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Q86UR5

- RIMS1_HUMAN

UniProt

Q86UR5 - RIMS1_HUMAN

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Protein

Regulating synaptic membrane exocytosis protein 1

Gene

RIMS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Rab effector involved in exocytosis. May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri110 – 17061FYVE-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. poly(A) RNA binding Source: UniProtKB
  3. Rab GTPase binding Source: ParkinsonsUK-UCL
  4. small GTPase regulator activity Source: UniProtKB

GO - Biological processi

  1. calcium ion-dependent exocytosis Source: UniProtKB
  2. calcium ion-dependent exocytosis of neurotransmitter Source: Ensembl
  3. glutamate secretion Source: Reactome
  4. intracellular protein transport Source: InterPro
  5. membrane fusion Source: UniProtKB
  6. neurotransmitter secretion Source: Reactome
  7. positive regulation of excitatory postsynaptic membrane potential Source: ParkinsonsUK-UCL
  8. positive regulation of gene expression Source: ParkinsonsUK-UCL
  9. positive regulation of inhibitory postsynaptic membrane potential Source: ParkinsonsUK-UCL
  10. protein complex assembly Source: UniProtKB
  11. regulated secretory pathway Source: UniProtKB
  12. regulation of catalytic activity Source: GOC
  13. regulation of long-term neuronal synaptic plasticity Source: Ensembl
  14. regulation of neurotransmitter secretion Source: ParkinsonsUK-UCL
  15. response to stimulus Source: UniProtKB-KW
  16. secretion Source: UniProtKB
  17. synaptic transmission Source: Reactome
  18. synaptic vesicle exocytosis Source: UniProtKB
  19. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Exocytosis, Neurotransmitter transport, Sensory transduction, Transport, Vision

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_12591. Glutamate Neurotransmitter Release Cycle.
REACT_15293. Dopamine Neurotransmitter Release Cycle.
REACT_15309. Acetylcholine Neurotransmitter Release Cycle.
REACT_15418. Norepinephrine Neurotransmitter Release Cycle.
REACT_15425. Serotonin Neurotransmitter Release Cycle.
REACT_23947. GABA synthesis, release, reuptake and degradation.

Names & Taxonomyi

Protein namesi
Recommended name:
Regulating synaptic membrane exocytosis protein 1
Alternative name(s):
Rab-3-interacting molecule 1
Short name:
RIM 1
Rab-3-interacting protein 2
Gene namesi
Name:RIMS1
Synonyms:KIAA0340, RAB3IP2, RIM1
ORF Names:Nbla00761
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:17282. RIMS1.

Subcellular locationi

Cell membrane By similarity; Peripheral membrane protein By similarity. Cell junctionsynapse By similarity. Cell junctionsynapsepresynaptic cell membrane By similarity; Peripheral membrane protein By similarity

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. plasma membrane Source: ParkinsonsUK-UCL
  3. presynaptic active zone Source: ParkinsonsUK-UCL
  4. presynaptic membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.1 Publication
Note: The disease may be caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti820 – 8201R → H in CORD7. 1 Publication
VAR_016804

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi796 – 7972RR → AA: Abolishes interaction with SYT1 and CACNA1B. 1 Publication
Mutagenesisi1591 – 15922KK → AA: Abolishes interaction with SYT1 and CACNA1B. 1 Publication

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation

Organism-specific databases

MIMi603649. phenotype.
Orphaneti1872. Cone rod dystrophy.
PharmGKBiPA38220.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16921692Regulating synaptic membrane exocytosis protein 1PRO_0000190198Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1677 – 16771Phosphoserine1 Publication
Modified residuei1680 – 16801Phosphoserine1 Publication
Modified residuei1683 – 16831Phosphoserine1 Publication
Modified residuei1692 – 16921Phosphoserine1 Publication

Post-translational modificationi

Phosphorylated by BRSK1.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ86UR5.
PaxDbiQ86UR5.
PRIDEiQ86UR5.

PTM databases

PhosphoSiteiQ86UR5.

Expressioni

Tissue specificityi

Detected in brain and retina.

Gene expression databases

BgeeiQ86UR5.
ExpressionAtlasiQ86UR5. baseline and differential.
GenevestigatoriQ86UR5.

Organism-specific databases

HPAiHPA039297.

Interactioni

Subunit structurei

Binds RAB3A, RAB3B and RAB3D that have been activated by GTP-binding. Interacts with RAB3C, RAB10, RAB26 AND RAB37. Binds UNC13A. Interacts with BZRAP1/RIMBP1 and RIMBP2. Interacts with PPFIA3 and PPFIA4. Interacts with ERC1 (By similarity). Binds SNAP25, SYT1 and CACNA1B. Interaction with SYT1 is enhanced by calcium ions. Interaction with SNAP25 is weaker in the presence of calcium ions.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ABL1P005192EBI-1043236,EBI-375543

Protein-protein interaction databases

BioGridi116646. 13 interactions.
IntActiQ86UR5. 5 interactions.
MINTiMINT-2808819.

Structurei

Secondary structure

1
1692
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi585 – 5895
Beta strandi591 – 60212
Beta strandi609 – 6113
Beta strandi616 – 62510
Beta strandi629 – 63810
Helixi643 – 6464
Beta strandi655 – 6617
Helixi669 – 67810
Helixi679 – 6813
Beta strandi685 – 6917

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CSSNMR-A585-692[»]
ProteinModelPortaliQ86UR5.
SMRiQ86UR5. Positions 113-170, 583-691, 745-871, 1524-1671.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ86UR5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini22 – 182161RabBDPROSITE-ProRule annotationAdd
BLAST
Domaini605 – 69187PDZPROSITE-ProRule annotationAdd
BLAST
Domaini744 – 850107C2 1PROSITE-ProRule annotationAdd
BLAST
Domaini1538 – 1640103C2 2PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1336 – 140267Ser-richAdd
BLAST

Sequence similaritiesi

Contains 2 C2 domains.PROSITE-ProRule annotation
Contains 1 FYVE-type zinc finger.PROSITE-ProRule annotation
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation
Contains 1 RabBD (Rab-binding) domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri110 – 17061FYVE-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG286957.
GeneTreeiENSGT00550000074588.
HOGENOMiHOG000082403.
HOVERGENiHBG058147.
InParanoidiQ86UR5.
KOiK15291.
OMAiERKKTPG.
OrthoDBiEOG7BGHJV.
PhylomeDBiQ86UR5.
TreeFamiTF321703.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
2.60.40.150. 2 hits.
3.30.40.10. 1 hit.
InterProiIPR000008. C2_dom.
IPR001478. PDZ.
IPR017455. Znf_FYVE-rel.
IPR010911. Znf_FYVE-typ.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF00168. C2. 2 hits.
PF02318. FYVE_2. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 2 hits.
SM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
SSF50156. SSF50156. 1 hit.
SSF57903. SSF57903. 2 hits.
PROSITEiPS50004. C2. 2 hits.
PS50106. PDZ. 1 hit.
PS50916. RABBD. 1 hit.
PS50178. ZF_FYVE. 1 hit.
[Graphical view]

Sequences (13)i

Sequence statusi: Complete.

This entry describes 13 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q86UR5-1) [UniParc]FASTAAdd to Basket

Also known as: RIM1 alpha

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
MSSAVGPRGP RPPTVPPPMQ ELPDLSHLTE EERNIIMAVM DRQKEEEEKE
60 70 80 90 100
EAMLKCVVRD MAKPAACKTP RNAENQPHQP SPRLHQQFES YKEQVRKIGE
110 120 130 140 150
EARRYQGEHK DDAPTCGICH KTKFADGCGH LCSYCRTKFC ARCGGRVSLR
160 170 180 190 200
SNNEDKVVMW VCNLCRKQQE ILTKSGAWFF GSGPQQTSQD GTLSDTATGA
210 220 230 240 250
GSEVPREKKA RLQERSRSQT PLSTAAASSQ DAAPPSAPPD RSKGAEPSQQ
260 270 280 290 300
ALGPEQKQAS SRSRSEPPRE RKKTPGLSEQ NGKGALKSER KRVPKTSAQP
310 320 330 340 350
VEGAVEERER KERRESRRLE KGRSQDYPDT PEKRDEGKAA DEEKQRKEED
360 370 380 390 400
YQTRYRSDPN LARYPVKPPP EEQQMRMHAR VSRARHERRH SDVALPRTEA
410 420 430 440 450
GAALPEGKAG KRAPAAARAS PPDSPRAYSA ERTAETRAPG AKQLTNHSPP
460 470 480 490 500
APRHGPVPAE APELKAQEPL RKQSRLDPSS AVLMRKAKRE KVETMLRNDS
510 520 530 540 550
LSSDQSESVR PSPPKPHRSK RGGKKRQMSV SSSEEEGVST PEYTSCEDVE
560 570 580 590 600
LESESVSEKG DLDYYWLDPA TWHSRETSPI SSHPVTWQPS KEGDRLIGRV
610 620 630 640 650
ILNKRTTMPK DSGALLGLKV VGGKMTDLGR LGAFITKVKK GSLADVVGHL
660 670 680 690 700
RAGDEVLEWN GKPLPGATNE EVYNIILESK SEPQVEIIVS RPIGDIPRIP
710 720 730 740 750
ESSHPPLESS SSSFESQKME RPSISVISPT SPGALKDAPQ VLPGQLSVKL
760 770 780 790 800
WYDKVGHQLI VNVLQATDLP ARVDGRPRNP YVKMYFLPDR SDKSKRRTKT
810 820 830 840 850
VKKILEPKWN QTFVYSHVHR RDFRERMLEI TVWDQPRVQE EESEFLGEIL
860 870 880 890 900
IELETALLDD EPHWYKLQTH DESSLPLPQP SPFMPRRHIH GESSSKKLQR
910 920 930 940 950
SQRISDSDIS DYEVDDGIGV VPPVGYRSSA RESKSTTLTV PEQQRTTHHR
960 970 980 990 1000
SRSVSPHRGN DQGKPRSRLP NVPLQRSLDE IHPTRRSRSP TRHHDASRSP
1010 1020 1030 1040 1050
VDHRTRDVDS QYLSEQDSEL LMLPRAKRGR SAECLHTTRH LVRHYKTLPP
1060 1070 1080 1090 1100
KMPLLQSSSH WNIYSSILPA HTKTKSVTRQ DISLHHECFN STVLRFTDEI
1110 1120 1130 1140 1150
LVSELQPFLD RARSASTNCL RPDTSLHSPE RERGRWSPSL DRRRPPSPRI
1160 1170 1180 1190 1200
QIQHASPEND RHSRKSERSS IQKQTRKGTA SDAERVLPTC LSRRGHAAPR
1210 1220 1230 1240 1250
ATDQPVIRGK HPARSRSSEH SSIRTLCSMH HLVPGGSAPP SPLLTRMHRQ
1260 1270 1280 1290 1300
RSPTQSPPAD TSFSSRRGRQ LPQVPVRSGS IEQASLVVEE RTRQMKMKVH
1310 1320 1330 1340 1350
RFKQTTGSGS SQELDREQYS KYNIHKDQYR SCDNVSAKSS DSDVSDVSAI
1360 1370 1380 1390 1400
SRTSSASRLS STSFMSEQSE RPRGRISSFT PKMQGRRMGT SGRSIMKSTS
1410 1420 1430 1440 1450
VSGEMYTLEH NDGSQSDTAV GTVGAGGKKR RSSLSAKVVA IVSRRSRSTS
1460 1470 1480 1490 1500
QLSQTESGHK KLKSTIQRST ETGMAAEMRK MVRQPSREST DGSINSYSSE
1510 1520 1530 1540 1550
GNLIFPGVRL GADSQFSDFL DGLGPAQLVG RQTLATPAMG DIQIGMEDKK
1560 1570 1580 1590 1600
GQLEVEVIRA RSLTQKPGSK STPAPYVKVY LLENGACIAK KKTRIARKTL
1610 1620 1630 1640 1650
DPLYQQSLVF DESPQGKVLQ VIVWGDYGRM DHKCFMGVAQ ILLEELDLSS
1660 1670 1680 1690
MVIGWYKLFP PSSLVDPTLT PLTRRASQSS LESSTGPPCI RS
Length:1,692
Mass (Da):189,073
Last modified:June 1, 2003 - v1
Checksum:i0A96642DC832C15E
GO
Isoform 2 (identifier: Q86UR5-2) [UniParc]FASTAAdd to Basket

Also known as: RIM short form

The sequence of this isoform differs from the canonical sequence as follows:
     1040-1692: Missing.

Note: May be due to intron retention.

Show »
Length:1,039
Mass (Da):116,704
Checksum:iEF56FBC20E5A629E
GO
Isoform 3 (identifier: Q86UR5-3) [UniParc]FASTAAdd to Basket

Also known as: RIM long form, Rab3 interacting protein variant 2

The sequence of this isoform differs from the canonical sequence as follows:
     1039-1102: Missing.
     1133-1245: Missing.
     1540-1573: Missing.

Show »
Length:1,481
Mass (Da):165,360
Checksum:iF34E4B8FAF1D35FD
GO
Isoform 4 (identifier: Q86UR5-4) [UniParc]FASTAAdd to Basket

Also known as: Rab3 interacting protein variant 1

The sequence of this isoform differs from the canonical sequence as follows:
     1065-1102: Missing.
     1133-1245: Missing.

Show »
Length:1,541
Mass (Da):172,224
Checksum:i98A7006DC8206CB3
GO
Isoform 5 (identifier: Q86UR5-5) [UniParc]FASTAAdd to Basket

Also known as: Rab3 interacting protein variant 3

The sequence of this isoform differs from the canonical sequence as follows:
     924-924: Missing.
     1038-1244: Missing.
     1377-1385: Missing.

Show »
Length:1,475
Mass (Da):164,580
Checksum:i8192B1AF38A1661B
GO
Isoform 6 (identifier: Q86UR5-6) [UniParc]FASTAAdd to Basket

Also known as: Rab3 interacting protein variant 4

The sequence of this isoform differs from the canonical sequence as follows:
     1039-1102: Missing.
     1161-1245: Missing.
     1284-1455: Missing.

Show »
Length:1,371
Mass (Da):153,500
Checksum:i815C71ECFEF6D8C5
GO
Isoform 7 (identifier: Q86UR5-7) [UniParc]FASTAAdd to Basket

Also known as: Rab3 interacting protein variant 5

The sequence of this isoform differs from the canonical sequence as follows:
     924-924: Missing.
     1039-1102: Missing.
     1133-1245: Missing.
     1284-1455: Missing.

Show »
Length:1,342
Mass (Da):150,109
Checksum:i87E88E425651F382
GO
Isoform 8 (identifier: Q86UR5-8) [UniParc]FASTAAdd to Basket

Also known as: Rab3 interacting protein variant 6

The sequence of this isoform differs from the canonical sequence as follows:
     924-924: Missing.
     1018-1245: Missing.
     1284-1455: Missing.

Show »
Length:1,291
Mass (Da):144,361
Checksum:i8D52C8AD83A640AD
GO
Isoform 9 (identifier: Q86UR5-9) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: MSSAVGPRGPRPPTVPPP → MFAGFLQFLLLHTLHSGT
     19-559: Missing.
     1039-1102: Missing.
     1133-1160: Missing.
     1185-1245: Missing.
     1284-1455: Missing.

Note: No experimental confirmation available.

Show »
Length:826
Mass (Da):92,731
Checksum:iC20C62181371B83B
GO
Isoform 10 (identifier: Q86UR5-10) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-607: Missing.
     1039-1102: Missing.
     1133-1160: Missing.
     1185-1245: Missing.
     1284-1455: Missing.

Note: No experimental confirmation available.

Show »
Length:760
Mass (Da):85,152
Checksum:i1BC5B3BB0B105D6B
GO
Isoform 11 (identifier: Q86UR5-11) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1473: Missing.

Note: No experimental confirmation available.

Show »
Length:219
Mass (Da):24,013
Checksum:i9906E3592B6D9848
GO
Isoform 12 (identifier: Q86UR5-12) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-559: MSSAVGPRGP...ELESESVSEK → MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVA
     924-924: Missing.
     1039-1102: Missing.
     1133-1160: Missing.
     1185-1245: Missing.

Show »
Length:1,012
Mass (Da):112,988
Checksum:iA6F0E2D8AFE8B426
GO
Isoform 13 (identifier: Q86UR5-13) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-559: MSSAVGPRGP...ELESESVSEK → MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVA
     1039-1102: Missing.
     1133-1245: Missing.
     1284-1455: Missing.

Show »
Length:817
Mass (Da):91,530
Checksum:i97107E7A7F961EC8
GO

Sequence cautioni

The sequence BAA20798.1 differs from that shown. Reason: Erroneous initiation.
The sequence CAI39600.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI42135.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti157 – 1571V → Y in CAI16961. (PubMed:14574404)Curated
Sequence conflicti484 – 49411Missing in BAB87121. 1 PublicationCuratedAdd
BLAST
Sequence conflicti484 – 49411Missing in BAB87242. 1 PublicationCuratedAdd
BLAST
Sequence conflicti484 – 49411Missing in BAA20798. (PubMed:9205841)CuratedAdd
BLAST
Sequence conflicti484 – 49411Missing in AAI51854. (PubMed:15489334)CuratedAdd
BLAST
Sequence conflicti484 – 49411Missing in AAI52436. (PubMed:15489334)CuratedAdd
BLAST
Sequence conflicti1272 – 12721P → S in BAH11945. (PubMed:14702039)Curated
Sequence conflicti1606 – 16061Q → R in BAH11906. (PubMed:14702039)Curated
Sequence conflicti1609 – 16091V → A in BAH13358. (PubMed:14702039)Curated
Sequence conflicti1662 – 16621S → P in AK309185. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti820 – 8201R → H in CORD7. 1 Publication
VAR_016804

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 14731473Missing in isoform 11. 1 PublicationVSP_045485Add
BLAST
Alternative sequencei1 – 607607Missing in isoform 10. 1 PublicationVSP_045486Add
BLAST
Alternative sequencei1 – 559559MSSAV…SVSEK → MCAPGIHVSSEGWEEVRSVD SEEGTIEARRAVA in isoform 12 and isoform 13. 1 PublicationVSP_046796Add
BLAST
Alternative sequencei1 – 1818MSSAV…TVPPP → MFAGFLQFLLLHTLHSGT in isoform 9. 1 PublicationVSP_043177Add
BLAST
Alternative sequencei19 – 559541Missing in isoform 9. 1 PublicationVSP_043178Add
BLAST
Alternative sequencei924 – 9241Missing in isoform 5, isoform 7, isoform 8 and isoform 12. 2 PublicationsVSP_008161
Alternative sequencei1018 – 1245228Missing in isoform 8. 1 PublicationVSP_008162Add
BLAST
Alternative sequencei1038 – 1244207Missing in isoform 5. 1 PublicationVSP_008163Add
BLAST
Alternative sequencei1039 – 110264Missing in isoform 3, isoform 6, isoform 7, isoform 9, isoform 10, isoform 12 and isoform 13. 3 PublicationsVSP_008164Add
BLAST
Alternative sequencei1040 – 1692653Missing in isoform 2. 3 PublicationsVSP_008165Add
BLAST
Alternative sequencei1065 – 110238Missing in isoform 4. 1 PublicationVSP_008166Add
BLAST
Alternative sequencei1133 – 1245113Missing in isoform 3, isoform 4, isoform 7 and isoform 13. 3 PublicationsVSP_008167Add
BLAST
Alternative sequencei1133 – 116028Missing in isoform 9, isoform 10 and isoform 12. 1 PublicationVSP_043179Add
BLAST
Alternative sequencei1161 – 124585Missing in isoform 6. 1 PublicationVSP_008168Add
BLAST
Alternative sequencei1185 – 124561Missing in isoform 9, isoform 10 and isoform 12. 1 PublicationVSP_043180Add
BLAST
Alternative sequencei1284 – 1455172Missing in isoform 6, isoform 7, isoform 8, isoform 9, isoform 10 and isoform 13. 2 PublicationsVSP_008169Add
BLAST
Alternative sequencei1377 – 13859Missing in isoform 5. 1 PublicationVSP_008170
Alternative sequencei1540 – 157334Missing in isoform 3. 2 PublicationsVSP_008171Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY190519 mRNA. Translation: AAO38848.1.
AB045726 mRNA. Translation: BAB87121.1.
AB051866 mRNA. Translation: BAB87242.1.
AB002338 mRNA. Translation: BAA20798.1. Different initiation.
AK296303 mRNA. Translation: BAH12309.1.
AK294868 mRNA. Translation: BAH11906.1.
AK295001 mRNA. Translation: BAH11945.1.
AK300853 mRNA. Translation: BAH13358.1.
AK309185 mRNA. No translation available.
AL160405 Genomic DNA. No translation available.
AL590011
, AL034373, AL390056, AL445256 Genomic DNA. Translation: CAI16961.1.
AL034373
, AL390056, AL445256, AL590011 Genomic DNA. Translation: CAI20558.1.
AL390056
, AL034373, AL445256, AL590011 Genomic DNA. Translation: CAI21554.1.
AL445256
, AL034373, AL390056, AL590011 Genomic DNA. Translation: CAI39598.1.
AL445256, AL035633 Genomic DNA. Translation: CAI39600.1. Sequence problems.
AL445256, AL035633 Genomic DNA. Translation: CAI39604.1.
AL035633, AL445256 Genomic DNA. Translation: CAI42135.1. Sequence problems.
AL035633, AL445256 Genomic DNA. Translation: CAI42139.1.
BC151853 mRNA. Translation: AAI51854.1.
BC152435 mRNA. Translation: AAI52436.1.
AF263305 mRNA. Translation: AAG23162.1.
AF263306 mRNA. Translation: AAG23163.1.
AF263307 mRNA. Translation: AAG23164.1.
AF263308 mRNA. Translation: AAG23165.1.
AF263309 mRNA. Translation: AAG23166.1.
AF263310 mRNA. Translation: AAG23167.1.
CCDSiCCDS47449.1. [Q86UR5-1]
CCDS55029.1. [Q86UR5-13]
CCDS55030.1. [Q86UR5-12]
CCDS55031.1. [Q86UR5-9]
CCDS55032.1. [Q86UR5-10]
CCDS55033.1. [Q86UR5-11]
RefSeqiNP_001161879.1. NM_001168407.1. [Q86UR5-12]
NP_001161880.1. NM_001168408.1. [Q86UR5-13]
NP_001161881.1. NM_001168409.1. [Q86UR5-10]
NP_001161882.1. NM_001168410.1. [Q86UR5-9]
NP_001161883.1. NM_001168411.1. [Q86UR5-11]
NP_055804.2. NM_014989.5. [Q86UR5-1]
XP_006715451.1. XM_006715388.1. [Q86UR5-5]
UniGeneiHs.485729.

Genome annotation databases

EnsembliENST00000264839; ENSP00000264839; ENSG00000079841. [Q86UR5-4]
ENST00000370420; ENSP00000359448; ENSG00000079841.
ENST00000401910; ENSP00000385649; ENSG00000079841. [Q86UR5-12]
ENST00000414192; ENSP00000402273; ENSG00000079841. [Q86UR5-11]
ENST00000425662; ENSP00000411235; ENSG00000079841. [Q86UR5-10]
ENST00000491071; ENSP00000430101; ENSG00000079841. [Q86UR5-3]
ENST00000517827; ENSP00000428367; ENSG00000079841. [Q86UR5-9]
ENST00000517960; ENSP00000429959; ENSG00000079841. [Q86UR5-5]
ENST00000518273; ENSP00000430408; ENSG00000079841. [Q86UR5-6]
ENST00000520567; ENSP00000430502; ENSG00000079841. [Q86UR5-7]
ENST00000521978; ENSP00000428417; ENSG00000079841. [Q86UR5-1]
ENST00000522291; ENSP00000430932; ENSG00000079841. [Q86UR5-8]
ENST00000523963; ENSP00000428328; ENSG00000079841. [Q86UR5-13]
GeneIDi22999.
KEGGihsa:22999.
UCSCiuc003pga.4. human. [Q86UR5-1]
uc003pgb.4. human. [Q86UR5-2]
uc003pgc.3. human. [Q86UR5-3]
uc010kas.1. human. [Q86UR5-9]

Polymorphism databases

DMDMi34395763.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY190519 mRNA. Translation: AAO38848.1 .
AB045726 mRNA. Translation: BAB87121.1 .
AB051866 mRNA. Translation: BAB87242.1 .
AB002338 mRNA. Translation: BAA20798.1 . Different initiation.
AK296303 mRNA. Translation: BAH12309.1 .
AK294868 mRNA. Translation: BAH11906.1 .
AK295001 mRNA. Translation: BAH11945.1 .
AK300853 mRNA. Translation: BAH13358.1 .
AK309185 mRNA. No translation available.
AL160405 Genomic DNA. No translation available.
AL590011
, AL034373 , AL390056 , AL445256 Genomic DNA. Translation: CAI16961.1 .
AL034373
, AL390056 , AL445256 , AL590011 Genomic DNA. Translation: CAI20558.1 .
AL390056
, AL034373 , AL445256 , AL590011 Genomic DNA. Translation: CAI21554.1 .
AL445256
, AL034373 , AL390056 , AL590011 Genomic DNA. Translation: CAI39598.1 .
AL445256 , AL035633 Genomic DNA. Translation: CAI39600.1 . Sequence problems.
AL445256 , AL035633 Genomic DNA. Translation: CAI39604.1 .
AL035633 , AL445256 Genomic DNA. Translation: CAI42135.1 . Sequence problems.
AL035633 , AL445256 Genomic DNA. Translation: CAI42139.1 .
BC151853 mRNA. Translation: AAI51854.1 .
BC152435 mRNA. Translation: AAI52436.1 .
AF263305 mRNA. Translation: AAG23162.1 .
AF263306 mRNA. Translation: AAG23163.1 .
AF263307 mRNA. Translation: AAG23164.1 .
AF263308 mRNA. Translation: AAG23165.1 .
AF263309 mRNA. Translation: AAG23166.1 .
AF263310 mRNA. Translation: AAG23167.1 .
CCDSi CCDS47449.1. [Q86UR5-1 ]
CCDS55029.1. [Q86UR5-13 ]
CCDS55030.1. [Q86UR5-12 ]
CCDS55031.1. [Q86UR5-9 ]
CCDS55032.1. [Q86UR5-10 ]
CCDS55033.1. [Q86UR5-11 ]
RefSeqi NP_001161879.1. NM_001168407.1. [Q86UR5-12 ]
NP_001161880.1. NM_001168408.1. [Q86UR5-13 ]
NP_001161881.1. NM_001168409.1. [Q86UR5-10 ]
NP_001161882.1. NM_001168410.1. [Q86UR5-9 ]
NP_001161883.1. NM_001168411.1. [Q86UR5-11 ]
NP_055804.2. NM_014989.5. [Q86UR5-1 ]
XP_006715451.1. XM_006715388.1. [Q86UR5-5 ]
UniGenei Hs.485729.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2CSS NMR - A 585-692 [» ]
ProteinModelPortali Q86UR5.
SMRi Q86UR5. Positions 113-170, 583-691, 745-871, 1524-1671.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116646. 13 interactions.
IntActi Q86UR5. 5 interactions.
MINTi MINT-2808819.

PTM databases

PhosphoSitei Q86UR5.

Polymorphism databases

DMDMi 34395763.

Proteomic databases

MaxQBi Q86UR5.
PaxDbi Q86UR5.
PRIDEi Q86UR5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264839 ; ENSP00000264839 ; ENSG00000079841 . [Q86UR5-4 ]
ENST00000370420 ; ENSP00000359448 ; ENSG00000079841 .
ENST00000401910 ; ENSP00000385649 ; ENSG00000079841 . [Q86UR5-12 ]
ENST00000414192 ; ENSP00000402273 ; ENSG00000079841 . [Q86UR5-11 ]
ENST00000425662 ; ENSP00000411235 ; ENSG00000079841 . [Q86UR5-10 ]
ENST00000491071 ; ENSP00000430101 ; ENSG00000079841 . [Q86UR5-3 ]
ENST00000517827 ; ENSP00000428367 ; ENSG00000079841 . [Q86UR5-9 ]
ENST00000517960 ; ENSP00000429959 ; ENSG00000079841 . [Q86UR5-5 ]
ENST00000518273 ; ENSP00000430408 ; ENSG00000079841 . [Q86UR5-6 ]
ENST00000520567 ; ENSP00000430502 ; ENSG00000079841 . [Q86UR5-7 ]
ENST00000521978 ; ENSP00000428417 ; ENSG00000079841 . [Q86UR5-1 ]
ENST00000522291 ; ENSP00000430932 ; ENSG00000079841 . [Q86UR5-8 ]
ENST00000523963 ; ENSP00000428328 ; ENSG00000079841 . [Q86UR5-13 ]
GeneIDi 22999.
KEGGi hsa:22999.
UCSCi uc003pga.4. human. [Q86UR5-1 ]
uc003pgb.4. human. [Q86UR5-2 ]
uc003pgc.3. human. [Q86UR5-3 ]
uc010kas.1. human. [Q86UR5-9 ]

Organism-specific databases

CTDi 22999.
GeneCardsi GC06P072653.
HGNCi HGNC:17282. RIMS1.
HPAi HPA039297.
MIMi 603649. phenotype.
606629. gene.
neXtProti NX_Q86UR5.
Orphaneti 1872. Cone rod dystrophy.
PharmGKBi PA38220.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG286957.
GeneTreei ENSGT00550000074588.
HOGENOMi HOG000082403.
HOVERGENi HBG058147.
InParanoidi Q86UR5.
KOi K15291.
OMAi ERKKTPG.
OrthoDBi EOG7BGHJV.
PhylomeDBi Q86UR5.
TreeFami TF321703.

Enzyme and pathway databases

Reactomei REACT_12591. Glutamate Neurotransmitter Release Cycle.
REACT_15293. Dopamine Neurotransmitter Release Cycle.
REACT_15309. Acetylcholine Neurotransmitter Release Cycle.
REACT_15418. Norepinephrine Neurotransmitter Release Cycle.
REACT_15425. Serotonin Neurotransmitter Release Cycle.
REACT_23947. GABA synthesis, release, reuptake and degradation.

Miscellaneous databases

ChiTaRSi RIMS1. human.
EvolutionaryTracei Q86UR5.
GeneWikii RIMS1.
GenomeRNAii 22999.
NextBioi 43896.
PROi Q86UR5.
SOURCEi Search...

Gene expression databases

Bgeei Q86UR5.
ExpressionAtlasi Q86UR5. baseline and differential.
Genevestigatori Q86UR5.

Family and domain databases

Gene3Di 2.30.42.10. 1 hit.
2.60.40.150. 2 hits.
3.30.40.10. 1 hit.
InterProi IPR000008. C2_dom.
IPR001478. PDZ.
IPR017455. Znf_FYVE-rel.
IPR010911. Znf_FYVE-typ.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
Pfami PF00168. C2. 2 hits.
PF02318. FYVE_2. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view ]
SMARTi SM00239. C2. 2 hits.
SM00228. PDZ. 1 hit.
[Graphical view ]
SUPFAMi SSF49562. SSF49562. 2 hits.
SSF50156. SSF50156. 1 hit.
SSF57903. SSF57903. 2 hits.
PROSITEi PS50004. C2. 2 hits.
PS50106. PDZ. 1 hit.
PS50916. RABBD. 1 hit.
PS50178. ZF_FYVE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)."
    Johnson S., Halford S., Morris A.G., Patel R.J., Wilkie S.E., Hardcastle A.J., Moore A.T., Zhang K., Hunt D.M.
    Genomics 81:304-314(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANT CORD7 HIS-820.
  2. "Identification of the alternative form of human RIM."
    Aoyama M., Asai K., Shishikura T., Ohira M., Inuzuka H., Morohashi A., Kato T., Nakagawara A.
    Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3).
    Tissue: Neuroblastoma.
  3. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 9; 10; 11; 12 AND 13).
    Tissue: Brain, Small intestine and Thalamus.
  5. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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] (ISOFORM 2).
  7. "Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin."
    Coppola T., Magnin-Luethi S., Perret-Menoud V., Gattesco S., Schiavo G., Regazzi R.
    J. Biol. Chem. 276:32756-32762(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 776-1692 (ISOFORMS 3; 4; 5; 6; 7 AND 8), MUTAGENESIS OF 796-LYS-LYS-797 AND 1591-ARG-ARG-1592, INTERACTION WITH SNAP25; SYT1 AND CACNA1B.
    Tissue: Brain.
  8. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1677; SER-1680; SER-1683 AND SER-1692, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Solution structure of the PDZ domain of human KIAA0340 protein."
    RIKEN structural genomics initiative (RSGI)
    Submitted (NOV-2005) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 585-694.

Entry informationi

Entry nameiRIMS1_HUMAN
AccessioniPrimary (citable) accession number: Q86UR5
Secondary accession number(s): A7MBN6
, B7Z2M0, B7Z2Q9, B7Z3S3, B7Z6S2, E7EX08, E9PCB7, E9PCZ1, E9PF48, E9PHF5, E9PHR1, O15048, Q5JY21, Q5JY25, Q5SZK1, Q8TDY9, Q8TDZ5, Q9HBA1, Q9HBA2, Q9HBA3, Q9HBA4, Q9HBA5, Q9HBA6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: June 1, 2003
Last modified: October 29, 2014
This is version 132 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3