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ARSF arylsulfatase F [ Homo sapiens (human) ]

Gene ID: 416, updated on 5-Mar-2024

Summary

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Official Symbol
ARSFprovided by HGNC
Official Full Name
arylsulfatase Fprovided by HGNC
Primary source
HGNC:HGNC:721
See related
Ensembl:ENSG00000062096 MIM:300003; AllianceGenome:HGNC:721
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
ASF
Summary
This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011]
Expression
Biased expression in kidney (RPKM 3.3), skin (RPKM 2.1) and 5 other tissues See more
Orthologs
all
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Genomic context

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See ARSF in Genome Data Viewer
Location:
Xp22.33
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (3040234..3112727)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (2653638..2726133)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2958275..3030768)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2878567-2879390 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2879391-2880216 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:2881867-2882690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29373 Neighboring gene arylsulfatase L Neighboring gene arylsulfatase family member H Neighboring gene RNA, 7SL, cytoplasmic 578, pseudogene Neighboring gene ribosomal protein S24 pseudogene 21 Neighboring gene MPRA-validated peak7351 silencer Neighboring gene NANOG hESC enhancer GRCh37_chrX:3102859-3103394 Neighboring gene long intergenic non-protein coding RNA 1546

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The sulfatase gene family. Parenti G, et al. Curr Opin Genet Dev, 1997 Jun. PMID 9229115
  2. A serine/arginine-rich domain in the human U1 70k protein is necessary and sufficient for ASF/SF2 binding. Cao W, et al. J Biol Chem, 1998 Aug 7. PMID 9685421
  3. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Puca AA, et al. Genomics, 1997 Jun 1. PMID 9192838
  4. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Franco B, et al. Cell, 1995 Apr 7. PMID 7720070
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arylsulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables arylsulfatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
arylsulfatase F
NP_001188467.1
NP_001188468.1
NP_004033.2
XP_011543824.1
XP_011543825.1
XP_011543826.1
XP_016885017.1
XP_054183053.1
XP_054183054.1
XP_054183055.1
XP_054183056.1

NCBI Reference Sequences (RefSeq)

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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_012822.2 RefSeqGene

    Range
    6238..77494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001201538.2 → NP_001188467.1  arylsulfatase F precursor

    See identical proteins and their annotated locations for NP_001188467.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC112653, BP274206, BP277542, BX107362, DA628671
    Consensus CDS
    CCDS14123.1
    UniProtKB/Swiss-Prot
    P54793, Q8TCC5
    Conserved Domains (1) summary
    cl23718
    Location:29 → 553
    ALP_like; alkaline phosphatases and sulfatases

  2. NM_001201539.2 → NP_001188468.1  arylsulfatase F precursor

    See identical proteins and their annotated locations for NP_001188468.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC112653, BC022389
    Consensus CDS
    CCDS14123.1
    UniProtKB/Swiss-Prot
    P54793, Q8TCC5
    Related
    ENSP00000370519.1, ENST00000381127.6
    Conserved Domains (1) summary
    cl23718
    Location:29 → 553
    ALP_like; alkaline phosphatases and sulfatases

  3. NM_004042.5 → NP_004033.2  arylsulfatase F precursor

    See identical proteins and their annotated locations for NP_004033.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest variant. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC112653, DA156994, X97868
    Consensus CDS
    CCDS14123.1
    UniProtKB/Swiss-Prot
    P54793, Q8TCC5
    Related
    ENSP00000352319.2, ENST00000359361.2
    Conserved Domains (1) summary
    cl23718
    Location:29 → 553
    ALP_like; alkaline phosphatases and sulfatases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    3040234..3112727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545522.2 → XP_011543824.1  arylsulfatase F isoform X1

    Conserved Domains (2) summary
    COG3119
    Location:44 → 560
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:46 → 570
    ALP_like; alkaline phosphatases and sulfatases

  2. XM_011545523.2 → XP_011543825.1  arylsulfatase F isoform X2

    Conserved Domains (2) summary
    COG3119
    Location:44 → 531
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:46 → 541
    ALP_like; alkaline phosphatases and sulfatases

  3. XM_011545524.2 → XP_011543826.1  arylsulfatase F isoform X3

    Conserved Domains (2) summary
    COG3119
    Location:44 → 194
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:46 → 425
    ALP_like; alkaline phosphatases and sulfatases

  4. XM_017029528.1 → XP_016885017.1  arylsulfatase F isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    2653638..2726133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327078.1 → XP_054183053.1  arylsulfatase F isoform X1

  2. XM_054327079.1 → XP_054183054.1  arylsulfatase F isoform X2

  3. XM_054327080.1 → XP_054183055.1  arylsulfatase F isoform X3

  4. XM_054327081.1 → XP_054183056.1  arylsulfatase F isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54793.4 GenPept UniProtKB/Swiss-Prot:P54793

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