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

Gene ID: 64921, updated on 11-Apr-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; C7orf12; NBLA04196
Summary
Enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity. Involved in carbohydrate metabolic process. Is integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (94509809..94634172)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (95745768..95875261)
105.20220307 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 (10) 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)

Genotypes

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 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 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 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 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 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_2023_10

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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