RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: RFNGprovided by HGNC
Official Full Name: RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:9974
See related: Ensembl:ENSG00000169733 MIM:602578; AllianceGenome:HGNC:9974
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. Predicted to be involved in regulation of Notch signaling pathway. Predicted to act upstream of or within positive regulation of Notch signaling pathway and positive regulation of protein binding activity. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary (RPKM 13.6), fat (RPKM 12.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (82047902..82051811, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (82915060..82918969, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (80005778..80009687, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98836 (e-PCR)
- UniSTS:86641

PMC111189P1 (e-PCR)
- UniSTS:270220

RH79807 (e-PCR)
- UniSTS:83632

RH35971 (e-PCR)
- UniSTS:11248

Homology

Homologs of the RFNG gene: The RFNG gene is conserved in Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 456 organisms have orthologs with human gene RFNG
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in pattern specification process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein binding	IEA Inferred from Electronic Annotation more info
involved_in regulation of Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: beta-1,3-N-acetylglucosaminyltransferase radical fringe

Names: O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; radical fringe homolog

NP_002908.1

EC 2.4.1.222

XP_011521889.1

EC 2.4.1.222

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002917.2 → NP_002908.1 beta-1,3-N-acetylglucosaminyltransferase radical fringe precursor

See identical proteins and their annotated locations for NP_002908.1

Status: VALIDATED

Source sequence(s)

AC135056, AF038196, AF108139, AK094016, BC014495, BF435018

Consensus CDS

CCDS32773.1

UniProtKB/Swiss-Prot

O00588, Q9Y644

UniProtKB/TrEMBL

Q8N9R1

Related

ENSP00000307971.4, ENST00000310496.9

Conserved Domains (1) summary

pfam02434
Location:55 → 305

Fringe; Fringe-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

82047902..82051811 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523587.3 → XP_011521889.1 beta-1,3-N-acetylglucosaminyltransferase radical fringe isoform X1

UniProtKB/TrEMBL

F5H3H7

Related

ENSP00000402931.3, ENST00000429557.7

Conserved Domains (1) summary

pfam02434
Location:1 → 179

Fringe; Fringe-like