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    ZNF711 zinc finger protein 711 [ Homo sapiens (human) ]

    Gene ID: 7552, updated on 25-May-2017
    Official Symbol
    ZNF711provided by HGNC
    Official Full Name
    zinc finger protein 711provided by HGNC
    Primary source
    HGNC:HGNC:13128
    See related
    Ensembl:ENSG00000147180 MIM:314990; Vega:OTTHUMG00000021933
    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
    ZNF4; ZNF5; ZNF6; CMPX1; MRX97; Zfp711; dJ75N13.1
    Summary
    This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with mental retardation. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    Xq21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (85243820..85273362)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (84498826..84528368)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene apolipoprotein O like Neighboring gene uncharacterized LOC105369163 Neighboring gene spermidine/spermine N1-acetyl transferase like 1 Neighboring gene uncharacterized LOC101928128 Neighboring gene premature ovarian failure, 1B Neighboring gene microRNA 1321

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    ZNF711-Related X-linked Mental Retardation
    MedGen: C2749020 OMIM: 300803 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-08-29)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2013-08-29)

    ClinGen Genome Curation PagePubMed
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    zinc finger protein 711
    Names
    dJ75N13.1 (znf6-like)
    zinc finger protein 6 (CMPX1)

    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_012535.1 RefSeqGene

      Range
      5001..34372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330574.1NP_001317503.1  zinc finger protein 711 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC003001
      Consensus CDS
      CCDS83481.1
      UniProtKB/Swiss-Prot
      Q9Y462
    2. NM_021998.4NP_068838.3  zinc finger protein 711 isoform 2

      See identical proteins and their annotated locations for NP_068838.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC006349, BC067294, DB074057
      Consensus CDS
      CCDS35344.1
      UniProtKB/Swiss-Prot
      Q9Y462
      UniProtKB/TrEMBL
      Q6PK66
      Related
      ENSP00000362260.3, OTTHUMP00000023623, ENST00000373165.7, OTTHUMT00000057388
      Conserved Domains (5) summary
      COG5048
      Location:500757
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:507527
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:505527
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65368
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:519543
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      85243820..85273362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531019.1XP_011529321.1  zinc finger protein 711 isoform X1

      See identical proteins and their annotated locations for XP_011529321.1

      Conserved Domains (5) summary
      COG5048
      Location:550807
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:557577
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:555577
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:69418
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:569593
      zf-H2C2_2; Zinc-finger double domain
    2. XM_011531025.1XP_011529327.1  zinc finger protein 711 isoform X3

      Conserved Domains (5) summary
      COG5048
      Location:504761
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:511531
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:509531
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:69372
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:523547
      zf-H2C2_2; Zinc-finger double domain
    3. XM_011531024.1XP_011529326.1  zinc finger protein 711 isoform X2

      See identical proteins and their annotated locations for XP_011529326.1

      UniProtKB/Swiss-Prot
      Q9Y462
      Related
      ENSP00000353922.4, OTTHUMP00000207244, ENST00000360700.4, OTTHUMT00000057390
      Conserved Domains (5) summary
      COG5048
      Location:546803
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:553573
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:551573
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65414
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:565589
      zf-H2C2_2; Zinc-finger double domain
    4. XM_011531026.1XP_011529328.1  zinc finger protein 711 isoform X4

      See identical proteins and their annotated locations for XP_011529328.1

      UniProtKB/Swiss-Prot
      Q9Y462
      Conserved Domains (5) summary
      COG5048
      Location:500757
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:507527
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:505527
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65368
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:519543
      zf-H2C2_2; Zinc-finger double domain
    5. XM_011531021.1XP_011529323.1  zinc finger protein 711 isoform X1

      See identical proteins and their annotated locations for XP_011529323.1

      Conserved Domains (5) summary
      COG5048
      Location:550807
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:557577
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:555577
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:69418
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:569593
      zf-H2C2_2; Zinc-finger double domain
    6. XM_017029804.1XP_016885293.1  zinc finger protein 711 isoform X2

      Conserved Domains (5) summary
      COG5048
      Location:546803
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:553573
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:551573
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65414
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:565589
      zf-H2C2_2; Zinc-finger double domain
    7. XM_017029807.1XP_016885296.1  zinc finger protein 711 isoform X4

      UniProtKB/Swiss-Prot
      Q9Y462
      Conserved Domains (5) summary
      COG5048
      Location:500757
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:507527
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:505527
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65368
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:519543
      zf-H2C2_2; Zinc-finger double domain
    8. XM_011531020.1XP_011529322.1  zinc finger protein 711 isoform X1

      See identical proteins and their annotated locations for XP_011529322.1

      Conserved Domains (5) summary
      COG5048
      Location:550807
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:557577
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:555577
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:69418
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:569593
      zf-H2C2_2; Zinc-finger double domain
    9. XM_005262186.2XP_005262243.1  zinc finger protein 711 isoform X2

      See identical proteins and their annotated locations for XP_005262243.1

      UniProtKB/Swiss-Prot
      Q9Y462
      Conserved Domains (5) summary
      COG5048
      Location:546803
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:553573
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:551573
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65414
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:565589
      zf-H2C2_2; Zinc-finger double domain
    10. XM_005262189.2XP_005262246.1  zinc finger protein 711 isoform X4

      See identical proteins and their annotated locations for XP_005262246.1

      UniProtKB/Swiss-Prot
      Q9Y462
      Related
      ENSP00000276123.3, OTTHUMP00000023624, ENST00000276123.7, OTTHUMT00000057389
      Conserved Domains (5) summary
      COG5048
      Location:500757
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:507527
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:505527
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65368
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:519543
      zf-H2C2_2; Zinc-finger double domain
    11. XM_011531022.1XP_011529324.1  zinc finger protein 711 isoform X1

      See identical proteins and their annotated locations for XP_011529324.1

      Conserved Domains (5) summary
      COG5048
      Location:550807
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:557577
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:555577
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:69418
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:569593
      zf-H2C2_2; Zinc-finger double domain
    12. XM_005262187.1XP_005262244.1  zinc finger protein 711 isoform X2

      See identical proteins and their annotated locations for XP_005262244.1

      UniProtKB/Swiss-Prot
      Q9Y462
      Conserved Domains (5) summary
      COG5048
      Location:546803
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:553573
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:551573
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65414
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:565589
      zf-H2C2_2; Zinc-finger double domain
    13. XM_017029808.1XP_016885297.1  zinc finger protein 711 isoform X4

      UniProtKB/Swiss-Prot
      Q9Y462
      Conserved Domains (5) summary
      COG5048
      Location:500757
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:507527
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:505527
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65368
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:519543
      zf-H2C2_2; Zinc-finger double domain
    14. XM_005262188.1XP_005262245.1  zinc finger protein 711 isoform X2

      See identical proteins and their annotated locations for XP_005262245.1

      UniProtKB/Swiss-Prot
      Q9Y462
      Conserved Domains (5) summary
      COG5048
      Location:546803
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:553573
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:551573
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65414
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:565589
      zf-H2C2_2; Zinc-finger double domain
    15. XM_017029805.1XP_016885294.1  zinc finger protein 711 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y462
      Conserved Domains (5) summary
      COG5048
      Location:546803
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:553573
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:551573
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65414
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:565589
      zf-H2C2_2; Zinc-finger double domain
    16. XM_017029809.1XP_016885298.1  zinc finger protein 711 isoform X4

      UniProtKB/Swiss-Prot
      Q9Y462
      Conserved Domains (5) summary
      COG5048
      Location:500757
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:507527
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:505527
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65368
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:519543
      zf-H2C2_2; Zinc-finger double domain
    17. XM_011531023.2XP_011529325.1  zinc finger protein 711 isoform X1

      See identical proteins and their annotated locations for XP_011529325.1

      Conserved Domains (5) summary
      COG5048
      Location:550807
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:557577
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:555577
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:69418
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:569593
      zf-H2C2_2; Zinc-finger double domain
    18. XM_017029803.1XP_016885292.1  zinc finger protein 711 isoform X1

      Conserved Domains (5) summary
      COG5048
      Location:550807
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:557577
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:555577
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:69418
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:569593
      zf-H2C2_2; Zinc-finger double domain
    19. XM_017029806.1XP_016885295.1  zinc finger protein 711 isoform X4

      UniProtKB/Swiss-Prot
      Q9Y462
      Conserved Domains (5) summary
      COG5048
      Location:500757
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:507527
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:505527
      zf-C2H2; Zinc finger, C2H2 type
      pfam04704
      Location:65368
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:519543
      zf-H2C2_2; Zinc-finger double domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      84392701..84421999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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