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O95153

- RIMB1_HUMAN

UniProt

O95153 - RIMB1_HUMAN

Protein

Peripheral-type benzodiazepine receptor-associated protein 1

Gene

BZRAP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 2 (17 Apr 2007)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. benzodiazepine receptor binding Source: UniProtKB
    2. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Peripheral-type benzodiazepine receptor-associated protein 1
    Short name:
    PRAX-1
    Alternative name(s):
    Peripheral benzodiazepine receptor-interacting protein
    Short name:
    PBR-IP
    RIMS-binding protein 1
    Short name:
    RIM-BP1
    Gene namesi
    Name:BZRAP1
    Synonyms:KIAA0612, RBP1, RIMBP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:16831. BZRAP1.

    Subcellular locationi

    Cytoplasm 1 Publication. Mitochondrion 1 Publication
    Note: Preferentially expressed in the mitochondria in the presence of BZRP.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA128394545.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 18571857Peripheral-type benzodiazepine receptor-associated protein 1PRO_0000221380Add
    BLAST

    Proteomic databases

    PaxDbiO95153.
    PRIDEiO95153.

    PTM databases

    PhosphoSiteiO95153.

    Miscellaneous databases

    PMAP-CutDBO95153.

    Expressioni

    Tissue specificityi

    Predominantly expressed in brain, pituitary gland and thymus in adults. In adult brain, highest expression found in temporal lobe and the putamen, followed by amygdala, caudate nucleus, cerebral cortex, occipital and frontal lobe. A high expression level is also observed in fetal tissues like brain, heart, kidney and thymus.1 Publication

    Gene expression databases

    BgeeiO95153.
    CleanExiHS_BZRAP1.
    HS_RBP1.
    GenevestigatoriO95153.

    Organism-specific databases

    HPAiHPA024662.
    HPA025244.

    Interactioni

    Subunit structurei

    Interacts with RIMS1 and RIMS2 By similarity. Interacts with BZRP.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CACNA1AO005552EBI-5915931,EBI-766279

    Protein-protein interaction databases

    BioGridi114680. 3 interactions.
    IntActiO95153. 3 interactions.
    MINTiMINT-4132417.
    STRINGi9606.ENSP00000345824.

    Structurei

    3D structure databases

    ProteinModelPortaliO95153.
    SMRiO95153. Positions 650-740, 791-871, 966-1095, 1623-1694, 1769-1834.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini653 – 72068SH3 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini791 – 88292Fibronectin type-III 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini884 – 97693Fibronectin type-III 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini981 – 1081101Fibronectin type-III 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini1625 – 169369SH3 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1764 – 183168SH3 3PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1071 – 115080Pro-richAdd
    BLAST
    Compositional biasi1262 – 127413Poly-GluAdd
    BLAST
    Compositional biasi1334 – 134613Poly-GluAdd
    BLAST

    Domaini

    The SH3 and proline-rich domain is required for the interaction with BZRP and the second SH3 domain mediates binding to a proline-rich motif in RIMS1 and RIMS2.By similarity

    Sequence similaritiesi

    Belongs to the RIMBP family.Curated
    Contains 3 fibronectin type-III domains.PROSITE-ProRule annotation
    Contains 3 SH3 domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, SH3 domain

    Phylogenomic databases

    eggNOGiNOG327664.
    HOGENOMiHOG000139176.
    HOVERGENiHBG056664.
    OMAiMEPWALP.
    OrthoDBiEOG76738Z.
    PhylomeDBiO95153.
    TreeFamiTF316230.

    Family and domain databases

    InterProiIPR003961. Fibronectin_type3.
    IPR011511. SH3_2.
    IPR001452. SH3_domain.
    [Graphical view]
    PfamiPF07653. SH3_2. 2 hits.
    PF14604. SH3_9. 1 hit.
    [Graphical view]
    SMARTiSM00060. FN3. 3 hits.
    SM00326. SH3. 3 hits.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 2 hits.
    SSF50044. SSF50044. 3 hits.
    PROSITEiPS50853. FN3. 3 hits.
    PS50002. SH3. 3 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95153-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEQLTTLPRP GDPGAMEPWA LPTWHSWTPG RGGEPSSAAP SIADTPPAAL     50
    QLQELRSEES SKPKGDGSSR PVGGTDPEGA EACLPSLGQQ ASSSGPACQR 100
    PEDEEVEAFL KAKLNMSFGD RPNLELLRAL GELRQRCAIL KEENQMLRKS 150
    SFPETEEKVR RLKRKNAELA VIAKRLEERA RKLQETNLRV VSAPLPRPGT 200
    SLELCRKALA RQRARDLSET ASALLAKDKQ IAALQRECRE LQARLTLVGK 250
    EGPQWLHVRD FDRLLRESQR EVLRLQRQIA LRNQRETLPL PPSWPPGPAL 300
    QARAGAPAPG APGEATPQED ADNLPVILGE PEKEQRVQQL ESELSKKRKK 350
    CESLEQEARK KQRRCEELEL QLRQAQNENA RLVEENSRLS GRATEKEQVE 400
    WENAELRGQL LGVTQERDSA LRKSQGLQSK LESLEQVLKH MREVAQRRQQ 450
    LEVEHEQARL SLREKQEEVR RLQQAQAEAQ REHEGAVQLL ESTLDSMQAR 500
    VRELEEQCRS QTEQFSLLAQ ELQAFRLHPG PLDLLTSALD CGSLGDCPPP 550
    PCCCSIPQPC RGSGPKDLDL PPGSPGRCTP KSSEPAPATL TGVPRRTAKK 600
    AESLSNSSHS ESIHNSPKSC PTPEVDTASE VEELEADSVS LLPAAPEGSR 650
    GGARIQVFLA RYSYNPFEGP NENPEAELPL TAGEYIYIYG NMDEDGFFEG 700
    ELMDGRRGLV PSNFVERVSD DDLLTSLPPE LADLSHSSGP ELSFLSVGGG 750
    GSSSGGQSSV GRSQPRPEEE DAGDELSLSP SPEGLGEPPA VPYPRRLVVL 800
    KQLAHSVVLA WEPPPEQVEL HGFHICVNGE LRQALGPGAP PKAVLENLDL 850
    WAGPLHISVQ ALTSRGSSDP LRCCLAVGAR AGVVPSQLRV HRLTATSAEI 900
    TWVPGNSNLA HAIYLNGEEC PPASPSTYWA TFCHLRPGTP YQAQVEAQLP 950
    PQGPWEPGWE RLEQRAATLQ FTTLPAGPPD APLDVQIEPG PSPGILIISW 1000
    LPVTIDAAGT SNGVRVTGYA IYADGQKIME VASPTAGSVL VELSQLQLLQ 1050
    VCREVVVRTM SPHGESADSI PAPITPALAP ASLPARVSCP SPHPSPEARA 1100
    PLASASPGPG DPSSPLQHPA PLGTQEPPGA PPASPSREMA KGSHEDPPAP 1150
    CSQEEAGAAV LGTSEERTAS TSTLGEKDPG PAAPSLAKQE AEWTAGEACP 1200
    ASSSTQGARA QQAPNTEMCQ GGDPGSGLRP RAEKEDTAEL GVHLVNSLVD 1250
    HGRNSDLSDI QEEEEEEEEE EEEELGSRTC SFQKQVAGNS IRENGAKSQP 1300
    DPFCETDSDE EILEQILELP LQQFCSKKLF SIPEEEEEEE EDEEEEKSGA 1350
    GCSSRDPGPP EPALLGLGCD SGQPRRPGQC PLSPESSRAG DCLEDMPGLV 1400
    GGSSRRRGGG SPEKPPSRRR PPDPREHCSR LLSNNGPQAS GRLGPTRERG 1450
    GLPVIEGPRT GLEASGRGRL GPSRRCSRGR ALEPGLASCL SPKCLEISIE 1500
    YDSEDEQEAG SGGISITSSC YPGDGEAWGT ATVGRPRGPP KANSGPKPYP 1550
    RLPAWEKGEP ERRGRSATGR AKEPLSRATE TGEARGQDGS GRRGPQKRGV 1600
    RVLRPSTAEL VPARSPSETL AYQHLPVRIF VALFDYDPVS MSPNPDAGEE 1650
    ELPFREGQIL KVFGDKDADG FYQGEGGGRT GYIPCNMVAE VAVDSPAGRQ 1700
    QLLQRGYLSP DILLEGSGNG PFVYSTAHTT GPPPKPRRSK KAESEGPAQP 1750
    CPGPPKLVPS ADLKAPHSMV AAFDYNPQES SPNMDVEAEL PFRAGDVITV 1800
    FGGMDDDGFY YGELNGQRGL VPSNFLEGPG PEAGGLDREP RTPQAESQRT 1850
    RRRRVQC 1857

    Note: No experimental confirmation available.

    Length:1,857
    Mass (Da):200,051
    Last modified:April 17, 2007 - v2
    Checksum:i594F850C95F9EE02
    GO
    Isoform 2 (identifier: O95153-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         191-250: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,797
    Mass (Da):193,499
    Checksum:i8FD6E4FE89AA091F
    GO
    Isoform 3 (identifier: O95153-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1849-1857: RTRRRRVQC → DWGCTTQGSPGPPGGPCTPSSGSAPRIERGEPQGRSEKVWGFFSKGKQLLRRLGSGKKE

    Note: No experimental confirmation available.

    Show »
    Length:1,907
    Mass (Da):205,050
    Checksum:i5034E93B8DB0E907
    GO

    Sequence cautioni

    The sequence BAA31587.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1525 – 15251G → R in AAD11957. (PubMed:9915832)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti514 – 5141Q → R.
    Corresponds to variant rs2072145 [ dbSNP | Ensembl ].
    VAR_017446
    Natural varianti586 – 5861A → T.
    Corresponds to variant rs2072147 [ dbSNP | Ensembl ].
    VAR_017447
    Natural varianti652 – 6521G → R.1 Publication
    VAR_070193
    Natural varianti817 – 8171Q → R.1 Publication
    Corresponds to variant rs9913145 [ dbSNP | Ensembl ].
    VAR_031662
    Natural varianti851 – 8511W → R.1 Publication
    Corresponds to variant rs9905604 [ dbSNP | Ensembl ].
    VAR_031663
    Natural varianti1118 – 11181H → L.1 Publication
    Corresponds to variant rs3744099 [ dbSNP | Ensembl ].
    VAR_017448
    Natural varianti1140 – 11401A → P.1 Publication
    Corresponds to variant rs2680704 [ dbSNP | Ensembl ].
    VAR_017449
    Natural varianti1253 – 12531R → C.
    Corresponds to variant rs3744101 [ dbSNP | Ensembl ].
    VAR_017450
    Natural varianti1728 – 17281H → R.1 Publication
    Corresponds to variant rs11079346 [ dbSNP | Ensembl ].
    VAR_031664
    Natural varianti1830 – 18301G → E.
    Corresponds to variant rs2301868 [ dbSNP | Ensembl ].
    VAR_017451

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei191 – 25060Missing in isoform 2. 1 PublicationVSP_009204Add
    BLAST
    Alternative sequencei1849 – 18579RTRRRRVQC → DWGCTTQGSPGPPGGPCTPS SGSAPRIERGEPQGRSEKVW GFFSKGKQLLRRLGSGKKE in isoform 3. 1 PublicationVSP_009205

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF039571 mRNA. Translation: AAD11957.1.
    AB014512 mRNA. Translation: BAA31587.2. Different initiation.
    BC031401 mRNA. Translation: AAH31401.1.
    CCDSiCCDS11605.1. [O95153-1]
    CCDS45742.1. [O95153-2]
    PIRiT00391.
    RefSeqiNP_001248764.1. NM_001261835.1.
    NP_004749.2. NM_004758.3. [O95153-1]
    NP_077729.1. NM_024418.2. [O95153-2]
    XP_006722236.1. XM_006722173.1. [O95153-3]
    UniGeneiHs.112499.

    Genome annotation databases

    EnsembliENST00000268893; ENSP00000268893; ENSG00000005379. [O95153-2]
    ENST00000343736; ENSP00000345824; ENSG00000005379. [O95153-1]
    ENST00000581675; ENSP00000462518; ENSG00000005379.
    GeneIDi9256.
    KEGGihsa:9256.
    UCSCiuc002ivx.5. human. [O95153-1]
    uc010dcs.4. human. [O95153-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF039571 mRNA. Translation: AAD11957.1 .
    AB014512 mRNA. Translation: BAA31587.2 . Different initiation.
    BC031401 mRNA. Translation: AAH31401.1 .
    CCDSi CCDS11605.1. [O95153-1 ]
    CCDS45742.1. [O95153-2 ]
    PIRi T00391.
    RefSeqi NP_001248764.1. NM_001261835.1.
    NP_004749.2. NM_004758.3. [O95153-1 ]
    NP_077729.1. NM_024418.2. [O95153-2 ]
    XP_006722236.1. XM_006722173.1. [O95153-3 ]
    UniGenei Hs.112499.

    3D structure databases

    ProteinModelPortali O95153.
    SMRi O95153. Positions 650-740, 791-871, 966-1095, 1623-1694, 1769-1834.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114680. 3 interactions.
    IntActi O95153. 3 interactions.
    MINTi MINT-4132417.
    STRINGi 9606.ENSP00000345824.

    Chemistry

    BindingDBi O95153.

    PTM databases

    PhosphoSitei O95153.

    Proteomic databases

    PaxDbi O95153.
    PRIDEi O95153.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000268893 ; ENSP00000268893 ; ENSG00000005379 . [O95153-2 ]
    ENST00000343736 ; ENSP00000345824 ; ENSG00000005379 . [O95153-1 ]
    ENST00000581675 ; ENSP00000462518 ; ENSG00000005379 .
    GeneIDi 9256.
    KEGGi hsa:9256.
    UCSCi uc002ivx.5. human. [O95153-1 ]
    uc010dcs.4. human. [O95153-2 ]

    Organism-specific databases

    CTDi 9256.
    GeneCardsi GC17M056379.
    H-InvDB HIX0014027.
    HGNCi HGNC:16831. BZRAP1.
    HPAi HPA024662.
    HPA025244.
    MIMi 610764. gene.
    neXtProti NX_O95153.
    PharmGKBi PA128394545.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG327664.
    HOGENOMi HOG000139176.
    HOVERGENi HBG056664.
    OMAi MEPWALP.
    OrthoDBi EOG76738Z.
    PhylomeDBi O95153.
    TreeFami TF316230.

    Miscellaneous databases

    ChiTaRSi BZRAP1. human.
    GenomeRNAii 9256.
    NextBioi 34699.
    PMAP-CutDB O95153.
    PROi O95153.
    SOURCEi Search...

    Gene expression databases

    Bgeei O95153.
    CleanExi HS_BZRAP1.
    HS_RBP1.
    Genevestigatori O95153.

    Family and domain databases

    InterProi IPR003961. Fibronectin_type3.
    IPR011511. SH3_2.
    IPR001452. SH3_domain.
    [Graphical view ]
    Pfami PF07653. SH3_2. 2 hits.
    PF14604. SH3_9. 1 hit.
    [Graphical view ]
    SMARTi SM00060. FN3. 3 hits.
    SM00326. SH3. 3 hits.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 2 hits.
    SSF50044. SSF50044. 3 hits.
    PROSITEi PS50853. FN3. 3 hits.
    PS50002. SH3. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of PRAX-1. A new protein that specifically interacts with the peripheral benzodiazepine receptor."
      Galiegue S., Jbilo O., Combes T., Bribes E., Carayon P., Le Fur G., Casellas P.
      J. Biol. Chem. 274:2938-2952(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH BZRP.
      Tissue: Brain.
    2. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ARG-817; ARG-851; LEU-1118; PRO-1140 AND ARG-1728.
      Tissue: Brain.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1737-1857 (ISOFORM 3).
      Tissue: Brain.
    4. "Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta."
      Parry D.A., Poulter J.A., Logan C.V., Brookes S.J., Jafri H., Ferguson C.H., Anwari B.M., Rashid Y., Zhao H., Johnson C.A., Inglehearn C.F., Mighell A.J.
      Am. J. Hum. Genet. 92:307-312(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-652.

    Entry informationi

    Entry nameiRIMB1_HUMAN
    AccessioniPrimary (citable) accession number: O95153
    Secondary accession number(s): O75111, Q8N5W3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 16, 2004
    Last sequence update: April 17, 2007
    Last modified: October 1, 2014
    This is version 124 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3