LTV1
entrez
84946
canonical
uniprot
Q96GA3
canonical
ensembl
ENSG00000135521
resolver
ensp
ENSP00000356548
resolver
enst
ENST00000367576
resolver
genesymbol
LTV1
resolver
genesymbol_syn
C6orf93
resolver
hgnc
HGNC:21173
resolver
uniprot
Q96JX8
resolver
uniprot_entry
LTV1_HUMAN
resolver
uniprot_sec
Q96JX8
resolver
amino_acid_sequence
MPHRKKKPFIEKKKAVSFHLVHRSQRDPLAADESAPQRVLLPTQKIDNEERRAEQRKYGVFFDDDYDYLQHLKEPSGPSELIPSSTFSAHNRREEKEETLVIPSTGIKLPSSVFASEFEEDVGLLNKAAPVSGPRLDFDPDIVAALDDDFDFDDPDNLLEDDFILQANKATGEEEGMDIQKSENEDDSEWEDVDDEKGDSNDDYDSAGLLSDEDCMSVPGKTHRAIADHLFWSEETKSRFTEYSMTSSVMRRNEQLTLHDERFEKFYEQYDDDEIGALDNAELEGSIQVDSNRLQEVLNDYYKEKAENCVKLNTLEPLEDQDLPMNELDESEEEEMITVVLEEAKEKWDCESICSTYSNLYNHPQLIKYQPKPKQIRISSKTGIPLNVLPKKGLTAKQTERIQMINGSDLPKVSTQPRSKNESKEDKRARKQAIKEERKERRVEKKANKLAFKLEKRRQEKELLNLKKNVEGLKL
uniprot
proteins
disease_involvement
DISEASE: Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) [MIM:620199]: An autosomal recessive disorder characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses. {ECO:0000269|PubMed:34999892}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for ribosome biogenesis. {ECO:0000250|UniProtKB:Q5U3J8}.
uniprot
proteins
mass_dalton
54855
uniprot
proteins
protein_family
LTV1 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
34999892
uniprot
proteins
sequence_length
475
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:34999892}. Note=The protein is expressed in a diffuse cytoplasmic pattern with granular perinuclear accentuation within the basal keratinocytes. {ECO:0000269|PubMed:34999892}.
uniprot
proteins