Seroatlas · Human Serome Atlas

PTCD1

Pentatricopeptide repeat-containing protein 1, mitochondrial

Also known as: KIAA0632, PTCD1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O75127
Gene: PTCD1
Ensembl: ENSG00000106246
Chromosome: 7
Canonical length: 700 aa
Protein class: Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

700 residues, UniProt reviewed canonical sequence.

>O75127|PTCD1
     1  MDFVRLARLF ARARPMGLFI LQHLDPCRAR WAGGREGLMR PMWAPFSSSS SQLPLGQERQ
    61  ENTGSLGSDP SHSNSTATQE EDEEEEESFG TLSDKYSSRR LFRKSAAQFH NLRFGERRDE
   121  QMEPEPKLWR GRRNTPYWYF LQCKHLIKEG KLVEALDLFE RQMLKEERLQ PMESNYTVLI
   181  GGCGRVGYLK KAFNLYNQMK KRDLEPSDAT YTALFNVCAE SPWKDSALQS ALKLRQQLQA
   241  KNFELNLKTY HALLKMAAKC ADLRMCLDVF KEIIHKGHVV TEETFSFLLM GCIQDKKTGF
   301  RYALQVWRLM LSLGLQPSRD SYNLLLVAAR DCGLGDPQVA SELLLKPREE ATVLQPPVSR
   361  QRPRRTAQAK AGNLMSAMLH VEALERQLFL EPSQALGPPE PPEARVPGKA QPEVDTKAEP
   421  SHTAALTAVA LKPPPVELEV NLLTPGAVPP TVVSFGTVTT PADRLALIGG LEGFLSKMAE
   481  HRQQPDIRTL TLLAEVVESG SPAESLLLAL LDEHQVEADL TFFNTLVRKK SKLGDLEGAK
   541  ALLPVLAKRG LVPNLQTFCN LAIGCHRPKD GLQLLTDMKK SQVTPNTHIY SALINAAIRK
   601  LNYTYLISIL KDMKQNRVPV NEVVIRQLEF AAQYPPTFDR YQGKNTYLEK IDGFRAYYKQ
   661  WLTVMPAEET PHPWQKFRTK PQGDQDTGKE ADDGCALGGR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTCD1 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): 0.41
Highest tissue expression: 6.6 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 6.6 nTPM
bone marrow: 5.2 nTPM
liver: 4.8 nTPM
spleen: 4.8 nTPM
testis: 4.4 nTPM
esophagus: 4.3 nTPM

Single-cell type

epicardial cells: 25 nCPM
microglia: 17 nCPM
medullary thymic epithelial cells: 14 nCPM
astrocytes: 14 nCPM
oocytes: 14 nCPM
bergmann glia: 13 nCPM

Immune cell

gdT-cell: 3.3 nTPM
naive CD8 T-cell: 3 nTPM
naive B-cell: 2.4 nTPM
naive CD4 T-cell: 2.4 nTPM
intermediate monocyte: 2.3 nTPM
MAIT T-cell: 2.2 nTPM

Brain region

cerebellum: 10 nTPM
medulla oblongata: 10 nTPM
white matter: 9.9 nTPM
cerebral cortex: 9.7 nTPM
midbrain: 9.3 nTPM
thalamus: 9.2 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): 1.15
gnomAD pLI: 0
gnomAD missense Z: -0.56
DepMap mean gene effect: -0.29
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PTCD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PTCD1 as an antibody target. Whether an autoantibody or antibody against PTCD1 could matter depends on whether native PTCD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PTCD1 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 PTCD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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