TBC1D32
entrez
221322
canonical
uniprot
Q96NH3
canonical
ensembl
ENSG00000146350
resolver
ensp
ENSP00000275159
resolver
ensp
ENSP00000381270
resolver
ensp
ENSP00000593924
resolver
ensp
ENSP00000634025
resolver
ensp
ENSP00000634027
resolver
ensp
ENSP00000634028
resolver
genesymbol
TBC1D32
resolver
genesymbol_syn
BROMI
resolver
genesymbol_syn
C6orf170
resolver
genesymbol_syn
C6orf171
resolver
hgnc
HGNC:21485
resolver
uniprot
Q5SZD6
resolver
uniprot
Q5SZM6
resolver
uniprot
Q6ZMY4
resolver
uniprot
Q6ZUR7
resolver
uniprot
Q8NB47
resolver
uniprot_entry
BROMI_HUMAN
resolver
uniprot_sec
Q5SZD6
resolver
uniprot_sec
Q5SZM6
resolver
uniprot_sec
Q6ZMY4
resolver
uniprot_sec
Q6ZUR7
resolver
uniprot_sec
Q8NB47
resolver
amino_acid_sequence
MAHFSSEDQAMLQAMLRRLFQSVKEKITGAPSLECAEEILLHLEETDENFHNYEFVKYLRQHIGNTLGSMIEEEMEKCTSDRNQGEECGYDTVVQQVTKRTQESKEYKEMMHYLKNIMIAVVESMINKFEEDETRNQERQKKIQKEKSHSYRTDNCSDSDSSLNQSYKFCQGKLQLILDQLDPGQPKEVRYEALQTLCSAPPSDVLNCENWTTLCEKLTVSLSDPDPVFSDRILKFCAQTFLLSPLHMTKEIYTSLAKYLESYFLSRENHIPTLSAGVDITNPNMTRLLKKVRLLNEYQKEAPSFWIRHPEKYMEEIVESTLSLLTVKHNQSHVVSQKILDPIYFFALVDTKAVWFKKWMHAHYSRTTVLRLLETKYKSLVTTAIQQCVQYFEMCKTRKADETLGHSKHCRNKQKTFYYLGQELQYIYFIHSLCLLGRLLIYKQGRKLFPIKLKNKKGLVSLIDLLVLFTQLIYYSPSCPKMTSAAHSENYSPASMVTEVLWILSDQKECAVECLYNNIVIETLLQPIHNLMKGNEASPNCSETALIHIAGILARIASVEEGLILLLYGANMNSSEESPTGAHIIAQFSKKLLDEDISIFSGSEMLPVVKGAFISVCRHIYSTCEGLQVLITYNLHESIAKAWKKTSLLSERIPTPVEGSDSVSSVSQESQNIMAWEDNLLDDLLHFAATPKGLLLLQRTGAINECVTFIFNRYAKKLQVSRHKKFGYGVLVTRVASTAAGGIALKKSGFINELITELWSNLEYGRDDVRVTHPRTTPVDPIDRSCQKSFLALVNLLSYPAIYELVRNQDLPNKTEYSLREVPTCVIDIIDRLIILNSEAKIRSLFNYEQSHIFGLRDFIIDGLSVERNHVLVRINLVGGPLERILPPRLLEKSDNPYPWPMFSSYPLPNCYLSDITRNAGIKQDNDLDKLLLCLKISDKQTEWIENCQRQFCKMMKAKPDIISGEALIELLEKFVLHLTESPSECYFPSVEYTATDANVKNESLSSVQQLGIKMTVRYGKFLSLLKDGAENDLTWVLKHCERFLKQQQTSIKSSLLCLQGNYAGHDWFVSSLFMIMLGDKEKTFQFLHQFSRLLTSAFLWLPRLHISSYLPNDTVESGIHPVYFCSTHYIEMLLKAELPLVFSAFHMSGFAPSQICLQWITQCFWNYLDWIEICHYIATCVFLGPDYQVYICIAVFKHLQQDILQHTQTQDLQVFLKEEALHGFRVSDYFEYMEILEQNYRTVLLRDMRNIRLQST
uniprot
proteins
disease_involvement
DISEASE: Orofaciodigital syndrome 9 (OFD9) [MIM:258865]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD9 is an autosomal recessive form characterized by a variable phenotype. Clinical features are midline defects, including abnormal pituitary development that results in variable pituitary hormone deficiencies, facial dysmorphic features including frontal bossing and hypertelorism, and variable eye defects including microphthalmia, coloboma, and retinal dystrophy. Affected individuals manifest variable psychomotor development. {ECO:0000269|PubMed:24285566, ECO:0000269|PubMed:32060556}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 100 (RP100) [MIM:621280]: A form of retinitis pigmentosa, 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. RP100 is an autosomal recessive form characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction. {ECO:0000269|PubMed:37768732}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Alsahan-Harris syndrome (ALHAS) [MIM:621307]: An autosomal recessive syndrome characterized by severe, prenatal features that include holoprosencephaly, anencephaly, ocular defects such as microphthalmia, anophthalmia and cyclopia, and digital anomalies. {ECO:0000269|PubMed:31130284, ECO:0000269|PubMed:32573025, ECO:0000269|PubMed:36826837}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity). {ECO:0000250|UniProtKB:Q3URV1}.
uniprot
proteins
mass_dalton
144756
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
24285566
uniprot
proteins
pubmed
30905400
uniprot
proteins
pubmed
31130284
uniprot
proteins
pubmed
32060556
uniprot
proteins
pubmed
32573025
uniprot
proteins
pubmed
36826837
uniprot
proteins
pubmed
37768732
uniprot
proteins
pubmed
40319332
uniprot
proteins
sequence_length
1257
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3URV1}. Cell projection, cilium {ECO:0000250|UniProtKB:Q3URV1}.
uniprot
proteins