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EAF1 ELL associated factor 1 [ Homo sapiens (human) ]

Gene ID: 85403, updated on 10-Oct-2019

Summary

Official Symbol
EAF1provided by HGNC
Official Full Name
ELL associated factor 1provided by HGNC
Primary source
HGNC:HGNC:20907
See related
Ensembl:ENSG00000144597 MIM:608315
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
Expression
Ubiquitous expression in bone marrow (RPKM 21.6), brain (RPKM 8.9) and 25 other tissues See more
Orthologs

Genomic context

See EAF1 in Genome Data Viewer
Location:
3p25.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (15427598..15442613)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15469064..15484120)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 7 Neighboring gene methyltransferase like 6 Neighboring gene RNA, U6 small nuclear 1024, pseudogene Neighboring gene collagen like tail subunit of asymmetric acetylcholinesterase Neighboring gene uncharacterized LOC105376964 Neighboring gene microRNA 4270

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?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Cajal body IEA
Inferred from Electronic Annotation
more info
 
ELL-EAF complex IEA
Inferred from Electronic Annotation
more info
 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ELL-associated factor 1
Names
ELL (eleven nineteen lysine-rich leukemia gene)-associated factor 1

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_033083.7NP_149074.3  ELL-associated factor 1

    See identical proteins and their annotated locations for NP_149074.3

    Status: VALIDATED

    Source sequence(s)
    AC027125, AF272973, AL698790, BC035167, BC041329
    Consensus CDS
    CCDS2626.1
    UniProtKB/Swiss-Prot
    Q96JC9
    Related
    ENSP00000380054.2, ENST00000396842.7
    Conserved Domains (1) summary
    pfam09816
    Location:16114
    EAF; RNA polymerase II transcription elongation factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    15427598..15442613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265518.2XP_005265575.1  ELL-associated factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005265575.1

    UniProtKB/Swiss-Prot
    Q96JC9
  2. XM_011534165.1XP_011532467.1  ELL-associated factor 1 isoform X1

    See identical proteins and their annotated locations for XP_011532467.1

    UniProtKB/Swiss-Prot
    Q96JC9
  3. XM_011534166.1XP_011532468.1  ELL-associated factor 1 isoform X1

    See identical proteins and their annotated locations for XP_011532468.1

    UniProtKB/Swiss-Prot
    Q96JC9
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