Gene/Proteome Database (LMPD)
LMPD ID
LMP006688
Gene ID
Species
Homo sapiens (Human)
Gene Name
arylsulfatase E (chondrodysplasia punctata 1)
Gene Symbol
Synonyms
ASE; CDPX; CDPX1; CDPXR
Chromosome
X
Map Location
Xp22.3
EC Number
3.1.6.-
Summary
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]
Orthologs
Proteins
| arylsulfatase E isoform 1 | |
|---|---|
| Refseq ID | NP_001269557 |
| Protein GI | 157266309 |
| UniProt ID | F5GYY5 |
| mRNA ID | NM_001282628 |
| Length | 589 |
| RefSeq Status | REVIEWED |
| MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMADDLGIGDIGCYGNNTMRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASGGLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCHHPLHHGFDHFYGMPFSLMGDCARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPVSWMPVIWSALSAVLLLASSYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVASFLKRNKHGPFLLFVSFLHVHIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYFTSDHGGSLENQLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVRLAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCERFLHAARWHQRDRGTMWKVHFVTPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHILTPASEPVFYQVMERVQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGPFPLCWCLREDDPQ | |
| arylsulfatase E isoform 2 precursor | |
|---|---|
| Refseq ID | NP_000038 |
| Protein GI | 157266309 |
| UniProt ID | P51690 |
| mRNA ID | NM_000047 |
| Length | 589 |
| RefSeq Status | REVIEWED |
| MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMADDLGIGDIGCYGNNTMRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASGGLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCHHPLHHGFDHFYGMPFSLMGDCARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPVSWMPVIWSALSAVLLLASSYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVASFLKRNKHGPFLLFVSFLHVHIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYFTSDHGGSLENQLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVRLAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCERFLHAARWHQRDRGTMWKVHFVTPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHILTPASEPVFYQVMERVQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGPFPLCWCLREDDPQ | |
| arylsulfatase E isoform 3 | |
|---|---|
| Refseq ID | NP_001269560 |
| Protein GI | 157266309 |
| UniProt ID | F5H324 |
| mRNA ID | NM_001282631 |
| Length | 589 |
| RefSeq Status | REVIEWED |
| MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMADDLGIGDIGCYGNNTMRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASGGLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCHHPLHHGFDHFYGMPFSLMGDCARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPVSWMPVIWSALSAVLLLASSYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVASFLKRNKHGPFLLFVSFLHVHIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYFTSDHGGSLENQLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVRLAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCERFLHAARWHQRDRGTMWKVHFVTPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHILTPASEPVFYQVMERVQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGPFPLCWCLREDDPQ | |
| sig_peptide: 1..31 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 3393 peptide sequence: MLHLHHSCLCFRSWLPAMLAVLLSLAPSASS mat_peptide: 32..589 product: arylsulfatase E isoform 2 calculated_mol_wt: 62294 peptide sequence: DISASRPNILLLMADDLGIGDIGCYGNNTMRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASGGLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCHHPLHHGFDHFYGMPFSLMGDCARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPVSWMPVIWSALSAVLLLASSYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVASFLKRNKHGPFLLFVSFLHVHIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYFTSDHGGSLENQLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVRLAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCERFLHAARWHQRDRGTMWKVHFVTPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHILTPASEPVFYQVMERVQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGPFPLCWCLREDDPQ | |
Gene Information
Entrez Gene ID
Gene Name
arylsulfatase E (chondrodysplasia punctata 1)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005794 | IEA:UniProtKB-KW | C | Golgi apparatus |
| GO:0005788 | TAS:Reactome | C | endoplasmic reticulum lumen |
| GO:0070062 | IDA:UniProt | C | extracellular vesicular exosome |
| GO:0004065 | TAS:ProtInc | F | arylsulfatase activity |
| GO:0046872 | IEA:UniProtKB-KW | F | metal ion binding |
| GO:0044267 | TAS:Reactome | P | cellular protein metabolic process |
| GO:0006687 | TAS:Reactome | P | glycosphingolipid metabolic process |
| GO:0043687 | TAS:Reactome | P | post-translational protein modification |
| GO:0001501 | TAS:ProtInc | P | skeletal system development |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006665 | TAS:Reactome | P | sphingolipid metabolic process |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_116105 | Glycosphingolipid metabolism |
| REACT_19323 | Sphingolipid metabolism |
| REACT_121036 | The activation of arylsulfatases |
Domain Information
UniProt Annotations
Entry Information
Gene Name
arylsulfatase E (chondrodysplasia punctata 1)
Protein Entry
ARSE_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Biophysicochemical Properties | pH dependence: Optimum pH is 7.; Temperature dependence: Almost completely inactivated after 10 minutes at 50 degrees Celsius.; |
| Cofactor | Name=Ca(2+); Xref=ChEBI |
| Disease | Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM |
| Enzyme Regulation | Inhibited by millimolar concentrations of warfarin. |
| Function | May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates. |
| Ptm | N-glycosylated. |
| Ptm | The conversion to 3-oxoalanine (also known as C- formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. |
| Similarity | Belongs to the sulfatase family. |
| Subcellular Location | Golgi apparatus, Golgi stack. |
| Tissue Specificity | Expressed in the pancreas, liver and kidney. |
Identical and Related Proteins
Unique RefSeq proteins for LMP006688 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 157266309 | RefSeq | NP_001269557 | 589 | arylsulfatase E isoform 1 |
| 157266309 | RefSeq | NP_000038 | 589 | arylsulfatase E isoform 2 precursor |
| 157266309 | RefSeq | NP_001269560 | 589 | arylsulfatase E isoform 3 |
Identical Sequences to LMP006688 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:157266309 | DBBJ | BAD96919.1 | 589 | arylsulfatase E precursor variant, partial [Homo sapiens] |
| GI:157266309 | DBBJ | BAD96919.1 | 589 | arylsulfatase E precursor variant, partial [Homo sapiens] |
| GI:157266309 | DBBJ | BAD96919.1 | 589 | arylsulfatase E precursor variant, partial [Homo sapiens] |
| GI:157266309 | GenBank | EAW98717.1 | 589 | arylsulfatase E (chondrodysplasia punctata 1), isoform CRA_a [Homo sapiens] |
| GI:157266309 | GenBank | EAW98717.1 | 589 | arylsulfatase E (chondrodysplasia punctata 1), isoform CRA_a [Homo sapiens] |
| GI:157266309 | GenBank | EAW98717.1 | 589 | arylsulfatase E (chondrodysplasia punctata 1), isoform CRA_a [Homo sapiens] |
| GI:157266309 | GenBank | ADA19473.1 | 589 | Sequence 1297 from patent US 7608413 |
| GI:157266309 | GenBank | ADA19473.1 | 589 | Sequence 1297 from patent US 7608413 |
| GI:157266309 | GenBank | ADA19473.1 | 589 | Sequence 1297 from patent US 7608413 |
| GI:157266309 | GenBank | AEN35369.1 | 589 | Sequence 1297 from patent US 7998689 |
| GI:157266309 | GenBank | AEN35369.1 | 589 | Sequence 1297 from patent US 7998689 |
| GI:157266309 | GenBank | AEN35369.1 | 589 | Sequence 1297 from patent US 7998689 |
| GI:157266309 | RefSeq | XP_005274576.1 | 589 | PREDICTED: arylsulfatase E isoform X3 [Homo sapiens] |
| GI:157266309 | RefSeq | XP_005274576.1 | 589 | PREDICTED: arylsulfatase E isoform X3 [Homo sapiens] |
| GI:157266309 | RefSeq | XP_005274576.1 | 589 | PREDICTED: arylsulfatase E isoform X3 [Homo sapiens] |
| GI:157266309 | SwissProt | P51690.2 | 589 | RecName: Full=Arylsulfatase E; Short=ASE; Flags: Precursor [Homo sapiens] |
| GI:157266309 | SwissProt | P51690.2 | 589 | RecName: Full=Arylsulfatase E; Short=ASE; Flags: Precursor [Homo sapiens] |
| GI:157266309 | SwissProt | P51690.2 | 589 | RecName: Full=Arylsulfatase E; Short=ASE; Flags: Precursor [Homo sapiens] |
Related Sequences to LMP006688 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:157266309 | GenBank | AAI30439.1 | 589 | Arylsulfatase E (chondrodysplasia punctata 1) [Homo sapiens] |
| GI:157266309 | GenBank | AAI30439.1 | 589 | Arylsulfatase E (chondrodysplasia punctata 1) [Homo sapiens] |
| GI:157266309 | GenBank | AAI30439.1 | 589 | Arylsulfatase E (chondrodysplasia punctata 1) [Homo sapiens] |
| GI:157266309 | GenBank | ACM83932.1 | 611 | Sequence 9430 from patent US 6812339 |
| GI:157266309 | GenBank | ACM83932.1 | 611 | Sequence 9430 from patent US 6812339 |
| GI:157266309 | GenBank | ACM83932.1 | 611 | Sequence 9430 from patent US 6812339 |
| GI:157266309 | GenBank | ADR83078.1 | 589 | arylsulfatase E (chondrodysplasia punctata 1), partial [synthetic construct] |
| GI:157266309 | GenBank | ADR83078.1 | 589 | arylsulfatase E (chondrodysplasia punctata 1), partial [synthetic construct] |
| GI:157266309 | GenBank | ADR83078.1 | 589 | arylsulfatase E (chondrodysplasia punctata 1), partial [synthetic construct] |
| GI:157266309 | GenBank | AEN35370.1 | 589 | Sequence 1298 from patent US 7998689 |
| GI:157266309 | GenBank | AEN35370.1 | 589 | Sequence 1298 from patent US 7998689 |
| GI:157266309 | GenBank | AEN35370.1 | 589 | Sequence 1298 from patent US 7998689 |
| GI:157266309 | GenBank | AIC54034.1 | 589 | ARSE, partial [synthetic construct] |
| GI:157266309 | GenBank | AIC54034.1 | 589 | ARSE, partial [synthetic construct] |
| GI:157266309 | GenBank | AIC54034.1 | 589 | ARSE, partial [synthetic construct] |
| GI:157266309 | RefSeq | XP_005274575.1 | 598 | PREDICTED: arylsulfatase E isoform X2 [Homo sapiens] |
| GI:157266309 | RefSeq | XP_005274575.1 | 598 | PREDICTED: arylsulfatase E isoform X2 [Homo sapiens] |
| GI:157266309 | RefSeq | XP_005274575.1 | 598 | PREDICTED: arylsulfatase E isoform X2 [Homo sapiens] |