Q9BYB4 (GNB1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	GNB1L
Synonyms:	GY2, KIAA1645, WDR14
ORF Names:	FKSG1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	327 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G-protein coupled receptor signaling pathway Non-traceable author statement Ref.1. Source: UniProtKB intracellular signal transduction Non-traceable author statement Ref.1. Source: UniProtKB social behavior Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara internal side of plasma membrane Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 327	327	Guanine nucleotide-binding protein subunit beta-like protein 1		PRO_0000051008
Regions
	Repeat	18 – 62	45	WD 1
	Repeat	65 – 105	41	WD 2
	Repeat	160 – 203	44	WD 3
	Repeat	206 – 245	40	WD 4
	Repeat	251 – 292	42	WD 5
	Repeat	293 – 326	34	WD 6
	Compositional bias	4 – 12	9	Poly-Pro
Natural variations
	Alternative sequence	211 – 212	2	VM → GL in isoform 2.		VSP_006767
	Alternative sequence	213 – 327	115	Missing in isoform 2.		VSP_006768
	Natural variant	30	1	E → K. Corresponds to variant rs35178436 [ dbSNP | Ensembl ].		VAR_053394
	Natural variant	37	1	R → H. Corresponds to variant rs5748449 [ dbSNP | Ensembl ].		VAR_053395
	Natural variant	239	1	W → G. Corresponds to variant rs2073770 [ dbSNP | Ensembl ].		VAR_024698
	Natural variant	296	1	A → T in a breast cancer sample; somatic mutation. Ref.10		VAR_035882

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 13, 2002. Version 2. Checksum: 1A2FEAE50AF57A60	FASTA	327	35,618
	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
	Isoform 2 [UniParc]. Checksum: 7E10D4702139F9BC	FASTA	212	22,896
	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 LLAGYEDGSV VLWDVSEQKV CSRIACHEEP GL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00107339. IPI00218734.
RefSeq	NP_443730.1. NM_053004.2.
UniGene	Hs.105642.
3D structure databases
ProteinModelPortal	Q9BYB4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BYB4. 1 interaction.
STRING	9606.ENSP00000331313.
PTM databases
PhosphoSite	Q9BYB4.
Polymorphism databases
DMDM	27151507.
Proteomic databases
PaxDb	Q9BYB4.
PeptideAtlas	Q9BYB4.
PRIDE	Q9BYB4.
Protocols and materials databases
DNASU	54584.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329517; ENSP00000331313; ENSG00000185838. ENST00000403325; ENSP00000385154; ENSG00000185838. ENST00000405009; ENSP00000384626; ENSG00000185838.
GeneID	54584.
KEGG	hsa:54584.
UCSC	uc002zqf.1. human.
Organism-specific databases
CTD	54584.
GeneCards	GC22M019770.
HGNC	HGNC:4397. GNB1L.
HPA	HPA034627. HPA034628.
MIM	610778. gene.
neXtProt	NX_Q9BYB4.
PharmGKB	PA28777.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000007056.
HOVERGEN	HBG051745.
InParanoid	Q9BYB4.
OMA	HEEPVMD.
OrthoDB	EOG4GF3FM.
Gene expression databases
ArrayExpress	Q9BYB4.
Bgee	Q9BYB4.
CleanEx	HS_GNB1L.
Genevestigator	Q9BYB4.
GermOnline	ENSG00000185838. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 2 hits.
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00400. WD40. 3 hits. [Graphical view]
SMART	SM00320. WD40. 6 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	54584.
NextBio	57105.
SOURCE	Search...

Entry information

Entry name

GNB1L_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.