Seroatlas · Human Serome Atlas

AMDHD1

Probable imidazolonepropionase

Also known as: HUTI_HUMAN, MGC35366

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

Protein identityUniProt · HPA

UniProt accession: Q96NU7
Gene: AMDHD1
Ensembl: ENSG00000139344
Chromosome: 12
Canonical length: 426 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

Predicted to enable imidazolonepropionase activity. Predicted to be involved in L-histidine catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

426 residues, UniProt reviewed canonical sequence.

>Q96NU7|AMDHD1
     1  MASGHSLLLE NAQQVVLVCA RGERFLARDA LRSLAVLEGA SLVVGKDGFI KAIGPADVIQ
    61  RQFSGETFEE IIDCSGKCIL PGLVDAHTHP VWAGERVHEF AMKLAGATYM EIHQAGGGIH
   121  FTVERTRQAT EEELFRSLQQ RLQCMMRAGT TLVECKSGYG LDLETELKML RVIERARREL
   181  DIGISATYCG AHSVPKGKTA TEAADDIINN HLPKLKELGR NGEIHVDNID VFCEKGVFDL
   241  DSTRRILQRG KDIGLQINFH GDELHPMKAA ELGAELGAQA ISHLEEVSDE GIVAMATARC
   301  SAILLPTTAY MLRLKQPRAR KMLDEGVIVA LGSDFNPNAY CFSMPMVMHL ACVNMRMSMP
   361  EALAAATINA AYALGKSHTH GSLEVGKQGD LIIINSSRWE HLIYQFGGHH ELIEYVIAKG
   421  KLIYKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMDHD1 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): 0.2
Highest tissue expression: 58 nTPM

Expression across tissuesHPA

Tissue

liver: 58 nTPM
skeletal muscle: 25 nTPM
testis: 12 nTPM
adrenal gland: 11 nTPM
appendix: 6 nTPM
skin: 5.5 nTPM

Single-cell type

hepatocytes: 186 nCPM
adrenal cortex cells: 85 nCPM
proximal tubule cells: 10 nCPM
mast cells: 8.2 nCPM
gonadotrophs: 8.1 nCPM
somatotrophs: 8.1 nCPM

Immune cell

NK-cell: 2.3 nTPM
non-classical monocyte: 1.8 nTPM
eosinophil: 1.7 nTPM
classical monocyte: 0.6 nTPM
intermediate monocyte: 0.6 nTPM
memory B-cell: 0.6 nTPM

Brain region

medulla oblongata: 57 nTPM
white matter: 55 nTPM
cerebral cortex: 52 nTPM
basal ganglia: 48 nTPM
pons: 46 nTPM
midbrain: 44 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): 1.17
gnomAD pLI: 0
gnomAD missense Z: -0.3
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides
metal ion binding
imidazolonepropionase activity

Cellular components

cytosol

Protein domainsUniProt · Pfam · InterPro

Amidohydrolase-related
Metal-dependent hydrolase, composite domain superfamily
Metal-dependent hydrolase
Amidohydrolase family
Imidazolonepropionase

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AMDHD1 as an antibody target. Whether an autoantibody or antibody against AMDHD1 could matter depends on whether native AMDHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AMDHD1 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 AMDHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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