Seroatlas · Human Serome Atlas

DPH7

Diphthine methyltransferase

Also known as: C9orf112, DPH7_HUMAN, FLJ90634, RRT2, WDR85

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

Protein identityUniProt · HPA

UniProt accession: Q9BTV6
Gene: DPH7
Ensembl: ENSG00000148399
Chromosome: 9
Canonical length: 452 aa
Protein class: Enzymes, Predicted intracellular proteins
Subcellular location: Nuclear bodies

OverviewNCBI Gene

Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]

Canonical amino-acid sequenceUniProt

452 residues, UniProt reviewed canonical sequence.

>Q9BTV6|DPH7
     1  MMGCFALQTV DTELTADSVE WCPLQGCRHL LACGTYQLRR PEDRPAGPQN KGGMEVKEPQ
    61  VRLGRLFLYS FNDNNSIHPL VEVQRKDTSA ILDMKWCHIP VAGHALLGLA DASGSIQLLR
   121  LVESEKSHVL EPLSSLALEE QCLALSLDWS TGKTGRAGDQ PLKIISSDST GQLHLLMVNE
   181  TRPRLQKVAS WQAHQFEAWI AAFNYWHPEI VYSGGDDGLL RGWDTRVPGK FLFTSKRHTM
   241  GVCSIQSSPH REHILATGSY DEHILLWDTR NMKQPLADTP VQGGVWRIKW HPFHHHLLLA
   301  ACMHSGFKIL NCQKAMEERQ EATVLTSHTL PDSLVYGADW SWLLFRSLQR APSWSFPSNL
   361  GTKTADLKGA SELPTPCHEC REDNDGEGHA RPQSGMKPLT EGMRKNGTWL QATAATTRDC
   421  GVNPEEADSA FSLLATCSFY DHALHLWEWE GN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DPH7 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): 0.31
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

pancreas: 13 nTPM
epididymis: 6.6 nTPM
stomach: 6.6 nTPM
fallopian tube: 6.5 nTPM
cervix: 6.4 nTPM
adrenal gland: 6.2 nTPM

Single-cell type

early primary spermatocytes: 289 nCPM
rod photoreceptor cells: 61 nCPM
sertoli cells: 36 nCPM
cone photoreceptor cells: 35 nCPM
adrenal cortex cells: 34 nCPM
breast myoepithelial cells: 32 nCPM

Immune cell

basophil: 9.5 nTPM
plasmacytoid DC: 8 nTPM
memory CD4 T-cell: 7.2 nTPM
MAIT T-cell: 6.4 nTPM
memory CD8 T-cell: 6.4 nTPM
eosinophil: 6.2 nTPM

Brain region

white matter: 13 nTPM
cerebellum: 11 nTPM
cerebral cortex: 10 nTPM
pons: 9.6 nTPM
choroid plexus: 9.4 nTPM
thalamus: 9.3 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): 1.22
gnomAD pLI: 0
gnomAD missense Z: 0
DepMap mean gene effect: -0.04
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

protein histidyl modification to diphthamide

Molecular functions

diphthine methylesterase activity

Cellular components

cytoplasm

Protein domainsUniProt · Pfam · InterPro

WD40 repeat
WD40/YVTN repeat-like-containing domain superfamily
WD40 repeat, conserved site
WD40-repeat-containing domain superfamily
WD domain, G-beta repeat
Diphthine methyltransferase

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DPH7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

INCA1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DPH7 as an antibody target. Whether an autoantibody or antibody against DPH7 could matter depends on whether native DPH7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DPH7 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 DPH7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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