ELK1 ETS transcription factor ELK1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELK1provided by HGNC
Official Full Name: ETS transcription factor ELK1provided by HGNC
Primary source: HGNC:HGNC:3321
See related: Ensembl:ENSG00000126767 MIM:311040; AllianceGenome:HGNC:3321
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
Summary: This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012]
Expression: Ubiquitous expression in ovary (RPKM 19.1), brain (RPKM 15.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (47635520..47650604, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (47045421..47060507, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (47494919..47510003, complement)

Chromosome X - NC_000023.11 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
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?

Role of ELK1 in regulating colorectal cancer progression: miR-31-5p/CDIP1 axis in CRC pathogenesis.
Title: Role of ELK1 in regulating colorectal cancer progression: miR-31-5p/CDIP1 axis in CRC pathogenesis.
A-Kinase Anchor Protein 95 Is Involved in ERK1/2-Elk-1 Signal Transduction in Colon Cancer.
Title: A-Kinase Anchor Protein 95 Is Involved in ERK1/2-Elk-1 Signal Transduction in Colon Cancer.
The autism risk factor CHD8 is a chromatin activator in human neurons and functionally dependent on the ERK-MAPK pathway effector ELK1.
Title: The autism risk factor CHD8 is a chromatin activator in human neurons and functionally dependent on the ERK-MAPK pathway effector ELK1.
ELK1 suppresses SYTL1 expression by recruiting HDAC2 in bladder cancer progression.
Title: ELK1 suppresses SYTL1 expression by recruiting HDAC2 in bladder cancer progression.
Sirt7 associates with ELK1 to participate in hyperglycemia memory and diabetic nephropathy via modulation of DAPK3 expression and endothelial inflammation.
Title: Sirt7 associates with ELK1 to participate in hyperglycemia memory and diabetic nephropathy via modulation of DAPK3 expression and endothelial inflammation.
Knockdown of lncRNA LINC00662 suppresses malignant behaviour of osteosarcoma cells via competition with miR-30b-3p to regulate ELK1 expression.
Title: Knockdown of lncRNA LINC00662 suppresses malignant behaviour of osteosarcoma cells via competition with miR-30b-3p to regulate ELK1 expression.
ELK1-induced up-regulation of KIF26B promotes cell cycle progression in breast cancer.
Title: ELK1-induced up-regulation of KIF26B promotes cell cycle progression in breast cancer.
Elevated microRNA-130b-5p or silenced ELK1 inhibits self-renewal ability, proliferation, migration, and invasion abilities, and promotes apoptosis of cervical cancer stem cells.
Title: Elevated microRNA-130b-5p or silenced ELK1 inhibits self-renewal ability, proliferation, migration, and invasion abilities, and promotes apoptosis of cervical cancer stem cells.
ETS like-1 protein ELK1-induced lncRNA LINC01638 accelerates the progression of papillary thyroid cancer by regulating Axin2 through Wnt/beta-catenin signaling pathway.
Title: ETS like-1 protein ELK1-induced lncRNA LINC01638 accelerates the progression of papillary thyroid cancer by regulating Axin2 through Wnt/β-catenin signaling pathway.
A novel circular RNA circPPFIA1 promotes laryngeal squamous cell carcinoma progression through sponging miR-340-3p and regulating ELK1 expression.
Title: A novel circular RNA circPPFIA1 promotes laryngeal squamous cell carcinoma progression through sponging miR-340-3p and regulating ELK1 expression.

Submit: New GeneRIF Correction See all GeneRIFs (127)

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

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-09-26) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-09-26) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Nef increases Elk1 phosphorylation via the activation of the ERK1/2 signaling pathway in primary CD4 T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69105 (e-PCR)
- UniSTS:90124

RH18409 (e-PCR)
- UniSTS:43054

G15979 (e-PCR)
- UniSTS:53917

ELK1_602 (e-PCR)
- UniSTS:277203

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables mediator complex binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor coactivator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription regulator activator activity	IEA Inferred from Electronic Annotation more info
enables transcription regulator inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to gamma radiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to testosterone stimulus	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in hippocampal neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to fibroblast growth factor	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to light stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ETS domain-containing protein Elk-1

Names: ELK1, ETS transcription factor; ELK1, member of ETS oncogene family; ETS-like gene 1; tyrosine kinase (ELK1) oncogene

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

NG_009222.1 RefSeqGene

Range

5042..20084

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001114123.3 → NP_001107595.1 ETS domain-containing protein Elk-1 isoform a

See identical proteins and their annotated locations for NP_001107595.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as 5'UTR long or 5'UTRL) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode isoform a. Delayed translational reinitiation from an alternative downstream start codon, AUG sElk-1, can also result in a shorter isoform (sELK-1), as described in PMID:22354998.

Source sequence(s)

AL009172

Consensus CDS

CCDS14283.1

UniProtKB/Swiss-Prot

B2R7H4, O75606, O95058, P19419, Q969X8, Q9UJM4

UniProtKB/TrEMBL

Q6FG56

Related

ENSP00000366182.3, ENST00000376983.8

Conserved Domains (1) summary

smart00413
Location:4 → 89

ETS; erythroblast transformation specific domain
NM_001257168.1 → NP_001244097.1 ETS domain-containing protein Elk-1 isoform b

See identical proteins and their annotated locations for NP_001244097.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses two alternate splice sites and lacks an alternate exon which results in a frameshift in the central and 3' coding regions, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AF000672, BC056150, BQ448492, CB852603

Consensus CDS

CCDS59165.1

UniProtKB/Swiss-Prot

P19419

Related

ENSP00000345585.4, ENST00000343894.8

Conserved Domains (1) summary

smart00413
Location:4 → 89

ETS; erythroblast transformation specific domain
NM_005229.4 → NP_005220.2 ETS domain-containing protein Elk-1 isoform a

See identical proteins and their annotated locations for NP_005220.2

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as 5'UTR short or 5'UTRS) lacks an alternate exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode isoform a. Delayed translational reinitiation from an alternative downstream start codon, AUG sElk-1, can also result in a shorter isoform (sELK-1), as described in PMID:22354998.

Source sequence(s)

BC048296, BC056150, BQ448492, CB852603

Consensus CDS

CCDS14283.1

UniProtKB/Swiss-Prot

B2R7H4, O75606, O95058, P19419, Q969X8, Q9UJM4

UniProtKB/TrEMBL

Q6FG56

Related

ENSP00000247161.3, ENST00000247161.8

Conserved Domains (1) summary

smart00413
Location:4 → 89

ETS; erythroblast transformation specific domain