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    POGZ pogo transposable element derived with ZNF domain [ Homo sapiens (human) ]

    Gene ID: 23126, updated on 2-Nov-2024

    Summary

    Official Symbol
    POGZprovided by HGNC
    Official Full Name
    pogo transposable element derived with ZNF domainprovided by HGNC
    Primary source
    HGNC:HGNC:18801
    See related
    Ensembl:ENSG00000143442 MIM:614787; AllianceGenome:HGNC:18801
    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
    MRD37; WHSUS; ZNF635; ZNF280E; ZNF635m
    Summary
    The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]
    Expression
    Ubiquitous expression in ovary (RPKM 11.8), testis (RPKM 9.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POGZ in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151402724..151459494, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150526433..150583190, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151375200..151431970, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151342446-151343117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151343118-151343788 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151344535-151345118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151345119-151345702 Neighboring gene selenium binding protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151371406-151372128 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151372129-151372850 Neighboring gene proteasome 20S subunit beta 4 Neighboring gene Sharpr-MPRA regulatory region 7521 Neighboring gene RNY4 pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151476367-151476867 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151482940-151483516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151483517-151484092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151485246-151485822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151485823-151486398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151495500-151496035 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:151495990-151497189 Neighboring gene small nucleolar RNA SNORA44 Neighboring gene cingulin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151511530-151512046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151512562-151513077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151513078-151513592 Neighboring gene tuftelin 1 Neighboring gene microRNA 554

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
    MedGen: C4225351 OMIM: 616364 GeneReviews: White-Sutton Syndrome
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2017-12-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2017-12-27)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol The IN catalytic core domain has a higher binding affinity (Kd) for PSIP1 (LEDGF/p75) than the physiological binding partner, POGZ PubMed
    gag-pol The HIV-1 IN interaction site on the PSIP1 (LEDGF/p75) integrase binding domain (IBD) overlaps with that of POGZ PubMed
    gag-pol HIV-1 IN efficiently displaces POGZ from LEDGF/p75 PubMed
    gag-pol A domesticated transposase, POGZ, carries a DDE domain (amino acids 1117-1323) and interacts with LEDGF/p75. PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0461, MGC71543

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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
    pogo transposable element with ZNF domain
    Names
    putative protein product of Nbla00003
    zinc finger protein 280E
    zinc finger protein 635

    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_046601.1 RefSeqGene

      Range
      4972..61742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001194937.2NP_001181866.1  pogo transposable element with ZNF domain isoform 4

      See identical proteins and their annotated locations for NP_001181866.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AB007930, AJ242979, AK300307, AL589764, BX537838, BX649163
      Consensus CDS
      CCDS53366.1
      UniProtKB/TrEMBL
      A0AA34QVU4
      Related
      ENSP00000386836.1, ENST00000409503.5
      Conserved Domains (5) summary
      smart00674
      Location:10121073
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:523544
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:487520
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:11471271
      rve; Integrase core domain
      cl27427
      Location:404453
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
    2. NM_001194938.2NP_001181867.1  pogo transposable element with ZNF domain isoform 5

      See identical proteins and their annotated locations for NP_001181867.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon and uses an alternate in-frame splice site to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1.
      Source sequence(s)
      AB007930, AJ242979, AK300307, AK302501, AL589764, BX537838, BX649163
      Consensus CDS
      CCDS53365.1
      UniProtKB/TrEMBL
      A0AA34QVU4
      Related
      ENSP00000431259.1, ENST00000531094.5
      Conserved Domains (5) summary
      smart00674
      Location:9591020
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:470491
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:434467
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:10941218
      rve; Integrase core domain
      cl27427
      Location:351400
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
    3. NM_001410860.1NP_001397789.1  pogo transposable element with ZNF domain isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL589764
      Consensus CDS
      CCDS91052.1
      UniProtKB/TrEMBL
      A0A8V8TQ67
      Related
      ENSP00000515214.1, ENST00000703168.1
    4. NM_015100.4NP_055915.2  pogo transposable element with ZNF domain isoform 1

      See identical proteins and their annotated locations for NP_055915.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB007930, AJ242979, AL589764, BX537838, BX649163
      Consensus CDS
      CCDS997.1
      UniProtKB/Swiss-Prot
      B4DTP8, B4DYL9, B7ZBY5, E9PM80, O75049, Q3LIC4, Q5SZS1, Q5SZS2, Q5SZS3, Q5SZS4, Q7Z3K3, Q8TDZ7, Q9Y4X7
      UniProtKB/TrEMBL
      A0AA34QVU4
      Related
      ENSP00000271715.2, ENST00000271715.7
      Conserved Domains (6) summary
      smart00674
      Location:10211082
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:532553
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:496529
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam09606
      Location:101357
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cl21549
      Location:11561280
      rve; Integrase core domain
      cl27427
      Location:271462
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
    5. NM_145796.4NP_665739.3  pogo transposable element with ZNF domain isoform 3

      See identical proteins and their annotated locations for NP_665739.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AB007930, AJ242979, AK300307, AL589764, BX537561, BX537838, BX649163
      Consensus CDS
      CCDS44222.2
      UniProtKB/TrEMBL
      A0AA34QVU4
      Related
      ENSP00000357856.2, ENST00000368863.6
      Conserved Domains (5) summary
      smart00674
      Location:926987
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:437458
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:401434
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:10611185
      rve; Integrase core domain
      cl27427
      Location:180367
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
    6. NM_207171.2NP_997054.1  pogo transposable element with ZNF domain isoform 2

      See identical proteins and their annotated locations for NP_997054.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB007930, AL589764, BX537561, BX649163
      Consensus CDS
      CCDS998.1
      UniProtKB/TrEMBL
      A0AA34QVU4
      Related
      ENST00000358476.7
      Conserved Domains (6) summary
      smart00674
      Location:9681029
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:479500
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:443476
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam09606
      Location:48304
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cl21549
      Location:11031227
      rve; Integrase core domain
      cl27427
      Location:218409
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151402724..151459494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245005.3XP_005245062.1  pogo transposable element with ZNF domain isoform X5

      See identical proteins and their annotated locations for XP_005245062.1

      UniProtKB/TrEMBL
      A0AA34QVU4
      Related
      ENSP00000376484.1, ENST00000392723.6
      Conserved Domains (6) summary
      smart00674
      Location:9681029
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:479500
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:443476
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam09606
      Location:48304
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cl21549
      Location:11031227
      rve; Integrase core domain
      cl27427
      Location:218409
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
    2. XM_047450068.1XP_047306024.1  pogo transposable element with ZNF domain isoform X6

    3. XM_017000748.2XP_016856237.2  pogo transposable element with ZNF domain isoform X4

    4. XM_047450065.1XP_047306021.1  pogo transposable element with ZNF domain isoform X2

    5. XM_047450069.1XP_047306025.1  pogo transposable element with ZNF domain isoform X7

    6. XM_017000746.2XP_016856235.1  pogo transposable element with ZNF domain isoform X3

      UniProtKB/TrEMBL
      A0AA34QVU4
      Conserved Domains (5) summary
      smart00674
      Location:10121073
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:523544
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:487520
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:11471271
      rve; Integrase core domain
      cl27427
      Location:404453
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
    7. XM_005245000.5XP_005245057.1  pogo transposable element with ZNF domain isoform X1

      See identical proteins and their annotated locations for XP_005245057.1

      UniProtKB/Swiss-Prot
      B4DTP8, B4DYL9, B7ZBY5, E9PM80, O75049, Q3LIC4, Q5SZS1, Q5SZS2, Q5SZS3, Q5SZS4, Q7Z3K3, Q8TDZ7, Q9Y4X7
      UniProtKB/TrEMBL
      A0AA34QVU4
      Conserved Domains (6) summary
      smart00674
      Location:10211082
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:532553
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:496529
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam09606
      Location:101357
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cl21549
      Location:11561280
      rve; Integrase core domain
      cl27427
      Location:271462
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
    8. XM_047450064.1XP_047306020.1  pogo transposable element with ZNF domain isoform X1

      UniProtKB/Swiss-Prot
      B4DTP8, B4DYL9, B7ZBY5, E9PM80, O75049, Q3LIC4, Q5SZS1, Q5SZS2, Q5SZS3, Q5SZS4, Q7Z3K3, Q8TDZ7, Q9Y4X7
      Related
      ENSP00000390156.2, ENST00000439756.2
    9. XM_047450070.1XP_047306026.1  pogo transposable element with ZNF domain isoform X8

    10. XM_047450074.1XP_047306030.1  pogo transposable element with ZNF domain isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150526433..150583190 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335324.1XP_054191299.1  pogo transposable element with ZNF domain isoform X5

    2. XM_054335323.1XP_054191298.1  pogo transposable element with ZNF domain isoform X4

    3. XM_054335321.1XP_054191296.1  pogo transposable element with ZNF domain isoform X2

    4. XM_054335325.1XP_054191300.1  pogo transposable element with ZNF domain isoform X6

    5. XM_054335326.1XP_054191301.1  pogo transposable element with ZNF domain isoform X7

    6. XM_054335322.1XP_054191297.1  pogo transposable element with ZNF domain isoform X3

    7. XM_054335319.1XP_054191294.1  pogo transposable element with ZNF domain isoform X1

      UniProtKB/Swiss-Prot
      B4DTP8, B4DYL9, B7ZBY5, E9PM80, O75049, Q3LIC4, Q5SZS1, Q5SZS2, Q5SZS3, Q5SZS4, Q7Z3K3, Q8TDZ7, Q9Y4X7
    8. XM_054335320.1XP_054191295.1  pogo transposable element with ZNF domain isoform X1

      UniProtKB/Swiss-Prot
      B4DTP8, B4DYL9, B7ZBY5, E9PM80, O75049, Q3LIC4, Q5SZS1, Q5SZS2, Q5SZS3, Q5SZS4, Q7Z3K3, Q8TDZ7, Q9Y4X7
    9. XM_054335327.1XP_054191302.1  pogo transposable element with ZNF domain isoform X10

    10. XM_054335328.1XP_054191303.1  pogo transposable element with ZNF domain isoform X8

    11. XM_054335329.1XP_054191304.1  pogo transposable element with ZNF domain isoform X9