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P81274

- GPSM2_HUMAN

UniProt

P81274 - GPSM2_HUMAN

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Protein
G-protein-signaling modulator 2
Gene
GPSM2, LGN
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
  3. protein binding Source: UniProtKB

GO - Biological processi

  1. G-protein coupled receptor signaling pathway Source: ProtInc
  2. establishment of mitotic spindle orientation Source: Ensembl
  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. Cytoplasmcell cortex
Note: Localizes in the cytoplasm in the interphase and at cell periphery in the metaphase.1 Publication

GO - Cellular componenti

  1. apical part of cell Source: Ensembl
  2. cell cortex Source: UniProtKB-SubCell
  3. cytoplasm Source: HPA
  4. 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

Keywords - Diseasei

Deafness

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Amino acid modifications

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP81274.
PaxDbiP81274.
PRIDEiP81274.

PTM databases

PhosphoSiteiP81274.

Expressioni

Tissue specificityi

Ubiquitously expressed.

Gene expression databases

ArrayExpressiP81274.
BgeeiP81274.
CleanExiHS_GPSM2.
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

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

3D structure databases

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

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Belongs to the GPSM family.
Contains 4 GoLoco domains.
Contains 8 TPR repeats.

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG0457.
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.
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

MEENLISMRE DHSFHVRYRM EASCLELALE GERLCKSGDC RAGVSFFEAA    50
VQVGTEDLKT LSAIYSQLGN AYFYLHDYAK ALEYHHHDLT LARTIGDQLG 100
EAKASGNLGN TLKVLGNFDE AIVCCQRHLD ISRELNDKVG EARALYNLGN 150
VYHAKGKSFG CPGPQDVGEF PEEVRDALQA AVDFYEENLS LVTALGDRAA 200
QGRAFGNLGN THYLLGNFRD AVIAHEQRLL IAKEFGDKAA ERRAYSNLGN 250
AYIFLGEFET ASEYYKKTLL LARQLKDRAV EAQSCYSLGN TYTLLQDYEK 300
AIDYHLKHLA IAQELNDRIG EGRACWSLGN AYTALGNHDQ AMHFAEKHLE 350
ISREVGDKSG ELTARLNLSD LQMVLGLSYS TNNSIMSENT EIDSSLNGVR 400
PKLGRRHSME NMELMKLTPE KVQNWNSEIL AKQKPLIAKP SAKLLFVNRL 450
KGKKYKTNSS TKVLQDASNS IDHRIPNSQR KISADTIGDE GFFDLLSRFQ 500
SNRMDDQRCC LQEKNCHTAS TTTSSTPPKM MLKTSSVPVV SPNTDEFLDL 550
LASSQSRRLD DQRASFSNLP GLRLTQNSQS VLSHLMTNDN KEADEDFFDI 600
LVKCQGSRLD DQRCAPPPAT TKGPTVPDED FFSLILRSQG KRMDEQRVLL 650
QRDQNRDTDF GLKDFLQNNA LLEFKNSGKK SADH 684
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.
The sequence AAH27732.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti400 – 4001R → L in AAB40385. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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:
PDBe
RCSB PDB
PDBj
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 nonsyndromic sensorineural deafness type DFNB.
314597. Chudley-McCullough syndrome.
PharmGKBi PA134993615.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0457.
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

ArrayExpressi P81274.
Bgeei P81274.
CleanExi HS_GPSM2.
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.
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: July 9, 2014
This is version 148 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.
Mutations in GPSM2 have been identified in people with profound congenital non-syndromic deafness designated as DFNB82 (1 Publication). 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 (1 Publication).

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

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