GNB1L
Guanine nucleotide-binding protein subunit beta-like protein 1
Also known as: GNB1L_HUMAN, GY2, WDR14
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BYB4
- Gene
- GNB1L
- Ensembl
- ENSG00000185838
- Chromosome
- 22
- Canonical length
- 327 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
327 residues, UniProt reviewed canonical sequence.
>Q9BYB4|GNB1L
1 MTAPCPPPPP DPQFVLRGTQ SPVHALHFCE GAQAQGRPLL FSGSQSGLVH IWSLQTRRAV
61 TTLDGHGGQC VTWLQTLPQG RQLLSQGRDL KLCLWDLAEG RSAVVDSVCL ESVGFCRSSI
121 LAGGQPRWTL AVPGRGSDEV QILEMPSKTS VCALKPKADA KLGMPMCLRL WQADCSSRPL
181 LLAGYEDGSV VLWDVSEQKV CSRIACHEEP VMDLDFDSQK ARGISGSAGK ALAVWSLDWQ
241 QALQVRGTHE LTNPGIAEVT IRPDRKILAT AGWDHRIRVF HWRTMQPLAV LAFHSAAVQC
301 VAFTADGLLA AGSKDQRISL WSLYPRALocalizationUniProt · AlphaFold · HPA
Whether an antibody against GNB1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 5.6 nTPM
Expression across tissuesHPA
Tissue
- skin: 5.6 nTPM
- spleen: 5 nTPM
- esophagus: 4.7 nTPM
- cerebral cortex: 4.4 nTPM
- cervix: 3.9 nTPM
- duodenum: 3.9 nTPM
Single-cell type
- early spermatids: 44 nCPM
- endometrial luminal cells: 32 nCPM
- esophageal basal cells: 25 nCPM
- migrating cytotrophoblasts: 23 nCPM
- basal keratinocytes: 22 nCPM
- cytotrophoblasts: 21 nCPM
Immune cell
- T-reg: 17 nTPM
- eosinophil: 16 nTPM
- plasmacytoid DC: 13 nTPM
- gdT-cell: 13 nTPM
- MAIT T-cell: 13 nTPM
- memory CD4 T-cell: 13 nTPM
Brain region
- cerebral cortex: 9.1 nTPM
- hippocampal formation: 7 nTPM
- basal ganglia: 6.4 nTPM
- medulla oblongata: 6.3 nTPM
- white matter: 6.1 nTPM
- amygdala: 5.8 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.05
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.02
- DepMap mean gene effect
- -0.58
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GNB1L as an antibody target. Whether an autoantibody or antibody against GNB1L could matter depends on whether native GNB1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GNB1L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GNB1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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