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Q9HAV0 (GBB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Guanine nucleotide-binding protein subunit beta-4
Alternative name(s):
Transducin beta chain 4
Gene names
Name:GNB4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length340 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

G proteins are composed of 3 units, alpha, beta and gamma.

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. Ref.1 Ref.7

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the WD repeat G protein beta family.

Contains 7 WD repeats.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.5
Chain2 – 340339Guanine nucleotide-binding protein subunit beta-4
PRO_0000127702

Regions

Repeat53 – 9240WD 1
Repeat95 – 13440WD 2
Repeat141 – 17939WD 3
Repeat182 – 22140WD 4
Repeat224 – 26340WD 5
Repeat268 – 30740WD 6
Repeat310 – 33930WD 7

Amino acid modifications

Modified residue21N-acetylserine Ref.5

Natural variations

Natural variant531G → D in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. Ref.7
VAR_069908
Natural variant891K → E in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. Ref.7
VAR_069909

Sequences

Sequence LengthMass (Da)Tools
Q9HAV0 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: EDF085155A1EDC89

FASTA34037,567
        10         20         30         40         50         60 
MSELEQLRQE AEQLRNQIQD ARKACNDATL VQITSNMDSV GRIQMRTRRT LRGHLAKIYA 

        70         80         90        100        110        120 
MHWGYDSRLL VSASQDGKLI IWDSYTTNKM HAIPLRSSWV MTCAYAPSGN YVACGGLDNI 

       130        140        150        160        170        180 
CSIYNLKTRE GNVRVSRELP GHTGYLSCCR FLDDSQIVTS SGDTTCALWD IETAQQTTTF 

       190        200        210        220        230        240 
TGHSGDVMSL SLSPDMRTFV SGACDASSKL WDIRDGMCRQ SFTGHVSDIN AVSFFPNGYA 

       250        260        270        280        290        300 
FATGSDDATC RLFDLRADQE LLLYSHDNII CGITSVAFSK SGRLLLAGYD DFNCNVWDTL 

       310        320        330        340 
KGDRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLRIWN 

« Hide

References

« Hide 'large scale' references
[1]"Cloning, tissue distribution, and functional expression of the human G protein beta 4-subunit."
Ruiz-Velasco V., Ikeda S.R., Puhl H.L. III
Physiol. Genomics 8:41-50(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[3]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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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: Cervix.
[5]Bienvenut W.V., Quadroni M.
Submitted (JUL-2005) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 2-15 AND 58-78, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Melanoma.
[6]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease."
Soong B.W., Huang Y.H., Tsai P.C., Huang C.C., Pan H.C., Lu Y.C., Chien H.J., Liu T.T., Chang M.H., Lin K.P., Tu P.H., Kao L.S., Lee Y.C.
Am. J. Hum. Genet. 92:422-430(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, VARIANTS CMTDIF ASP-53 AND GLU-89, CHARACTERIZATION OF VARIANTS CMTDIF ASP-53 AND GLU-89.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF300648 mRNA. Translation: AAG18442.1.
AK001890 mRNA. Translation: BAG50987.1.
CH471052 Genomic DNA. Translation: EAW78403.1.
CH471052 Genomic DNA. Translation: EAW78404.1.
BC000873 mRNA. Translation: AAH00873.1.
CCDSCCDS3230.1.
RefSeqNP_067642.1. NM_021629.3.
XP_005247749.1. XM_005247692.1.
XP_006713784.1. XM_006713721.1.
UniGeneHs.173030.

3D structure databases

ProteinModelPortalQ9HAV0.
SMRQ9HAV0. Positions 1-340.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121887. 31 interactions.
IntActQ9HAV0. 11 interactions.
MINTMINT-1135986.
STRING9606.ENSP00000232564.

PTM databases

PhosphoSiteQ9HAV0.

Polymorphism databases

DMDM22256759.

2D gel databases

OGPQ9HAV0.

Proteomic databases

MaxQBQ9HAV0.
PeptideAtlasQ9HAV0.
PRIDEQ9HAV0.

Protocols and materials databases

DNASU59345.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000232564; ENSP00000232564; ENSG00000114450.
ENST00000468623; ENSP00000419693; ENSG00000114450.
GeneID59345.
KEGGhsa:59345.
UCSCuc003fjv.4. human.

Organism-specific databases

CTD59345.
GeneCardsGC03M179113.
HGNCHGNC:20731. GNB4.
HPACAB018383.
CAB018737.
HPA040736.
MIM610863. gene.
615185. phenotype.
neXtProtNX_Q9HAV0.
Orphanet352670. Autosomal dominant intermediate Charcot-Marie-Tooth disease type F.
PharmGKBPA134864200.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000176356.
HOVERGENHBG000188.
InParanoidQ9HAV0.
KOK04538.
OMAATSFTGH.
OrthoDBEOG7GN2N5.
PhylomeDBQ9HAV0.
TreeFamTF106149.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_111217. Metabolism.
REACT_13685. Neuronal System.
REACT_15518. Transmembrane transport of small molecules.
REACT_604. Hemostasis.
SignaLinkQ9HAV0.

Gene expression databases

ArrayExpressQ9HAV0.
BgeeQ9HAV0.
CleanExHS_GNB4.
GenevestigatorQ9HAV0.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR020472. G-protein_beta_WD-40_rep.
IPR001632. Gprotein_B.
IPR016346. Guanine_nucleotide-bd_bsu.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 7 hits.
[Graphical view]
PIRSFPIRSF002394. GN-bd_beta. 1 hit.
PRINTSPR00319. GPROTEINB.
PR00320. GPROTEINBRPT.
SMARTSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
PROSITEPS00678. WD_REPEATS_1. 3 hits.
PS50082. WD_REPEATS_2. 6 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGNB4.
GenomeRNAi59345.
NextBio65246.
PROQ9HAV0.
SOURCESearch...

Entry information

Entry nameGBB4_HUMAN
AccessionPrimary (citable) accession number: Q9HAV0
Secondary accession number(s): B3KMH5, D3DNR8
Entry history
Integrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 127 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

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM