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    CASD1 CAS1 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 64921, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CASD1provided by HGNC
    Official Full Name
    CAS1 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:16014
    See related
    Ensembl:ENSG00000127995 MIM:611686; AllianceGenome:HGNC:16014
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Cas1; SOAT; Cas1p; C7orf12; NBLA04196
    Summary
    Enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity. Involved in carbohydrate metabolic process. Located in Golgi membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 10.9), brain (RPKM 10.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See CASD1 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (94509809..94634172)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (95745768..95875261)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (94139121..94186331)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene collagen type I alpha 2 chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18377 Neighboring gene RNA, U6 small nuclear 1328, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:94138406-94139394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:94139395-94140381 Neighboring gene uncharacterized LOC105375404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26288 Neighboring gene sarcoglycan epsilon Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:94269649-94270150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:94270151-94270650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:94284793-94285570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18381 Neighboring gene Sharpr-MPRA regulatory region 6132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26292 Neighboring gene paternally expressed 10 Neighboring gene RPS3A pseudogene 25

    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 human Cas1 protein: a sialic acid-specific O-acetyltransferase? Arming S, et al. Glycobiology, 2011 May. PMID 20947662, Free PMC Article
    2. Cas1p is a membrane protein necessary for the O-acetylation of the Cryptococcus neoformans capsular polysaccharide. Janbon G, et al. Mol Microbiol, 2001 Oct. PMID 11703667
    3. 9-O-Acetylation of sialic acids is catalysed by CASD1 via a covalent acetyl-enzyme intermediate. Baumann AM, et al. Nat Commun, 2015 Jul 14. PMID 26169044, Free PMC Article
    4. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Zimprich A, et al. Nat Genet, 2001 Sep. PMID 11528394
    5. Long noncoding RNA PiHL regulates p53 protein stability through GRWD1/RPL11/MDM2 axis in colorectal cancer. Deng X, et al. Theranostics, 2020. PMID 31903119, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CASD1 is a sialate O-acetyltransferase and serves as key enzyme in the biosynthesis of 9-O-acetylated sialoglycans.
      Title: 9-O-Acetylation of sialic acids is catalysed by CASD1 via a covalent acetyl-enzyme intermediate.
    2. human Cas1 protein is directly involved in O-acetylation of alpha2-8-linked sialic acids
      Title: The human Cas1 protein: a sialic acid-specific O-acetyltransferase?
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21213, FLJ21879, FLJ41901

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    N-acetylneuraminate (7)9-O-acetyltransferase; N-acetylneuraminate 9-O-acetyltransferase
    Names
    CAS1 domain-containing protein 1
    Capsule synthesis 1
    O-acetyltransferase
    WUGSC:H_GS542D18.2
    sialate O-acetyltransferase
    NP_001350355.1
    NP_001350356.1
    NP_001350357.1
    NP_075051.4
    XP_006716156.2
    XP_011514797.1
    XP_054214822.1
    XP_054214823.1

    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.

    mRNA and Protein(s)

    1. NM_001363426.1 → NP_001350355.1  N-acetylneuraminate (7)9-O-acetyltransferase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC002528, AC096662
      UniProtKB/TrEMBL
      B2RAS9, Q8WZ77
      Conserved Domains (1) summary
      pfam07779
      Location:156 → 632
      Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p

    2. NM_001363427.1 → NP_001350356.1  N-acetylneuraminate (7)9-O-acetyltransferase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC002528, AC096662
      Conserved Domains (1) summary
      pfam07779
      Location:25 → 501
      Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p

    3. NM_001363428.1 → NP_001350357.1  N-acetylneuraminate (7)9-O-acetyltransferase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC002528, AC096662
      Conserved Domains (1) summary
      pfam07779
      Location:114 → 590
      Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p

    4. NM_022900.5 → NP_075051.4  N-acetylneuraminate (7)9-O-acetyltransferase isoform 1

      See identical proteins and their annotated locations for NP_075051.4

      Status: VALIDATED

      Source sequence(s)
      AC002528, AF355594, AF397424, AK024866, AK123866, BC029543
      Consensus CDS
      CCDS5636.1
      UniProtKB/Swiss-Prot
      B3KW13, O14574, Q3LIE2, Q6P4R4, Q96PB1, Q9H6T9, Q9H770
      UniProtKB/TrEMBL
      B2RAS9, Q8WZ77
      Related
      ENSP00000297273.4, ENST00000297273.9
      Conserved Domains (2) summary
      pfam07779
      Location:299 → 775
      Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
      pfam13839
      Location:73 → 292
      PC-Esterase; GDSL/SGNH-like Acyl-Esterase family found in Pmr5 and Cas1p

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      94509809..94634172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516495.3 → XP_011514797.1  N-acetylneuraminate 9-O-acetyltransferase isoform X1

      UniProtKB/TrEMBL
      B2RAS9
      Conserved Domains (2) summary
      pfam07779
      Location:299 → 709
      Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
      pfam13839
      Location:73 → 292
      PC-Esterase; GDSL/SGNH-like Acyl-Esterase family found in Pmr5 and Cas1p

    2. XM_006716093.4 → XP_006716156.2  N-acetylneuraminate 9-O-acetyltransferase isoform X2

      Conserved Domains (2) summary
      pfam07779
      Location:299 → 454
      Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
      pfam13839
      Location:73 → 292
      PC-Esterase; GDSL/SGNH-like Acyl-Esterase family found in Pmr5 and Cas1p

    RNA

    1. XR_007060138.1 RNA Sequence

    2. XR_007060140.1 RNA Sequence

    3. XR_007060139.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      95745768..95875261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358847.1 → XP_054214822.1  N-acetylneuraminate 9-O-acetyltransferase isoform X1

    2. XM_054358848.1 → XP_054214823.1  N-acetylneuraminate 9-O-acetyltransferase isoform X2

    RNA

    1. XR_008487736.1 RNA Sequence

    2. XR_008487737.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PB1.1 GenPept UniProtKB/Swiss-Prot:Q96PB1

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