Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O95153

- RIMB1_HUMAN

UniProt

O95153 - RIMB1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

Functioni

GO - Molecular functioni

  1. benzodiazepine receptor binding Source: UniProtKB
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 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
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.
ExpressionAtlasiO95153. baseline and differential.
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. 21 interactions.
IntActiO95153. 3 interactions.
MINTiMINT-4132417.
STRINGi9606.ENSP00000345824.

Structurei

3D structure databases

ProteinModelPortaliO95153.
SMRiO95153. Positions 650-740, 791-827, 881-948, 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.
GeneTreeiENSGT00390000017228.
HOGENOMiHOG000139176.
HOVERGENiHBG056664.
InParanoidiO95153.
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

        10         20         30         40         50
MEQLTTLPRP GDPGAMEPWA LPTWHSWTPG RGGEPSSAAP SIADTPPAAL
60 70 80 90 100
QLQELRSEES SKPKGDGSSR PVGGTDPEGA EACLPSLGQQ ASSSGPACQR
110 120 130 140 150
PEDEEVEAFL KAKLNMSFGD RPNLELLRAL GELRQRCAIL KEENQMLRKS
160 170 180 190 200
SFPETEEKVR RLKRKNAELA VIAKRLEERA RKLQETNLRV VSAPLPRPGT
210 220 230 240 250
SLELCRKALA RQRARDLSET ASALLAKDKQ IAALQRECRE LQARLTLVGK
260 270 280 290 300
EGPQWLHVRD FDRLLRESQR EVLRLQRQIA LRNQRETLPL PPSWPPGPAL
310 320 330 340 350
QARAGAPAPG APGEATPQED ADNLPVILGE PEKEQRVQQL ESELSKKRKK
360 370 380 390 400
CESLEQEARK KQRRCEELEL QLRQAQNENA RLVEENSRLS GRATEKEQVE
410 420 430 440 450
WENAELRGQL LGVTQERDSA LRKSQGLQSK LESLEQVLKH MREVAQRRQQ
460 470 480 490 500
LEVEHEQARL SLREKQEEVR RLQQAQAEAQ REHEGAVQLL ESTLDSMQAR
510 520 530 540 550
VRELEEQCRS QTEQFSLLAQ ELQAFRLHPG PLDLLTSALD CGSLGDCPPP
560 570 580 590 600
PCCCSIPQPC RGSGPKDLDL PPGSPGRCTP KSSEPAPATL TGVPRRTAKK
610 620 630 640 650
AESLSNSSHS ESIHNSPKSC PTPEVDTASE VEELEADSVS LLPAAPEGSR
660 670 680 690 700
GGARIQVFLA RYSYNPFEGP NENPEAELPL TAGEYIYIYG NMDEDGFFEG
710 720 730 740 750
ELMDGRRGLV PSNFVERVSD DDLLTSLPPE LADLSHSSGP ELSFLSVGGG
760 770 780 790 800
GSSSGGQSSV GRSQPRPEEE DAGDELSLSP SPEGLGEPPA VPYPRRLVVL
810 820 830 840 850
KQLAHSVVLA WEPPPEQVEL HGFHICVNGE LRQALGPGAP PKAVLENLDL
860 870 880 890 900
WAGPLHISVQ ALTSRGSSDP LRCCLAVGAR AGVVPSQLRV HRLTATSAEI
910 920 930 940 950
TWVPGNSNLA HAIYLNGEEC PPASPSTYWA TFCHLRPGTP YQAQVEAQLP
960 970 980 990 1000
PQGPWEPGWE RLEQRAATLQ FTTLPAGPPD APLDVQIEPG PSPGILIISW
1010 1020 1030 1040 1050
LPVTIDAAGT SNGVRVTGYA IYADGQKIME VASPTAGSVL VELSQLQLLQ
1060 1070 1080 1090 1100
VCREVVVRTM SPHGESADSI PAPITPALAP ASLPARVSCP SPHPSPEARA
1110 1120 1130 1140 1150
PLASASPGPG DPSSPLQHPA PLGTQEPPGA PPASPSREMA KGSHEDPPAP
1160 1170 1180 1190 1200
CSQEEAGAAV LGTSEERTAS TSTLGEKDPG PAAPSLAKQE AEWTAGEACP
1210 1220 1230 1240 1250
ASSSTQGARA QQAPNTEMCQ GGDPGSGLRP RAEKEDTAEL GVHLVNSLVD
1260 1270 1280 1290 1300
HGRNSDLSDI QEEEEEEEEE EEEELGSRTC SFQKQVAGNS IRENGAKSQP
1310 1320 1330 1340 1350
DPFCETDSDE EILEQILELP LQQFCSKKLF SIPEEEEEEE EDEEEEKSGA
1360 1370 1380 1390 1400
GCSSRDPGPP EPALLGLGCD SGQPRRPGQC PLSPESSRAG DCLEDMPGLV
1410 1420 1430 1440 1450
GGSSRRRGGG SPEKPPSRRR PPDPREHCSR LLSNNGPQAS GRLGPTRERG
1460 1470 1480 1490 1500
GLPVIEGPRT GLEASGRGRL GPSRRCSRGR ALEPGLASCL SPKCLEISIE
1510 1520 1530 1540 1550
YDSEDEQEAG SGGISITSSC YPGDGEAWGT ATVGRPRGPP KANSGPKPYP
1560 1570 1580 1590 1600
RLPAWEKGEP ERRGRSATGR AKEPLSRATE TGEARGQDGS GRRGPQKRGV
1610 1620 1630 1640 1650
RVLRPSTAEL VPARSPSETL AYQHLPVRIF VALFDYDPVS MSPNPDAGEE
1660 1670 1680 1690 1700
ELPFREGQIL KVFGDKDADG FYQGEGGGRT GYIPCNMVAE VAVDSPAGRQ
1710 1720 1730 1740 1750
QLLQRGYLSP DILLEGSGNG PFVYSTAHTT GPPPKPRRSK KAESEGPAQP
1760 1770 1780 1790 1800
CPGPPKLVPS ADLKAPHSMV AAFDYNPQES SPNMDVEAEL PFRAGDVITV
1810 1820 1830 1840 1850
FGGMDDDGFY YGELNGQRGL VPSNFLEGPG PEAGGLDREP RTPQAESQRT

RRRRVQC

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, 791-827, 881-948, 966-1095, 1623-1694, 1769-1834.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114680. 21 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.
GeneTreei ENSGT00390000017228.
HOGENOMi HOG000139176.
HOVERGENi HBG056664.
InParanoidi O95153.
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.
ExpressionAtlasi O95153. baseline and differential.
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: October 29, 2014
This is version 125 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