TENT5A
entrez
55603
canonical
uniprot
Q96IP4
canonical
ensembl
ENSG00000112773
resolver
ensp
ENSP00000318298
resolver
genesymbol
TENT5A
resolver
genesymbol_syn
C6orf37
resolver
genesymbol_syn
FAM46A
resolver
genesymbol_syn
XTP11
resolver
hgnc
HGNC:18345
resolver
uniprot
A8K7U4
resolver
uniprot
Q5TF86
resolver
uniprot
Q8NFZ9
resolver
uniprot
Q9BW32
resolver
uniprot
Q9NXV5
resolver
uniprot_entry
TET5A_HUMAN
resolver
uniprot_sec
A8K7U4
resolver
uniprot_sec
Q5TF86
resolver
uniprot_sec
Q8NFZ9
resolver
uniprot_sec
Q9BW32
resolver
uniprot_sec
Q9NXV5
resolver
amino_acid_sequence
MAEGEGYFAMSEDELACSPYIPLGGDFGGGDFGGGDFGGGDFGGGGSFGGHCLDYCESPTAHCNVLNWEQVQRLDGILSETIPIHGRGNFPTLELQPSLIVKVVRRRLAEKRIGVRDVRLNGSAASHVLHQDSGLGYKDLDLIFCADLRGEGEFQTVKDVVLDCLLDFLPEGVNKEKITPLTLKEAYVQKMVKVCNDSDRWSLISLSNNSGKNVELKFVDSLRRQFEFSVDSFQIKLDSLLLFYECSENPMTETFHPTIIGESVYGDFQEAFDHLCNKIIATRNPEEIRGGGLLKYCNLLVRGFRPASDEIKTLQRYMCSRFFIDFSDIGEQQRKLESYLQNHFVGLEDRKYEYLMTLHGVVNESTVCLMGHERRQTLNLITMLAIRVLADQNVIPNVANVTCYYQPAPYVADANFSNYYIAQVQPVFTCQQQTYSTWLPCN
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 18 (OI18) [MIM:617952]: An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI18 is a severe form characterized by congenital bowing of the lower limb, wormian bones, blue sclerae, vertebral collapses and multiple fractures in the first years of life. {ECO:0000269|PubMed:29358272}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.19
uniprot
proteins
function
FUNCTION: Cytoplasmic non-canonical poly(A) RNA polymerase that catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3'-OH terminal group and participates in the cytoplasmic polyadenylation (PubMed:33882302). Polyadenylates mRNA encoding extracellular matrix constituents and other genes crucial for bone mineralization and during osteoblast mineralization, mainly focuses on ER-targeted mRNAs (By similarity). {ECO:0000250|UniProtKB:D3Z5S8, ECO:0000269|PubMed:33882302}.
uniprot
proteins
mass_dalton
49666
uniprot
proteins
mutagenesis
MUTAGEN 139; /note="D->N: Does not elongate poly(A) tail; when associated with N-141."; /evidence="ECO:0000269|PubMed:33882302"; MUTAGEN 141; /note="D->N: Does not elongate poly(A) tail; when associated with N-139."; /evidence="ECO:0000269|PubMed:33882302
uniprot
proteins
protein_family
TENT family
uniprot
proteins
pubmed
12054608
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16545789
uniprot
proteins
pubmed
29358272
uniprot
proteins
pubmed
33882302
uniprot
proteins
sequence_length
442
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:D3Z5S8}.
uniprot
proteins