Homo sapiens Protein: GNB4 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-478059.3 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | GNB4 | ||||||||||||||||||||||
Protein Name | guanine nucleotide binding protein (G protein), beta polypeptide 4 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000419693 | ||||||||||||||||||||||
InnateDB Gene | IDBG-66267 (GNB4) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. | ||||||||||||||||||||||
Subcellular Localization | |||||||||||||||||||||||
Disease Associations | Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range. {ECO:0000269PubMed:23434117}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart. Abundantly expressed in the axons and Schwann cells of peripheral nerves. {ECO:0000269PubMed:11842130, ECO:0000269PubMed:23434117}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001632
G-protein, beta subunit IPR001680 WD40 repeat IPR016346 Guanine nucleotide-binding protein, beta subunit IPR017986 WD40-repeat-containing domain IPR020472 G-protein beta WD-40 repeat |
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PFAM |
PF00400
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PRINTS |
PR00319
PR00320 |
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PIRSF |
PIRSF002394
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SMART |
SM00320
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9HAV0 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9HAV0 | ||||||||||||||||||||||
TrEMBL | C9JD14 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 59345 | ||||||||||||||||||||||
UniGene | Hs.639225 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:20731 | ||||||||||||||||||||||
OMIM | 610863 | ||||||||||||||||||||||
CCDS | CCDS3230 | ||||||||||||||||||||||
HPRD | 09973 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC007620 AF300648 AK001890 AK297174 BC000873 CH471052 | ||||||||||||||||||||||
GenPept | AAG18442 AAH00873 BAG50987 BAG59667 EAW78403 EAW78404 | ||||||||||||||||||||||