BZRAP1
entrez
9256
canonical
uniprot
O95153
canonical
ensembl
ENSG00000005379
resolver
ensp
ENSP00000268893
resolver
ensp
ENSP00000345824
resolver
genesymbol
BZRAP1
resolver
genesymbol
TSPOAP1
resolver
genesymbol_syn
BZRAP1
resolver
genesymbol_syn
KIAA0612
resolver
genesymbol_syn
RBP1
resolver
genesymbol_syn
RIMBP1
resolver
hgnc
HGNC:16831
resolver
uniprot
A7E2C5
resolver
uniprot
B2RUT8
resolver
uniprot
B7ZVZ7
resolver
uniprot
O75111
resolver
uniprot
Q8N5W3
resolver
uniprot
X5DQQ3
resolver
uniprot_entry
A7E2C5_HUMAN
resolver
uniprot_entry
B2RUT8_HUMAN
resolver
uniprot_entry
B7ZVZ7_HUMAN
resolver
uniprot_entry
RIMB1_HUMAN
resolver
uniprot_entry
X5DQQ3_HUMAN
resolver
uniprot_sec
O75111
resolver
uniprot_sec
Q8N5W3
resolver
amino_acid_sequence
MEQLTTLPRPGDPGAMEPWALPTWHSWTPGRGGEPSSAAPSIADTPPAALQLQELRSEESSKPKGDGSSRPVGGTDPEGAEACLPSLGQQASSSGPACQRPEDEEVEAFLKAKLNMSFGDRPNLELLRALGELRQRCAILKEENQMLRKSSFPETEEKVRRLKRKNAELAVIAKRLEERARKLQETNLRVVSAPLPRPGTSLELCRKALARQRARDLSETASALLAKDKQIAALQRECRELQARLTLVGKEGPQWLHVRDFDRLLRESQREVLRLQRQIALRNQRETLPLPPSWPPGPALQARAGAPAPGAPGEATPQEDADNLPVILGEPEKEQRVQQLESELSKKRKKCESLEQEARKKQRRCEELELQLRQAQNENARLVEENSRLSGRATEKEQVEWENAELRGQLLGVTQERDSALRKSQGLQSKLESLEQVLKHMREVAQRRQQLEVEHEQARLSLREKQEEVRRLQQAQAEAQREHEGAVQLLESTLDSMQARVRELEEQCRSQTEQFSLLAQELQAFRLHPGPLDLLTSALDCGSLGDCPPPPCCCSIPQPCRGSGPKDLDLPPGSPGRCTPKSSEPAPATLTGVPRRTAKKAESLSNSSHSESIHNSPKSCPTPEVDTASEVEELEADSVSLLPAAPEGSRGGARIQVFLARYSYNPFEGPNENPEAELPLTAGEYIYIYGNMDEDGFFEGELMDGRRGLVPSNFVERVSDDDLLTSLPPELADLSHSSGPELSFLSVGGGGSSSGGQSSVGRSQPRPEEEDAGDELSLSPSPEGLGEPPAVPYPRRLVVLKQLAHSVVLAWEPPPEQVELHGFHICVNGELRQALGPGAPPKAVLENLDLWAGPLHISVQALTSRGSSDPLRCCLAVGARAGVVPSQLRVHRLTATSAEITWVPGNSNLAHAIYLNGEECPPASPSTYWATFCHLRPGTPYQAQVEAQLPPQGPWEPGWERLEQRAATLQFTTLPAGPPDAPLDVQIEPGPSPGILIISWLPVTIDAAGTSNGVRVTGYAIYADGQKIMEVASPTAGSVLVELSQLQLLQVCREVVVRTMSPHGESADSIPAPITPALAPASLPARVSCPSPHPSPEARAPLASASPGPGDPSSPLQHPAPLGTQEPPGAPPASPSREMAKGSHEDPPAPCSQEEAGAAVLGTSEERTASTSTLGEKDPGPAAPSLAKQEAEWTAGEACPASSSTQGARAQQAPNTEMCQGGDPGSGLRPRAEKEDTAELGVHLVNSLVDHGRNSDLSDIQEEEEEEEEEEEEELGSRTCSFQKQVAGNSIRENGAKSQPDPFCETDSDEEILEQILELPLQQFCSKKLFSIPEEEEEEEEDEEEEKSGAGCSSRDPGPPEPALLGLGCDSGQPRRPGQCPLSPESSRAGDCLEDMPGLVGGSSRRRGGGSPEKPPSRRRPPDPREHCSRLLSNNGPQASGRLGPTRERGGLPVIEGPRTGLEASGRGRLGPSRRCSRGRALEPGLASCLSPKCLEISIEYDSEDEQEAGSGGISITSSCYPGDGEAWGTATVGRPRGPPKANSGPKPYPRLPAWEKGEPERRGRSATGRAKEPLSRATETGEARGQDGSGRRGPQKRGVRVLRPSTAELVPARSPSETLAYQHLPVRIFVALFDYDPVSMSPNPDAGEEELPFREGQILKVFGDKDADGFYQGEGGGRTGYIPCNMVAEVAVDSPAGRQQLLQRGYLSPDILLEGSGNGPFVYSTAHTTGPPPKPRRSKKAESEGPAQPCPGPPKLVPSADLKAPHSMVAAFDYNPQESSPNMDVEAELPFRAGDVITVFGGMDDDGFYYGELNGQRGLVPSNFLEGPGPEAGGLDREPRTPQAESQRTRRRRVQC
uniprot
proteins
disease_involvement
DISEASE: Dystonia 22, adult-onset (DYT22AO) [MIM:620456]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22AO is an autosomal recessive form characterized by focal dystonia or tremor and mild cognitive impairment. {ECO:0000269|PubMed:33539324}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Dystonia 22, juvenile-onset (DYT22JO) [MIM:620453]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22JO is an autosomal recessive form characterized by progressive, generalized dystonia associated with intellectual disability, cognitive decline, and cerebellar atrophy. {ECO:0000269|PubMed:33539324}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for synaptic transmission regulation (PubMed:33539324). It probably controls the recruitment of voltage-gated calcium channels to the presynaptic membrane, and modulates neurotransmitter release. {ECO:0000269|PubMed:33539324}.
uniprot
proteins
mass_dalton
200051
uniprot
proteins
protein_family
RIMBP family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23375655
uniprot
proteins
pubmed
33539324
uniprot
proteins
pubmed
9734811
uniprot
proteins
pubmed
9915832
uniprot
proteins
sequence_length
1857
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9915832}. Mitochondrion {ECO:0000269|PubMed:9915832}. Note=Preferentially expressed in the mitochondria in the presence of TSPO.
uniprot
proteins