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Protein

Guanine nucleotide-binding protein subunit beta-like protein 1

Gene

GNB1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

  • G-protein coupled receptor signaling pathway Source: UniProtKB
  • intracellular signal transduction Source: UniProtKB
  • social behavior Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33672-MONOMER.
SignaLinkiQ9BYB4.

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein subunit beta-like protein 1
Short name:
G protein subunit beta-like protein 1
Alternative name(s):
DGCRK3
WD repeat-containing protein 14
WD40 repeat-containing protein deleted in VCFS
Short name:
WDVCF
Gene namesi
Name:GNB1L
Synonyms:GY2, KIAA1645, WDR14
ORF Names:FKSG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:4397. GNB1L.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • cytoplasmic side of plasma membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi54584.
OpenTargetsiENSG00000185838.
PharmGKBiPA28777.

Polymorphism and mutation databases

BioMutaiGNB1L.
DMDMi27151507.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000510081 – 327Guanine nucleotide-binding protein subunit beta-like protein 1Add BLAST327

Proteomic databases

EPDiQ9BYB4.
MaxQBiQ9BYB4.
PaxDbiQ9BYB4.
PeptideAtlasiQ9BYB4.
PRIDEiQ9BYB4.

PTM databases

iPTMnetiQ9BYB4.
PhosphoSitePlusiQ9BYB4.

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.

Gene expression databases

BgeeiENSG00000185838.
CleanExiHS_GNB1L.
ExpressionAtlasiQ9BYB4. baseline and differential.
GenevisibleiQ9BYB4. HS.

Organism-specific databases

HPAiHPA034627.
HPA034628.

Interactioni

Protein-protein interaction databases

BioGridi120061. 15 interactors.
IntActiQ9BYB4. 5 interactors.
STRINGi9606.ENSP00000331313.

Structurei

3D structure databases

ProteinModelPortaliQ9BYB4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati16 – 54WD 1Add BLAST39
Repeati58 – 97WD 2Add BLAST40
Repeati103 – 145WD 3Add BLAST43
Repeati153 – 195WD 4Add BLAST43
Repeati200 – 237WD 5Add BLAST38
Repeati242 – 282WD 6Add BLAST41
Repeati286 – 323WD 7Add BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi4 – 12Poly-Pro9

Sequence similaritiesi

Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0322. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00390000018606.
HOGENOMiHOG000007056.
HOVERGENiHBG051745.
InParanoidiQ9BYB4.
OMAiCLELWQA.
OrthoDBiEOG091G0HHK.
PhylomeDBiQ9BYB4.
TreeFamiTF344050.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BYB4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTAPCPPPPP DPQFVLRGTQ SPVHALHFCE GAQAQGRPLL FSGSQSGLVH
60 70 80 90 100
IWSLQTRRAV TTLDGHGGQC VTWLQTLPQG RQLLSQGRDL KLCLWDLAEG
110 120 130 140 150
RSAVVDSVCL ESVGFCRSSI LAGGQPRWTL AVPGRGSDEV QILEMPSKTS
160 170 180 190 200
VCALKPKADA KLGMPMCLRL WQADCSSRPL LLAGYEDGSV VLWDVSEQKV
210 220 230 240 250
CSRIACHEEP VMDLDFDSQK ARGISGSAGK ALAVWSLDWQ QALQVRGTHE
260 270 280 290 300
LTNPGIAEVT IRPDRKILAT AGWDHRIRVF HWRTMQPLAV LAFHSAAVQC
310 320
VAFTADGLLA AGSKDQRISL WSLYPRA
Length:327
Mass (Da):35,618
Last modified:December 13, 2002 - v2
Checksum:i1A2FEAE50AF57A60
GO
Isoform 2 (identifier: Q9BYB4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     211-212: VM → GL
     213-327: Missing.

Note: No experimental confirmation available.
Show »
Length:212
Mass (Da):22,896
Checksum:i7E10D4702139F9BC
GO

Sequence cautioni

The sequence BAB33315 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05339430E → K.Corresponds to variant rs35178436dbSNPEnsembl.1
Natural variantiVAR_05339537R → H.Corresponds to variant rs5748449dbSNPEnsembl.1
Natural variantiVAR_024698239W → G.Corresponds to variant rs2073770dbSNPEnsembl.1
Natural variantiVAR_035882296A → T in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs61758989dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006767211 – 212VM → GL in isoform 2. 1 Publication2
Alternative sequenceiVSP_006768213 – 327Missing in isoform 2. 1 PublicationAdd BLAST115

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF238328 mRNA. Translation: AAG36826.1.
AF301895 mRNA. Translation: AAG53933.1.
AY007378 mRNA. Translation: AAG12162.1.
AB049212 Genomic DNA. Translation: BAB68408.1.
AB051432 mRNA. Translation: BAB33315.1. Different initiation.
CR456496 mRNA. Translation: CAG30382.1.
BC012060 mRNA. Translation: AAH12060.1.
CCDSiCCDS13768.1. [Q9BYB4-1]
RefSeqiNP_443730.1. NM_053004.2. [Q9BYB4-1]
UniGeneiHs.105642.

Genome annotation databases

EnsembliENST00000329517; ENSP00000331313; ENSG00000185838. [Q9BYB4-1]
ENST00000403325; ENSP00000385154; ENSG00000185838. [Q9BYB4-1]
ENST00000405009; ENSP00000384626; ENSG00000185838. [Q9BYB4-2]
GeneIDi54584.
KEGGihsa:54584.
UCSCiuc002zqf.2. human. [Q9BYB4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF238328 mRNA. Translation: AAG36826.1.
AF301895 mRNA. Translation: AAG53933.1.
AY007378 mRNA. Translation: AAG12162.1.
AB049212 Genomic DNA. Translation: BAB68408.1.
AB051432 mRNA. Translation: BAB33315.1. Different initiation.
CR456496 mRNA. Translation: CAG30382.1.
BC012060 mRNA. Translation: AAH12060.1.
CCDSiCCDS13768.1. [Q9BYB4-1]
RefSeqiNP_443730.1. NM_053004.2. [Q9BYB4-1]
UniGeneiHs.105642.

3D structure databases

ProteinModelPortaliQ9BYB4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120061. 15 interactors.
IntActiQ9BYB4. 5 interactors.
STRINGi9606.ENSP00000331313.

PTM databases

iPTMnetiQ9BYB4.
PhosphoSitePlusiQ9BYB4.

Polymorphism and mutation databases

BioMutaiGNB1L.
DMDMi27151507.

Proteomic databases

EPDiQ9BYB4.
MaxQBiQ9BYB4.
PaxDbiQ9BYB4.
PeptideAtlasiQ9BYB4.
PRIDEiQ9BYB4.

Protocols and materials databases

DNASUi54584.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329517; ENSP00000331313; ENSG00000185838. [Q9BYB4-1]
ENST00000403325; ENSP00000385154; ENSG00000185838. [Q9BYB4-1]
ENST00000405009; ENSP00000384626; ENSG00000185838. [Q9BYB4-2]
GeneIDi54584.
KEGGihsa:54584.
UCSCiuc002zqf.2. human. [Q9BYB4-1]

Organism-specific databases

CTDi54584.
DisGeNETi54584.
GeneCardsiGNB1L.
HGNCiHGNC:4397. GNB1L.
HPAiHPA034627.
HPA034628.
MIMi610778. gene.
neXtProtiNX_Q9BYB4.
OpenTargetsiENSG00000185838.
PharmGKBiPA28777.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0322. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00390000018606.
HOGENOMiHOG000007056.
HOVERGENiHBG051745.
InParanoidiQ9BYB4.
OMAiCLELWQA.
OrthoDBiEOG091G0HHK.
PhylomeDBiQ9BYB4.
TreeFamiTF344050.

Enzyme and pathway databases

BioCyciZFISH:G66-33672-MONOMER.
SignaLinkiQ9BYB4.

Miscellaneous databases

ChiTaRSiGNB1L. human.
GeneWikiiGNB1L.
GenomeRNAii54584.
PROiQ9BYB4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185838.
CleanExiHS_GNB1L.
ExpressionAtlasiQ9BYB4. baseline and differential.
GenevisibleiQ9BYB4. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGNB1L_HUMAN
AccessioniPrimary (citable) accession number: Q9BYB4
Secondary accession number(s): Q9H2S2, Q9H4M4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: December 13, 2002
Last modified: November 2, 2016
This is version 142 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.