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

Gene ID: 55140, updated on 26-May-2016
Official Symbol
ELP3provided by HGNC
Official Full Name
elongator acetyltransferase complex subunit 3provided by HGNC
Primary source
HGNC:HGNC:20696
See related
Ensembl:ENSG00000134014 HPRD:10936; MIM:612722; Vega:OTTHUMG00000102124
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]
Orthologs
Location:
8p21.1
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (28090231..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 degenerative spermatocyte homolog 1, lipid desaturase (Drosophila) pseudogene Neighboring gene PDZ and LIM domain 7 (enigma) pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • HATs acetylate histones, organism-specific biosystem (from REACTOME)
    HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ10422

Gene Ontology Provided by GOA

Function Evidence Code Pubs
H3 histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
H4 histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to RNA polymerase II core binding IDA
Inferred from Direct Assay
more info
PubMed 
iron-sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
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 
Process Evidence Code Pubs
central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
histone H3 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
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 from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
tRNA wobble uridine modification IBA
Inferred from Biological aspect of Ancestor
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Elongator holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
elongator complex protein 3
Names
elongation protein 3 homolog
NP_001271149.1
NP_001271151.1
NP_001271153.1
NP_001271154.1
NP_001271155.1
NP_060561.3

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_001284220.1NP_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, OTTHUMP00000225330, ENST00000524103, OTTHUMT00000376292
    Conserved Domains (2) 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]
  2. NM_001284222.1NP_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, OTTHUMP00000225327, ENST00000521015, OTTHUMT00000376288
    Conserved Domains (2) summary
    cd01335
    Location:82326
    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:22532
    ELP3; radical SAM enzyme/protein acetyltransferase, ELP3 family
  3. NM_001284224.1NP_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 (2) summary
    cd01335
    Location:11221
    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. ...
    pfam04055
    Location:12185
    Radical_SAM; Radical SAM superfamily
  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, ENST00000537665
    Conserved Domains (2) summary
    cd01335
    Location:11221
    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. ...
    pfam04055
    Location:12185
    Radical_SAM; Radical SAM superfamily
  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, ENST00000380353
    Conserved Domains (1) summary
    cd01335
    Location:4248
    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. ...
  6. NM_018091.5NP_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, DA787116
    Consensus CDS
    CCDS6065.1
    UniProtKB/Swiss-Prot
    Q9H9T3
    Related
    ENSP00000256398, OTTHUMP00000128319, ENST00000256398, OTTHUMT00000219963
    Conserved Domains (2) 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    28090231..28191153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716354.1XP_006716417.1  

    See identical proteins and their annotated locations for XP_006716417.1

    UniProtKB/Swiss-Prot
    Q9H9T3
    Conserved Domains (2) summary
    cd01335
    Location:11221
    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. ...
    pfam04055
    Location:12185
    Radical_SAM; Radical SAM superfamily

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    28149840..28250744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)