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O95153

- RIMB1_HUMAN

UniProt

O95153 - RIMB1_HUMAN

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Protein

Peripheral-type benzodiazepine receptor-associated protein 1

Gene
BZRAP1, KIAA0612, RBP1, RIMBP1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. benzodiazepine receptor binding Source: UniProtKB
  2. protein binding Source: IntAct
Complete GO annotation...

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

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. mitochondrion Source: UniProtKB
Complete GO annotation...

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.1 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.

Family & Domainsi

Domains and Repeats

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

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.

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. VSP_009204Add
BLAST
Alternative sequencei1849 – 18579RTRRRRVQC → DWGCTTQGSPGPPGGPCTPS SGSAPRIERGEPQGRSEKVW GFFSKGKQLLRRLGSGKKE in isoform 3. VSP_009205

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1525 – 15251G → R in AAD11957. 1 Publication

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]
ENST00000355701; ENSP00000347929; ENSG00000005379. [O95153-3]
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 ]
ENST00000355701 ; ENSP00000347929 ; ENSG00000005379 . [O95153-3 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 123 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

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