Seroatlas · Human Serome Atlas

PITHD1

PITH domain-containing protein 1

Also known as: C1orf128, HT014, PITH1_HUMAN, TXNL1CL

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

Protein identityUniProt · HPA

UniProt accession: Q9GZP4
Gene: PITHD1
Ensembl: ENSG00000057757
Chromosome: 1
Canonical length: 211 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

Involved in positive regulation of DNA-templated transcription and positive regulation of megakaryocyte differentiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

211 residues, UniProt reviewed canonical sequence.

>Q9GZP4|PITHD1
     1  MSHGHSHGGG GCRCAAEREE PPEQRGLAYG LYLRIDLERL QCLNESREGS GRGVFKPWEE
    61  RTDRSKFVES DADEELLFNI PFTGNVKLKG IIIMGEDDDS HPSEMRLYKN IPQMSFDDTE
   121  REPDQTFSLN RDLTGELEYA TKISRFSNVY HLSIHISKNF GADTTKVFYI GLRGEWTELR
   181  RHEVTICNYE ASANPADHRV HQVTPQTHFI S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PITHD1 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): 0.36
Highest tissue expression: 141 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 141 nTPM
hypothalamus: 140 nTPM
thymus: 133 nTPM
cerebellum: 128 nTPM
parathyroid gland: 117 nTPM
midbrain: 115 nTPM

Single-cell type

oocytes: 336 nCPM
esophageal apical cells: 291 nCPM
esophageal suprabasal cells: 231 nCPM
early primary spermatocytes: 159 nCPM
syncytiotrophoblasts: 148 nCPM
suprabasal keratinocytes: 147 nCPM

Immune cell

memory B-cell: 54 nTPM
naive CD4 T-cell: 51 nTPM
eosinophil: 50 nTPM
naive CD8 T-cell: 49 nTPM
naive B-cell: 48 nTPM
NK-cell: 43 nTPM

Brain region

pons: 170 nTPM
hypothalamus: 155 nTPM
white matter: 124 nTPM
midbrain: 123 nTPM
cerebral cortex: 116 nTPM
medulla oblongata: 113 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): 0.97
gnomAD pLI: 0.01
gnomAD missense Z: 1.23
DepMap mean gene effect: -0.01
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

Biological processes

penetration of zona pellucida
positive regulation of DNA-templated transcription
positive regulation of megakaryocyte differentiation
regulation of proteasomal protein catabolic process
spermatid development
penetration of cumulus oophorus

Cellular components

Protein domainsUniProt · Pfam · InterPro

Galactose-binding-like domain superfamily
PITH domain
PITH domain superfamily
PITH domain
PITH domain-containing protein 1-like

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PITHD1 as an antibody target. Whether an autoantibody or antibody against PITHD1 could matter depends on whether native PITHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PITHD1 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 PITHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...