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CHST12 carbohydrate sulfotransferase 12 [ Homo sapiens (human) ]

Gene ID: 55501, updated on 11-Sep-2019

Summary

Official Symbol
CHST12provided by HGNC
Official Full Name
carbohydrate sulfotransferase 12provided by HGNC
Primary source
HGNC:HGNC:17423
See related
Ensembl:ENSG00000136213 MIM:610129
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C4S-2; C4ST2; C4ST-2
Summary
The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in fat (RPKM 6.6), spleen (RPKM 6.2) and 25 other tissues See more
Orthologs

Genomic context

See CHST12 in Genome Data Viewer
Location:
7p22.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (2403489..2448484)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2443195..2474242)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene kinesin family member pseudogene Neighboring gene neugrin, neurite outgrowth associated pseudogene Neighboring gene galectin-related inter-fiber protein Neighboring gene uncharacterized LOC107986758

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00049, AC004840.9

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-phosphoadenosine 5'-phosphosulfate binding NAS
Non-traceable Author Statement
more info
PubMed 
chondroitin 4-sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chondroitin 4-sulfotransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
carbohydrate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
chondroitin sulfate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chondroitin sulfate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
chondroitin sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
dermatan sulfate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of Golgi membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
carbohydrate sulfotransferase 12
Names
carbohydrate (chondroitin 4) sulfotransferase 12
chondroitin 4-O-sulfotransferase 2
chondroitin 4-sulfotransferase 2
sulfotransferase Hlo
NP_001230723.1
NP_001230724.1
NP_061111.1
XP_011513745.1
XP_011513746.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029854.1 RefSeqGene

    Range
    5001..36048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243794.2NP_001230723.1  carbohydrate sulfotransferase 12

    See identical proteins and their annotated locations for NP_001230723.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC004840, AF239822, AY358574, BC095492
    Consensus CDS
    CCDS5333.1
    UniProtKB/Swiss-Prot
    Q9NRB3
    UniProtKB/TrEMBL
    A0A024R860
    Related
    ENSP00000258711.6, ENST00000258711.7
    Conserved Domains (1) summary
    pfam03567
    Location:160405
    Sulfotransfer_2; Sulfotransferase family
  2. NM_001243795.2NP_001230724.1  carbohydrate sulfotransferase 12

    See identical proteins and their annotated locations for NP_001230724.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate donor splice site at the 5' terminal non-coding exon, hence has a slightly longer 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC004840, AF239822, AY358574, DA078292
    Consensus CDS
    CCDS5333.1
    UniProtKB/Swiss-Prot
    Q9NRB3
    UniProtKB/TrEMBL
    A0A024R860
    Conserved Domains (1) summary
    pfam03567
    Location:160405
    Sulfotransfer_2; Sulfotransferase family
  3. NM_018641.5NP_061111.1  carbohydrate sulfotransferase 12

    See identical proteins and their annotated locations for NP_061111.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate donor splice site at the 5' terminal non-coding exon, hence has a slightly longer 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC004840, AF239822, AY358574, DA704587
    Consensus CDS
    CCDS5333.1
    UniProtKB/Swiss-Prot
    Q9NRB3
    UniProtKB/TrEMBL
    A0A024R860
    Related
    ENSP00000481912.1, ENST00000618655.2
    Conserved Domains (1) summary
    pfam03567
    Location:160405
    Sulfotransfer_2; Sulfotransferase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    2403489..2448484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515444.2XP_011513746.1  carbohydrate sulfotransferase 12 isoform X1

    See identical proteins and their annotated locations for XP_011513746.1

    UniProtKB/Swiss-Prot
    Q9NRB3
    UniProtKB/TrEMBL
    A0A024R860
    Conserved Domains (1) summary
    pfam03567
    Location:160405
    Sulfotransfer_2; Sulfotransferase family
  2. XM_011515443.2XP_011513745.1  carbohydrate sulfotransferase 12 isoform X1

    See identical proteins and their annotated locations for XP_011513745.1

    UniProtKB/Swiss-Prot
    Q9NRB3
    UniProtKB/TrEMBL
    A0A024R860
    Conserved Domains (1) summary
    pfam03567
    Location:160405
    Sulfotransfer_2; Sulfotransferase family

RNA

  1. XR_002956463.1 RNA Sequence

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