TTC8
entrez
123016
canonical
uniprot
Q8TAM2
canonical
ensembl
ENSG00000165533
resolver
ensp
ENSP00000298324
resolver
ensp
ENSP00000337653
resolver
ensp
ENSP00000370031
resolver
ensp
ENSP00000451034
resolver
ensp
ENSP00000452354
resolver
ensp
ENSP00000482721
resolver
ensp
ENSP00000551412
resolver
ensp
ENSP00000551414
resolver
ensp
ENSP00000641832
resolver
enst
ENST00000338104
resolver
enst
ENST00000346301
resolver
enst
ENST00000556077
resolver
enst
ENST00000622513
resolver
genesymbol
TTC8
resolver
genesymbol_syn
BBS8
resolver
hgnc
HGNC:20087
resolver
uniprot
A0A0C4DGH8
resolver
uniprot
A0A0C4DGX9
resolver
uniprot
A0A0C4DGY3
resolver
uniprot
A0A0S2Z5V1
resolver
uniprot
A0A0S2Z603
resolver
uniprot
A6NFG2
resolver
uniprot
B3KSL8
resolver
uniprot
B3KWA5
resolver
uniprot
G3V343
resolver
uniprot
Q67B97
resolver
uniprot
Q86SY0
resolver
uniprot
Q86TV9
resolver
uniprot
Q86U25
resolver
uniprot
Q86U26
resolver
uniprot
Q8NDH9
resolver
uniprot
Q96DG8
resolver
uniprot_entry
A0A0C4DGH8_HUMAN
resolver
uniprot_entry
A0A0C4DGX9_HUMAN
resolver
uniprot_entry
A0A0C4DGY3_HUMAN
resolver
uniprot_entry
A0A0S2Z5V1_HUMAN
resolver
uniprot_entry
A0A0S2Z603_HUMAN
resolver
uniprot_entry
B3KSL8_HUMAN
resolver
uniprot_entry
G3V343_HUMAN
resolver
uniprot_entry
Q86U25_HUMAN
resolver
uniprot_entry
TTC8_HUMAN
resolver
uniprot_sec
A6NFG2
resolver
uniprot_sec
B3KWA5
resolver
uniprot_sec
Q67B97
resolver
uniprot_sec
Q86SY0
resolver
uniprot_sec
Q86TV9
resolver
uniprot_sec
Q86U26
resolver
uniprot_sec
Q8NDH9
resolver
uniprot_sec
Q96DG8
resolver
amino_acid_sequence
MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQEPDPELPVHQAAWILKARALTEMVYIDEIDVDQEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPITQAGRPITGFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTASMLTSPDGPFINLSRLNLTKYSQKPKLAKALFEYIFHHENDVKTIHLEDVVLHLGIYPFLLRNKNHIEKNALDLAALSTEHSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQPVTALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGSNHFYSDQPEIALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEEEAADVWYNLGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALLQTASSLAPHMYEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAML
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 51 (RP51) [MIM:613464]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:14520415, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:20451172, ECO:0000269|Ref.2, ECO:0000269|Ref.3, ECO:0000269|Ref.7}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bardet-Biedl syndrome 8 (BBS8) [MIM:615985]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:14520415, ECO:0000269|PubMed:16308660}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
uniprot
proteins
mass_dalton
61534
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14520415
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16308660
uniprot
proteins
pubmed
16327777
uniprot
proteins
pubmed
17574030
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20451172
uniprot
proteins
pubmed
22072986
uniprot
proteins
pubmed
24939912
uniprot
proteins
sequence_length
541
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17574030}. Cell projection, cilium membrane {ECO:0000269|PubMed:17574030}. Cytoplasm {ECO:0000269|PubMed:22072986}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:17574030}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8VD72}.
uniprot
proteins