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

Gene ID: 7626, updated on 5-Mar-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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Location:
Xq26.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (135248589..135344109, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133574408..133670458, complement)
105.20220307 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)

Genotypes

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
    ENST00000494295.1

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_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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