GNAI3 - G protein subunit alpha i3 Gene

Also Known as 87U6; HG1A; ARCND1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2773

About GNAI3

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,548,615-109,600,195 (from NCBI)

This gene has 1 transcript (splice variant), 235 orthologues, 15 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 27.0), bone marrow (RPKM 22.0) and 25 other tissues.

Summary

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled Endothelin Receptor pathway. [provided by RefSeq, Jun 2012]

GNAI3 Products (1)

mRNA Protein Name
NM_006496.4 NP_006487.1 guanine nucleotide-binding protein G(i) subunit alpha-3
Molecular Function GO Annotation Evidence References Source
enables GDP binding IDA
IDA: Inferred from direct assay
19478087 GOA
enables GTPase activity IDA
IDA: Inferred from direct assay
19478087 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18434541 GOA
Biological Process GO Annotation Evidence References Source
involved in GTP metabolic process IDA
IDA: Inferred from direct assay
19478087 GOA
involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
19478087 GOA
involved in cell division IDA
IDA: Inferred from direct assay
17635935 GOA
involved in positive regulation of macroautophagy IMP
IMP: Inferred from mutant phenotype
12642577 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with Golgi membrane IDA
IDA: Inferred from direct assay
12642577 GOA
located in centrosome IDA
IDA: Inferred from direct assay
17635935 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
17635935 GOA
colocalizes with endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
12642577 GOA
located in midbody IDA
IDA: Inferred from direct assay
17635935 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
17635935 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GNAI3 Protein Structure

G-alpha

G-alpha: G-protein alpha subunit (6 - 343)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
Protein Preferred Names Protein Names

guanine nucleotide-binding protein G(i) subunit alpha-3

  • g(i) alpha-3

GNAI3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GNAI3 P08754 PCP2 Homo sapiens Q8IVA1 32296183
Intra
GNAI3 P08754 PCP2 Homo sapiens Q8IVA1 32296183
Intra
GNAI3 P08754 PCP2 Homo sapiens Q8IVA1 32296183
Intra
GNAI3 P08754 PHF24 Homo sapiens Q9UPV7 32296183
Intra
GNAI3 P08754 PHF24 Homo sapiens Q9UPV7 32296183
Intra
GNAI3 P08754 PHF24 Homo sapiens Q9UPV7 32296183
Intra
GNAI3 P08754 GPSM3 Homo sapiens Q9Y4H4 25416956
Intra
GNAI3 P08754 GPSM3 Homo sapiens Q9Y4H4 32296183
Intra
GNAI3 P08754 GPSM3 Homo sapiens Q9Y4H4 25416956
Intra
GNAI3 P08754 RGS17 Homo sapiens Q9UGC6 25416956
Intra
GNAI3 P08754 GPSM2 Homo sapiens P81274 32296183
Intra
GNAI3 P08754 GPSM2 Homo sapiens P81274 32296183
Intra
GNAI3 P08754 GPSM2 Homo sapiens P81274 32296183
Intra
GNAI3 P08754 RGS14 Homo sapiens O43566 32296183
Intra
GNAI3 P08754 RGS14 Homo sapiens O43566 33961781
Intra
GNAI3 P08754 RGS14 Homo sapiens O43566 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Auriculocondylar Syndrome 1
  • Question Mark Ears Syndrome

  • ARCND1

  • Dysgnathia Complex

  • Acs

  • Auriculocondylar Syndrome, Type 1

  • Auriculo-Condylar Syndrome

  • Stomatognathic System Abnormalities

Auriculo-Condylar Syndrome
  • Auriculocondylar Syndrome

  • Dysgnathia Complex

  • Ears Prominent And Constricted

  • Question Mark Ear

  • Question-Mark Ear Syndrome

  • Question Mark Ear Syndrome

Ankylosis
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 5

  • SRTD5

  • Atd5

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Jeune Syndrome 5

Frontonasal Dysplasia 1
  • Frontorhiny

  • Frontonasal Dysplasia

  • Fnd

  • Frontonasal Malformation

  • Fnm

  • Median Facial Cleft Syndrome

  • Midline Facial Cleft

  • FND1

  • Median Cleft Face Syndrome

  • Median Cleft Syndrome

  • Frontonasal Dysplasia Sequence

  • Median Facial Cleft

  • Tessier Number 0-14 And 30 Facial Cleft

  • Alx3-Related Frontonasal Dysplasia

  • Frontonasal Dysplasia Type 1

  • Isolated Median Cleft Face Syndrome

  • Doid:0081044

  • Doid:0081045

  • Dysplasia, Frontonasal, Type

Mandibulofacial Dysostosis With Alopecia
  • MFDA

Neurodevelopmental Disorder With Involuntary Movements
  • NEDIM

Agnathia-Otocephaly Complex
  • Otocephaly

  • Holoprosencephaly-Agnathia

  • Dysgnathia Complex Agnathia-Holoprosencephaly

  • AGOTC

  • Agnathia-Holoprosencephaly-Situs Inversus Syndrome

  • Dysgnathia Complex

  • Agnathia-Holoprosencephaly

  • Cervical Auricle

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus GNAI3 VGNC VGNC:80220
Rattus norvegicus GNAI3 RGD RGD:2714
Macaca mulatta GNAI3 VGNC VGNC:73091
Canis familiaris GNAI3 VGNC VGNC:41303
Bos taurus GNAI3 VGNC VGNC:29451
Mus musculus GNAI3 MGD MGI:95773
Others GNAI3 NCBI