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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29071
Gene name	C1GALT1 specific chaperone 1
Gene symbol	C1GALT1C1
Synonyms (NCBI Gene)	AHUS8C1GALT2C38H2-L1COSMCHSPC067MST143TNPS
Chromosome	X
Chromosome location	Xq24
Summary	This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lack

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs17261572	A>T	Pathogenic	Coding sequence variant, missense variant
rs137853598	G>A	Pathogenic	Coding sequence variant, stop gained
rs137853599	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514537	A>G	Pathogenic	Missense variant, coding sequence variant
rs587776928	C>G	Pathogenic	Missense variant, initiator codon variant

Show/Hide all (68)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028779	hsa-miR-26b-5p	Microarray	19088304
MIRT718801	hsa-miR-3622a-3p	HITS-CLIP	19536157
MIRT718800	hsa-miR-3622b-3p	HITS-CLIP	19536157
MIRT718799	hsa-miR-6765-3p	HITS-CLIP	19536157
MIRT718798	hsa-miR-544b	HITS-CLIP	19536157
MIRT718797	hsa-miR-7162-3p	HITS-CLIP	19536157
MIRT718796	hsa-miR-6087	HITS-CLIP	19536157
MIRT718795	hsa-miR-3656	HITS-CLIP	19536157
MIRT718801	hsa-miR-3622a-3p	HITS-CLIP	19536157
MIRT718800	hsa-miR-3622b-3p	HITS-CLIP	19536157
MIRT718799	hsa-miR-6765-3p	HITS-CLIP	19536157
MIRT718798	hsa-miR-544b	HITS-CLIP	19536157
MIRT718797	hsa-miR-7162-3p	HITS-CLIP	19536157
MIRT718796	hsa-miR-6087	HITS-CLIP	19536157
MIRT718795	hsa-miR-3656	HITS-CLIP	19536157
MIRT718801	hsa-miR-3622a-3p	HITS-CLIP	19536157
MIRT718800	hsa-miR-3622b-3p	HITS-CLIP	19536157
MIRT718799	hsa-miR-6765-3p	HITS-CLIP	19536157
MIRT718798	hsa-miR-544b	HITS-CLIP	19536157
MIRT718797	hsa-miR-7162-3p	HITS-CLIP	19536157
MIRT718796	hsa-miR-6087	HITS-CLIP	19536157
MIRT718795	hsa-miR-3656	HITS-CLIP	19536157
MIRT718801	hsa-miR-3622a-3p	HITS-CLIP	19536157
MIRT718800	hsa-miR-3622b-3p	HITS-CLIP	19536157
MIRT718799	hsa-miR-6765-3p	HITS-CLIP	19536157
MIRT718798	hsa-miR-544b	HITS-CLIP	19536157
MIRT718797	hsa-miR-7162-3p	HITS-CLIP	19536157
MIRT718796	hsa-miR-6087	HITS-CLIP	19536157
MIRT718795	hsa-miR-3656	HITS-CLIP	19536157
MIRT839212	hsa-miR-1227	CLIP-seq
MIRT839213	hsa-miR-1273g	CLIP-seq
MIRT839214	hsa-miR-147	CLIP-seq
MIRT839215	hsa-miR-1825	CLIP-seq
MIRT839216	hsa-miR-3144-3p	CLIP-seq
MIRT839217	hsa-miR-3911	CLIP-seq
MIRT839218	hsa-miR-4715-3p	CLIP-seq
MIRT839219	hsa-miR-548c-3p	CLIP-seq
MIRT839220	hsa-miR-548n	CLIP-seq
MIRT839221	hsa-miR-548t	CLIP-seq
MIRT839222	hsa-miR-561	CLIP-seq
MIRT839223	hsa-miR-644	CLIP-seq
MIRT2490677	hsa-miR-1261	CLIP-seq
MIRT839213	hsa-miR-1273g	CLIP-seq
MIRT839214	hsa-miR-147	CLIP-seq
MIRT839215	hsa-miR-1825	CLIP-seq
MIRT2490678	hsa-miR-190	CLIP-seq
MIRT2490679	hsa-miR-190b	CLIP-seq
MIRT839216	hsa-miR-3144-3p	CLIP-seq
MIRT2490680	hsa-miR-3201	CLIP-seq
MIRT2490681	hsa-miR-3668	CLIP-seq
MIRT839217	hsa-miR-3911	CLIP-seq
MIRT2490682	hsa-miR-4703-3p	CLIP-seq
MIRT839218	hsa-miR-4715-3p	CLIP-seq
MIRT2490683	hsa-miR-4742-3p	CLIP-seq
MIRT2490684	hsa-miR-4791	CLIP-seq
MIRT2490685	hsa-miR-494	CLIP-seq
MIRT839223	hsa-miR-644	CLIP-seq
MIRT839218	hsa-miR-4715-3p	CLIP-seq
MIRT2490677	hsa-miR-1261	CLIP-seq
MIRT2490678	hsa-miR-190	CLIP-seq
MIRT2490679	hsa-miR-190b	CLIP-seq
MIRT2490680	hsa-miR-3201	CLIP-seq
MIRT2490681	hsa-miR-3668	CLIP-seq
MIRT2490682	hsa-miR-4703-3p	CLIP-seq
MIRT839218	hsa-miR-4715-3p	CLIP-seq
MIRT2490683	hsa-miR-4742-3p	CLIP-seq
MIRT2490684	hsa-miR-4791	CLIP-seq
MIRT2490685	hsa-miR-494	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	21496458
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IMP	21383503
GO:0006493	Process	Protein O-linked glycosylation	IMP	37216524
GO:0016020	Component	Membrane	IEA
GO:0016263	Function	Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IMP	37216524
GO:0030168	Process	Platelet activation	IEA
GO:0036344	Process	Platelet morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
300611	24338	ENSG00000171155

Q96EU7

Protein name

C1GALT1-specific chaperone 1 (C38H2-like protein 1) (C38H2-L1) (Core 1 beta1,3-galactosyltransferase 2) (C1Gal-T2) (C1GalT2) (Core 1 beta3-Gal-T2) (Core 1 beta3-galactosyltransferase-specific molecular chaperone)

Protein function

Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/s

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus

Sequence

MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQAPNKEDILKISEDER
MELSKSFRVYCIILVKPKDVSLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWL
MMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLKKDPSQPFYLGHTIKSGDLEY
VGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQLAVCLKYAGVFAENAEDA
DGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGLTPNQMHVMMYGVYRLRAFG
HIFNDALVFLPPNGSDND

Sequence length

318

Interactions

View interactions

	KEGG		Reactome
	Mucin type O-glycan biosynthesis Other types of O-glycan biosynthesis Metabolic pathways		Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) O-linked glycosylation of mucins

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal protein O-linked glycosylation	Likely pathogenic	rs2521331868	RCV002286437	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical hemolytic-uremic syndrome	Pathogenic	rs2521331057	RCV003236752	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	Likely pathogenic; Pathogenic	rs2521331868, rs2521331057	RCV003313265 RCV003313325	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyagglutinable erythrocyte syndrome	Pathogenic	rs137853598, rs137853599, rs397514537, rs587776928, rs778819609	RCV000011538 RCV000011540 RCV000032773 RCV000032774 RCV001095792	★★★★★ ★★★★★ 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.
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C1GALT1C1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC-UREMIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26021314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	36599939	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	LHGDN	18840896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly type A1	Brachydactyly	Pubtator	28187132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24039759, 25951175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18321367, 18339842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26045765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26045765, 29999571, 30115016, 30637914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31633299	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37216524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26927062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	12464682, 23035125, 24942185, 26063800, 26545495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	16238683, 25647400	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37216524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	23424651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	23424651	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	36599939, 37216524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	16238683, 17228361, 18202089, 18840896, 19778426, 25647400, 27796698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	23424651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25479423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	16238683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27465795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating 4	Hypomyelinating leukodystrophy	Pubtator	37216524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31471227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26927062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26021314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26927062, 31672936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26045765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26021314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26021314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	16238683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	23424651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	37216524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tn Syndrome	Polyagglutinable erythrocyte syndrome	UNIPROT_DG	16251947, 18537974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tn Syndrome	Polyagglutinable erythrocyte syndrome	GENOMICS_ENGLAND_DG	27536663, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tn Syndrome	Polyagglutinable erythrocyte syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tn Syndrome	Polyagglutinable erythrocyte syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	25479423		★★★★★ ★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	25479423		★★★★★ ★☆☆☆☆ Found in Text Mining only

C1GALT1C1 (C1GALT1 specific chaperone 1)