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    KRBOX4 KRAB box domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 55634, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KRBOX4provided by HGNC
    Official Full Name
    KRAB box domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:26007
    See related
    Ensembl:ENSG00000147121 MIM:300585; AllianceGenome:HGNC:26007
    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
    ZNF673
    Summary
    This encodes a zinc finger protein with an N-terminal KRAB (Kruppel-associated) domain found in transcriptional repressors. This gene is located in a region of the X chromosome thought to be involved in nonsyndromic X-linked cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in ovary (RPKM 5.3), endometrium (RPKM 5.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See KRBOX4 in Genome Data Viewer
    Location:
    Xp11.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (46447297..46474639)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (45854267..45881590)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46306732..46334074)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CTNNBL1 pseudogene 1 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 65 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:46306311-46306968 Neighboring gene VEZT pseudogene 1 Neighboring gene zinc finger protein 674 Neighboring gene U6 spliceosomal RNA Neighboring gene RNA, U6 small nuclear 50, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:46404230-46405429 Neighboring gene ZNF674 antisense RNA 1 (head to head)

    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. ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Lugtenberg D, et al. Am J Hum Genet, 2006 Feb. PMID 16385466, Free PMC Article
    2. An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders. Thiselton DL, et al. Genomics, 2002 Apr. PMID 11944989
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    4. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (12) 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

    Potential readthrough

    Included gene: CHST7

    Homology

    Clone Names

    • FLJ20344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    KRAB domain-containing protein 4
    Names
    KRAB box domain-containing protein 4
    putative zinc finger transcription factor
    zinc finger family member 673
    zinc finger protein 673

    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_022935.1 RefSeqGene

      Range
      5109..32451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001129898.2 → NP_001123370.1  KRAB domain-containing protein 4 isoform 1

      See identical proteins and their annotated locations for NP_001123370.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
      Source sequence(s)
      AK000351, AK096413, AL139811
      Consensus CDS
      CCDS48097.1
      UniProtKB/Swiss-Prot
      A8K0Y8, B3KU22, Q5JUW0, Q96EA3, Q9NXB1
      Related
      ENSP00000345797.4, ENST00000344302.9
      Conserved Domains (2) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      pfam01352
      Location:8 → 47
      KRAB; KRAB box

    2. NM_001129899.2 → NP_001123371.1  KRAB domain-containing protein 4 isoform 3

      See identical proteins and their annotated locations for NP_001123371.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a different segment in the 3' coding region that shifts the reading frame, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK000351, AL139811, DA152034
      Consensus CDS
      CCDS48098.1
      UniProtKB/TrEMBL
      C9J950
      Related
      ENSP00000418076.1, ENST00000487081.1
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    3. NM_001129900.2 → NP_001123372.1  KRAB domain-containing protein 4 isoform 4

      See identical proteins and their annotated locations for NP_001123372.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses a different splice site and contains a different segment in the 3' coding region that shifts the reading frame, compared to variant 1. The resulting protein (isoform 4) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK000351, AL139811, DA631861
      UniProtKB/TrEMBL
      C9J950
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    4. NM_017776.3 → NP_060246.2  KRAB domain-containing protein 4 isoform 2

      See identical proteins and their annotated locations for NP_060246.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the CDS, compared to variant 1. The resulting protein (isoform 2) is shorter by 5 aa when it is compared to isoform 1.
      Source sequence(s)
      AK000351, AL139811, BC012569, DA877282
      Consensus CDS
      CCDS14267.1
      UniProtKB/Swiss-Prot
      Q5JUW0
      Related
      ENSP00000298190.6, ENST00000298190.10
      Conserved Domains (2) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      pfam01352
      Location:8 → 47
      KRAB; KRAB box

    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
      46447297..46474639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      45854267..45881590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JUW0.1 GenPept UniProtKB/Swiss-Prot:Q5JUW0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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