Seroatlas · Human Serome Atlas

ASPHD1

Aspartate beta-hydroxylase domain-containing protein 1

Also known as: ASPH1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q5U4P2
Gene: ASPHD1
Ensembl: ENSG00000174939
Chromosome: 16
Canonical length: 390 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

Predicted to enable dioxygenase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

390 residues, UniProt reviewed canonical sequence.

>Q5U4P2|ASPHD1
     1  MKEGRGSFSV ERGPRKERET AQSGMWKGNS PAGSQGAAME GTGGELGGQG NWGPEDAPGL
    61  LARASLIMLP WPLPLASSAL TLLFGALTSL FLWYCYRLGS QDMQALGAGS RAGGVRGGPV
   121  GCSEAGGPSP GGPGDPGEGP RTEGLVSRRL RAYARRYSWA GMGRVRRAAQ GGPGPGRGPG
   181  VLGIQRPGLL FLPDLPSAPF VPRDAQRHDV ELLESSFPAI LRDFGAVSWD FSGTTPPPRG
   241  WSPPLAPGCY QLLLYQAGRC QPSNCRRCPG AYRALRGLRS FMSANTFGNA GFSVLLPGAR
   301  LEGRCGPTNA RVRCHLGLKI PPGCELVVGG EPQCWAEGHC LLVDDSFLHT VAHNGSPEDG
   361  PRVVFIVDLW HPNVAGAERQ ALDFVFAPDP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASPHD1 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: Unknown
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 189 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 189 nTPM
hippocampal formation: 170 nTPM
amygdala: 163 nTPM
midbrain: 145 nTPM
cerebral cortex: 133 nTPM
spinal cord: 129 nTPM

Single-cell type

epicardial cells: 114 nCPM
pancreatic islet cells: 87 nCPM
mesothelial cells: 65 nCPM
brain excitatory neurons: 58 nCPM
neuroendocrine cells: 53 nCPM
oligodendrocytes: 44 nCPM

Immune cell

NK-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

basal ganglia: 88 nTPM
white matter: 83 nTPM
cerebral cortex: 79 nTPM
midbrain: 76 nTPM
amygdala: 76 nTPM
medulla oblongata: 76 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
gnomAD pLI: 0
gnomAD missense Z: 1.29
DepMap mean gene effect: -0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

dioxygenase activity

Cellular components

membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASPHD1 as an antibody target. Whether an autoantibody or antibody against ASPHD1 could matter depends on whether native ASPHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASPHD1 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 ASPHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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