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    ZNF75D zinc finger protein 75D [ Homo sapiens (human) ]

    Gene ID: 7626, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF75Dprovided by HGNC
    Official Full Name
    zinc finger protein 75Dprovided by HGNC
    Primary source
    HGNC:HGNC:13145
    See related
    Ensembl:ENSG00000186376 MIM:314997; AllianceGenome:HGNC:13145
    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
    D8C6; ZNF75; ZNF82; ZSCAN28; ZKSCAN24
    Summary
    This gene encodes a protein that likely functions as a transcription factor. The protein, which belongs to the ZNF75 family, includes an N-terminal SCAN domain, a KRAB box, and five C2H2-type zinc finger motifs. Another functional gene belonging to this family is located on chromosome 16, while pseudogenes have been identified on chromosomes 11 and 12. Alternative splicing results in multiple transcripts variants. [provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in prostate (RPKM 3.8), adrenal (RPKM 3.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF75D in Genome Data Viewer
    Location:
    Xq26.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (135248589..135344109, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133574408..133670458, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (134382536..134478034, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cancer/testis antigen 55 pseudogene Neighboring gene uncharacterized LOC124905298 Neighboring gene zinc finger protein 449 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:134407073-134407615 Neighboring gene embryonic testis differentiation homolog A Neighboring gene tigger transposable element derived 7 pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:134436208-134436836 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:134436837-134437464 Neighboring gene uncharacterized LOC105373342 Neighboring gene embryonic testis differentiation homolog C Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:134471438-134471938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:134471939-134472439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21019 Neighboring gene zinc finger protein 449 Neighboring gene uncharacterized LOC100506790

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. ZNF75: isolation of a cDNA clone of the KRAB zinc finger gene subfamily mapped in YACs 1 Mb telomeric of HPRT. Villa A, et al. Genomics, 1993 Nov. PMID 8288223
    2. Isolation of a zinc finger motif (ZNF75) mapping on chromosome Xq26. Villa A, et al. Genomics, 1992 Aug. PMID 1505955
    3. The ZNF75 zinc finger gene subfamily: isolation and mapping of the four members in humans and great apes. Villa A, et al. Genomics, 1996 Jul 15. PMID 8661144
    4. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    5. ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold. Yang W, et al. Theranostics, 2022. PMID 36168627, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126327

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 75D
    Names
    zinc finger protein 75
    zinc finger protein 82

    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_021412.2 RefSeqGene

      Range
      4979..63297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001185063.2 → NP_001171992.1  zinc finger protein 75D isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks two in-frame exons, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK091687, AL832801, CB241691, DA412890
      Consensus CDS
      CCDS55503.1
      UniProtKB/Swiss-Prot
      P51815
      Related
      ENSP00000359800.1, ENST00000370764.1
      Conserved Domains (5) summary
      COG5048
      Location:283 → 397
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:300 → 320
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:270 → 292
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:139 → 180
      KRAB; KRAB box
      pfam02023
      Location:45 → 133
      SCAN; SCAN domain

    2. NM_007131.5 → NP_009062.2  zinc finger protein 75D isoform 1

      See identical proteins and their annotated locations for NP_009062.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL450472, AL831984, AL832801, BC029787
      Consensus CDS
      CCDS14648.1
      UniProtKB/Swiss-Prot
      A6NK62, B3KRI7, P51815, Q5JPG0, Q6LDE0
      Related
      ENSP00000359802.3, ENST00000370766.8
      Conserved Domains (5) summary
      COG5048
      Location:378 → 492
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:395 → 415
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:365 → 387
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:234 → 275
      KRAB; KRAB box
      pfam02023
      Location:45 → 133
      SCAN; SCAN domain

    RNA

    1. NR_110381.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences compared to variant 1, including containing three alternate 3' exons. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
      Source sequence(s)
      AI264634, AL450472, AL831984, BC029787, CF530049
      Related
      ENST00000494295.2

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      135248589..135344109 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442487.1 → XP_047298443.1  zinc finger protein 75D isoform X3

    2. XM_047442485.1 → XP_047298441.1  zinc finger protein 75D isoform X1

      UniProtKB/Swiss-Prot
      A6NK62, B3KRI7, P51815, Q5JPG0, Q6LDE0

    3. XM_047442486.1 → XP_047298442.1  zinc finger protein 75D isoform X2

    4. XM_011531397.4 → XP_011529699.1  zinc finger protein 75D isoform X4

      Conserved Domains (6) summary
      smart00349
      Location:64 → 109
      KRAB; krueppel associated box
      COG5048
      Location:207 → 321
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:224 → 244
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:194 → 216
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:64 → 103
      KRAB; KRAB box
      pfam13465
      Location:267 → 289
      zf-H2C2_2; Zinc-finger double domain

    5. XM_005262471.4 → XP_005262528.1  zinc finger protein 75D isoform X5

      See identical proteins and their annotated locations for XP_005262528.1

      Conserved Domains (6) summary
      smart00349
      Location:28 → 73
      KRAB; krueppel associated box
      COG5048
      Location:171 → 285
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:188 → 208
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:158 → 180
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:28 → 67
      KRAB; KRAB box
      pfam13465
      Location:231 → 253
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      133574408..133670458 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327803.1 → XP_054183778.1  zinc finger protein 75D isoform X1

      UniProtKB/Swiss-Prot
      A6NK62, B3KRI7, P51815, Q5JPG0, Q6LDE0

    2. XM_054327805.1 → XP_054183780.1  zinc finger protein 75D isoform X3

    3. XM_054327804.1 → XP_054183779.1  zinc finger protein 75D isoform X2

    4. XM_054327806.1 → XP_054183781.1  zinc finger protein 75D isoform X4

    5. XM_054327807.1 → XP_054183782.1  zinc finger protein 75D isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51815.2 GenPept UniProtKB/Swiss-Prot:P51815

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