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

Gene ID: 55634, updated on 5-Mar-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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Location:
Xp11.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (46447297..46474639)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (45854267..45881590)
105.20220307 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
  • 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. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Hein MY, et al. Cell, 2015 Oct 22. PMID 26496610

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

Potential readthrough

Included gene: CHST7

Homology

Clone Names

  • FLJ20344

Gene Ontology Provided by GOA

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_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
    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

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