Seroatlas · Human Serome Atlas

AAMDC

Mth938 domain-containing protein

Also known as: AAMDC_HUMAN, C11orf67, CK067, FLJ21035, PTD015

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

Protein identityUniProt · HPA

UniProt accession: Q9H7C9
Gene: AAMDC
Ensembl: ENSG00000087884
Chromosome: 11
Canonical length: 122 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

Predicted to be involved in positive regulation of fat cell differentiation. Predicted to act upstream of or within negative regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

122 residues, UniProt reviewed canonical sequence.

>Q9H7C9|AAMDC
     1  MTSPEIASLS WGQMKVKGSN TTYKDCKVWP GGSRTWDWRE TGTEHSPGVQ PADVKEVVEK
    61  GVQTLVIGRG MSEALKVPSS TVEYLKKHGI DVRVLQTEQA VKEYNALVAQ GVRVGGVFHS
   121  TC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AAMDC 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 622 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 622 nTPM
adrenal gland: 179 nTPM
heart muscle: 174 nTPM
tongue: 164 nTPM
blood vessel: 78 nTPM
adipose tissue: 74 nTPM

Single-cell type

myonuclei: 396 nCPM
early primary spermatocytes: 258 nCPM
adrenal cortex cells: 248 nCPM
parietal cells: 244 nCPM
enterocytes: 183 nCPM
adipocytes: 167 nCPM

Immune cell

basophil: 145 nTPM
T-reg: 48 nTPM
NK-cell: 36 nTPM
plasmacytoid DC: 34 nTPM
eosinophil: 34 nTPM
myeloid DC: 33 nTPM

Brain region

white matter: 50 nTPM
medulla oblongata: 43 nTPM
basal ganglia: 39 nTPM
pons: 38 nTPM
midbrain: 37 nTPM
thalamus: 36 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): 1.84
gnomAD pLI: 0
gnomAD missense Z: -0.13
DepMap mean gene effect: -0.03
DepMap dependency class: selective

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

Cellular components

cytoplasm

Protein domainsUniProt · Pfam · InterPro

NDUFAF3/Mth938 domain-containing protein
MTH938-like superfamily
Protein of unknown function (DUF498/DUF598)
Mth938 domain-containing protein

KeywordsUniProt

Cytoplasm

Antibody and autoantibody relevanceSeroatlas analysis

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

AAMDC 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 AAMDC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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