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MAML3 mastermind like transcriptional coactivator 3 [ Homo sapiens (human) ]

Gene ID: 55534, updated on 13-Mar-2020

Summary

Official Symbol
MAML3provided by HGNC
Official Full Name
mastermind like transcriptional coactivator 3provided by HGNC
Primary source
HGNC:HGNC:16272
See related
Ensembl:ENSG00000196782 MIM:608991
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
GDN; MAM2; CAGH3; ERDA3; MAM-2; TNRC3; mam-3
Expression
Ubiquitous expression in ovary (RPKM 4.8), endometrium (RPKM 4.6) and 25 other tissues See more
Orthologs

Genomic context

See MAML3 in Genome Data Viewer
Location:
4q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (139716753..140154184, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140637545..141075233, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 237 Neighboring gene microsomal glutathione S-transferase 2 Neighboring gene H3 histone pseudogene 16 Neighboring gene RN7SK pseudogene 253 Neighboring gene uncharacterized LOC105377452 Neighboring gene uncharacterized LOC101927516 Neighboring gene NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 pseudogene Neighboring gene SCOC antisense RNA 1 Neighboring gene short coiled-coil protein Neighboring gene ribosomal protein L14 pseudogene 3

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.
NHGRI GWA Catalog
Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mastermind-like protein 3
Names
CAG repeat containing (glia-derived nexin I alpha)
expanded repeat domain, CAG/CTG 3
polyglutamine rich
trinucleotide repeat containing 3

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_018717.5NP_061187.3  mastermind-like protein 3

    Status: VALIDATED

    Source sequence(s)
    AC097464, AC108053, AC131182
    Consensus CDS
    CCDS54805.1
    Related
    ENSP00000421180.1, ENST00000509479.6
    Conserved Domains (3) summary
    pfam09596
    Location:68125
    MamL-1; MamL-1 domain
    pfam09606
    Location:7901091
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cl26386
    Location:372466
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    139716753..140154184 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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