SP5 Sp5 transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: SP5provided by HGNC
Official Full Name: Sp5 transcription factorprovided by HGNC
Primary source: HGNC:HGNC:14529
See related: Ensembl:ENSG00000204335 MIM:609391; AllianceGenome:HGNC:14529
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
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within bone morphogenesis; cellular response to organic cyclic compound; and post-anal tail morphogenesis. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in endometrium (RPKM 1.5), prostate (RPKM 0.9) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (170715337..170718078)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (171192053..171195210)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (171571847..171574588)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CPT1A mediates the succinylation of SP5 which activates transcription of PDPK1 to promote the viability and glycolysis of prostate cancer cells.
Title: CPT1A mediates the succinylation of SP5 which activates transcription of PDPK1 to promote the viability and glycolysis of prostate cancer cells.
Circular RNA circSP5 promotes liver metastasis of colorectal cancer via SP5-mediated BAMBI transcription.
Title: Circular RNA circSP5 promotes liver metastasis of colorectal cancer via SP5-mediated BAMBI transcription.
SP5 negatively regulates WNT3a transcriptional programs in human pluripotent stem cells.
Title: The WNT target SP5 negatively regulates WNT transcriptional programs in human pluripotent stem cells.
human Sp5 is a member of Sp transcription factor family with a role in human cancers
Title: Elevated expression and potential roles of human Sp5, a member of Sp transcription factor family, in human cancers.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in bone morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transcription factor Sp5

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.

mRNA and Protein(s)

NM_001003845.3 → NP_001003845.1 transcription factor Sp5

See identical proteins and their annotated locations for NP_001003845.1

Status: VALIDATED

Source sequence(s)

AB096175, AC007405, AW450640, BQ064677, CN275885

Consensus CDS

CCDS33322.1

UniProtKB/Swiss-Prot

Q6BEB4

Related

ENSP00000364430.3, ENST00000375281.4

Conserved Domains (4) summary

COG5048
Location:311 → 384

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:301 → 320

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:356 → 378

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:342 → 365

zf-H2C2_2; Zinc-finger double domain

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

170715337..170718078

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005246542.5 → XP_005246599.1 transcription factor Sp5 isoform X1

Conserved Domains (4) summary

COG5048
Location:355 → 428

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:345 → 364

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:400 → 422

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:386 → 409

zf-H2C2_2; Zinc-finger double domain
XM_047444264.1 → XP_047300220.1 transcription factor Sp5 isoform X2