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Q9BYB4

- GNB1L_HUMAN

UniProt

Q9BYB4 - GNB1L_HUMAN

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Protein

Guanine nucleotide-binding protein subunit beta-like protein 1

Gene

GNB1L

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

Functioni

GO - Biological processi

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

Enzyme and pathway databases

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
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:4397. GNB1L.

Subcellular locationi

GO - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28777.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 327327Guanine nucleotide-binding protein subunit beta-like protein 1PRO_0000051008Add
BLAST

Proteomic databases

MaxQBiQ9BYB4.
PaxDbiQ9BYB4.
PeptideAtlasiQ9BYB4.
PRIDEiQ9BYB4.

PTM databases

PhosphoSiteiQ9BYB4.

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

BgeeiQ9BYB4.
CleanExiHS_GNB1L.
ExpressionAtlasiQ9BYB4. baseline and differential.
GenevestigatoriQ9BYB4.

Organism-specific databases

HPAiHPA034627.
HPA034628.

Interactioni

Protein-protein interaction databases

BioGridi120061. 8 interactions.
IntActiQ9BYB4. 1 interaction.
STRINGi9606.ENSP00000331313.

Structurei

3D structure databases

ProteinModelPortaliQ9BYB4.
SMRiQ9BYB4. Positions 37-322.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati18 – 6245WD 1Add
BLAST
Repeati65 – 10541WD 2Add
BLAST
Repeati160 – 20344WD 3Add
BLAST
Repeati206 – 24540WD 4Add
BLAST
Repeati251 – 29242WD 5Add
BLAST
Repeati293 – 32634WD 6Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi4 – 129Poly-Pro

Sequence similaritiesi

Contains 6 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiCOG2319.
GeneTreeiENSGT00390000018606.
HOGENOMiHOG000007056.
HOVERGENiHBG051745.
InParanoidiQ9BYB4.
OMAiERKVCSR.
OrthoDBiEOG7XH6Q7.
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. 3 hits.
[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. Align

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 BAB33315.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301E → K.
Corresponds to variant rs35178436 [ dbSNP | Ensembl ].
VAR_053394
Natural varianti37 – 371R → H.
Corresponds to variant rs5748449 [ dbSNP | Ensembl ].
VAR_053395
Natural varianti239 – 2391W → G.
Corresponds to variant rs2073770 [ dbSNP | Ensembl ].
VAR_024698
Natural varianti296 – 2961A → T in a breast cancer sample; somatic mutation. 1 Publication
VAR_035882

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei211 – 2122VM → GL in isoform 2. 1 PublicationVSP_006767
Alternative sequencei213 – 327115Missing in isoform 2. 1 PublicationVSP_006768Add
BLAST

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.1. human. [Q9BYB4-1]

Polymorphism databases

DMDMi27151507.

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 .
CCDSi CCDS13768.1. [Q9BYB4-1 ]
RefSeqi NP_443730.1. NM_053004.2. [Q9BYB4-1 ]
UniGenei Hs.105642.

3D structure databases

ProteinModelPortali Q9BYB4.
SMRi Q9BYB4. Positions 37-322.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120061. 8 interactions.
IntActi Q9BYB4. 1 interaction.
STRINGi 9606.ENSP00000331313.

PTM databases

PhosphoSitei Q9BYB4.

Polymorphism databases

DMDMi 27151507.

Proteomic databases

MaxQBi Q9BYB4.
PaxDbi Q9BYB4.
PeptideAtlasi Q9BYB4.
PRIDEi Q9BYB4.

Protocols and materials databases

DNASUi 54584.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329517 ; ENSP00000331313 ; ENSG00000185838 . [Q9BYB4-1 ]
ENST00000403325 ; ENSP00000385154 ; ENSG00000185838 . [Q9BYB4-1 ]
ENST00000405009 ; ENSP00000384626 ; ENSG00000185838 . [Q9BYB4-2 ]
GeneIDi 54584.
KEGGi hsa:54584.
UCSCi uc002zqf.1. human. [Q9BYB4-1 ]

Organism-specific databases

CTDi 54584.
GeneCardsi GC22M019770.
HGNCi HGNC:4397. GNB1L.
HPAi HPA034627.
HPA034628.
MIMi 610778. gene.
neXtProti NX_Q9BYB4.
PharmGKBi PA28777.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2319.
GeneTreei ENSGT00390000018606.
HOGENOMi HOG000007056.
HOVERGENi HBG051745.
InParanoidi Q9BYB4.
OMAi ERKVCSR.
OrthoDBi EOG7XH6Q7.
PhylomeDBi Q9BYB4.
TreeFami TF344050.

Enzyme and pathway databases

SignaLinki Q9BYB4.

Miscellaneous databases

ChiTaRSi GNB1L. human.
GeneWikii GNB1L.
GenomeRNAii 54584.
NextBioi 57105.
PROi Q9BYB4.
SOURCEi Search...

Gene expression databases

Bgeei Q9BYB4.
CleanExi HS_GNB1L.
ExpressionAtlasi Q9BYB4. baseline and differential.
Genevestigatori Q9BYB4.

Family and domain databases

Gene3Di 2.130.10.10. 2 hits.
InterProi IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF00400. WD40. 3 hits.
[Graphical view ]
SMARTi SM00320. WD40. 6 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 2 hits.
PROSITEi PS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide."
    Gong L., Liu M., Jen J., Yeh E.T.H.
    Biochim. Biophys. Acta 1494:185-188(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
  2. "Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11."
    Funke B., Pandita R.K., Morrow B.E.
    Genomics 73:264-271(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Molecular cloning of FKSG1, a novel gene deleted in DiGeorge syndrome."
    Wang Y.-G.
    Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  4. "Molecular cloning of DGCRK3."
    Shimizu N., Minosima S., Kawasaki K., Sasaki T.
    Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping."
    Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O.
    DNA Res. 8:1-9(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  7. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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] (ISOFORM 1).
    Tissue: Lung.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-296.

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 26, 2014
This is version 123 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

External Data

Dasty 3