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SP6 Sp6 transcription factor [ Homo sapiens (human) ]

Gene ID: 80320, updated on 1-Aug-2020

Summary

Official Symbol
SP6provided by HGNC
Official Full Name
Sp6 transcription factorprovided by HGNC
Primary source
HGNC:HGNC:14530
See related
Ensembl:ENSG00000189120 MIM:608613
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
Also known as
EPFN; KLF14; EPIPROFIN
Summary
SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in placenta (RPKM 11.3), skin (RPKM 2.8) and 6 other tissues See more
Orthologs

Genomic context

See SP6 in Genome Data Viewer
Location:
17q21.32
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (47844908..47876312, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45922280..45933240, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L10 Neighboring gene leucine rich repeat containing 46 Neighboring gene secernin 2 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3281 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3283 Neighboring gene uncharacterized LOC102724532

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

Homology

Clone Names

  • MGC119662, MGC119663, MGC119664, MGC119665

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of odontogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
transcription factor Sp6
Names
Kruppel-like factor 14
krueppel-like factor 14

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.

mRNA and Protein(s)

  1. NM_001258248.2NP_001245177.1  transcription factor Sp6

    See identical proteins and their annotated locations for NP_001245177.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC003665, AK127707
    Consensus CDS
    CCDS11520.1
    UniProtKB/Swiss-Prot
    Q3SY56
    UniProtKB/TrEMBL
    B3KXP2
    Related
    ENSP00000438209.1, ENST00000536300.2
    Conserved Domains (2) summary
    COG5048
    Location:261336
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:259278
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_199262.3NP_954871.1  transcription factor Sp6

    See identical proteins and their annotated locations for NP_954871.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC003665, AK127707, AK127850
    Consensus CDS
    CCDS11520.1
    UniProtKB/Swiss-Prot
    Q3SY56
    UniProtKB/TrEMBL
    B3KXP2
    Related
    ENSP00000340799.2, ENST00000342234.3
    Conserved Domains (2) summary
    COG5048
    Location:261336
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:259278
    ZF_C2H2; C2H2 Zn finger [structural motif]

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    47844908..47876312 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722115.3XP_006722178.1  transcription factor Sp6 isoform X1

    See identical proteins and their annotated locations for XP_006722178.1

    UniProtKB/Swiss-Prot
    Q3SY56
    Conserved Domains (2) summary
    COG5048
    Location:261336
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:259278
    ZF_C2H2; C2H2 Zn finger [structural motif]
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