TMEM260
entrez
54916
canonical
uniprot
Q9NX78
canonical
ensembl
ENSG00000070269
resolver
ensp
ENSP00000261556
resolver
ensp
ENSP00000441934
resolver
genesymbol
TMEM260
resolver
genesymbol_syn
C14orf101
resolver
hgnc
HGNC:20185
resolver
uniprot
A8KAN4
resolver
uniprot
B3KN73
resolver
uniprot
B3KPF5
resolver
uniprot
Q0VAA1
resolver
uniprot
Q86XE1
resolver
uniprot_entry
B3KN73_HUMAN
resolver
uniprot_entry
TM260_HUMAN
resolver
uniprot_sec
A8KAN4
resolver
uniprot_sec
B3KPF5
resolver
uniprot_sec
Q0VAA1
resolver
uniprot_sec
Q86XE1
resolver
amino_acid_sequence
MSPHGDGRGQAQGRAVRVGLRRSGGIRGGVAVFAAVAAVFTFTLPPSVPGGDSGELITAAHELGVAHPPGYPLFTLVAKLAITLFPFGSIAYRVNLLCGLFGAVAASLLFFTVFRLSGSSAGGILAAGVFSFSRLTWQWSIAAEVFSLNNLFVGLLMALTVHFEEAATAKERSKVAKIGAFCCGLSLCNQHTIILYVLCIIPWILFQLLKKKELSLGSLLKLSLYFSAGLLPYVHLPISSYLNHARWTWGDQTTLQGFLTHFLREEYGTFSLAKSEIGSSMSEILLSQVTNMRTELSFNIQALAVCANICLATKDRQNPSLVWLFTGMFCIYSLFFAWRANLDISKPLFMGVVERFWMQSNAVVAVLAGIGLAAVVSETNRVLNSNGLQCLEWLSATLFVVYQIYSNYSVCDQRTNYVIDKFAKNLLTSMPHDAIILLRGDLPGNSLRYMHYCEGLRPDISLVDQEMMTYEWYLPKMAKHLPGVNFPGNRWNPVEGILPSGMVTFNLYHFLEVNKQKETFVCIGIHEGDPTWKKNYSLWPWGSCDKLVPLEIVFNPEEWIKLTKSIYNWTEEYGRFDPSSWESVANEEMWQARMKTPFFIFNLAETAHMPSKVKAQLYAQAYDLYKEIVYLQKEHPVNWHKNYAIACERMLRLQARDADPEVLLSETIRHFRLYSQKAPNDPQQADILGALKHLRKELQSLRNRKNV
uniprot
proteins
disease_involvement
DISEASE: Structural heart defects and renal anomalies syndrome (SHDRA) [MIM:617478]: An autosomal recessive syndrome characterized by central nervous system, cardiac, renal, and digit abnormalities. Clinical features include ventricular and atrial septal defects, truncus arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous return, renal cysts, renal failure, and generalized edema. Some patients show partial agenesis of corpus callosum. {ECO:0000269|PubMed:28318500, ECO:0000269|PubMed:34612517, ECO:0000269|PubMed:37186866}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.109
uniprot
proteins
function
FUNCTION: O-mannosyl-transferase that transfers mannosyl residues to the hydroxyl group of serine or threonine residues of proteins (PubMed:37186866). Specifically glycosylates the IPT/TIG domain of target proteins, such as MET and MST1R/RON (PubMed:37186866). TMEM260-mediated O-mannosylated residues are composed of single mannose glycans that are not elongated or modified (PubMed:37186866). {ECO:0000269|PubMed:37186866}.
uniprot
proteins
mass_dalton
79536
uniprot
proteins
mutagenesis
MUTAGEN 52; /note="D->A: Abolished O-mannosyltransferase activity."; /evidence="ECO:0000269|PubMed:37186866
uniprot
proteins
protein_family
Glycosyltransferase 117 (GT117) family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
28318500
uniprot
proteins
pubmed
34612517
uniprot
proteins
pubmed
37186866
uniprot
proteins
sequence_length
707
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:37186866}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform 3]: Membrane {ECO:0000269|PubMed:28318500}. Note=Shows perinuclear localization. {ECO:0000269|PubMed:28318500}.
uniprot
proteins
transmembrane_region
TRANSMEM 28..48; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 71..91; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 94..114; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 141..161; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 222..242; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 318..338; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 356..376; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins