Seroatlas · Human Serome Atlas

DTHD1

Death domain-containing protein 1

Also known as: DTHD1_HUMAN, FLJ16686

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

Protein identityUniProt · HPA

UniProt accession: Q6ZMT9
Gene: DTHD1
Ensembl: ENSG00000197057
Chromosome: 4
Canonical length: 781 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

Canonical amino-acid sequenceUniProt

781 residues, UniProt reviewed canonical sequence.

>Q6ZMT9|DTHD1
     1  MHDECTPQQT MSSIQDTKAA DIAARGELNV IETATVSPTN GEESHYTNQV QLEKNKTHMS
    61  SALVEKENNT SLNGRVLGQE ESQNKMFPDN AENEDDKQIE HMTVENINGN REETHGIIQT
   121  TETEIQETSE SPREEMTTSS IICDISKKYI NSTLPNDSEN IKHKNNIMEK EYLDVLSDVT
   181  GPQVSCYITA PSYVLQQLEC RIINHMSSLI VGDNEELVSN VITIECSDKE KRVPFPIGIA
   241  IPFTARYRGN YRDIMVKVCD INLQSSYLNP NSLEGMKGGY KGTCASVKVY KLGIFSVVSC
   301  LKKESFTVTK KGLALKSSMD SRISLNYPPG VFTSPVLVQL KIQPVDPALV AHLKAQQDTF
   361  YSVQSTSPLI HIQHPSTYPF QKPVTLFLPC SPYLDKNNLG SEIDHKRRAS ATINRITPSY
   421  FNRTKIASIR KPRKNASECL KLLGFRSQDS GWCGLDDVVK TIQSGLVSVE LYEHLERFIV
   481  LHLSSTMDNS HLVTFVKSLE EAMLSTTACI VLSHQKDNPH RIAVLVVPSK DLSQVLKDLH
   541  LEGFGGPPEP SRHFQVREGE QLLLRFTGNI FASSNGKDYG KDYTLIFHLQ RKPRLELQIK
   601  EVDEFGNYSC PHYKGTIVVY KVPKGKIVPN LNQSLVINEN HSQLPICKLP LKLPKHKKLI
   661  NRPQSTKRVS KDPVEALWDN LLHWLAEELS EENAESLSST LPLRRSTIQL IKLKNPDDLT
   721  EQIHEFLCFW KKSLPTFTDK LRLLARHLRK IGRSDLAEEL KFKWENKVFT EPQQCFDVAP
   781  E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DTHD1 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: 0
Mean surface accessibility (rSASA): 0.41
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 13 nTPM
lymph node: 3.7 nTPM
lung: 3.3 nTPM
spleen: 2.1 nTPM
basal ganglia: 1.8 nTPM
hippocampal formation: 1.6 nTPM

Single-cell type

ependymal cells: 1,132 nCPM
respiratory ciliated cells: 979 nCPM
endometrial ciliated cells: 561 nCPM
fallopian tube ciliated cells: 464 nCPM
epididymal efferent duct ciliated cells: 280 nCPM
nk-cells: 206 nCPM

Immune cell

gdT-cell: 3.4 nTPM
naive CD8 T-cell: 1.2 nTPM
memory CD8 T-cell: 1 nTPM
MAIT T-cell: 0.6 nTPM
NK-cell: 0.6 nTPM
total PBMC: 0.4 nTPM

Brain region

medulla oblongata: 25 nTPM
midbrain: 23 nTPM
spinal cord: 23 nTPM
white matter: 10 nTPM
pons: 8.8 nTPM
hypothalamus: 5.5 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): 0.83
gnomAD pLI: 0
gnomAD missense Z: 0.99
DepMap mean gene effect: -0.02
DepMap dependency class: none

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

signal transduction

Protein domainsUniProt · Pfam · InterPro

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DTHD1 as an antibody target. Whether an autoantibody or antibody against DTHD1 could matter depends on whether native DTHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DTHD1 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 DTHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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