Skip Header

 
Contribute Send feedback
Read comments (1) or add your own

Reviewed, UniProtKB/Swiss-Prot Q9BYB4 (GNB1L_HUMAN)

Last modified June 16, 2009. Version 69. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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):
    WD40 repeat-containing protein deleted in VCFS
      Short name=Protein WDVCF
    WD repeat-containing protein 14
    DGCRK3
Gene names
Name: GNB1L
Synonyms: GY2, KIAA1645, WDR14
ORF Names: FKSG1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length327 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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.

Involvement in disease

May play a part in the etiology of the velocardiofacial/DiGeorge syndrome (VCFS/DGS), a developmental disorder characterized by structural and functional palate anomalies, conotruncal cardiac malformations, immunodeficiency, hypocalcemia, and typical facial anomalies. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR).

Sequence similarities

Contains 6 WD repeats.

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: dbSNP rs35178436.
VAR_053394
Natural variant371R → H: dbSNP rs5748449.
VAR_053395
Natural variant2391W → G: dbSNP rs2073770.
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.

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: 11072084] [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: 11350118] [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: 11258795] [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:RESEARCH84.1-RESEARCH84.11(2004) [PubMed: 15461802] [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: 10591208] [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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung.
[9]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[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: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-296.
+Additional computationally mapped references.

Cross-references

Sequence databases

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.
IPIIPI00107339.
IPI00218734.
RefSeqNP_443730.1.
UniGeneHs.105642

3D structure databases

ModBaseSearch...

Proteomic databases

PeptideAtlasQ9BYB4.
PRIDEQ9BYB4.

Genome annotation databases

EnsemblENSG00000185838. Homo sapiens. [Contig view]
GeneID54584.
KEGGhsa:54584.

Organism-specific databases

GeneCardsGC22M018150.
H-InvDBHIX0016242.
HGNCHGNC:4397. GNB1L.
MIM610778. gene.
PharmGKBPA28777.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9BYB4.
OMAQ9BYB4. RVFHWRT.

Gene expression databases

ArrayExpressQ9BYB4.
BgeeQ9BYB4.
CleanExHS_GNB1L.
GermOnlineENSG00000185838. Homo sapiens.

Family and domain databases

InterProIPR015943. WD40/YVTN_repeat-like.
IPR001680. WD40_repeat.
IPR019782. WD40_repeat_2.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_region.
IPR019781. WD40_repeat_sg.
[Graphical view]
Gene3DG3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
PfamPF00400. WD40. 3 hits.
[Graphical view]
SMARTSM00320. WD40. 6 hits.
[Graphical view]
PROSITEPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio57105.
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: June 16, 2009
This is version 69 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 22

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents