TAPT1
entrez
202018
canonical
uniprot
Q6NXT6
canonical
ensembl
ENSG00000169762
resolver
ensp
ENSP00000385347
resolver
ensp
ENSP00000550987
resolver
ensp
ENSP00000693228
resolver
genesymbol
TAPT1
resolver
genesymbol_syn
CMVFR
resolver
hgnc
HGNC:26887
resolver
uniprot
B4DJJ3
resolver
uniprot
Q8N2S3
resolver
uniprot
Q9NZK9
resolver
uniprot_entry
B4DJJ3_HUMAN
resolver
uniprot_entry
TAPT1_HUMAN
resolver
uniprot_sec
Q8N2S3
resolver
uniprot_sec
Q9NZK9
resolver
amino_acid_sequence
MAGVGDAAAPGEGGGGGVDGPQRDGRGEAEQPGGSGGQGPPPAPQLTETLGFYESDRRRERRRGRTELSLLRFLSAELTRGYFLEHNEAKYTERRERVYTCLRIPRELEKLMVFGIFLCLDAFLYVFTLLPLRVFLALFRLLTLPCYGLRDRRLLQPAQVCDILKGVILVICYFMMHYVDYSMMYHLIRGQSVIKLYIIYNMLEVADRLFSSFGQDILDALYWTATEPKERKRAHIGVIPHFFMAVLYVFLHAILIMVQATTLNVAFNSHNKSLLTIMMSNNFVEIKGSVFKKFEKNNLFQMSNSDIKERFTNYVLLLIVCLRNMEQFSWNPDHLWVLFPDVCMVIASEIAVDIVKHAFITKFNDITADVYSEYRASLAFDLVSSRQKNAYTDYSDSVARRMGFIPLPLAVLLIRVVTSSIKVQGILSYACVILFYFGLISLKVLNSIVLLGKSCQYVKEAKMEEKLSNPPATCTPGKPSSKSQNKCKPSQGLSTEENLSASITKQPIHQKENIIPLLVTSNSDQFLTTPDGDEKDITQDNSELKHRSSKKDLLEIDRFTICGNRID
uniprot
proteins
disease_involvement
DISEASE: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) [MIM:616897]: An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. {ECO:0000269|PubMed:26365339}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity). {ECO:0000250|UniProtKB:A2BIE7, ECO:0000250|UniProtKB:Q4VBD2, ECO:0000269|PubMed:26365339}.; FUNCTION: (Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169. {ECO:0000269|PubMed:10640539}.
uniprot
proteins
mass_dalton
64260
uniprot
proteins
protein_family
TAPT1 family
uniprot
proteins
pubmed
10640539
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26365339
uniprot
proteins
sequence_length
567
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:26365339}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26365339}. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 111..131; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 157..179; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 236..256; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 403..423; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 432..452; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins