IREB2
entrez
3658
canonical
uniprot
P48200
canonical
ensembl
ENSG00000136381
resolver
ensp
ENSP00000258886
resolver
ensp
ENSP00000452938
resolver
genesymbol
IREB2
resolver
hgnc
HGNC:6115
resolver
uniprot
A0A0A6YY96
resolver
uniprot
A8KAC7
resolver
uniprot
E1CJT9
resolver
uniprot
H0YKU0
resolver
uniprot
Q13095
resolver
uniprot
Q1HE21
resolver
uniprot
Q59FQ7
resolver
uniprot
Q8WVK6
resolver
uniprot
Q9UF17
resolver
uniprot_entry
IREB2_HUMAN
resolver
uniprot_sec
A0A0A6YY96
resolver
uniprot_sec
A8KAC7
resolver
uniprot_sec
E1CJT9
resolver
uniprot_sec
H0YKU0
resolver
uniprot_sec
Q13095
resolver
uniprot_sec
Q1HE21
resolver
uniprot_sec
Q59FQ7
resolver
uniprot_sec
Q8WVK6
resolver
uniprot_sec
Q9UF17
resolver
amino_acid_sequence
MDAPKAGYAFEYLIETLNDSSHKKFFDVSKLGTKYDVLPYSIRVLLEAAVRNCDGFLMKKEDVMNILDWKTKQSNVEVPFFPARVLLQDFTGIPAMVDFAAMREAVKTLGGDPEKVHPACPTDLTVDHSLQIDFSKCAIQNAPNPGGGDLQKAGKLSPLKVQPKKLPCRGQTTCRGSCDSGELGRNSGTFSSQIENTPILCPFHLQPVPEPETVLKNQEVEFGRNRERLQFFKWSSRVFKNVAVIPPGTGMAHQINLEYLSRVVFEEKDLLFPDSVVGTDSHITMVNGLGILGWGVGGIETEAVMLGLPVSLTLPEVVGCELTGSSNPFVTSIDVVLGITKHLRQVGVAGKFVEFFGSGVSQLSIVDRTTIANMCPEYGAILSFFPVDNVTLKHLEHTGFSKAKLESMETYLKAVKLFRNDQNSSGEPEYSQVIQINLNSIVPSVSGPKRPQDRVAVTDMKSDFQACLNEKVGFKGFQIAAEKQKDIVSIHYEGSEYKLSHGSVVIAAVISCTNNCNPSVMLAAGLLAKKAVEAGLRVKPYIRTSLSPGSGMVTHYLSSSGVLPYLSKLGFEIVGYGCSICVGNTAPLSDAVLNAVKQGDLVTCGILSGNKNFEGRLCDCVRANYLASPPLVVAYAIAGTVNIDFQTEPLGTDPTGKNIYLHDIWPSREEVHRVEEEHVILSMFKALKDKIEMGNKRWNSLEAPDSVLFPWDLKSTYIRCPSFFDKLTKEPIALQAIENAHVLLYLGDSVTTDHISPAGSIARNSAAAKYLTNRGLTPREFNSYGARRGNDAVMTRGTFANIKLFNKFIGKPAPKTIHFPSGQTLDVFEAAELYQKEGIPLIILAGKKYGSGNSRDWAAKGPYLLGVKAVLAESYEKIHKDHLIGIGIAPLQFLPGENADSLGLSGRETFSLTFPEELSPGITLNIQTSTGKVFSVIASFEDDVEITLYKHGGLLNFVARKFS
uniprot
proteins
disease_involvement
DISEASE: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia (NDCAMA) [MIM:618451]: An autosomal recessive disorder characterized by severe neurological and extra-neurological manifestations. Clinical features include early-onset global developmental delay, absent speech, dystonia, spasticity, choreoathetoid movement disorder, seizures, and microcytic hypochromic anaemia unresponsive to iron supplementation. {ECO:0000269|PubMed:30915432}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'-UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA. {ECO:0000269|PubMed:7983023}.
uniprot
proteins
mass_dalton
105059
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated and degraded by the proteasome in presence of high level of iron and oxygen. Ubiquitinated by a SCF complex containing FBXL5. Upon iron and oxygen depletion FBXL5 is degraded, preventing ubiquitination and allowing its RNA-binding activity. {ECO:0000269|PubMed:12629548, ECO:0000269|PubMed:19762596, ECO:0000269|PubMed:19762597}.
uniprot
proteins
protein_family
Aconitase/IPM isomerase family
uniprot
proteins
pubmed
12629548
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19762596
uniprot
proteins
pubmed
19762597
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2172968
uniprot
proteins
pubmed
23891004
uniprot
proteins
pubmed
30915432
uniprot
proteins
pubmed
7622457
uniprot
proteins
pubmed
7983023
uniprot
proteins
sequence_length
963
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins