Seroatlas · Human Serome Atlas

CASD1

N-acetylneuraminate (7)9-O-acetyltransferase

Also known as: C7orf12, CASD1_HUMAN, FLJ21213, FLJ21879

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96PB1
Gene: CASD1
Ensembl: ENSG00000127995
Chromosome: 7
Canonical length: 797 aa
Protein class: Enzymes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

Enables N-acetylneuraminate 9-O-acetyltransferase activity. Involved in carbohydrate metabolic process. Located in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

797 residues, UniProt reviewed canonical sequence.

>Q96PB1|CASD1
     1  MAALAYNLGK REINHYFSVR SAKVLALVAV LLLAACHLAS RRYRGNDSCE YLLSSGRFLG
    61  EKVWQPHSCM MHKYKISEAK NCLVDKHIAF IGDSRIRQLF YSFVKIINPQ FKEEGNKHEN
   121  IPFEDKTASV KVDFLWHPEV NGSMKQCIKV WTEDSIAKPH VIVAGAATWS IKIHNGSSEA
   181  LSQYKMNITS IAPLLEKLAK TSDVYWVLQD PVYEDLLSEN RKMITNEKID AYNEAAVSIL
   241  NSSTRNSKSN VKMFSVSKLI AQETIMESLD GLHLPESSRE TTAMILMNVY CNKILKPVDG
   301  SCCQPRPPVT LIQKLAACFF TLSIIGYLIF YIIHRNAHRK NKPCTDLESG EEKKNIINTP
   361  VSSLEILLQS FCKLGLIMAY FYMCDRANLF MKENKFYTHS SFFIPIIYIL VLGVFYNENT
   421  KETKVLNREQ TDEWKGWMQL VILIYHISGA STFLPVYMHI RVLVAAYLFQ TGYGHFSYFW
   481  IKGDFGIYRV CQVLFRLNFL VVVLCIVMDR PYQFYYFVPL VTVWFMVIYV TLALWPQIIQ
   541  KKANGNCFWH FGLLLKLGFL LLFICFLAYS QGAFEKIFSL WPLSKCFELK GNVYEWWFRW
   601  RLDRYVVFHG MLFAFIYLAL QKRQILSEGK GEPLFSNKIS NFLLFISVVS FLTYSIWASS
   661  CKNKAECNEL HPSVSVVQIL AFILIRNIPG YARSVYSSFF AWFGKISLEL FICQYHIWLA
   721  ADTRGILVLI PGNPMLNIIV STFIFVCVAH EISQITNDLA QIIIPKDNSS LLKRLACIAA
   781  FFCGLLILSS IQDKSKH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CASD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 15
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

adrenal gland: 24 nTPM
cerebral cortex: 22 nTPM
retina: 20 nTPM
salivary gland: 19 nTPM
tongue: 18 nTPM
rectum: 18 nTPM

Single-cell type

corticotrophs: 252 nCPM
gonadotrophs: 215 nCPM
thyrotrophs: 201 nCPM
lactotrophs: 200 nCPM
adrenal cortex cells: 183 nCPM
sertoli cells: 175 nCPM

Immune cell

MAIT T-cell: 1.6 nTPM
memory CD4 T-cell: 0.9 nTPM
naive CD4 T-cell: 0.9 nTPM
memory CD8 T-cell: 0.8 nTPM
naive CD8 T-cell: 0.7 nTPM
gdT-cell: 0.6 nTPM

Brain region

hypothalamus: 48 nTPM
hippocampal formation: 43 nTPM
basal ganglia: 40 nTPM
white matter: 40 nTPM
pons: 39 nTPM
cerebral cortex: 38 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.44
gnomAD pLI: 0.04
gnomAD missense Z: 1.96
DepMap mean gene effect: 0.13
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

carbohydrate metabolic process

Molecular functions

N-acetylneuraminate 9-O-acetyltransferase activity

Cellular components

Golgi membrane

Protein domainsUniProt · Pfam · InterPro

Cyclin-like superfamily
NXPE, C-terminal
NXPE family member 4-like, C-terminal domain
Cas1p, 10 TM acyl transferase domain
10 TM Acyl Transferase domain found in Cas1p

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CASD1 as an antibody target. Whether an autoantibody or antibody against CASD1 could matter depends on whether native CASD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CASD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CASD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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