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MLLT3 MLLT3 super elongation complex subunit [ Homo sapiens (human) ]

Gene ID: 4300, updated on 22-Aug-2021

Summary

Official Symbol
MLLT3provided by HGNC
Official Full Name
MLLT3 super elongation complex subunitprovided by HGNC
Primary source
HGNC:HGNC:7136
See related
Ensembl:ENSG00000171843 MIM:159558
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
AF9; YEATS3
Expression
Ubiquitous expression in thyroid (RPKM 6.2), colon (RPKM 4.6) and 23 other tissues See more
Orthologs
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Genomic context

See MLLT3 in Genome Data Viewer
Location:
9p21.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (20341669..20622499, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (20341667..20622498, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 24 member 2 Neighboring gene glutaredoxin 3 pseudogene 1 Neighboring gene survival of motor neuron 1, telomeric pseudogene Neighboring gene RNA, U4 small nuclear 26, pseudogene Neighboring gene microRNA 4473 Neighboring gene uncharacterized LOC107987052 Neighboring gene microRNA 4474 Neighboring gene ribosomal protein L7a pseudogene 48 Neighboring gene FOCAD antisense RNA 1 Neighboring gene focadhesin Neighboring gene microRNA 491

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat forms at least two distinct P-TEFb-containing complexes. Tatcom1 is composed of P-TEFb, AF9, ENL, ELL, AFF1, AFF4, and PAF1, presenting strong CTD-kinase activity, while Tatcom2 consists of 7SK, LARP7, and MEPCE with two molecules of Tat/P-TEFb 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

Clone Names

  • FLJ2035, FLJ46355

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables lysine-acetylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in extracellular exosome HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 
part_of transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein AF-9
Names
ALL1-fused gene from chromosome 9 protein
KMT2A/MLLT3 fusion protein
YEATS domain-containing protein 3
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein
myeloid/lymphoid or mixed-lineage leukemia; translocated to 3

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.

mRNA and Protein(s)

  1. NM_001286691.2NP_001273620.1  protein AF-9 isoform b

    See identical proteins and their annotated locations for NP_001273620.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK301474, AL512635, DC306929
    Consensus CDS
    CCDS69579.1
    UniProtKB/Swiss-Prot
    P42568
    Related
    ENSP00000485996.1, ENST00000630269.2
    Conserved Domains (2) summary
    cd16906
    Location:6134
    YEATS_AF-9_like; YEATS domain found in ENL and AF-9-like proteins
    pfam17793
    Location:500560
    AHD; ANC1 homology domain (AHD)
  2. NM_004529.4NP_004520.2  protein AF-9 isoform a

    See identical proteins and their annotated locations for NP_004520.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL512635, BC036089, L13744
    Consensus CDS
    CCDS6494.1
    UniProtKB/Swiss-Prot
    P42568
    UniProtKB/TrEMBL
    A0A0S2Z448
    Related
    ENSP00000369695.4, ENST00000380338.9
    Conserved Domains (2) summary
    cd16906
    Location:9137
    YEATS_AF-9_like; YEATS domain found in ENL and AF-9-like proteins
    pfam17793
    Location:503563
    AHD; ANC1 homology domain (AHD)

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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    20341669..20622499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014726.2XP_016870215.1  protein AF-9 isoform X1

  2. XM_017014727.1XP_016870216.1  protein AF-9 isoform X2

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