PRDM5
entrez
11107
canonical
uniprot
Q9NQX1
canonical
ensembl
ENSG00000138738
resolver
ensp
ENSP00000264808
resolver
ensp
ENSP00000404832
resolver
ensp
ENSP00000422309
resolver
ensp
ENSP00000568097
resolver
ensp
ENSP00000610520
resolver
ensp
ENSP00000610521
resolver
ensp
ENSP00000610522
resolver
ensp
ENSP00000709645
resolver
ensp
ENSP00000781831
resolver
ensp
ENSP00000781832
resolver
genesymbol
PRDM5
resolver
genesymbol_syn
PFM2
resolver
hgnc
HGNC:9349
resolver
uniprot
Q0VAI9
resolver
uniprot
Q0VAJ0
resolver
uniprot
Q6NXQ7
resolver
uniprot_entry
PRDM5_HUMAN
resolver
uniprot_sec
Q0VAI9
resolver
uniprot_sec
Q0VAJ0
resolver
uniprot_sec
Q6NXQ7
resolver
amino_acid_sequence
MLGMYVPDRFSLKSSRVQDGMGLYTARRVRKGEKFGPFAGEKRMPEDLDENMDYRLMWEVRGSKGEVLYILDATNPRHSNWLRFVHEAPSQEQKNLAAIQEGENIFYLAVEDIETDTELLIGYLDSDMEAEEEEQQIMTVIKEGEVENSRRQSTAGRKDRLGCKEDYACPQCESSFTSEDILAEHLQTLHQKPTEEKEFKCKNCGKKFPVKQALQRHVLQCTAKSSLKESSRSFQCSVCNSSFSSASSFEQHQETCRGDARFVCKADSCGKRLKSKDALKRHQENVHTGDPKKKLICSVCNKKCSSASSLQEHRKIHEIFDCQECMKKFISANQLKRHMITHSEKRPYNCEICNKSFKRLDQVGAHKVIHSEDKPYKCKLCGKGFAHRNVYKNHKKTHSEERPFQCEECKALFRTPFSLQRHLLIHNSERTFKCHHCDATFKRKDTLNVHVQVVHERHKKYRCELCNKAFVTPSVLRSHKKTHTGEKEKICPYCGQKFASSGTLRVHIRSHTGERPYQCPYCEKGFSKNDGLKMHIRTHTREKPYKCSECSKAFSQKRGLDEHKRTHTGEKPFQCDVCDLAFSLKKMLIRHKMTHNPNRPLAECQFCHKKFTRNDYLKVHMDNIHGVADS
uniprot
proteins
disease_involvement
DISEASE: Brittle cornea syndrome 2 (BCS2) [MIM:614170]: A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. {ECO:0000269|PubMed:21664999}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. May cause G2/M arrest and apoptosis in cancer cells. {ECO:0000269|PubMed:15077163, ECO:0000269|PubMed:17636019, ECO:0000269|PubMed:21664999}.
uniprot
proteins
mass_dalton
73090
uniprot
proteins
protein_family
Class V-like SAM-binding methyltransferase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15077163
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17636019
uniprot
proteins
pubmed
17699856
uniprot
proteins
pubmed
21664999
uniprot
proteins
sequence_length
630
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15077163, ECO:0000269|PubMed:17636019}.
uniprot
proteins