 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 BRD4-independent group 4 enhancer GRCh37_chr7:154451859-154453058 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:154455057-154456256 Neighboring gene Sharpr-MPRA regulatory region 9204 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:154541852-154542037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:154559199-154559739 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:154574745-154575246 Neighboring gene uncharacterized LOC105375580 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:154648838-154649492 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:154649493-154650146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:154660288-154661046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26889 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:154737734-154738933 Neighboring gene PAXIP1 antisense RNA 2 Neighboring gene uncharacterized LOC124901781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:154795729-154796230 Neighboring gene PAXIP1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:154862583-154863409 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 transcription initiation by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription initiation by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription initiation by RNA polymerase II 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 
    part_of MLL3/4 complex IPI
    Inferred from Physical Interaction
    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
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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)

    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.

    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
      O15404, Q6N099, Q6ZW49, Q6ZWH9, Q7Z315, Q86UN0, Q8N4P9, Q96HP2
      UniProtKB/TrEMBL
      B4DEQ6
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      154943690..155003411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515982.4XP_011514284.1  PAX-interacting protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DEQ6
      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
    2. XM_047420059.1XP_047276015.1  PAX-interacting protein 1 isoform X4

      UniProtKB/TrEMBL
      B4DEQ6
      Related
      ENST00000473219.5
    3. XM_047420058.1XP_047276014.1  PAX-interacting protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DEQ6
    4. XM_047420057.1XP_047276013.1  PAX-interacting protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DEQ6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      156118967..156178685 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357635.1XP_054213610.1  PAX-interacting protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DEQ6
    2. XM_054357638.1XP_054213613.1  PAX-interacting protein 1 isoform X4

      UniProtKB/TrEMBL
      B4DEQ6
    3. XM_054357637.1XP_054213612.1  PAX-interacting protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DEQ6
    4. XM_054357636.1XP_054213611.1  PAX-interacting protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DEQ6