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P81274

- GPSM2_HUMAN

UniProt

P81274 - GPSM2_HUMAN

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Protein

G-protein-signaling modulator 2

Gene

GPSM2

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

Functioni

Plays an important role in spindle pole orientation. Interacts and contributes to the functional activity of G(i) alpha proteins. Acts to stabilize the apical complex during neuroblast divisions.1 Publication

GO - Molecular functioni

  1. GTPase regulator activity Source: InterPro
  2. identical protein binding Source: IntAct

GO - Biological processi

  1. establishment of mitotic spindle orientation Source: Ensembl
  2. G-protein coupled receptor signaling pathway Source: ProtInc
  3. lung epithelial cell differentiation Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
G-protein-signaling modulator 2
Alternative name(s):
Mosaic protein LGN
Gene namesi
Name:GPSM2
Synonyms:LGN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:29501. GPSM2.

Subcellular locationi

Cytoplasm 1 Publication. Cytoplasmcell cortex 1 Publication
Note: Localizes in the cytoplasm in the interphase and at cell periphery in the metaphase.

GO - Cellular componenti

  1. apical part of cell Source: Ensembl
  2. cytoplasm Source: HPA
  3. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Chudley-McCullough syndrome (CMCS) [MIM:604213]: An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Deafness

Organism-specific databases

MIMi604213. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
314597. Chudley-McCullough syndrome.
PharmGKBiPA134993615.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 684684G-protein-signaling modulator 2PRO_0000106358Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei132 – 1321Phosphoserine; by PKGSequence Analysis
Modified residuei352 – 3521Phosphoserine; by PKGSequence Analysis
Modified residuei408 – 4081Phosphoserine1 Publication
Modified residuei483 – 4831Phosphoserine1 Publication
Modified residuei486 – 4861Phosphothreonine1 Publication
Modified residuei501 – 5011Phosphoserine; by PKCSequence Analysis
Modified residuei541 – 5411Phosphoserine1 Publication
Modified residuei565 – 5651Phosphoserine1 Publication
Modified residuei607 – 6071Phosphoserine; by PKGSequence Analysis

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP81274.
PaxDbiP81274.
PRIDEiP81274.

PTM databases

PhosphoSiteiP81274.

Expressioni

Tissue specificityi

Ubiquitously expressed.

Gene expression databases

BgeeiP81274.
CleanExiHS_GPSM2.
ExpressionAtlasiP81274. baseline and differential.
GenevestigatoriP81274.

Organism-specific databases

HPAiCAB018962.
HPA007327.
HPA008408.

Interactioni

Subunit structurei

Interacts with LLGL2. Interacts with INSC/inscuteable and probably with F2RL2.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself7EBI-618655,EBI-618655
GNAI1P630963EBI-618655,EBI-618639
NUMA1Q149806EBI-618655,EBI-521611

Protein-protein interaction databases

BioGridi118949. 8 interactions.
DIPiDIP-399N.
IntActiP81274. 4 interactions.
MINTiMINT-3023522.
STRINGi9606.ENSP00000264126.

Structurei

Secondary structure

1
684
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi24 – 3613Combined sources
Helixi40 – 5314Combined sources
Helixi58 – 7417Combined sources
Helixi78 – 9417Combined sources
Helixi98 – 11417Combined sources
Helixi118 – 13518Combined sources
Helixi138 – 15720Combined sources
Helixi172 – 19423Combined sources
Helixi198 – 21518Combined sources
Helixi218 – 23417Combined sources
Helixi238 – 25417Combined sources
Helixi258 – 27417Combined sources
Helixi278 – 29417Combined sources
Helixi298 – 31417Combined sources
Helixi318 – 33518Combined sources
Helixi338 – 35417Combined sources
Helixi358 – 37619Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3SF4X-ray2.60A/B/C20-421[»]
ProteinModelPortaliP81274.
SMRiP81274. Positions 20-381, 594-648.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati24 – 5734TPR 1Add
BLAST
Repeati62 – 9534TPR 2Add
BLAST
Repeati102 – 13534TPR 3Add
BLAST
Repeati142 – 18443TPR 4Add
BLAST
Repeati202 – 23534TPR 5Add
BLAST
Repeati242 – 27534TPR 6Add
BLAST
Repeati282 – 31534TPR 7Add
BLAST
Repeati322 – 35534TPR 8Add
BLAST
Domaini489 – 51123GoLoco 1PROSITE-ProRule annotationAdd
BLAST
Domaini544 – 56623GoLoco 2PROSITE-ProRule annotationAdd
BLAST
Domaini594 – 61623GoLoco 3PROSITE-ProRule annotationAdd
BLAST
Domaini628 – 65023GoLoco 4PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the GPSM family.Curated
Contains 4 GoLoco domains.PROSITE-ProRule annotation
Contains 8 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00530000063126.
HOGENOMiHOG000231543.
HOVERGENiHBG051823.
InParanoidiP81274.
KOiK15837.
OMAiEYYEANL.
OrthoDBiEOG7WHH8W.
PhylomeDBiP81274.
TreeFamiTF328344.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR003109. GoLoco_motif.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF02188. GoLoco. 4 hits.
PF00515. TPR_1. 5 hits.
PF13176. TPR_7. 1 hit.
[Graphical view]
SMARTiSM00390. GoLoco. 4 hits.
SM00028. TPR. 6 hits.
[Graphical view]
PROSITEiPS50877. GOLOCO. 4 hits.
PS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P81274-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEENLISMRE DHSFHVRYRM EASCLELALE GERLCKSGDC RAGVSFFEAA
60 70 80 90 100
VQVGTEDLKT LSAIYSQLGN AYFYLHDYAK ALEYHHHDLT LARTIGDQLG
110 120 130 140 150
EAKASGNLGN TLKVLGNFDE AIVCCQRHLD ISRELNDKVG EARALYNLGN
160 170 180 190 200
VYHAKGKSFG CPGPQDVGEF PEEVRDALQA AVDFYEENLS LVTALGDRAA
210 220 230 240 250
QGRAFGNLGN THYLLGNFRD AVIAHEQRLL IAKEFGDKAA ERRAYSNLGN
260 270 280 290 300
AYIFLGEFET ASEYYKKTLL LARQLKDRAV EAQSCYSLGN TYTLLQDYEK
310 320 330 340 350
AIDYHLKHLA IAQELNDRIG EGRACWSLGN AYTALGNHDQ AMHFAEKHLE
360 370 380 390 400
ISREVGDKSG ELTARLNLSD LQMVLGLSYS TNNSIMSENT EIDSSLNGVR
410 420 430 440 450
PKLGRRHSME NMELMKLTPE KVQNWNSEIL AKQKPLIAKP SAKLLFVNRL
460 470 480 490 500
KGKKYKTNSS TKVLQDASNS IDHRIPNSQR KISADTIGDE GFFDLLSRFQ
510 520 530 540 550
SNRMDDQRCC LQEKNCHTAS TTTSSTPPKM MLKTSSVPVV SPNTDEFLDL
560 570 580 590 600
LASSQSRRLD DQRASFSNLP GLRLTQNSQS VLSHLMTNDN KEADEDFFDI
610 620 630 640 650
LVKCQGSRLD DQRCAPPPAT TKGPTVPDED FFSLILRSQG KRMDEQRVLL
660 670 680
QRDQNRDTDF GLKDFLQNNA LLEFKNSGKK SADH
Length:684
Mass (Da):76,662
Last modified:April 20, 2010 - v3
Checksum:iD007A4765F57CB90
GO

Sequence cautioni

The sequence AAB40385.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH27732.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti400 – 4001R → L in AAB40385. (PubMed:8973305)Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U54999 mRNA. Translation: AAB40385.1. Different initiation.
AB445462 mRNA. Translation: BAH84760.1.
AL449266 Genomic DNA. Translation: CAI14361.1.
CH471122 Genomic DNA. Translation: EAW56340.1.
BC027732 mRNA. Translation: AAH27732.1. Different initiation.
AY136740 mRNA. Translation: AAN01266.1.
CR456786 mRNA. Translation: CAG33067.1.
CCDSiCCDS792.2.
PIRiJC5334. G02540.
RefSeqiNP_037428.3. NM_013296.4.
XP_005270844.1. XM_005270787.1.
XP_006710651.1. XM_006710588.1.
UniGeneiHs.584901.
Hs.658489.

Genome annotation databases

EnsembliENST00000264126; ENSP00000264126; ENSG00000121957.
ENST00000406462; ENSP00000385510; ENSG00000121957.
GeneIDi29899.
KEGGihsa:29899.
UCSCiuc010ovc.2. human.

Polymorphism databases

DMDMi294862507.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U54999 mRNA. Translation: AAB40385.1 . Different initiation.
AB445462 mRNA. Translation: BAH84760.1 .
AL449266 Genomic DNA. Translation: CAI14361.1 .
CH471122 Genomic DNA. Translation: EAW56340.1 .
BC027732 mRNA. Translation: AAH27732.1 . Different initiation.
AY136740 mRNA. Translation: AAN01266.1 .
CR456786 mRNA. Translation: CAG33067.1 .
CCDSi CCDS792.2.
PIRi JC5334. G02540.
RefSeqi NP_037428.3. NM_013296.4.
XP_005270844.1. XM_005270787.1.
XP_006710651.1. XM_006710588.1.
UniGenei Hs.584901.
Hs.658489.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3SF4 X-ray 2.60 A/B/C 20-421 [» ]
ProteinModelPortali P81274.
SMRi P81274. Positions 20-381, 594-648.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118949. 8 interactions.
DIPi DIP-399N.
IntActi P81274. 4 interactions.
MINTi MINT-3023522.
STRINGi 9606.ENSP00000264126.

PTM databases

PhosphoSitei P81274.

Polymorphism databases

DMDMi 294862507.

Proteomic databases

MaxQBi P81274.
PaxDbi P81274.
PRIDEi P81274.

Protocols and materials databases

DNASUi 29899.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264126 ; ENSP00000264126 ; ENSG00000121957 .
ENST00000406462 ; ENSP00000385510 ; ENSG00000121957 .
GeneIDi 29899.
KEGGi hsa:29899.
UCSCi uc010ovc.2. human.

Organism-specific databases

CTDi 29899.
GeneCardsi GC01P109417.
HGNCi HGNC:29501. GPSM2.
HPAi CAB018962.
HPA007327.
HPA008408.
MIMi 604213. phenotype.
609245. gene.
neXtProti NX_P81274.
Orphaneti 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
314597. Chudley-McCullough syndrome.
PharmGKBi PA134993615.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0457.
GeneTreei ENSGT00530000063126.
HOGENOMi HOG000231543.
HOVERGENi HBG051823.
InParanoidi P81274.
KOi K15837.
OMAi EYYEANL.
OrthoDBi EOG7WHH8W.
PhylomeDBi P81274.
TreeFami TF328344.

Miscellaneous databases

GeneWikii GPSM2.
GenomeRNAii 29899.
NextBioi 52462.
PROi P81274.
SOURCEi Search...

Gene expression databases

Bgeei P81274.
CleanExi HS_GPSM2.
ExpressionAtlasi P81274. baseline and differential.
Genevestigatori P81274.

Family and domain databases

Gene3Di 1.25.40.10. 2 hits.
InterProi IPR003109. GoLoco_motif.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view ]
Pfami PF02188. GoLoco. 4 hits.
PF00515. TPR_1. 5 hits.
PF13176. TPR_7. 1 hit.
[Graphical view ]
SMARTi SM00390. GoLoco. 4 hits.
SM00028. TPR. 6 hits.
[Graphical view ]
PROSITEi PS50877. GOLOCO. 4 hits.
PS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and cDNA cloning of a novel human mosaic protein, LGN, based on interaction with G alpha i2."
    Mochizuki N., Cho G., Wen B., Insel P.A.
    Gene 181:39-43(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: B-cell.
  2. "Involvement of C0671 overexpression in breast cancer cell growth."
    Katagiri T., Fukukawa C., Nakamura Y.
    Submitted (JUL-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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].
    Tissue: Muscle.
  6. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
    Puhl H.L. III, Ikeda S.R., Aronstam R.S.
    Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-684.
    Tissue: Brain.
  7. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-684.
  8. "Direct binding of Lgl2 to LGN during mitosis and its requirement for normal cell division."
    Yasumi M., Sakisaka T., Hoshino T., Kimura T., Sakamoto Y., Yamanaka T., Ohno S., Takai Y.
    J. Biol. Chem. 280:6761-6765(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH LLGL2, SUBCELLULAR LOCATION.
    Tissue: Brain.
  9. "Two forms of human Inscuteable-related protein that links Par3 to the Pins homologues LGN and AGS3."
    Izaki T., Kamakura S., Kohjima M., Sumimoto H.
    Biochem. Biophys. Res. Commun. 341:1001-1006(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH INSC.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-483; THR-486 AND SER-541, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82."
    Walsh T., Shahin H., Elkan-Miller T., Lee M.K., Thornton A.M., Roeb W., Abu Rayyan A., Loulus S., Avraham K.B., King M.C., Kanaan M.
    Am. J. Hum. Genet. 87:90-94(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CMCS.
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-408 AND SER-565, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. Cited for: INVOLVEMENT IN CMCS.

Entry informationi

Entry nameiGPSM2_HUMAN
AccessioniPrimary (citable) accession number: P81274
Secondary accession number(s): Q5T1N8, Q6IBL7, Q8N0Z5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: April 20, 2010
Last modified: November 26, 2014
This is version 151 of the entry and version 3 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

Miscellaneous

Dysfunction of LGN is associated with the phenotype of multiple micronuclei due to chromosomal mis-segregation and defect in cell division through mis-localization of mitotic splindle regulator protein NuMA.

Caution

It is uncertain whether Met-1 or Met-8 is the initiator.Curated
Mutations in GPSM2 have been identified in people with profound congenital non-syndromic deafness designated as DFNB82 (PubMed:20602914). Subsequent brain imaging of these individuals has revealed frontal polymicrogyria, abnormal corpus callosum, and gray matter heterotopia, consistent with a diagnosis of Chudley-McCullough syndrome (PubMed:22578326).2 Publications

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3