1. Gene
  2. MED17 - mediator complex subunit 17 Gene

MED17 - mediator complex subunit 17 Gene

Homo sapiens

Also known as SRB4; CRSP6; CRSP77; DRIP80; TRAP80

Gene ID: 9440 | Gene type: protein coding

About MED17

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:93,784,282-93,814,963 (from NCBI)

This gene has 29 transcripts (splice variants), 206 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 8.7), ovary (RPKM 8.2) and 25 other tissues.

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. [provided by RefSeq, Jul 2008]

MED17 Products(1)

mRNA Protein Name
NM_004268.5 NP_004259.3 mediator of RNA polymerase II transcription subunit 17
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables nuclear receptor coactivator activity IDA
IDA: Inferred from direct assay
12218053 GOA
enables nuclear thyroid hormone receptor binding IDA
IDA: Inferred from direct assay
10198638 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12584197 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
12037571 GOA
enables transcription coregulator activity IDA
IDA: Inferred from direct assay
10198638 GOA
Cellular Component GO Annotation Evidence Reference Source
part of core mediator complex IPI
IPI: Inferred from physical interaction
24882805 GOA
part of mediator complex IDA
IDA: Inferred from direct assay
10198638 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10235267 GOA
part of transcription regulator complex IDA
IDA: Inferred from direct assay
9989412 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MED17 Protein Structure

Med17

Med17: Subunit 17 of Mediator complex (9 - 459)

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  • 651 a.a.
Protein Preferred Names Protein Names

mediator of RNA polymerase II transcription subunit 17

ARC77

Related Diseases

Diseases Alias
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy

Infantile Cerebral And Cerebellar Atrophy With Postnatal Progressive Microcephaly

Postnatal Progressive Microcephaly, Seizures, And Brain Atrophy

MCPHSBA

Mucinous Adenofibroma
Palindromic Rheumatism

Hench'S Syndrome

Hench-Rosenberg Syndrome

Palindromic Rheumatism Syndrome

Palindromic Arthritis

Microcephaly, Seizures, And Developmental Delay

MCSZ

Developmental And Epileptic Encephalopathy 10

Epileptic Encephalopathy, Early Infantile, 10

Eiee10

Dee10

Early Infantile Epileptic Encephalopathy 10

Hermansky-Pudlak Syndrome 3

HPS3

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 3

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Opitz-Kaveggia Syndrome

Fg Syndrome

Fgs1

Fgs

Keller Syndrome

OKS

Fg Syndrome 1

Fg Syndrome Type 1

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus MED17 MGD MGI:2182585
Canis familiaris MED17 VGNC VGNC:52266
Rattus norvegicus MED17 RGD RGD:1311120
Felis catus MED17 VGNC VGNC:103133
Bos taurus MED17 VGNC VGNC:56273