RIMB1_HUMAN
ID RIMB1_HUMAN Reviewed; 1857 AA.
AC O95153; O75111; Q8N5W3;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=Peripheral-type benzodiazepine receptor-associated protein 1;
DE Short=PRAX-1;
DE AltName: Full=Peripheral benzodiazepine receptor-interacting protein;
DE Short=PBR-IP;
DE AltName: Full=RIMS-binding protein 1;
DE Short=RIM-BP1;
DE AltName: Full=TSPO-associated protein 1 {ECO:0000312|HGNC:HGNC:16831};
GN Name=TSPOAP1 {ECO:0000312|HGNC:HGNC:16831};
GN Synonyms=BZRAP1, KIAA0612, RBP1, RIMBP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND INTERACTION WITH TSPO.
RC TISSUE=Brain;
RX PubMed=9915832; DOI=10.1074/jbc.274.5.2938;
RA Galiegue S., Jbilo O., Combes T., Bribes E., Carayon P., Le Fur G.,
RA Casellas P.;
RT "Cloning and characterization of PRAX-1. A new protein that specifically
RT interacts with the peripheral benzodiazepine receptor.";
RL J. Biol. Chem. 274:2938-2952(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS ARG-817;
RP ARG-851; LEU-1118; PRO-1140 AND ARG-1728.
RC TISSUE=Brain;
RX PubMed=9734811; DOI=10.1093/dnares/5.3.169;
RA Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H.,
RA Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. X. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:169-176(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1737-1857 (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT ARG-652.
RX PubMed=23375655; DOI=10.1016/j.ajhg.2013.01.003;
RA Parry D.A., Poulter J.A., Logan C.V., Brookes S.J., Jafri H.,
RA Ferguson C.H., Anwari B.M., Rashid Y., Zhao H., Johnson C.A.,
RA Inglehearn C.F., Mighell A.J.;
RT "Identification of mutations in SLC24A4, encoding a potassium-dependent
RT sodium/calcium exchanger, as a cause of amelogenesis imperfecta.";
RL Am. J. Hum. Genet. 92:307-312(2013).
CC -!- SUBUNIT: Interacts with RIMS1 and RIMS2 (By similarity). Interacts with
CC TSPO. {ECO:0000250, ECO:0000269|PubMed:9915832}.
CC -!- INTERACTION:
CC O95153; Q9H013: ADAM19; NbExp=2; IntAct=EBI-5915931, EBI-8567699;
CC O95153; P63010: AP2B1; NbExp=2; IntAct=EBI-5915931, EBI-432924;
CC O95153; O00555: CACNA1A; NbExp=2; IntAct=EBI-5915931, EBI-766279;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9915832}.
CC Mitochondrion {ECO:0000269|PubMed:9915832}. Note=Preferentially
CC expressed in the mitochondria in the presence of TSPO.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O95153-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95153-2; Sequence=VSP_009204;
CC Name=3;
CC IsoId=O95153-3; Sequence=VSP_009205;
CC -!- TISSUE SPECIFICITY: Predominantly expressed in brain, pituitary gland
CC and thymus in adults. In adult brain, highest expression found in
CC temporal lobe and the putamen, followed by amygdala, caudate nucleus,
CC cerebral cortex, occipital and frontal lobe. A high expression level is
CC also observed in fetal tissues like brain, heart, kidney and thymus.
CC {ECO:0000269|PubMed:9915832}.
CC -!- DOMAIN: The SH3 and proline-rich domain is required for the interaction
CC with TSPO and the second SH3 domain mediates binding to a proline-rich
CC motif in RIMS1 and RIMS2. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the RIMBP family. {ECO:0000305}.
CC -!- CAUTION: PubMed:9915832 demonstrated interaction with TSPO but later
CC PubMed:12435798 demonstrated in the rat ortholog that is not associated
CC with TSPO in the brain. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA31587.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF039571; AAD11957.1; -; mRNA.
DR EMBL; AB014512; BAA31587.2; ALT_INIT; mRNA.
DR EMBL; BC031401; AAH31401.1; -; mRNA.
DR CCDS; CCDS11605.1; -. [O95153-1]
DR CCDS; CCDS45742.1; -. [O95153-2]
DR PIR; T00391; T00391.
DR RefSeq; NP_001248764.1; NM_001261835.1.
DR RefSeq; NP_004749.2; NM_004758.3. [O95153-1]
DR RefSeq; NP_077729.1; NM_024418.2. [O95153-2]
DR RefSeq; XP_006722236.1; XM_006722173.2.
DR AlphaFoldDB; O95153; -.
DR SMR; O95153; -.
DR BioGRID; 114680; 23.
DR IntAct; O95153; 11.
DR MINT; O95153; -.
DR STRING; 9606.ENSP00000345824; -.
DR BindingDB; O95153; -.
DR TCDB; 8.A.34.3.1; the endophilin (endophilin) family.
DR CarbonylDB; O95153; -.
DR iPTMnet; O95153; -.
DR PhosphoSitePlus; O95153; -.
DR BioMuta; TSPOAP1; -.
DR EPD; O95153; -.
DR jPOST; O95153; -.
DR MassIVE; O95153; -.
DR PaxDb; O95153; -.
DR PeptideAtlas; O95153; -.
DR PRIDE; O95153; -.
DR ProteomicsDB; 50666; -. [O95153-1]
DR ProteomicsDB; 50667; -. [O95153-2]
DR ProteomicsDB; 50668; -. [O95153-3]
DR Antibodypedia; 18369; 25 antibodies from 11 providers.
DR DNASU; 9256; -.
DR Ensembl; ENST00000268893.10; ENSP00000268893.6; ENSG00000005379.17. [O95153-2]
DR Ensembl; ENST00000343736.9; ENSP00000345824.4; ENSG00000005379.17. [O95153-1]
DR GeneID; 9256; -.
DR KEGG; hsa:9256; -.
DR MANE-Select; ENST00000343736.9; ENSP00000345824.4; NM_004758.4; NP_004749.2.
DR UCSC; uc002ivx.6; human. [O95153-1]
DR CTD; 9256; -.
DR DisGeNET; 9256; -.
DR GeneCards; TSPOAP1; -.
DR HGNC; HGNC:16831; TSPOAP1.
DR HPA; ENSG00000005379; Low tissue specificity.
DR MIM; 610764; gene.
DR neXtProt; NX_O95153; -.
DR OpenTargets; ENSG00000005379; -.
DR Orphanet; 101150; Autosomal recessive dopa-responsive dystonia.
DR PharmGKB; PA128394545; -.
DR VEuPathDB; HostDB:ENSG00000005379; -.
DR eggNOG; KOG3632; Eukaryota.
DR GeneTree; ENSGT00950000183203; -.
DR HOGENOM; CLU_001979_1_0_1; -.
DR InParanoid; O95153; -.
DR OMA; CMQARVK; -.
DR OrthoDB; 102427at2759; -.
DR PhylomeDB; O95153; -.
DR TreeFam; TF316230; -.
DR PathwayCommons; O95153; -.
DR Reactome; R-HSA-181429; Serotonin Neurotransmitter Release Cycle.
DR Reactome; R-HSA-181430; Norepinephrine Neurotransmitter Release Cycle.
DR Reactome; R-HSA-196108; Pregnenolone biosynthesis.
DR Reactome; R-HSA-210500; Glutamate Neurotransmitter Release Cycle.
DR Reactome; R-HSA-212676; Dopamine Neurotransmitter Release Cycle.
DR Reactome; R-HSA-264642; Acetylcholine Neurotransmitter Release Cycle.
DR SignaLink; O95153; -.
DR SIGNOR; O95153; -.
DR BioGRID-ORCS; 9256; 15 hits in 1077 CRISPR screens.
DR ChiTaRS; TSPOAP1; human.
DR GenomeRNAi; 9256; -.
DR Pharos; O95153; Tbio.
DR PRO; PR:O95153; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; O95153; protein.
DR Bgee; ENSG00000005379; Expressed in right uterine tube and 175 other tissues.
DR ExpressionAtlas; O95153; baseline and differential.
DR Genevisible; O95153; HS.
DR GO; GO:0044305; C:calyx of Held; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0030156; F:benzodiazepine receptor binding; IPI:UniProtKB.
DR GO; GO:0099626; F:voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels; IEA:Ensembl.
DR CDD; cd00063; FN3; 1.
DR CDD; cd12012; SH3_RIM-BP_2; 1.
DR CDD; cd12013; SH3_RIM-BP_3; 1.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR035753; RIM-BP_SH3_2.
DR InterPro; IPR035755; RIM-BP_SH3_3.
DR InterPro; IPR040325; RIMBP1/2/3.
DR InterPro; IPR036028; SH3-like_dom_sf.
DR InterPro; IPR001452; SH3_domain.
DR PANTHER; PTHR14234; PTHR14234; 1.
DR Pfam; PF07653; SH3_2; 2.
DR Pfam; PF14604; SH3_9; 1.
DR SMART; SM00060; FN3; 3.
DR SMART; SM00326; SH3; 3.
DR SUPFAM; SSF49265; SSF49265; 2.
DR SUPFAM; SSF50044; SSF50044; 3.
DR PROSITE; PS50853; FN3; 3.
DR PROSITE; PS50002; SH3; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Mitochondrion; Reference proteome; Repeat;
KW SH3 domain.
FT CHAIN 1..1857
FT /note="Peripheral-type benzodiazepine receptor-associated
FT protein 1"
FT /id="PRO_0000221380"
FT DOMAIN 653..720
FT /note="SH3 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT DOMAIN 791..882
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 884..976
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 981..1081
FT /note="Fibronectin type-III 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 1625..1693
FT /note="SH3 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT DOMAIN 1764..1831
FT /note="SH3 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT REGION 1..103
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 284..321
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 565..629
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 729..789
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1083..1311
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1330..1479
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1501..1601
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1723..1761
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1823..1857
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 600..623
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 739..763
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1112..1134
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1198..1219
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1259..1275
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1279..1296
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1411..1427
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1554..1570
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1842..1857
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 191..250
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9734811"
FT /id="VSP_009204"
FT VAR_SEQ 1849..1857
FT /note="RTRRRRVQC -> DWGCTTQGSPGPPGGPCTPSSGSAPRIERGEPQGRSEKV
FT WGFFSKGKQLLRRLGSGKKE (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_009205"
FT VARIANT 514
FT /note="Q -> R (in dbSNP:rs2072145)"
FT /id="VAR_017446"
FT VARIANT 586
FT /note="A -> T (in dbSNP:rs2072147)"
FT /id="VAR_017447"
FT VARIANT 652
FT /note="G -> R (in dbSNP:rs373894175)"
FT /evidence="ECO:0000269|PubMed:23375655"
FT /id="VAR_070193"
FT VARIANT 817
FT /note="Q -> R (in dbSNP:rs9913145)"
FT /evidence="ECO:0000269|PubMed:9734811"
FT /id="VAR_031662"
FT VARIANT 851
FT /note="W -> R (in dbSNP:rs9905604)"
FT /evidence="ECO:0000269|PubMed:9734811"
FT /id="VAR_031663"
FT VARIANT 1118
FT /note="H -> L (in dbSNP:rs3744099)"
FT /evidence="ECO:0000269|PubMed:9734811"
FT /id="VAR_017448"
FT VARIANT 1140
FT /note="A -> P (in dbSNP:rs2680704)"
FT /evidence="ECO:0000269|PubMed:9734811"
FT /id="VAR_017449"
FT VARIANT 1253
FT /note="R -> C (in dbSNP:rs3744101)"
FT /id="VAR_017450"
FT VARIANT 1728
FT /note="H -> R (in dbSNP:rs11079346)"
FT /evidence="ECO:0000269|PubMed:9734811"
FT /id="VAR_031664"
FT VARIANT 1830
FT /note="G -> E (in dbSNP:rs2301868)"
FT /id="VAR_017451"
FT CONFLICT 1525
FT /note="G -> R (in Ref. 1; AAD11957)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1857 AA; 200051 MW; 594F850C95F9EE02 CRC64;
MEQLTTLPRP GDPGAMEPWA LPTWHSWTPG RGGEPSSAAP SIADTPPAAL QLQELRSEES
SKPKGDGSSR PVGGTDPEGA EACLPSLGQQ ASSSGPACQR PEDEEVEAFL KAKLNMSFGD
RPNLELLRAL GELRQRCAIL KEENQMLRKS SFPETEEKVR RLKRKNAELA VIAKRLEERA
RKLQETNLRV VSAPLPRPGT SLELCRKALA RQRARDLSET ASALLAKDKQ IAALQRECRE
LQARLTLVGK EGPQWLHVRD FDRLLRESQR EVLRLQRQIA LRNQRETLPL PPSWPPGPAL
QARAGAPAPG APGEATPQED ADNLPVILGE PEKEQRVQQL ESELSKKRKK CESLEQEARK
KQRRCEELEL QLRQAQNENA RLVEENSRLS GRATEKEQVE WENAELRGQL LGVTQERDSA
LRKSQGLQSK LESLEQVLKH MREVAQRRQQ LEVEHEQARL SLREKQEEVR RLQQAQAEAQ
REHEGAVQLL ESTLDSMQAR VRELEEQCRS QTEQFSLLAQ ELQAFRLHPG PLDLLTSALD
CGSLGDCPPP PCCCSIPQPC RGSGPKDLDL PPGSPGRCTP KSSEPAPATL TGVPRRTAKK
AESLSNSSHS ESIHNSPKSC PTPEVDTASE VEELEADSVS LLPAAPEGSR GGARIQVFLA
RYSYNPFEGP NENPEAELPL TAGEYIYIYG NMDEDGFFEG ELMDGRRGLV PSNFVERVSD
DDLLTSLPPE LADLSHSSGP ELSFLSVGGG GSSSGGQSSV GRSQPRPEEE DAGDELSLSP
SPEGLGEPPA VPYPRRLVVL KQLAHSVVLA WEPPPEQVEL HGFHICVNGE LRQALGPGAP
PKAVLENLDL WAGPLHISVQ ALTSRGSSDP LRCCLAVGAR AGVVPSQLRV HRLTATSAEI
TWVPGNSNLA HAIYLNGEEC PPASPSTYWA TFCHLRPGTP YQAQVEAQLP PQGPWEPGWE
RLEQRAATLQ FTTLPAGPPD APLDVQIEPG PSPGILIISW LPVTIDAAGT SNGVRVTGYA
IYADGQKIME VASPTAGSVL VELSQLQLLQ VCREVVVRTM SPHGESADSI PAPITPALAP
ASLPARVSCP SPHPSPEARA PLASASPGPG DPSSPLQHPA PLGTQEPPGA PPASPSREMA
KGSHEDPPAP CSQEEAGAAV LGTSEERTAS TSTLGEKDPG PAAPSLAKQE AEWTAGEACP
ASSSTQGARA QQAPNTEMCQ GGDPGSGLRP RAEKEDTAEL GVHLVNSLVD HGRNSDLSDI
QEEEEEEEEE EEEELGSRTC SFQKQVAGNS IRENGAKSQP DPFCETDSDE EILEQILELP
LQQFCSKKLF SIPEEEEEEE EDEEEEKSGA GCSSRDPGPP EPALLGLGCD SGQPRRPGQC
PLSPESSRAG DCLEDMPGLV GGSSRRRGGG SPEKPPSRRR PPDPREHCSR LLSNNGPQAS
GRLGPTRERG GLPVIEGPRT GLEASGRGRL GPSRRCSRGR ALEPGLASCL SPKCLEISIE
YDSEDEQEAG SGGISITSSC YPGDGEAWGT ATVGRPRGPP KANSGPKPYP RLPAWEKGEP
ERRGRSATGR AKEPLSRATE TGEARGQDGS GRRGPQKRGV RVLRPSTAEL VPARSPSETL
AYQHLPVRIF VALFDYDPVS MSPNPDAGEE ELPFREGQIL KVFGDKDADG FYQGEGGGRT
GYIPCNMVAE VAVDSPAGRQ QLLQRGYLSP DILLEGSGNG PFVYSTAHTT GPPPKPRRSK
KAESEGPAQP CPGPPKLVPS ADLKAPHSMV AAFDYNPQES SPNMDVEAEL PFRAGDVITV
FGGMDDDGFY YGELNGQRGL VPSNFLEGPG PEAGGLDREP RTPQAESQRT RRRRVQC
