B9D1
entrez
27077
canonical
uniprot
Q9UPM9
canonical
ensembl
ENSG00000108641
resolver
ensp
ENSP00000261499
resolver
ensp
ENSP00000268841
resolver
ensp
ENSP00000378978
resolver
ensp
ENSP00000410835
resolver
ensp
ENSP00000433359
resolver
ensp
ENSP00000463165
resolver
ensp
ENSP00000495045
resolver
ensp
ENSP00000501817
resolver
ensp
ENSP00000665101
resolver
enst
ENST00000395616
resolver
enst
ENST00000461069
resolver
enst
ENST00000582857
resolver
enst
ENST00000647252
resolver
enst
ENST00000675510
resolver
genesymbol
B9D1
resolver
genesymbol_syn
MKSR1
resolver
hgnc
HGNC:24123
resolver
uniprot
A0A0B4J223
resolver
uniprot
A0A2R8Y646
resolver
uniprot
A0A6Q8PFJ7
resolver
uniprot
A8MYG7
resolver
uniprot
B4DEW0
resolver
uniprot
J3QKN6
resolver
uniprot
Q9BU22
resolver
uniprot_entry
A0A0B4J223_HUMAN
resolver
uniprot_entry
A0A2R8Y646_HUMAN
resolver
uniprot_entry
A0A6Q8PFJ7_HUMAN
resolver
uniprot_entry
A8MYG7_HUMAN
resolver
uniprot_entry
B4DEW0_HUMAN
resolver
uniprot_entry
B9D1_HUMAN
resolver
uniprot_entry
J3QKN6_HUMAN
resolver
uniprot_sec
Q9BU22
resolver
amino_acid_sequence
MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQITSKSQDVRQALVWNFPIDVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRGYGAVHVPFSPGRHKRTIPMFVPESTSKLQKFTSWFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTKDMRKLGYDTGPSDTQGVLGPSPPQSFPQ
uniprot
proteins
disease_involvement
DISEASE: Meckel syndrome 9 (MKS9) [MIM:614209]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:21493627}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Joubert syndrome 27 (JBTS27) [MIM:617120]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS27 inheritance is autosomal recessive. {ECO:0000269|PubMed:24886560}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
22775
uniprot
proteins
protein_family
B9D family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19208769
uniprot
proteins
pubmed
21493627
uniprot
proteins
pubmed
24886560
uniprot
proteins
pubmed
26477546
uniprot
proteins
sequence_length
204
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:19208769}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:19208769}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.
uniprot
proteins