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KLF8 Kruppel like factor 8 [ Homo sapiens (human) ]

Gene ID: 11279, updated on 1-Aug-2020

Summary

Official Symbol
KLF8provided by HGNC
Official Full Name
Kruppel like factor 8provided by HGNC
Primary source
HGNC:HGNC:6351
See related
Ensembl:ENSG00000102349 MIM:300286
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
BKLF3; ZNF741
Summary
This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Expression
Broad expression in skin (RPKM 8.2), fat (RPKM 3.4) and 20 other tissues See more
Orthologs

Genomic context

See KLF8 in Genome Data Viewer
Location:
Xp11.21
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (55908123..56291531)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (56258814..56314322)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene XAGE-4 protein Neighboring gene Ras related GTP binding B Neighboring gene GOT2 pseudogene 6 Neighboring gene ribosomal protein L23a pseudogene 83 Neighboring gene ubiquilin 2 Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene 1 Neighboring gene negative regulator of P-body association

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-10-12)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-10-12)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138314, DKFZp686O08126

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
aggresome IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
Krueppel-like factor 8
Names
basic krueppel-like factor 3
basic kruppel-like factor 3
zinc finger protein 741

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_011949.2 RefSeqGene

    Range
    329234..388409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001159296.2NP_001152768.1  Krueppel-like factor 8 isoform 2

    See identical proteins and their annotated locations for NP_001152768.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the 3' coding region that causes a frameshift compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK296156, AL050309, BX322609, DA874419
    Consensus CDS
    CCDS55428.1
    UniProtKB/Swiss-Prot
    O95600
    Related
    ENSP00000364063.3, ENST00000374928.7
  2. NM_001324099.1NP_001311028.1  Krueppel-like factor 8 isoform 3

    Status: REVIEWED

    Source sequence(s)
    BC105130, BX322609, HF546208
    Consensus CDS
    CCDS87749.1
    UniProtKB/Swiss-Prot
    O95600
    Related
    ENSP00000492126.1, ENST00000640927.1
  3. NM_001324100.1NP_001311029.1  Krueppel-like factor 8 isoform 4

    Status: REVIEWED

    Source sequence(s)
    BC105130, BX322609, HF546209
    UniProtKB/Swiss-Prot
    O95600
    Conserved Domains (4) summary
    COG5048
    Location:218271
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:222244
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:220244
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:236261
    zf-H2C2_2; Zinc-finger double domain
  4. NM_001324102.1NP_001311031.1  Krueppel-like factor 8 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL050309, BX322609
    Consensus CDS
    CCDS14373.1
    UniProtKB/Swiss-Prot
    O95600
    UniProtKB/TrEMBL
    A0A024R9X4
    Conserved Domains (3) summary
    COG5048
    Location:220346
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:276298
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:320345
    zf-H2C2_2; Zinc-finger double domain
  5. NM_001324104.1NP_001311033.1  Krueppel-like factor 8 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) initiates at an upstream promoter compared to variant 1.
    Source sequence(s)
    AL050309, AL353698, AL445472, BX322609
  6. NM_001324105.1NP_001311034.1  Krueppel-like factor 8 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) initiates at an upstream promoter compared to variant 1.
    Source sequence(s)
    AL050309, AL445472, BX322609
  7. NM_007250.5NP_009181.2  Krueppel-like factor 8 isoform 1

    See identical proteins and their annotated locations for NP_009181.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 5 encode the same isoform (1).
    Source sequence(s)
    AL050309, BC105130, BX322609
    Consensus CDS
    CCDS14373.1
    UniProtKB/Swiss-Prot
    O95600
    UniProtKB/TrEMBL
    A0A024R9X4
    Related
    ENSP00000417303.1, ENST00000468660.6
    Conserved Domains (3) summary
    COG5048
    Location:220346
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:276298
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:320345
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_136704.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BC031355, BC105130, BX322609
  2. NR_136705.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB209004, AL050309, BX322609

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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
    55908123..56291531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724575.2XP_006724638.1  Krueppel-like factor 8 isoform X3

    See identical proteins and their annotated locations for XP_006724638.1

    UniProtKB/Swiss-Prot
    O95600
    Conserved Domains (1) summary
    pfam10477
    Location:12202
    EIF4E-T; Nucleocytoplasmic shuttling protein for mRNA cap-binding EIF4E
  2. XM_011530759.2XP_011529061.1  Krueppel-like factor 8 isoform X2

    See identical proteins and their annotated locations for XP_011529061.1

    Conserved Domains (4) summary
    COG5048
    Location:267337
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:271293
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:269293
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:315340
    zf-H2C2_2; Zinc-finger double domain
  3. XM_024452332.1XP_024308100.1  Krueppel-like factor 8 isoform X4

    Related
    ENSP00000431911.1, ENST00000358094.7
  4. XM_005261977.3XP_005262034.1  Krueppel-like factor 8 isoform X1

    See identical proteins and their annotated locations for XP_005262034.1

    UniProtKB/Swiss-Prot
    O95600
    UniProtKB/TrEMBL
    A0A024R9X4
    Conserved Domains (3) summary
    COG5048
    Location:220346
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:276298
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:320345
    zf-H2C2_2; Zinc-finger double domain
  5. XM_017029250.2XP_016884739.1  Krueppel-like factor 8 isoform X2

    Conserved Domains (4) summary
    COG5048
    Location:267337
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:271293
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:269293
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:315340
    zf-H2C2_2; Zinc-finger double domain
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