TUFT1
entrez
7286
canonical
uniprot
Q9NNX1
canonical
ensembl
ENSG00000143367
resolver
ensp
ENSP00000357841
resolver
ensp
ENSP00000357842
resolver
ensp
ENSP00000543733
resolver
genesymbol
TUFT1
resolver
hgnc
HGNC:12422
resolver
uniprot
B2RD57
resolver
uniprot
B7Z4Y1
resolver
uniprot
D3DV21
resolver
uniprot
D3DV22
resolver
uniprot
Q5T384
resolver
uniprot
Q5T385
resolver
uniprot
Q9BU28
resolver
uniprot
Q9H5L1
resolver
uniprot_entry
B7Z4Y1_HUMAN
resolver
uniprot_entry
TUFT1_HUMAN
resolver
uniprot_sec
B2RD57
resolver
uniprot_sec
D3DV21
resolver
uniprot_sec
D3DV22
resolver
uniprot_sec
Q5T384
resolver
uniprot_sec
Q5T385
resolver
uniprot_sec
Q9BU28
resolver
uniprot_sec
Q9H5L1
resolver
amino_acid_sequence
MNGTRNWCTLVDVHPEDQAAGSVDILRLTLQGELTGDELEHIAQKAGRKTYAMVSSHSAGHSLASELVESHDGHEEIIKVYLKGRSGDKMIHEKNINQLKSEVQYIQEARNCLQKLREDISSKLDRNLGDSLHRQEIQVVLEKPNGFSQSPTALYSSPPEVDTCINEDVESLRKTVQDLLAKLQEAKRQHQSDCVAFEVTLSRYQREAEQSNVALQREEDRVEQKEAEVGELQRRLLGMETEHQALLAKVREGEVALEELRSNNADCQAEREKAATLEKEVAGLREKIHHLDDMLKSQQRKVRQMIEQLQNSKAVIQSKDATIQELKEKIAYLEAENLEMHDRMEHLIEKQISHGNFSTQARAKTENPGSIRISKPPSPKPMPVIRVVET
uniprot
proteins
disease_involvement
DISEASE: Woolly hair-skin fragility syndrome (WHSF) [MIM:620415]: An autosomal recessive genodermatosis characterized by woolly hair texture with slow hair growth, and skin fragility present at birth or appearing in the neonatal period. Skin fragility then resolves or only persists as minor skin peeling, predominantly affecting the palms and soles. {ECO:0000269|PubMed:36689522}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the structural organization of the epidermis (PubMed:36689522). Involved in the mineralization and structural organization of enamel. {ECO:0000250|UniProtKB:P27628, ECO:0000269|PubMed:36689522}.
uniprot
proteins
mass_dalton
44264
uniprot
proteins
protein_family
Tuftelin family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11733143
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
1874744
uniprot
proteins
pubmed
36689522
uniprot
proteins
pubmed
7919663
uniprot
proteins
sequence_length
390
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P27628}. Note=Secreted at a very early stage of enamel formation, concentrated at the dentin-enamel junction and tightly bound to the surface of the growing crystallites. {ECO:0000250|UniProtKB:P27628}.
uniprot
proteins