Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	152586
Gene name	MGAT4 family member D
Gene symbol	MGAT4D
Synonyms (NCBI Gene)	GnT1IP
Chromosome	4
Chromosome location	4q31.1

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence
GO:0000139	Component	Golgi membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IBA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IBA
GO:0005795	Component	Golgi stack	IEA
GO:0006487	Process	Protein N-linked glycosylation	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0060051	Process	Negative regulation of protein glycosylation	IEA

MIM	HGNC	e!Ensembl
610310	43619	ENSG00000205301

A6NG13

Protein name

Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D (N-acetylglucosaminyltransferase MGAT1 inhibitory protein) (GlcNAcT-I inhibitory protein) (GnT1IP)

Protein function

May play a role in male spermatogenesis. In vitro acts as inhibitor of MGAT1 activity causing cell surface proteins to carry mainly high mannose N-glycans. The function is mediated by its lumenal domain and occurs specifically in the Golgi. A ca

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04666	Glyco_transf_54	83 → 374		Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis. Poorly expressed in testis biopsies from men with impaired spermatogenesis. {ECO:0000269|PubMed:16773575, ECO:0000269|PubMed:26371870}.

Sequence

MRTKQVNLLITLVAVALFSFSCFSIYRITQTNNQLINCRNHILEFKENMLHLRNKTEKNT
QEMMKVLNRMKYEITKREILSGNLVAQKADILNKNETVSNTFEDLKFFFPHLRKEGRIYP
DVIIGKGKTGVSFALGISTVNRGNYSYLKQTLTSVVSRMTLSQEKDSVVIVLVADSNEDY
LHSVVKMITKKFKRQVRSGSLEVISIPAFLYSSMLNAKHLAEASQKLASWRIKQVLDFCI
LLLYAQPKAKYYLQLEDDIIAKEMYFTKITDFVGNISSNNWFFIEFSMLGFIGKLFRSED
LTHFVRFFLMFYKEKPIDWLLNDIFQVKVCDAGEDLRNCMKRKKQIRIQYKPSLFQHVGI
HSSFPRKEQYEKKI

Sequence length

374

Interactions

View interactions

	KEGG
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MGAT4D (MGAT4 family member D)