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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55830
Gene name	Glycosyltransferase 8 domain containing 1
Gene symbol	GLT8D1
Synonyms (NCBI Gene)	AD-017MSTP139
Chromosome	3
Chromosome location	3p21.1
Summary	This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]

Show/Hide all (85)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031944	hsa-miR-16-5p	Proteomics	18668040
MIRT1021747	hsa-miR-2052	CLIP-seq
MIRT1021748	hsa-miR-4328	CLIP-seq
MIRT1021749	hsa-miR-4452	CLIP-seq
MIRT1021750	hsa-miR-4539	CLIP-seq
MIRT1021751	hsa-miR-520d-5p	CLIP-seq
MIRT1021752	hsa-miR-524-5p	CLIP-seq
MIRT1021753	hsa-miR-548aa	CLIP-seq
MIRT1021754	hsa-miR-634	CLIP-seq
MIRT2002747	hsa-miR-124	CLIP-seq
MIRT2002748	hsa-miR-3714	CLIP-seq
MIRT2002749	hsa-miR-3910	CLIP-seq
MIRT2002750	hsa-miR-4534	CLIP-seq
MIRT1021750	hsa-miR-4539	CLIP-seq
MIRT2002751	hsa-miR-506	CLIP-seq
MIRT2235740	hsa-miR-1200	CLIP-seq
MIRT2235741	hsa-miR-1972	CLIP-seq
MIRT2235742	hsa-miR-3074-3p	CLIP-seq
MIRT2235743	hsa-miR-4251	CLIP-seq
MIRT2235744	hsa-miR-4324	CLIP-seq
MIRT2235745	hsa-miR-4650-5p	CLIP-seq
MIRT2235746	hsa-miR-4699-3p	CLIP-seq
MIRT2235747	hsa-miR-4717-5p	CLIP-seq
MIRT2235748	hsa-miR-4772-5p	CLIP-seq
MIRT1021751	hsa-miR-520d-5p	CLIP-seq
MIRT1021752	hsa-miR-524-5p	CLIP-seq
MIRT2235749	hsa-miR-539	CLIP-seq
MIRT2235750	hsa-miR-544b	CLIP-seq
MIRT2235751	hsa-miR-617	CLIP-seq
MIRT2235752	hsa-miR-642b	CLIP-seq
MIRT2235753	hsa-miR-665	CLIP-seq
MIRT2235740	hsa-miR-1200	CLIP-seq
MIRT2539668	hsa-miR-1256	CLIP-seq
MIRT2539669	hsa-miR-1260	CLIP-seq
MIRT2539670	hsa-miR-1260b	CLIP-seq
MIRT2539671	hsa-miR-127-5p	CLIP-seq
MIRT2539672	hsa-miR-1324	CLIP-seq
MIRT2539673	hsa-miR-135a	CLIP-seq
MIRT2539674	hsa-miR-135b	CLIP-seq
MIRT2539675	hsa-miR-188-3p	CLIP-seq
MIRT2539676	hsa-miR-3156-3p	CLIP-seq
MIRT2539677	hsa-miR-3671	CLIP-seq
MIRT2539678	hsa-miR-3682-5p	CLIP-seq
MIRT2235743	hsa-miR-4251	CLIP-seq
MIRT2235744	hsa-miR-4324	CLIP-seq
MIRT2539679	hsa-miR-4327	CLIP-seq
MIRT2539680	hsa-miR-4436b-3p	CLIP-seq
MIRT2539681	hsa-miR-4786-3p	CLIP-seq
MIRT2235749	hsa-miR-539	CLIP-seq
MIRT2235750	hsa-miR-544b	CLIP-seq
MIRT2539682	hsa-miR-582-5p	CLIP-seq
MIRT2539683	hsa-miR-587	CLIP-seq
MIRT2539684	hsa-miR-600	CLIP-seq
MIRT2539685	hsa-miR-607	CLIP-seq
MIRT2235751	hsa-miR-617	CLIP-seq
MIRT2235752	hsa-miR-642b	CLIP-seq
MIRT2539686	hsa-miR-662	CLIP-seq
MIRT2235753	hsa-miR-665	CLIP-seq
MIRT2235740	hsa-miR-1200	CLIP-seq
MIRT2539668	hsa-miR-1256	CLIP-seq
MIRT2539669	hsa-miR-1260	CLIP-seq
MIRT2539670	hsa-miR-1260b	CLIP-seq
MIRT2539671	hsa-miR-127-5p	CLIP-seq
MIRT2539672	hsa-miR-1324	CLIP-seq
MIRT2539673	hsa-miR-135a	CLIP-seq
MIRT2539674	hsa-miR-135b	CLIP-seq
MIRT2539675	hsa-miR-188-3p	CLIP-seq
MIRT2539676	hsa-miR-3156-3p	CLIP-seq
MIRT2539677	hsa-miR-3671	CLIP-seq
MIRT2539678	hsa-miR-3682-5p	CLIP-seq
MIRT2235743	hsa-miR-4251	CLIP-seq
MIRT2235744	hsa-miR-4324	CLIP-seq
MIRT2539679	hsa-miR-4327	CLIP-seq
MIRT2539680	hsa-miR-4436b-3p	CLIP-seq
MIRT2539681	hsa-miR-4786-3p	CLIP-seq
MIRT2235749	hsa-miR-539	CLIP-seq
MIRT2235750	hsa-miR-544b	CLIP-seq
MIRT2539682	hsa-miR-582-5p	CLIP-seq
MIRT2539683	hsa-miR-587	CLIP-seq
MIRT2539684	hsa-miR-600	CLIP-seq
MIRT2539685	hsa-miR-607	CLIP-seq
MIRT2235751	hsa-miR-617	CLIP-seq
MIRT2235752	hsa-miR-642b	CLIP-seq
MIRT2539686	hsa-miR-662	CLIP-seq
MIRT2235753	hsa-miR-665	CLIP-seq

Show/Hide all (6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005794	Component	Golgi apparatus	IBA
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
618399	24870	ENSG00000016864

Q68CQ7

Protein name

Glycosyltransferase 8 domain-containing protein 1 (EC 2.4.1.-)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01501	Glyco_transf_8	67 → 340	Glycosyl transferase family 8	Family

Sequence

MSFRKVNIIILVLAVALFLLVLHHNFLSLSSLLRNEVTDSGIVGPQPIDFVPNALRHAVD
GRQEEIPVVIAASEDRLGGAIAAINSIQHNTRSNVIFYIVTLNNTADHLRSWLNSDSLKS
IRYKIVNFDPKLLEGKVKEDPDQGESMKPLTFARFYLPILVPSAKKAIYMDDDVIVQGDI
LALYNTALKPGHAAAFSEDCDSASTKVVIRGAGNQYNYIGYLDYKKERIRKLSMKASTCS
FNPGVFVANLTEWKRQNITNQLEKWMKLNVEEGLYSRTLAGSITTPPLLIVFYQQHSTID
PMWNVRHLGSSAGKRYSPQFVKAAKLLHWNGHLKPWGRTASYTDVWEKWYIPDPTGKFNL
IRRYTEISNIK

Sequence length

371

Interactions

View interactions

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Frontotemporal dementia	Likely pathogenic	rs1308367710	RCV001848610	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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.
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLT8D1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30811981, 31653410, 31724708		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	30811981		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35525134	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	30811981, 31724708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28720891	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	22182935		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	BEFREE	31305325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASDB_DG	22763110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASDB_DG	22472876		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	24373612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	24373612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	31305325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24373612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	25939412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069, 30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	30664745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33963205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29483533, 30446647		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24114764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37277853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	24373612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GLT8D1 (glycosyltransferase 8 domain containing 1)