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

Gene ID: 64921, updated on 21-Dec-2019

Summary

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
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
SOAT; C7orf12; NBLA04196
Expression
Ubiquitous expression in adrenal (RPKM 10.9), brain (RPKM 10.1) and 25 other tissues See more
Orthologs

Genomic context

See CASD1 in Genome Data Viewer
Location:
7q21.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (94509809..94633465)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (94138838..94186331)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene collagen type I alpha 2 chain Neighboring gene uncharacterized LOC105375404 Neighboring gene RNA, U6 small nuclear 1328, pseudogene Neighboring gene sarcoglycan epsilon Neighboring gene Sharpr-MPRA regulatory region 6132 Neighboring gene paternally expressed 10 Neighboring gene RPS3A pseudogene 25

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21213, FLJ21879, FLJ41901

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
N-acetylneuraminate 9-O-acetyltransferase
Names
CAS1 domain-containing protein 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_016868035.1

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.

mRNA and Protein(s)

  1. NM_001363426.1NP_001350355.1  N-acetylneuraminate 9-O-acetyltransferase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC002528, AC096662
    Conserved Domains (1) summary
    pfam07779
    Location:156632
    Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
  2. NM_001363427.1NP_001350356.1  N-acetylneuraminate 9-O-acetyltransferase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC002528, AC096662
    Conserved Domains (1) summary
    pfam07779
    Location:25501
    Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
  3. NM_001363428.1NP_001350357.1  N-acetylneuraminate 9-O-acetyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC002528, AC096662
    Conserved Domains (1) summary
    pfam07779
    Location:114590
    Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
  4. NM_022900.5NP_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
    Q96PB1
    UniProtKB/TrEMBL
    Q8WZ77
    Related
    ENSP00000297273.4, ENST00000297273.9
    Conserved Domains (2) summary
    pfam07779
    Location:299775
    Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
    pfam13839
    Location:73292
    PC-Esterase; GDSL/SGNH-like Acyl-Esterase family found in Pmr5 and Cas1p

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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
    94509809..94633465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516495.2XP_011514797.1  N-acetylneuraminate 9-O-acetyltransferase isoform X1

    Conserved Domains (2) summary
    pfam07779
    Location:299709
    Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
    pfam13839
    Location:73292
    PC-Esterase; GDSL/SGNH-like Acyl-Esterase family found in Pmr5 and Cas1p
  2. XM_017012546.2XP_016868035.1  N-acetylneuraminate 9-O-acetyltransferase isoform X5

    Conserved Domains (1) summary
    pfam07779
    Location:25501
    Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
  3. XM_006716093.3XP_006716156.2  N-acetylneuraminate 9-O-acetyltransferase isoform X3

    Conserved Domains (2) summary
    pfam07779
    Location:299454
    Cas1_AcylT; 10 TM Acyl Transferase domain found in Cas1p
    pfam13839
    Location:73292
    PC-Esterase; GDSL/SGNH-like Acyl-Esterase family found in Pmr5 and Cas1p
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