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ELP3 elongator acetyltransferase complex subunit 3 [ Homo sapiens (human) ]

Gene ID: 55140, updated on 21-Dec-2019

Summary

Official Symbol
ELP3provided by HGNC
Official Full Name
elongator acetyltransferase complex subunit 3provided by HGNC
Primary source
HGNC:HGNC:20696
See related
Ensembl:ENSG00000134014 MIM:612722
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
Also known as
KAT9
Summary
ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]
Expression
Ubiquitous expression in brain (RPKM 10.1), endometrium (RPKM 9.6) and 25 other tissues See more
Orthologs

Genomic context

See ELP3 in Genome Data Viewer
Location:
8p21.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (28090232..28191153)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27950584..28048670)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene scavenger receptor class A member 5 Neighboring gene uncharacterized LOC105379342 Neighboring gene nuclear GTPase, germinal center associated Neighboring gene uncharacterized LOC105379343 Neighboring gene delta 4-desaturase, sphingolipid 1 pseudogene Neighboring gene PDZ and LIM domain 7 (enigma) 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10422

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
N-acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphorylase kinase regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tRNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Elongator holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Elongator holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
elongator complex protein 3
Names
elongation protein 3 homolog
protein lysine acetyltransferase ELP3
tRNA uridine(34) acetyltransferase
NP_001271149.1
NP_001271151.1
NP_001271153.1
NP_001271154.1
NP_001271155.1
NP_060561.3
XP_006716417.1
XP_016869093.1
XP_024302952.1
XP_024302953.1

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_001284220.2NP_001271149.1  elongator complex protein 3 isoform 2

    See identical proteins and their annotated locations for NP_001271149.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC019031, AC021678, AK296475, BU683531
    Consensus CDS
    CCDS75718.1
    UniProtKB/TrEMBL
    B4DKA4
    Related
    ENSP00000429180.1, ENST00000524103.5
    Conserved Domains (3) summary
    cd01335
    Location:24268
    Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
    COG1243
    Location:1474
    ELP3; Histone acetyltransferase, component of the RNA polymerase elongator complex [Transcription, Chromatin structure and dynamics]
    pfam16199
    Location:242320
    Radical_SAM_C; Radical_SAM C-terminal domain
  2. NM_001284222.2NP_001271151.1  elongator complex protein 3 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC019031, AC021678, BU683531, BX648011, DA877844
    Consensus CDS
    CCDS75717.1
    UniProtKB/Swiss-Prot
    Q9H9T3
    Related
    ENSP00000428449.1, ENST00000521015.5
    Conserved Domains (1) summary
    cl25699
    Location:22532
    Radical_SAM_C; Radical_SAM C-terminal domain
  3. NM_001284224.2NP_001271153.1  elongator complex protein 3 isoform 4

    See identical proteins and their annotated locations for NP_001271153.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC019031, AC021678, AK302140, BU683531
    Consensus CDS
    CCDS64861.1
    UniProtKB/Swiss-Prot
    Q9H9T3
    UniProtKB/TrEMBL
    B4DXV1
    Conserved Domains (1) summary
    COG1243
    Location:13427
    ELP3; Histone acetyltransferase, component of the RNA polymerase elongator complex [Transcription, Chromatin structure and dynamics]
  4. NM_001284225.1NP_001271154.1  elongator complex protein 3 isoform 4

    See identical proteins and their annotated locations for NP_001271154.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform 1. Variants 4 and 5 encode the same isoform (5).
    Source sequence(s)
    AC019031, AC021678, AK293424, BU683531
    Consensus CDS
    CCDS64861.1
    UniProtKB/Swiss-Prot
    Q9H9T3
    Related
    ENSP00000445558.1, ENST00000537665.2
    Conserved Domains (1) summary
    COG1243
    Location:13427
    ELP3; Histone acetyltransferase, component of the RNA polymerase elongator complex [Transcription, Chromatin structure and dynamics]
  5. NM_001284226.1NP_001271155.1  elongator complex protein 3 isoform 5

    See identical proteins and their annotated locations for NP_001271155.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (6) with a shorter N-terminus, compared to isoform 1
    Source sequence(s)
    AC019031, AC021678, AK295574, BU683531
    Consensus CDS
    CCDS64860.1
    UniProtKB/Swiss-Prot
    Q9H9T3
    Related
    ENSP00000369711.4, ENST00000380353.8
    Conserved Domains (1) summary
    cl25699
    Location:1454
    Radical_SAM_C; Radical_SAM C-terminal domain
  6. NM_018091.6NP_060561.3  elongator complex protein 3 isoform 1

    See identical proteins and their annotated locations for NP_060561.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL834273, BM663362, DA150994
    Consensus CDS
    CCDS6065.1
    UniProtKB/Swiss-Prot
    Q9H9T3
    Related
    ENSP00000256398.8, ENST00000256398.13
    Conserved Domains (3) summary
    cd01335
    Location:96340
    Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
    TIGR01211
    Location:36546
    ELP3; radical SAM enzyme/protein acetyltransferase, ELP3 family
    pfam16199
    Location:314392
    Radical_SAM_C; Radical_SAM C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    28090232..28191153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447184.1XP_024302952.1  elongator complex protein 3 isoform X2

    Conserved Domains (1) summary
    cl25699
    Location:22532
    Radical_SAM_C; Radical_SAM C-terminal domain
  2. XM_024447185.1XP_024302953.1  elongator complex protein 3 isoform X3

    Conserved Domains (1) summary
    cl25699
    Location:2463
    Radical_SAM_C; Radical_SAM C-terminal domain
  3. XM_017013604.2XP_016869093.1  elongator complex protein 3 isoform X1

  4. XM_006716354.3XP_006716417.1  elongator complex protein 3 isoform X4

    See identical proteins and their annotated locations for XP_006716417.1

    UniProtKB/Swiss-Prot
    Q9H9T3
    Conserved Domains (1) summary
    COG1243
    Location:13427
    ELP3; Histone acetyltransferase, component of the RNA polymerase elongator complex [Transcription, Chromatin structure and dynamics]
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