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   13-FEB-2019, entry version 161.
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;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; 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
RT   specifically 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
RP   ARG-817; 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.
RT   The complete sequences of 100 new cDNA clones from brain which can
RT   code for 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
RT   project: 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-
RT   dependent sodium/calcium exchanger, as a cause of amelogenesis
RT   imperfecta.";
RL   Am. J. Hum. Genet. 92:307-312(2013).
CC   -!- SUBUNIT: Interacts with RIMS1 and RIMS2 (By similarity). Interacts
CC       with TSPO. {ECO:0000250, ECO:0000269|PubMed:9915832}.
CC   -!- INTERACTION:
CC       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         Note=No experimental confirmation available.;
CC       Name=2;
CC         IsoId=O95153-2; Sequence=VSP_009204;
CC         Note=No experimental confirmation available.;
CC       Name=3;
CC         IsoId=O95153-3; Sequence=VSP_009205;
CC         Note=No experimental confirmation available.;
CC   -!- TISSUE SPECIFICITY: Predominantly expressed in brain, pituitary
CC       gland and thymus in adults. In adult brain, highest expression
CC       found in temporal lobe and the putamen, followed by amygdala,
CC       caudate nucleus, cerebral cortex, occipital and frontal lobe. A
CC       high expression level is also observed in fetal tissues like
CC       brain, heart, kidney and thymus. {ECO:0000269|PubMed:9915832}.
CC   -!- DOMAIN: The SH3 and proline-rich domain is required for the
CC       interaction with TSPO and the second SH3 domain mediates binding
CC       to a proline-rich 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
CC       later PubMed:12435798 demonstrated in the rat ortholog that is not
CC       associated 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. [O95153-3]
DR   UniGene; Hs.112499; -.
DR   ProteinModelPortal; O95153; -.
DR   SMR; O95153; -.
DR   BioGrid; 114680; 21.
DR   IntAct; O95153; 5.
DR   MINT; O95153; -.
DR   STRING; 9606.ENSP00000345824; -.
DR   BindingDB; O95153; -.
DR   CarbonylDB; O95153; -.
DR   iPTMnet; O95153; -.
DR   PhosphoSitePlus; O95153; -.
DR   BioMuta; TSPOAP1; -.
DR   jPOST; O95153; -.
DR   PaxDb; O95153; -.
DR   PeptideAtlas; O95153; -.
DR   PRIDE; O95153; -.
DR   ProteomicsDB; 50666; -.
DR   ProteomicsDB; 50667; -. [O95153-2]
DR   ProteomicsDB; 50668; -. [O95153-3]
DR   Ensembl; ENST00000268893; ENSP00000268893; ENSG00000005379. [O95153-2]
DR   Ensembl; ENST00000343736; ENSP00000345824; ENSG00000005379. [O95153-1]
DR   GeneID; 9256; -.
DR   KEGG; hsa:9256; -.
DR   UCSC; uc002ivx.6; human. [O95153-1]
DR   CTD; 9256; -.
DR   DisGeNET; 9256; -.
DR   EuPathDB; HostDB:ENSG00000005379.15; -.
DR   GeneCards; TSPOAP1; -.
DR   H-InvDB; HIX0014027; -.
DR   HGNC; HGNC:16831; TSPOAP1.
DR   HPA; HPA024662; -.
DR   HPA; HPA025244; -.
DR   MIM; 610764; gene.
DR   neXtProt; NX_O95153; -.
DR   OpenTargets; ENSG00000005379; -.
DR   PharmGKB; PA128394545; -.
DR   eggNOG; KOG3632; Eukaryota.
DR   eggNOG; ENOG410XZ8W; LUCA.
DR   GeneTree; ENSGT00940000154275; -.
DR   HOGENOM; HOG000139176; -.
DR   HOVERGEN; HBG056664; -.
DR   InParanoid; O95153; -.
DR   KO; K19922; -.
DR   OMA; SWEPGWE; -.
DR   OrthoDB; 102427at2759; -.
DR   PhylomeDB; O95153; -.
DR   TreeFam; TF316230; -.
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   ChiTaRS; TSPOAP1; human.
DR   GenomeRNAi; 9256; -.
DR   PMAP-CutDB; O95153; -.
DR   PRO; PR:O95153; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   Bgee; ENSG00000005379; Expressed in 200 organ(s), highest expression level in right frontal lobe.
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   GO; GO:0006700; P:C21-steroid hormone biosynthetic process; TAS:Reactome.
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; IPR035517; RIM-BP1.
DR   InterPro; IPR035753; RIM-BP_SH3_2.
DR   InterPro; IPR035755; RIM-BP_SH3_3.
DR   InterPro; IPR036028; SH3-like_dom_sf.
DR   InterPro; IPR001452; SH3_domain.
DR   PANTHER; PTHR14234:SF20; PTHR14234:SF20; 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; Complete proteome; Cytoplasm; Mitochondrion;
KW   Polymorphism; Reference proteome; Repeat; SH3 domain.
FT   CHAIN         1   1857       Peripheral-type benzodiazepine receptor-
FT                                associated protein 1.
FT                                /FTId=PRO_0000221380.
FT   DOMAIN      653    720       SH3 1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00192}.
FT   DOMAIN      791    882       Fibronectin type-III 1.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00316}.
FT   DOMAIN      884    976       Fibronectin type-III 2.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00316}.
FT   DOMAIN      981   1081       Fibronectin type-III 3.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00316}.
FT   DOMAIN     1625   1693       SH3 2. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00192}.
FT   DOMAIN     1764   1831       SH3 3. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00192}.
FT   COMPBIAS   1071   1150       Pro-rich.
FT   COMPBIAS   1262   1274       Poly-Glu.
FT   COMPBIAS   1334   1346       Poly-Glu.
FT   VAR_SEQ     191    250       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:9734811}.
FT                                /FTId=VSP_009204.
FT   VAR_SEQ    1849   1857       RTRRRRVQC -> DWGCTTQGSPGPPGGPCTPSSGSAPRIE
FT                                RGEPQGRSEKVWGFFSKGKQLLRRLGSGKKE (in
FT                                isoform 3).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_009205.
FT   VARIANT     514    514       Q -> R (in dbSNP:rs2072145).
FT                                /FTId=VAR_017446.
FT   VARIANT     586    586       A -> T (in dbSNP:rs2072147).
FT                                /FTId=VAR_017447.
FT   VARIANT     652    652       G -> R (in dbSNP:rs373894175).
FT                                {ECO:0000269|PubMed:23375655}.
FT                                /FTId=VAR_070193.
FT   VARIANT     817    817       Q -> R (in dbSNP:rs9913145).
FT                                {ECO:0000269|PubMed:9734811}.
FT                                /FTId=VAR_031662.
FT   VARIANT     851    851       W -> R (in dbSNP:rs9905604).
FT                                {ECO:0000269|PubMed:9734811}.
FT                                /FTId=VAR_031663.
FT   VARIANT    1118   1118       H -> L (in dbSNP:rs3744099).
FT                                {ECO:0000269|PubMed:9734811}.
FT                                /FTId=VAR_017448.
FT   VARIANT    1140   1140       A -> P (in dbSNP:rs2680704).
FT                                {ECO:0000269|PubMed:9734811}.
FT                                /FTId=VAR_017449.
FT   VARIANT    1253   1253       R -> C (in dbSNP:rs3744101).
FT                                /FTId=VAR_017450.
FT   VARIANT    1728   1728       H -> R (in dbSNP:rs11079346).
FT                                {ECO:0000269|PubMed:9734811}.
FT                                /FTId=VAR_031664.
FT   VARIANT    1830   1830       G -> E (in dbSNP:rs2301868).
FT                                /FTId=VAR_017451.
FT   CONFLICT   1525   1525       G -> R (in Ref. 1; AAD11957).
FT                                {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
//