DAP3
entrez
7818
canonical
uniprot
P51398
canonical
ensembl
ENSG00000132676
resolver
ensp
ENSP00000341692
resolver
ensp
ENSP00000357320
resolver
ensp
ENSP00000412605
resolver
ensp
ENSP00000445003
resolver
ensp
ENSP00000476592
resolver
ensp
ENSP00000548880
resolver
ensp
ENSP00000548882
resolver
ensp
ENSP00000548887
resolver
ensp
ENSP00000548888
resolver
ensp
ENSP00000548891
resolver
ensp
ENSP00000548909
resolver
ensp
ENSP00000589585
resolver
ensp
ENSP00000642581
resolver
ensp
ENSP00000642583
resolver
genesymbol
DAP3
resolver
genesymbol_syn
MRPS29
resolver
hgnc
HGNC:2673
resolver
uniprot
B4DP59
resolver
uniprot
B4DY62
resolver
uniprot
E7EM60
resolver
uniprot
Q13044
resolver
uniprot
Q68CT7
resolver
uniprot
Q96Q20
resolver
uniprot_entry
RT29_HUMAN
resolver
uniprot_sec
B4DP59
resolver
uniprot_sec
B4DY62
resolver
uniprot_sec
E7EM60
resolver
uniprot_sec
Q13044
resolver
uniprot_sec
Q68CT7
resolver
uniprot_sec
Q96Q20
resolver
amino_acid_sequence
MMLKGITRLISRIHKLDPGRFLHMGTQARQSIAAHLDNQVPVESPRAISRTNENDPAKHGDQHEGQHYNISPQDLETVFPHGLPPRFVMQVKTFSEACLMVRKPALELLHYLKNTSFAYPAIRYLLYGEKGTGKTLSLCHVIHFCAKQDWLILHIPDAHLWVKNCRDLLQSSYNKQRFDQPLEASTWLKNFKTTNERFLNQIKVQEKYVWNKRESTEKGSPLGEVVEQGITRVRNATDAVGIVLKELKRQSSLGMFHLLVAVDGINALWGRTTLKREDKSPIAPEELALVHNLRKMMKNDWHGGAIVSALSQTGSLFKPRKAYLPQELLGKEGFDALDPFIPILVSNYNPKEFESCIQYYLENNWLQHEKAPTEEGKKELLFLSNANPSLLERHCAYL
uniprot
proteins
disease_involvement
DISEASE: Perrault syndrome 7 (PRLTS7) [MIM:621101]: A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. PRLTS7 inheritance is autosomal recessive. Some affected individuals present with neurologic features. {ECO:0000269|PubMed:39701103}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: As a component of the mitochondrial small ribosomal subunit, it plays a role in the translation of mitochondrial mRNAs (PubMed:39701103). Involved in mediating interferon-gamma-induced cell death (PubMed:7499268). Displays GTPase activity in vitro (PubMed:39701103). {ECO:0000269|PubMed:39701103, ECO:0000269|PubMed:7499268}.
uniprot
proteins
mass_dalton
45566
uniprot
proteins
protein_family
Mitochondrion-specific ribosomal protein mS29 family
uniprot
proteins
pubmed
11162496
uniprot
proteins
pubmed
11279123
uniprot
proteins
pubmed
11543634
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19103604
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20563667
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
39701103
uniprot
proteins
pubmed
7499268
uniprot
proteins
sequence_length
398
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11162496, ECO:0000269|PubMed:20563667}.
uniprot
proteins