RBCC Red Blood Cell Collection

GNAI3_HUMAN

Source: hRBCD ; ID: IPI00220578
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: GNAI3
Protein names and data: GNAI3_HUMAN , Guanine nucleotide-binding protein G(k) subunit alpha , G(i) alpha-3 Lenght: 354 a.a.
Mass: 40532 Da
fasta formatted sequence
Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(k) is the stimulatory G protein of receptor- regulated K(+) channels. The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division.
Disease: ( OMIM: 139370 602483 ) Auriculocondylar syndrome 1 (ARCND1) [MIM:602483]: An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Cell membrane. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes in the centrosomes of interphase and mitotic cells. Detected at the cleavage furrow and/or the midbody.

Genetic variants

40 - 40 G -> R (in ARCND1). VAR_068558

Database cross-references

UniProt: P08754
Ensembl: ENST00000369851
MIM: 139370
MIM: 602483
neXtProt: NX_P08754
Antibodypedia: P08754 (may not find the protein thus also not any antibody)
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