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

Gene ID: 2002, updated on 12-Sep-2021

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
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
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Genomic context

See ELK1 in Genome Data Viewer
Location:
Xp11.23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (47635520..47650604, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47494919..47510003, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene synapsin I Neighboring gene microRNA 4769 Neighboring gene complement factor properdin Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element Neighboring gene CRISPRi-validated cis-regulatory element chrX.881 Neighboring gene ubiquitously expressed prefoldin like chaperone Neighboring gene UXT antisense RNA 1

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 2012-09-26)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-09-26)

ClinGen Genome Curation Page

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 liver development IEA
Inferred from Electronic Annotation
more info
 
involved_in lung development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neuron death IEA
Inferred from Electronic Annotation
more info
 
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 
acts_upstream_of_or_within positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated 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
PubMed 
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 mitochondrion 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
PubMed 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

  1. NG_009222.1 RefSeqGene

    Range
    5001..20085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001114123.3NP_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
    P19419
    UniProtKB/TrEMBL
    A0A024R1A7
    Related
    ENSP00000366182.3, ENST00000376983.8
    Conserved Domains (1) summary
    smart00413
    Location:489
    ETS; erythroblast transformation specific domain
  2. NM_001257168.1NP_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:489
    ETS; erythroblast transformation specific domain
  3. NM_005229.4NP_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
    P19419
    UniProtKB/TrEMBL
    A0A024R1A7, Q86SR6
    Related
    ENSP00000247161.3, ENST00000247161.7
    Conserved Domains (1) summary
    smart00413
    Location:489
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    47635520..47650604 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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