MED27 mediator complex subunit 27 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MED27provided by HGNC
Official Full Name: mediator complex subunit 27provided by HGNC
Primary source: HGNC:HGNC:2377
See related: Ensembl:ENSG00000160563 MIM:605044; AllianceGenome:HGNC:2377
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MED3; CRSP8; CRAP34; CRSP34; TRAP37; NEDSCAC
Summary: The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in testis (RPKM 2.5), brain (RPKM 2.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (131860112..132079867, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (144073412..144293910, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (134735499..134955254, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Title: Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
MED27 plays a tumor-promoting role in breast cancer progression by targeting KLF4.
Title: MED27 plays a tumor-promoting role in breast cancer progression by targeting KLF4.
Knockdown of mediator complex subunit 27 suppresses gastric cancer cell metastasis and angiogenesis via Wnt/beta-catenin pathway.
Title: Knockdown of mediator complex subunit 27 suppresses gastric cancer cell metastasis and angiogenesis via Wnt/β-catenin pathway.
CRSP8 promotes thyroid cancer progression by antagonizing IKKalpha-induced cell differentiation.
Title: CRSP8 promotes thyroid cancer progression by antagonizing IKKα-induced cell differentiation.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Title: MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
MED27 promotes malignant behavior of cells by affecting Sp1 in breast cancer.
Title: MED27 promotes malignant behavior of cells by affecting Sp1 in breast cancer.
The MED27 plays a negative role in adrenal cortical carcinoma (ACC) occurrence and progression and could be utilized as a new therapeutic target in ACC prevention and treatment.
Title: Silencing of MED27 inhibits adrenal cortical carcinogenesis by targeting the Wnt/β-catenin signaling pathway and the epithelial-mesenchymal transition process.
The findings of the present study may aid in the clarification of the function of miR18a, particularly as regards its role in the regulation of Osteosarcoma (OS)cell apoptosis, and indicate that MED27 may be a potential novel therapeutic target in the treatment of OS.
Title: MicroRNA-18a inhibits cell growth and induces apoptosis in osteosarcoma by targeting MED27.
MED27 promotes melanoma growth by targeting AKT/MAPK and NF-kappaB/iNOS signaling pathways.
Title: MED27 promotes melanoma growth by targeting AKT/MAPK and NF-κB/iNOS signaling pathways.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MedGen: C5543306 OMIM: 619286 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of mediator complex subunit 27 (MED27) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Knockdown of MED27 by siRNAs inhibits HIV LTR-beta-gal activation in the Tat transactivation assay	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

SHGC-106947 (e-PCR)
- UniSTS:184868

SHGC-149023 (e-PCR)
- UniSTS:173095

D8S2279 (e-PCR)
- UniSTS:473907

G28634 (e-PCR)
- UniSTS:49235

FB3E1 (e-PCR)
- UniSTS:43622

A007C13 (e-PCR)
- UniSTS:40040

G35510 (e-PCR)
- UniSTS:44150

SHGC-147034 (e-PCR)
- UniSTS:172735

RH104433 (e-PCR)
- UniSTS:98758

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA polymerase II preinitiation complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription elongation by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in transcription initiation at RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of core mediator complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
part_of mediator complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mediator of RNA polymerase II transcription subunit 27

Names: CRSP complex subunit 8; cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa; epididymis secretory sperm binding protein; p37 TRAP/SMCC/PC2 subunit; transcriptional coactivator CRSP34

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)

NM_001253881.2 → NP_001240810.1 mediator of RNA polymerase II transcription subunit 27 isoform 2

See identical proteins and their annotated locations for NP_001240810.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. the encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

BC002878, BP255072

Consensus CDS

CCDS59153.1

UniProtKB/Swiss-Prot

Q6P2C8

Related

ENSP00000349530.3, ENST00000357028.6

Conserved Domains (1) summary

pfam11571
Location:192 → 273

Med27; Mediator complex subunit 27
NM_001253882.2 → NP_001240811.1 mediator of RNA polymerase II transcription subunit 27 isoform 3

See identical proteins and their annotated locations for NP_001240811.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate terminal exon and lacks a large portion of the 3' coding region, compared to variant 1. The encoded isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BP255072, BU069864, CD388680

Consensus CDS

CCDS69689.1

UniProtKB/Swiss-Prot

Q6P2C8

Related

ENSP00000477136.1, ENST00000474263.1
NM_004269.4 → NP_004260.2 mediator of RNA polymerase II transcription subunit 27 isoform 1

See identical proteins and their annotated locations for NP_004260.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BC064608, BP255072

Consensus CDS

CCDS6945.1

UniProtKB/Swiss-Prot

O95401, Q4F964, Q5VTA4, Q5VTA5, Q6P2C8, Q9BU57, Q9NYR4, V9GYV9

UniProtKB/TrEMBL

A0A494C0K7

Related

ENSP00000292035.5, ENST00000292035.10

Conserved Domains (1) summary

pfam11571
Location:228 → 309

Med27; Mediator complex subunit 27

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

131860112..132079867 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017015329.2 → XP_016870818.1 mediator of RNA polymerase II transcription subunit 27 isoform X1
XM_005272236.4 → XP_005272293.1 mediator of RNA polymerase II transcription subunit 27 isoform X3

UniProtKB/TrEMBL

B4DPP5
XM_017015330.3 → XP_016870819.1 mediator of RNA polymerase II transcription subunit 27 isoform X2

UniProtKB/TrEMBL

B4DPP5

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

144073412..144293910 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364203.1 → XP_054220178.1 mediator of RNA polymerase II transcription subunit 27 isoform X1
XM_054364205.1 → XP_054220180.1 mediator of RNA polymerase II transcription subunit 27 isoform X3
XM_054364204.1 → XP_054220179.1 mediator of RNA polymerase II transcription subunit 27 isoform X2