Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9BYB4 (GNB1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:GNB1L
Synonyms:GY2, KIAA1645, WDR14
ORF Names:FKSG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length327 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

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

Sequence similarities

Contains 6 WD repeats.

Sequence caution

The sequence BAB33315.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BYB4-1)

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.
Isoform 2 (identifier: Q9BYB4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     211-212: VM → GL
     213-327: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 327327Guanine nucleotide-binding protein subunit beta-like protein 1
PRO_0000051008

Regions

Repeat18 – 6245WD 1
Repeat65 – 10541WD 2
Repeat160 – 20344WD 3
Repeat206 – 24540WD 4
Repeat251 – 29242WD 5
Repeat293 – 32634WD 6
Compositional bias4 – 129Poly-Pro

Natural variations

Alternative sequence211 – 2122VM → GL in isoform 2.
VSP_006767
Alternative sequence213 – 327115Missing in isoform 2.
VSP_006768
Natural variant301E → K.
Corresponds to variant rs35178436 [ dbSNP | Ensembl ].
VAR_053394
Natural variant371R → H.
Corresponds to variant rs5748449 [ dbSNP | Ensembl ].
VAR_053395
Natural variant2391W → G.
Corresponds to variant rs2073770 [ dbSNP | Ensembl ].
VAR_024698
Natural variant2961A → T in a breast cancer sample; somatic mutation. Ref.10
VAR_035882

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 13, 2002. Version 2.
Checksum: 1A2FEAE50AF57A60

FASTA32735,618
        10         20         30         40         50         60 
MTAPCPPPPP DPQFVLRGTQ SPVHALHFCE GAQAQGRPLL FSGSQSGLVH IWSLQTRRAV 

        70         80         90        100        110        120 
TTLDGHGGQC VTWLQTLPQG RQLLSQGRDL KLCLWDLAEG RSAVVDSVCL ESVGFCRSSI 

       130        140        150        160        170        180 
LAGGQPRWTL AVPGRGSDEV QILEMPSKTS VCALKPKADA KLGMPMCLRL WQADCSSRPL 

       190        200        210        220        230        240 
LLAGYEDGSV VLWDVSEQKV CSRIACHEEP VMDLDFDSQK ARGISGSAGK ALAVWSLDWQ 

       250        260        270        280        290        300 
QALQVRGTHE LTNPGIAEVT IRPDRKILAT AGWDHRIRVF HWRTMQPLAV LAFHSAAVQC 

       310        320 
VAFTADGLLA AGSKDQRISL WSLYPRA 

« Hide

Isoform 2 [UniParc].

Checksum: 7E10D4702139F9BC
Show »

FASTA21222,896

References

« Hide 'large scale' references
[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]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"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].
[10]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-296.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS13768.1. [Q9BYB4-1]
RefSeqNP_443730.1. NM_053004.2. [Q9BYB4-1]
UniGeneHs.105642.

3D structure databases

ProteinModelPortalQ9BYB4.
SMRQ9BYB4. Positions 37-323.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120061. 2 interactions.
IntActQ9BYB4. 1 interaction.
STRING9606.ENSP00000331313.

PTM databases

PhosphoSiteQ9BYB4.

Polymorphism databases

DMDM27151507.

Proteomic databases

MaxQBQ9BYB4.
PaxDbQ9BYB4.
PeptideAtlasQ9BYB4.
PRIDEQ9BYB4.

Protocols and materials databases

DNASU54584.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000329517; ENSP00000331313; ENSG00000185838. [Q9BYB4-1]
ENST00000403325; ENSP00000385154; ENSG00000185838. [Q9BYB4-1]
ENST00000405009; ENSP00000384626; ENSG00000185838. [Q9BYB4-2]
GeneID54584.
KEGGhsa:54584.
UCSCuc002zqf.1. human. [Q9BYB4-1]

Organism-specific databases

CTD54584.
GeneCardsGC22M019770.
HGNCHGNC:4397. GNB1L.
HPAHPA034627.
HPA034628.
MIM610778. gene.
neXtProtNX_Q9BYB4.
PharmGKBPA28777.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000007056.
HOVERGENHBG051745.
InParanoidQ9BYB4.
OMAERKVCSR.
OrthoDBEOG7XH6Q7.
PhylomeDBQ9BYB4.
TreeFamTF344050.

Enzyme and pathway databases

SignaLinkQ9BYB4.

Gene expression databases

ArrayExpressQ9BYB4.
BgeeQ9BYB4.
CleanExHS_GNB1L.
GenevestigatorQ9BYB4.

Family and domain databases

Gene3D2.130.10.10. 2 hits.
InterProIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 3 hits.
[Graphical view]
SMARTSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 2 hits.
PROSITEPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGNB1L.
GenomeRNAi54584.
NextBio57105.
PROQ9BYB4.
SOURCESearch...

Entry information

Entry nameGNB1L_HUMAN
AccessionPrimary (citable) accession number: Q9BYB4
Secondary accession number(s): Q9H2S2, Q9H4M4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: December 13, 2002
Last modified: July 9, 2014
This is version 120 of the entry and version 2 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 22

Human chromosome 22: entries, gene names and cross-references to MIM