HEATR3
entrez
55027
canonical
uniprot
Q7Z4Q2
canonical
ensembl
ENSG00000155393
resolver
ensp
ENSP00000299192
resolver
genesymbol
HEATR3
resolver
hgnc
HGNC:26087
resolver
uniprot
A8K1N4
resolver
uniprot
Q8N525
resolver
uniprot
Q8WV56
resolver
uniprot
Q96CC9
resolver
uniprot
Q9NWN7
resolver
uniprot_entry
HEAT3_HUMAN
resolver
uniprot_sec
A8K1N4
resolver
uniprot_sec
Q8N525
resolver
uniprot_sec
Q8WV56
resolver
uniprot_sec
Q96CC9
resolver
uniprot_sec
Q9NWN7
resolver
amino_acid_sequence
MGKSRTKRFKRPQFSPTGDCQAEAAAAANGTGGEEDDGPAAELLEKLQHPSAEVRECACAGLARLVQQRPALPGLARRDAVRRLGPLLLDPSLAVRETAAGALRNLSACGGFEVCDDMVTKDIMTPLVALLKECSAGLDSNEMSLQEKKDQNRNSIENIANETVNVLWNICECSSRAVSIFNKEGCLEIVLKYLSRFPTNVDLAISVAYCLQTVTEDNPELLKSFSATALNMLESALLSPVSSMESLLLKTLVAGTIWNLKDIIPCKSQAEIINALLKILSEVLGMDAGEMVIQMKEAETQRLKTAAEAEEILENTNGDDLIEDDEMEGISHKRRVRRKTFVSDLLPPTDKELRETIALLTAQQTALEIIVNMCCNEDPSDDEWEELSSSDESDAFMENSFSECGGQLFSPLCLSHEVHTALTNYLIPKKIFEKTAFPNSIAVDLCSRNPTWKPLIRKMNTIQCRALFCLQSLVSLLDVEHLGGAAALQTLAQHLSQLLFSQPDFAKHVDFLEAISSALRALLQTMASKNISQCMTPDQLMTLCKAGIHSSNVGVRVNVVSILGITGSVLAKEDGTLETLKNIGCFLLEVTTKDPSLVVAGEALDALFDVFADGKEAERASIQIKLLSALKEFQPVFKMKIRKEGRGNYSTDQLCVLDNVKMNLRRFIAYQETVEKRLTS
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 21 (DBA21) [MIM:620072]: An autosomal recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA21 patients manifest bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. {ECO:0000269|PubMed:35213692}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in ribosome biogenesis and in nuclear import of the 60S ribosomal protein L5/large ribosomal subunit protein uL18 (RPL5) (PubMed:35213692). Required for proper erythrocyte maturation (PubMed:35213692). {ECO:0000269|PubMed:35213692}.
uniprot
proteins
mass_dalton
74583
uniprot
proteins
protein_family
Nuclear import and ribosome assembly adapter family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
35213692
uniprot
proteins
pubmed
37291423
uniprot
proteins
sequence_length
680
uniprot
proteins