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

Gene ID: 55634, updated on 13-Mar-2020

Summary

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
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

Genomic context

See KRBOX4 in Genome Data Viewer
Location:
Xp11.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (46447189..46474639)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46306624..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 VEZT pseudogene 1 Neighboring gene zinc finger protein 674 Neighboring gene RNA, U6 small nuclear 50, pseudogene Neighboring gene ZNF674 antisense RNA 1 (head to head)

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CHST7

Homology

Clone Names

  • FLJ20344

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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
    5001..32451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001129898.2NP_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
    Q5JUW0
    Related
    ENSP00000345797.4, ENST00000344302.9
    Conserved Domains (2) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    pfam01352
    Location:847
    KRAB; KRAB box
  2. NM_001129899.1NP_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, DA877282
    Consensus CDS
    CCDS48098.1
    UniProtKB/Swiss-Prot
    Q5JUW0
    Related
    ENSP00000418076.1, ENST00000487081.1
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  3. NM_001129900.1NP_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, DA877282
    UniProtKB/Swiss-Prot
    Q5JUW0
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  4. NM_017776.2NP_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:868
    KRAB; krueppel associated box
    pfam01352
    Location:847
    KRAB; KRAB box

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    46447189..46474639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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