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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55790
Gene name	Chondroitin sulfate N-acetylgalactosaminyltransferase 1
Gene symbol	CSGALNACT1
Synonyms (NCBI Gene)	CSGalNAcT-1ChGnChGn-1SDJLABAbeta4GalNAcT
Chromosome	8
Chromosome location	8p21.3
Summary	This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for no

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Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017694	hsa-miR-335-5p	Microarray	18185580
MIRT022557	hsa-miR-124-3p	Microarray	18668037
MIRT051118	hsa-miR-16-5p	CLASH	23622248
MIRT045696	hsa-miR-126-5p	CLASH	23622248
MIRT720894	hsa-miR-10a-5p	HITS-CLIP	19536157
MIRT720893	hsa-miR-10b-5p	HITS-CLIP	19536157
MIRT720892	hsa-miR-6871-3p	HITS-CLIP	19536157
MIRT720891	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT720890	hsa-miR-4459	HITS-CLIP	19536157
MIRT720889	hsa-miR-665	HITS-CLIP	19536157
MIRT720888	hsa-miR-4786-3p	HITS-CLIP	19536157
MIRT720887	hsa-miR-3663-3p	HITS-CLIP	19536157
MIRT720886	hsa-miR-765	HITS-CLIP	19536157
MIRT538335	hsa-miR-199b-5p	PAR-CLIP	22012620
MIRT538334	hsa-miR-199a-5p	PAR-CLIP	22012620
MIRT538333	hsa-miR-4255	PAR-CLIP	22012620
MIRT538332	hsa-miR-1250-3p	PAR-CLIP	22012620
MIRT538331	hsa-miR-153-5p	PAR-CLIP	22012620
MIRT538330	hsa-miR-1825	PAR-CLIP	22012620
MIRT538329	hsa-miR-3925-3p	PAR-CLIP	22012620
MIRT538328	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT538327	hsa-miR-616-3p	PAR-CLIP	22012620
MIRT538326	hsa-miR-124-5p	PAR-CLIP	22012620
MIRT538325	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT538324	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT538323	hsa-miR-6749-3p	PAR-CLIP	22012620
MIRT538322	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT538321	hsa-miR-1238-3p	PAR-CLIP	22012620
MIRT720894	hsa-miR-10a-5p	HITS-CLIP	19536157
MIRT720893	hsa-miR-10b-5p	HITS-CLIP	19536157
MIRT720892	hsa-miR-6871-3p	HITS-CLIP	19536157
MIRT720891	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT720890	hsa-miR-4459	HITS-CLIP	19536157
MIRT720889	hsa-miR-665	HITS-CLIP	19536157
MIRT720888	hsa-miR-4786-3p	HITS-CLIP	19536157
MIRT720887	hsa-miR-3663-3p	HITS-CLIP	19536157
MIRT720886	hsa-miR-765	HITS-CLIP	19536157
MIRT538335	hsa-miR-199b-5p	PAR-CLIP	22012620
MIRT538334	hsa-miR-199a-5p	PAR-CLIP	22012620
MIRT538333	hsa-miR-4255	PAR-CLIP	22012620
MIRT538332	hsa-miR-1250-3p	PAR-CLIP	22012620
MIRT538331	hsa-miR-153-5p	PAR-CLIP	22012620
MIRT538330	hsa-miR-1825	PAR-CLIP	22012620
MIRT538329	hsa-miR-3925-3p	PAR-CLIP	22012620
MIRT538328	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT538327	hsa-miR-616-3p	PAR-CLIP	22012620
MIRT538326	hsa-miR-124-5p	PAR-CLIP	22012620
MIRT538325	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT538324	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT538323	hsa-miR-6749-3p	PAR-CLIP	22012620
MIRT538322	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT538321	hsa-miR-1238-3p	PAR-CLIP	22012620
MIRT911818	hsa-miR-1273g	CLIP-seq
MIRT911819	hsa-miR-3150b-3p	CLIP-seq
MIRT911820	hsa-miR-338-5p	CLIP-seq
MIRT911821	hsa-miR-3682-5p	CLIP-seq
MIRT911822	hsa-miR-4303	CLIP-seq
MIRT911823	hsa-miR-4649-3p	CLIP-seq
MIRT911824	hsa-miR-4689	CLIP-seq
MIRT911825	hsa-miR-4784	CLIP-seq
MIRT911826	hsa-miR-513b	CLIP-seq
MIRT2386500	hsa-miR-1261	CLIP-seq
MIRT2386501	hsa-miR-3165	CLIP-seq
MIRT2386502	hsa-miR-342-5p	CLIP-seq
MIRT2386503	hsa-miR-4651	CLIP-seq
MIRT2386504	hsa-miR-4664-5p	CLIP-seq
MIRT2386505	hsa-miR-548ae	CLIP-seq
MIRT2386506	hsa-miR-548aj	CLIP-seq
MIRT2386507	hsa-miR-548am	CLIP-seq
MIRT2386508	hsa-miR-548p	CLIP-seq
MIRT2386509	hsa-miR-548x	CLIP-seq
MIRT2386510	hsa-miR-608	CLIP-seq
MIRT2386500	hsa-miR-1261	CLIP-seq
MIRT2509525	hsa-miR-1271	CLIP-seq
MIRT2509526	hsa-miR-182	CLIP-seq
MIRT2509527	hsa-miR-183	CLIP-seq
MIRT2509528	hsa-miR-3189-3p	CLIP-seq
MIRT2509529	hsa-miR-3201	CLIP-seq
MIRT2509530	hsa-miR-3545-3p	CLIP-seq
MIRT2509531	hsa-miR-3622b-5p	CLIP-seq
MIRT2509532	hsa-miR-371-5p	CLIP-seq
MIRT2509533	hsa-miR-371b-5p	CLIP-seq
MIRT2509534	hsa-miR-3973	CLIP-seq
MIRT2509535	hsa-miR-4310	CLIP-seq
MIRT2509536	hsa-miR-450b-5p	CLIP-seq
MIRT2509537	hsa-miR-4642	CLIP-seq
MIRT2509538	hsa-miR-4742-5p	CLIP-seq
MIRT2509539	hsa-miR-4766-5p	CLIP-seq
MIRT2509540	hsa-miR-4778-3p	CLIP-seq
MIRT2509541	hsa-miR-4791	CLIP-seq
MIRT2509542	hsa-miR-507	CLIP-seq
MIRT2509543	hsa-miR-520g	CLIP-seq
MIRT2509544	hsa-miR-520h	CLIP-seq
MIRT2509545	hsa-miR-548l	CLIP-seq
MIRT2509546	hsa-miR-557	CLIP-seq
MIRT2509547	hsa-miR-96	CLIP-seq
MIRT2509536	hsa-miR-450b-5p	CLIP-seq
MIRT2509538	hsa-miR-4742-5p	CLIP-seq
MIRT2509542	hsa-miR-507	CLIP-seq
MIRT2509546	hsa-miR-557	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	11514575
GO:0000139	Component	Golgi membrane	TAS
GO:0001958	Process	Endochondral ossification	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IDA	11514575
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IEA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	ISS	11788602
GO:0008955	Function	Peptidoglycan glycosyltransferase activity	IDA	11514575
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	NAS	11514575
GO:0015020	Function	Glucuronosyltransferase activity	IDA	11514575
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019276	Process	UDP-N-acetylgalactosamine metabolic process	IDA	11514575
GO:0030166	Process	Proteoglycan biosynthetic process	ISS	11788602
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030210	Process	Heparin proteoglycan biosynthetic process	NAS	11514575
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0046398	Process	UDP-glucuronate metabolic process	IDA	11514575
GO:0046872	Function	Metal ion binding	IEA
GO:0046872	Function	Metal ion binding	NAS	12163485
GO:0047237	Function	Glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA	12163485
GO:0047237	Function	Glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IBA
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA	12163485
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	TAS
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IDA	11514575, 12163485
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	ISS	11788602
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	TAS
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	ISS	11788602
GO:0050654	Process	Chondroitin sulfate proteoglycan metabolic process	IEA
GO:0051216	Process	Cartilage development	IEA

MIM	HGNC	e!Ensembl
616615	24290	ENSG00000147408

Q8TDX6

Protein name

Chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CsGalNAcT-1) (EC 2.4.1.174) (Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1) (Beta4GalNAcT-1)

Protein function

Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important rol

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05679	CHGN	58 → 507	Chondroitin N-acetylgalactosaminyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous, with the highest levels in placenta, thyroid, bladder, prostate and adrenal gland. Detected at low levels in the other tissues examined. {ECO:0000269|PubMed:11788602, ECO:0000269|PubMed:12163485, ECO:0000269|PubMed:12446672

Sequence

MMMVRRGLLAWISRVVVLLVLLCCAISVLYMLACTPKGDEEQLALPRANSPTGKEGYQAV
LQEWEEQHRNYVSSLKRQIAQLKEELQERSEQLRNGQYQASDAAGLGLDRSPPEKTQADL
LAFLHSQVDKAEVNAGVKLATEYAAVPFDSFTLQKVYQLETGLTRHPEEKPVRKDKRDEL
VEAIESALETLNSPAENSPNHRPYTASDFIEGIYRTERDKGTLYELTFKGDHKHEFKRLI
LFRPFGPIMKVKNEKLNMANTLINVIVPLAKRVDKFRQFMQNFREMCIEQDGRVHLTVVY
FGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVD
IYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRD
FGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKR
CMDELTPEQYKMCMQSKAMNEASHGQLGMLVFRHEIEAHLRKQKQKTSSKKT

Sequence length

532

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways		Chondroitin sulfate biosynthesis

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
Skeletal dysplasia, mild, with joint laxity and advanced bone age	Pathogenic; Likely pathogenic	rs1034099077, rs2538803620, rs2077140472, rs2054868908, rs201151136	RCV002289031 RCV003236644 RCV001090036 RCV001090038 RCV001281093	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (26)

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.
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CSGALNACT1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC FEVER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anorexia Nervosa	Anorexia	BEFREE	27367046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	35703085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17119850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	23748413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17119850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	31705726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	31705726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Desbuquois syndrome	Desbuquois Syndrome	BEFREE	27599773		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28514734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	27599773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	31705726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	21160489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	30148873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	30148873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	28514734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	17119850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	31705726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17119850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17119850		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17119850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26806424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	21160489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	15176972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23748413	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	27599773, 30459452, 31325655, 31705726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	32281310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	15176972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36681830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	27599773, 30459452, 31325655, 31705726		★★★★★ ★☆☆☆☆ Found in Text Mining only

CSGALNACT1 (chondroitin sulfate N-acetylgalactosaminyltransferase 1)