Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P81274 (GPSM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 148. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
G-protein-signaling modulator 2
Alternative name(s):
Mosaic protein LGN
Gene names
Name:GPSM2
Synonyms:LGN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length684 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8

Subunit structure

Interacts with LLGL2. Interacts with INSC/inscuteable and probably with F2RL2. Ref.8 Ref.9

Subcellular location

Cytoplasm. Cytoplasmcell cortex. Note: Localizes in the cytoplasm in the interphase and at cell periphery in the metaphase. Ref.8

Tissue specificity

Ubiquitously expressed.

Involvement in disease

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. Ref.11 Ref.13

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.

Sequence similarities

Belongs to the GPSM family.

Contains 4 GoLoco domains.

Contains 8 TPR repeats.

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 (Ref.11). 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 (Ref.13).

Sequence caution

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.

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 684684G-protein-signaling modulator 2
PRO_0000106358

Regions

Repeat24 – 5734TPR 1
Repeat62 – 9534TPR 2
Repeat102 – 13534TPR 3
Repeat142 – 18443TPR 4
Repeat202 – 23534TPR 5
Repeat242 – 27534TPR 6
Repeat282 – 31534TPR 7
Repeat322 – 35534TPR 8
Domain489 – 51123GoLoco 1
Domain544 – 56623GoLoco 2
Domain594 – 61623GoLoco 3
Domain628 – 65023GoLoco 4

Amino acid modifications

Modified residue1321Phosphoserine; by PKG Potential
Modified residue3521Phosphoserine; by PKG Potential
Modified residue4081Phosphoserine Ref.12
Modified residue4831Phosphoserine Ref.10
Modified residue4861Phosphothreonine Ref.10
Modified residue5011Phosphoserine; by PKC Potential
Modified residue5411Phosphoserine Ref.10
Modified residue5651Phosphoserine Ref.12
Modified residue6071Phosphoserine; by PKG Potential

Experimental info

Sequence conflict4001R → L in AAB40385. Ref.1

Secondary structure

................................... 684
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P81274 [UniParc].

Last modified April 20, 2010. Version 3.
Checksum: D007A4765F57CB90

FASTA68476,662
        10         20         30         40         50         60 
MEENLISMRE DHSFHVRYRM EASCLELALE GERLCKSGDC RAGVSFFEAA VQVGTEDLKT 

        70         80         90        100        110        120 
LSAIYSQLGN AYFYLHDYAK ALEYHHHDLT LARTIGDQLG EAKASGNLGN TLKVLGNFDE 

       130        140        150        160        170        180 
AIVCCQRHLD ISRELNDKVG EARALYNLGN VYHAKGKSFG CPGPQDVGEF PEEVRDALQA 

       190        200        210        220        230        240 
AVDFYEENLS LVTALGDRAA QGRAFGNLGN THYLLGNFRD AVIAHEQRLL IAKEFGDKAA 

       250        260        270        280        290        300 
ERRAYSNLGN AYIFLGEFET ASEYYKKTLL LARQLKDRAV EAQSCYSLGN TYTLLQDYEK 

       310        320        330        340        350        360 
AIDYHLKHLA IAQELNDRIG EGRACWSLGN AYTALGNHDQ AMHFAEKHLE ISREVGDKSG 

       370        380        390        400        410        420 
ELTARLNLSD LQMVLGLSYS TNNSIMSENT EIDSSLNGVR PKLGRRHSME NMELMKLTPE 

       430        440        450        460        470        480 
KVQNWNSEIL AKQKPLIAKP SAKLLFVNRL KGKKYKTNSS TKVLQDASNS IDHRIPNSQR 

       490        500        510        520        530        540 
KISADTIGDE GFFDLLSRFQ SNRMDDQRCC LQEKNCHTAS TTTSSTPPKM MLKTSSVPVV 

       550        560        570        580        590        600 
SPNTDEFLDL LASSQSRRLD DQRASFSNLP GLRLTQNSQS VLSHLMTNDN KEADEDFFDI 

       610        620        630        640        650        660 
LVKCQGSRLD DQRCAPPPAT TKGPTVPDED FFSLILRSQG KRMDEQRVLL QRDQNRDTDF 

       670        680 
GLKDFLQNNA LLEFKNSGKK SADH 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome."
Doherty D., Chudley A.E., Coghlan G., Ishak G.E., Innes A.M., Lemire E.G., Rogers R.C., Mhanni A.A., Phelps I.G., Jones S.J., Zhan S.H., Fejes A.P., Shahin H., Kanaan M., Akay H., Tekin M., Triggs-Raine B., Zelinski T.
Am. J. Hum. Genet. 90:1088-1093(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CMCS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS792.2.
PIRG02540. JC5334.
RefSeqNP_037428.3. NM_013296.4.
XP_005270844.1. XM_005270787.1.
XP_006710651.1. XM_006710588.1.
UniGeneHs.584901.
Hs.658489.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3SF4X-ray2.60A/B/C20-421[»]
ProteinModelPortalP81274.
SMRP81274. Positions 20-381, 594-648.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118949. 8 interactions.
DIPDIP-399N.
IntActP81274. 4 interactions.
MINTMINT-3023522.
STRING9606.ENSP00000264126.

PTM databases

PhosphoSiteP81274.

Polymorphism databases

DMDM294862507.

Proteomic databases

MaxQBP81274.
PaxDbP81274.
PRIDEP81274.

Protocols and materials databases

DNASU29899.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264126; ENSP00000264126; ENSG00000121957.
ENST00000406462; ENSP00000385510; ENSG00000121957.
GeneID29899.
KEGGhsa:29899.
UCSCuc010ovc.2. human.

Organism-specific databases

CTD29899.
GeneCardsGC01P109417.
HGNCHGNC:29501. GPSM2.
HPACAB018962.
HPA007327.
HPA008408.
MIM604213. phenotype.
609245. gene.
neXtProtNX_P81274.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
314597. Chudley-McCullough syndrome.
PharmGKBPA134993615.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0457.
HOGENOMHOG000231543.
HOVERGENHBG051823.
InParanoidP81274.
KOK15837.
OMAEYYEANL.
OrthoDBEOG7WHH8W.
PhylomeDBP81274.
TreeFamTF328344.

Gene expression databases

ArrayExpressP81274.
BgeeP81274.
CleanExHS_GPSM2.
GenevestigatorP81274.

Family and domain databases

Gene3D1.25.40.10. 2 hits.
InterProIPR003109. GoLoco_motif.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF02188. GoLoco. 4 hits.
PF00515. TPR_1. 5 hits.
PF13176. TPR_7. 1 hit.
[Graphical view]
SMARTSM00390. GoLoco. 4 hits.
SM00028. TPR. 6 hits.
[Graphical view]
PROSITEPS50877. GOLOCO. 4 hits.
PS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGPSM2.
GenomeRNAi29899.
NextBio52462.
PROP81274.
SOURCESearch...

Entry information

Entry nameGPSM2_HUMAN
AccessionPrimary (citable) accession number: P81274
Secondary accession number(s): Q5T1N8, Q6IBL7, Q8N0Z5
Entry history
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 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM