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O95153 (RIMB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:BZRAP1
Synonyms:KIAA0612, RBP1, RIMBP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1857 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with RIMS1 and RIMS2 By similarity. Interacts with BZRP. Ref.1

Subcellular location

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

Tissue specificity

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. Ref.1

Domain

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 similarities

Belongs to the RIMBP family.

Contains 3 fibronectin type-III domains.

Contains 3 SH3 domains.

Caution

Ref.1 demonstrated interaction with BZRP but later PubMed:12435798 demonstrated in the rat ortholog that is not associated with BZRP in the brain.

Sequence caution

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

Ontologies

Keywords
   Cellular componentCytoplasm
Mitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
SH3 domain
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from direct assay Ref.1. Source: UniProtKB

mitochondrion

Inferred from direct assay Ref.1. Source: UniProtKB

   Molecular_functionbenzodiazepine receptor binding

Inferred from physical interaction Ref.1. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 21078624. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CACNA1AO005552EBI-5915931,EBI-766279

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95153-1)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: O95153-2)

The sequence of this isoform differs from the canonical sequence as follows:
     191-250: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: O95153-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1849-1857: RTRRRRVQC → DWGCTTQGSPGPPGGPCTPSSGSAPRIERGEPQGRSEKVWGFFSKGKQLLRRLGSGKKE
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 18571857Peripheral-type benzodiazepine receptor-associated protein 1
PRO_0000221380

Regions

Domain653 – 72068SH3 1
Domain791 – 88292Fibronectin type-III 1
Domain884 – 97693Fibronectin type-III 2
Domain981 – 1081101Fibronectin type-III 3
Domain1625 – 169369SH3 2
Domain1764 – 183168SH3 3
Compositional bias1071 – 115080Pro-rich
Compositional bias1262 – 127413Poly-Glu
Compositional bias1334 – 134613Poly-Glu

Natural variations

Alternative sequence191 – 25060Missing in isoform 2.
VSP_009204
Alternative sequence1849 – 18579RTRRRRVQC → DWGCTTQGSPGPPGGPCTPS SGSAPRIERGEPQGRSEKVW GFFSKGKQLLRRLGSGKKE in isoform 3.
VSP_009205
Natural variant5141Q → R.
Corresponds to variant rs2072145 [ dbSNP | Ensembl ].
VAR_017446
Natural variant5861A → T.
Corresponds to variant rs2072147 [ dbSNP | Ensembl ].
VAR_017447
Natural variant6521G → R. Ref.4
VAR_070193
Natural variant8171Q → R. Ref.2
Corresponds to variant rs9913145 [ dbSNP | Ensembl ].
VAR_031662
Natural variant8511W → R. Ref.2
Corresponds to variant rs9905604 [ dbSNP | Ensembl ].
VAR_031663
Natural variant11181H → L. Ref.2
Corresponds to variant rs3744099 [ dbSNP | Ensembl ].
VAR_017448
Natural variant11401A → P. Ref.2
Corresponds to variant rs2680704 [ dbSNP | Ensembl ].
VAR_017449
Natural variant12531R → C.
Corresponds to variant rs3744101 [ dbSNP | Ensembl ].
VAR_017450
Natural variant17281H → R. Ref.2
Corresponds to variant rs11079346 [ dbSNP | Ensembl ].
VAR_031664
Natural variant18301G → E.
Corresponds to variant rs2301868 [ dbSNP | Ensembl ].
VAR_017451

Experimental info

Sequence conflict15251G → R in AAD11957. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 17, 2007. Version 2.
Checksum: 594F850C95F9EE02

FASTA1,857200,051
        10         20         30         40         50         60 
MEQLTTLPRP GDPGAMEPWA LPTWHSWTPG RGGEPSSAAP SIADTPPAAL QLQELRSEES 

        70         80         90        100        110        120 
SKPKGDGSSR PVGGTDPEGA EACLPSLGQQ ASSSGPACQR PEDEEVEAFL KAKLNMSFGD 

       130        140        150        160        170        180 
RPNLELLRAL GELRQRCAIL KEENQMLRKS SFPETEEKVR RLKRKNAELA VIAKRLEERA 

       190        200        210        220        230        240 
RKLQETNLRV VSAPLPRPGT SLELCRKALA RQRARDLSET ASALLAKDKQ IAALQRECRE 

       250        260        270        280        290        300 
LQARLTLVGK EGPQWLHVRD FDRLLRESQR EVLRLQRQIA LRNQRETLPL PPSWPPGPAL 

       310        320        330        340        350        360 
QARAGAPAPG APGEATPQED ADNLPVILGE PEKEQRVQQL ESELSKKRKK CESLEQEARK 

       370        380        390        400        410        420 
KQRRCEELEL QLRQAQNENA RLVEENSRLS GRATEKEQVE WENAELRGQL LGVTQERDSA 

       430        440        450        460        470        480 
LRKSQGLQSK LESLEQVLKH MREVAQRRQQ LEVEHEQARL SLREKQEEVR RLQQAQAEAQ 

       490        500        510        520        530        540 
REHEGAVQLL ESTLDSMQAR VRELEEQCRS QTEQFSLLAQ ELQAFRLHPG PLDLLTSALD 

       550        560        570        580        590        600 
CGSLGDCPPP PCCCSIPQPC RGSGPKDLDL PPGSPGRCTP KSSEPAPATL TGVPRRTAKK 

       610        620        630        640        650        660 
AESLSNSSHS ESIHNSPKSC PTPEVDTASE VEELEADSVS LLPAAPEGSR GGARIQVFLA 

       670        680        690        700        710        720 
RYSYNPFEGP NENPEAELPL TAGEYIYIYG NMDEDGFFEG ELMDGRRGLV PSNFVERVSD 

       730        740        750        760        770        780 
DDLLTSLPPE LADLSHSSGP ELSFLSVGGG GSSSGGQSSV GRSQPRPEEE DAGDELSLSP 

       790        800        810        820        830        840 
SPEGLGEPPA VPYPRRLVVL KQLAHSVVLA WEPPPEQVEL HGFHICVNGE LRQALGPGAP 

       850        860        870        880        890        900 
PKAVLENLDL WAGPLHISVQ ALTSRGSSDP LRCCLAVGAR AGVVPSQLRV HRLTATSAEI 

       910        920        930        940        950        960 
TWVPGNSNLA HAIYLNGEEC PPASPSTYWA TFCHLRPGTP YQAQVEAQLP PQGPWEPGWE 

       970        980        990       1000       1010       1020 
RLEQRAATLQ FTTLPAGPPD APLDVQIEPG PSPGILIISW LPVTIDAAGT SNGVRVTGYA 

      1030       1040       1050       1060       1070       1080 
IYADGQKIME VASPTAGSVL VELSQLQLLQ VCREVVVRTM SPHGESADSI PAPITPALAP 

      1090       1100       1110       1120       1130       1140 
ASLPARVSCP SPHPSPEARA PLASASPGPG DPSSPLQHPA PLGTQEPPGA PPASPSREMA 

      1150       1160       1170       1180       1190       1200 
KGSHEDPPAP CSQEEAGAAV LGTSEERTAS TSTLGEKDPG PAAPSLAKQE AEWTAGEACP 

      1210       1220       1230       1240       1250       1260 
ASSSTQGARA QQAPNTEMCQ GGDPGSGLRP RAEKEDTAEL GVHLVNSLVD HGRNSDLSDI 

      1270       1280       1290       1300       1310       1320 
QEEEEEEEEE EEEELGSRTC SFQKQVAGNS IRENGAKSQP DPFCETDSDE EILEQILELP 

      1330       1340       1350       1360       1370       1380 
LQQFCSKKLF SIPEEEEEEE EDEEEEKSGA GCSSRDPGPP EPALLGLGCD SGQPRRPGQC 

      1390       1400       1410       1420       1430       1440 
PLSPESSRAG DCLEDMPGLV GGSSRRRGGG SPEKPPSRRR PPDPREHCSR LLSNNGPQAS 

      1450       1460       1470       1480       1490       1500 
GRLGPTRERG GLPVIEGPRT GLEASGRGRL GPSRRCSRGR ALEPGLASCL SPKCLEISIE 

      1510       1520       1530       1540       1550       1560 
YDSEDEQEAG SGGISITSSC YPGDGEAWGT ATVGRPRGPP KANSGPKPYP RLPAWEKGEP 

      1570       1580       1590       1600       1610       1620 
ERRGRSATGR AKEPLSRATE TGEARGQDGS GRRGPQKRGV RVLRPSTAEL VPARSPSETL 

      1630       1640       1650       1660       1670       1680 
AYQHLPVRIF VALFDYDPVS MSPNPDAGEE ELPFREGQIL KVFGDKDADG FYQGEGGGRT 

      1690       1700       1710       1720       1730       1740 
GYIPCNMVAE VAVDSPAGRQ QLLQRGYLSP DILLEGSGNG PFVYSTAHTT GPPPKPRRSK 

      1750       1760       1770       1780       1790       1800 
KAESEGPAQP CPGPPKLVPS ADLKAPHSMV AAFDYNPQES SPNMDVEAEL PFRAGDVITV 

      1810       1820       1830       1840       1850 
FGGMDDDGFY YGELNGQRGL VPSNFLEGPG PEAGGLDREP RTPQAESQRT RRRRVQC 

« Hide

Isoform 2 [UniParc].

Checksum: 8FD6E4FE89AA091F
Show »

FASTA1,797193,499
Isoform 3 [UniParc].

Checksum: 5034E93B8DB0E907
Show »

FASTA1,907205,050

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF039571 mRNA. Translation: AAD11957.1.
AB014512 mRNA. Translation: BAA31587.2. Different initiation.
BC031401 mRNA. Translation: AAH31401.1.
CCDSCCDS11605.1. [O95153-1]
CCDS45742.1. [O95153-2]
PIRT00391.
RefSeqNP_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]
UniGeneHs.112499.

3D structure databases

ProteinModelPortalO95153.
SMRO95153. Positions 650-740, 791-871, 966-1095, 1623-1694, 1769-1834.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114680. 3 interactions.
IntActO95153. 3 interactions.
MINTMINT-4132417.
STRING9606.ENSP00000345824.

Chemistry

BindingDBO95153.

PTM databases

PhosphoSiteO95153.

Proteomic databases

PaxDbO95153.
PRIDEO95153.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000268893; ENSP00000268893; ENSG00000005379. [O95153-2]
ENST00000343736; ENSP00000345824; ENSG00000005379. [O95153-1]
ENST00000355701; ENSP00000347929; ENSG00000005379. [O95153-3]
ENST00000581675; ENSP00000462518; ENSG00000005379.
GeneID9256.
KEGGhsa:9256.
UCSCuc002ivx.5. human. [O95153-1]
uc010dcs.4. human. [O95153-2]

Organism-specific databases

CTD9256.
GeneCardsGC17M056379.
H-InvDBHIX0014027.
HGNCHGNC:16831. BZRAP1.
HPAHPA024662.
HPA025244.
MIM610764. gene.
neXtProtNX_O95153.
PharmGKBPA128394545.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG327664.
HOGENOMHOG000139176.
HOVERGENHBG056664.
OMAMEPWALP.
OrthoDBEOG76738Z.
PhylomeDBO95153.
TreeFamTF316230.

Gene expression databases

BgeeO95153.
CleanExHS_BZRAP1.
HS_RBP1.
GenevestigatorO95153.

Family and domain databases

InterProIPR003961. Fibronectin_type3.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamPF07653. SH3_2. 2 hits.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTSM00060. FN3. 3 hits.
SM00326. SH3. 3 hits.
[Graphical view]
SUPFAMSSF49265. SSF49265. 2 hits.
SSF50044. SSF50044. 3 hits.
PROSITEPS50853. FN3. 3 hits.
PS50002. SH3. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBZRAP1. human.
GenomeRNAi9256.
NextBio34699.
PMAP-CutDBO95153.
PROO95153.
SOURCESearch...

Entry information

Entry nameRIMB1_HUMAN
AccessionPrimary (citable) accession number: O95153
Secondary accession number(s): O75111, Q8N5W3
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM