TMTC4
entrez
84899
canonical
uniprot
Q5T4D3
canonical
ensembl
ENSG00000125247
resolver
ensp
ENSP00000343871
resolver
ensp
ENSP00000365408
resolver
ensp
ENSP00000365409
resolver
ensp
ENSP00000531751
resolver
ensp
ENSP00000531753
resolver
ensp
ENSP00000531754
resolver
genesymbol
TMTC4
resolver
hgnc
HGNC:25904
resolver
uniprot
A6NLI7
resolver
uniprot
B7Z666
resolver
uniprot
Q5T4D4
resolver
uniprot
Q5T4D5
resolver
uniprot
Q5T4D6
resolver
uniprot
Q8WV63
resolver
uniprot
Q96SU8
resolver
uniprot_entry
TMTC4_HUMAN
resolver
uniprot_sec
A6NLI7
resolver
uniprot_sec
B7Z666
resolver
uniprot_sec
Q5T4D4
resolver
uniprot_sec
Q5T4D5
resolver
uniprot_sec
Q5T4D6
resolver
uniprot_sec
Q8WV63
resolver
uniprot_sec
Q96SU8
resolver
amino_acid_sequence
MAVLDTDLDHILPSSVLPPFWAKLVVGSVAIVCFARSYDGDFVFDDSEAIVNNKDLQAETPLGDLWHHDFWGSRLSSNTSHKSYRPLTVLTFRINYYLSGGFHPVGFHVVNILLHSGISVLMVDVFSVLFGGLQYTSKGRRLHLAPRASLLAALLFAVHPVHTECVAGVVGRADLLCALFFLLSFLGYCKAFRESNKEGAHSSTFWVLLSIFLGAVAMLCKEQGITVLGLNAVFDILVIGKFNVLEIVQKVLHKDKSLENLGMLRNGGLLFRMTLLTSGGAGMLYVRWRIMGTGPPAFTEVDNPASFADSMLVRAVNYNYYYSLNAWLLLCPWWLCFDWSMGCIPLIKSISDWRVIALAALWFCLIGLICQALCSEDGHKRRILTLGLGFLVIPFLPASNLFFRVGFVVAERVLYLPSVGYCVLLTFGFGALSKHTKKKKLIAAVVLGILFINTLRCVLRSGEWRSEEQLFRSALSVCPLNAKVHYNIGKNLADKGNQTAAIRYYREAVRLNPKYVHAMNNLGNILKERNELQEAEELLSLAVQIQPDFAAAWMNLGIVQNSLKRFEAAEQSYRTAIKHRRKYPDCYYNLGRLYADLNRHVDALNAWRNATVLKPEHSLAWNNMIILLDNTGNLAQAEAVGREALELIPNDHSLMFSLANVLGKSQKYKESEALFLKAIKANPNAASYHGNLAVLYHRWGHLDLAKKHYEISLQLDPTASGTKENYGLLRRKLELMQKKAV
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 122 (DFNB122) [MIM:620714]: A form of non-syndromic deafness characterized by adult-onset progressive, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:37943620}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.109
uniprot
proteins
function
FUNCTION: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3. {ECO:0000269|PubMed:28973932}.
uniprot
proteins
mass_dalton
82991
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:28973932}.
uniprot
proteins
protein_family
TMTC family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
28973932
uniprot
proteins
pubmed
37943620
uniprot
proteins
sequence_length
741
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 15..35; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 112..132; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 142..162; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 166..186; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 199..219; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 225..245; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 269..288; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 355..375; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 383..403; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 413..433; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 441..461; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins