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    ZNF749 zinc finger protein 749 [ Homo sapiens (human) ]

    Gene ID: 388567, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ZNF749provided by HGNC
    Official Full Name
    zinc finger protein 749provided by HGNC
    Primary source
    HGNC:HGNC:32783
    See related
    Ensembl:ENSG00000186230 AllianceGenome:HGNC:32783
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ZNF749 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57428565..57447101)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (60522676..60544137)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (57946693..57958469)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15138 Neighboring gene zinc finger protein 548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:57915187-57915686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15141 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:57923026-57923228 Neighboring gene zinc finger protein 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15143 Neighboring gene vomeronasal 1 receptor 1 Neighboring gene vomeronasal 1 receptor 107 pseudogene

    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 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. Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. Tsuritani K, et al. Genome Res, 2007 Jul. PMID 17567985, Free PMC Article
    2. CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma. Chuah YH, et al. Cell Death Differ, 2023 Aug. PMID 37468549, Free PMC Article
    3. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    4. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
    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 (10) 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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    Homology

    Clone Names

    • FLJ16263, FLJ16360

    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 transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 749

    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.

    mRNA and Protein(s)

    1. NM_001023561.4 → NP_001018855.2  zinc finger protein 749 isoform 1

      See identical proteins and their annotated locations for NP_001018855.2

      Status: VALIDATED

      Source sequence(s)
      AC004076, AK122794, BP872084, DB099619
      Consensus CDS
      CCDS33132.2
      UniProtKB/Swiss-Prot
      O43361
      Related
      ENSP00000333980.4, ENST00000334181.5
      Conserved Domains (5) summary
      smart00349
      Location:8 → 62
      KRAB; krueppel associated box
      COG5048
      Location:295 → 689
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:586 → 606
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:10 → 47
      KRAB; KRAB box
      pfam13465
      Location:599 → 623
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001321952.2 → NP_001308881.1  zinc finger protein 749 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC004076, BP872084
      Conserved Domains (5) summary
      smart00349
      Location:1 → 55
      KRAB; krueppel associated box
      COG5048
      Location:288 → 682
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:579 → 599
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:3 → 40
      KRAB; KRAB box
      pfam13465
      Location:592 → 616
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001321953.2 → NP_001308882.1  zinc finger protein 749 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC004076, BP872084
      UniProtKB/Swiss-Prot
      O43361
      Conserved Domains (3) summary
      COG5048
      Location:208 → 602
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:499 → 519
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:512 → 536
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001321954.2 → NP_001308883.1  zinc finger protein 749 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC004076, BP872084, DB099619
      UniProtKB/Swiss-Prot
      O43361
      Conserved Domains (3) summary
      COG5048
      Location:208 → 602
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:499 → 519
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:512 → 536
      zf-H2C2_2; Zinc-finger double domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      57428565..57447101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526956.3 → XP_011525258.1  zinc finger protein 749 isoform X1

      See identical proteins and their annotated locations for XP_011525258.1

      Conserved Domains (5) summary
      smart00349
      Location:1 → 55
      KRAB; krueppel associated box
      COG5048
      Location:288 → 682
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:579 → 599
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:3 → 40
      KRAB; KRAB box
      pfam13465
      Location:592 → 616
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      60522676..60544137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320972.1 → XP_054176947.1  zinc finger protein 749 isoform X2

    2. XM_054320973.1 → XP_054176948.1  zinc finger protein 749 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43361.2 GenPept UniProtKB/Swiss-Prot:O43361

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