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ELF1 E74 like ETS transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 1997, updated on 12-Aug-2018

Summary

Official Symbol
ELF1provided by HGNC
Official Full Name
E74 like ETS transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:3316
See related
Ensembl:ENSG00000120690 MIM:189973; Vega:OTTHUMG00000016783
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
RIA1; EFTUD1
Summary
This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in bone marrow (RPKM 46.7), lymph node (RPKM 34.5) and 25 other tissues See more
Orthologs

Genomic context

See ELF1 in Genome Data Viewer
Location:
13q14.11
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (40931919..41061384, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (41506055..41635544, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 5 Neighboring gene cytochrome c, somatic pseudogene 34 Neighboring gene SUGT1P3 overlapping homotypic cluster of transcription factor binding sites enhancer Neighboring gene SUGT1 pseudogene 3 Neighboring gene regulator of G protein signaling 17 pseudogene 1 Neighboring gene transfer RNA-Glu (TTC) 1-2 Neighboring gene WW domain binding protein 4 Neighboring gene microRNA 3168 Neighboring gene RNA, 7SL, cytoplasmic 597, pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
NHGRI GWA Catalog
ELF1 is associated with systemic lupus erythematosus in Asian populations.
NHGRI GWA Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ETS-related transcription factor Elf-1
Names
E74-like factor 1 (ets domain transcription factor)

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_001145353.1NP_001138825.1  ETS-related transcription factor Elf-1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the mid coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AK304289, AL157877, BX640798, M82882
    Consensus CDS
    CCDS45043.1
    UniProtKB/Swiss-Prot
    P32519
    UniProtKB/TrEMBL
    Q6MZZ4
    Related
    ENSP00000486912.1, OTTHUMP00000278547, ENST00000625359.1, OTTHUMT00000481774
    Conserved Domains (2) summary
    pfam00178
    Location:186265
    Ets; Ets-domain
    pfam12310
    Location:2111
    Elf-1_N; Transcription factor protein N terminal
  2. NM_172373.3NP_758961.1  ETS-related transcription factor Elf-1 isoform a

    See identical proteins and their annotated locations for NP_758961.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL157877, BC030507, BX640798, DC418141, M82882
    Consensus CDS
    CCDS9374.1
    UniProtKB/Swiss-Prot
    P32519
    UniProtKB/TrEMBL
    A0A024RDU6, Q6MZZ4
    Related
    ENSP00000239882.3, OTTHUMP00000018310, ENST00000239882.6, OTTHUMT00000044654
    Conserved Domains (2) summary
    smart00413
    Location:207289
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:2111
    Elf-1_N; Transcription factor protein N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    40931919..41061384 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266277.4XP_005266334.1  ETS-related transcription factor Elf-1 isoform X1

    See identical proteins and their annotated locations for XP_005266334.1

    UniProtKB/Swiss-Prot
    P32519
    UniProtKB/TrEMBL
    A0A024RDU6
    Conserved Domains (2) summary
    smart00413
    Location:207289
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:2111
    Elf-1_N; Transcription factor protein N terminal
  2. XM_011534950.1XP_011533252.1  ETS-related transcription factor Elf-1 isoform X1

    See identical proteins and their annotated locations for XP_011533252.1

    UniProtKB/Swiss-Prot
    P32519
    UniProtKB/TrEMBL
    A0A024RDU6
    Conserved Domains (2) summary
    smart00413
    Location:207289
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:2111
    Elf-1_N; Transcription factor protein N terminal
  3. XM_005266276.1XP_005266333.1  ETS-related transcription factor Elf-1 isoform X1

    See identical proteins and their annotated locations for XP_005266333.1

    UniProtKB/Swiss-Prot
    P32519
    UniProtKB/TrEMBL
    A0A024RDU6
    Related
    ENSP00000489586.1, OTTHUMP00000281577, ENST00000635415.1, OTTHUMT00000488693
    Conserved Domains (2) summary
    smart00413
    Location:207289
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:2111
    Elf-1_N; Transcription factor protein N terminal
  4. XM_011534951.3XP_011533253.1  ETS-related transcription factor Elf-1 isoform X2

    Conserved Domains (2) summary
    pfam00178
    Location:151230
    Ets; Ets-domain
    pfam12310
    Location:152
    Elf-1_N; Transcription factor protein N terminal
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