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Gene, Transcriptome, Protein, Pathway or Disease. 

Protein basic information

LiverAtlas Protein ID

HuLPr04032

Uniprot ID

ALEX_HUMAN

Uniprot Acc

P84996;A2A2S4;

Protein name

Protein ALEX

Comment

FUNCTION:May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.||SUBUNIT:Interacts with the N-terminal region of the XLas isoforms of guanine nucleotide-binding protein G(s) subunit alpha (By similarity).||SUBCELLULAR LOCATION:Cell membrane; Peripheral membrane protein. Cell projection, ruffle (By similarity). Note=Predominantly associated with cell membrane ruffles (By similarity).||DISEASE:Defects in GNAS are the cause of GNAS hyperfunction (GNASHYP) [MIM:139320]. This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms.||DISEASE:Defects in GNAS are a cause of ACTH-independent macronodular adrenal hyperplasi

Subcellular localization

Cell membrane;Peripheral membrane protein.Cell projection, ruffle(By similarity).

Gene name

GNAS complex locus

Protein sequence

MMARPVDPQRSPDPTFRSSTRHSGKLEPMEATAHLLRKQC PSRLNSPAWEASGLHWSSLDSPVGSMQALRPSAQHSWSP EPSVVPDQAWEDTALHQKKLCPLSLTSLPREAAVNFSYR SQTLLQEAQVLQGSPELLPRSPKPSGLQRLAPEEATALP LRRLCHLSLMEKDLGTTAHPRGFPELSHKSTAAASSRQS RPRVRSASLPPRTRLPSGSQAPSAAHPKRLSDLLLTSRA AAPGWRSPDPRSRLAAPPLGSTTLPSTWTAPQSRLTARP SRSPEPQIRESEQRDPQLRRKQQRWKEPLMPRREEKYPL RGTDPLPPGQPQRIPLPGQPLQPQPILTPGQPQKIPTPG QHQPILTPGHSQPIPTPGQPLPPQPIPTPGRPLTPQPIP TPGRPLTPQPIQMPGRPLRLPPPLRLLRPGQPMSPQLRQ TQGLPLPQPLLPPGQPKSAGRPLQPLPPGPDARSISDPP APRSRLPIRLLRGLLARLPGGASPRAAAAAACTTMKGWP AATMTPAETSPTMGPPDASAGFSIGEIAAAESPSATYSA TFSCKPSGAASVDLRVPSPKPRALSRSRRYPWRRSADRC AKKPWRSGPRSAQRRNAVSSSTNNSRTKRWATCVRTACCF

Database cross reference

RefSeq Protein accession:NP_000507
RefSeq Protein gi:4504047

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Human Liver Organelles;

Ontology annotation

GO-C

GO:0005886;C:plasma membrane;IEA:UniProtKB-SubCell. GO:0001726;C:ruffle;IEA:UniProtKB-SubCell.

Pathway

Pathway name

FSH