Seroatlas · Human Serome Atlas

TRPS1

Zinc finger transcription factor Trps1

Also known as: GC79, LGCR, TRPS1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9UHF7
Gene: TRPS1
Ensembl: ENSG00000104447
Chromosome: 8
Canonical length: 1281 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1281 residues, UniProt reviewed canonical sequence.

>Q9UHF7|TRPS1
     1  MVRKKNPPLR NVASEGEGQI LEPIGTESKV SGKNKEFSAD QMSENTDQSD AAELNHKEEH
    61  SLHVQDPSSS SKKDLKSAVL SEKAGFNYES PSKGGNFPSF PHDEVTDRNM LAFSSPAAGG
   121  VCEPLKSPQR AEADDPQDMA CTPSGDSLET KEDQKMSPKA TEETGQAQSG QANCQGLSPV
   181  SVASKNPQVP SDGGVRLNKS KTDLLVNDNP DPAPLSPELQ DFKCNICGYG YYGNDPTDLI
   241  KHFRKYHLGL HNRTRQDAEL DSKILALHNM VQFSHSKDFQ KVNRSVFSGV LQDINSSRPV
   301  LLNGTYDVQV TSGGTFIGIG RKTPDCQGNT KYFRCKFCNF TYMGNSSTEL EQHFLQTHPN
   361  KIKASLPSSE VAKPSEKNSN KSIPALQSSD SGDLGKWQDK ITVKAGDDTP VGYSVPIKPL
   421  DSSRQNGTEA TSYYWCKFCS FSCESSSSLK LLEHYGKQHG AVQSGGLNPE LNDKLSRGSV
   481  INQNDLAKSS EGETMTKTDK SSSGAKKKDF SSKGAEDNMV TSYNCQFCDF RYSKSHGPDV
   541  IVVGPLLRHY QQLHNIHKCT IKHCPFCPRG LCSPEKHLGE ITYPFACRKS NCSHCALLLL
   601  HLSPGAAGSS RVKHQCHQCS FTTPDVDVLL FHYESVHESQ ASDVKQEANH LQGSDGQQSV
   661  KESKEHSCTK CDFITQVEEE ISRHYRRAHS CYKCRQCSFT AADTQSLLEH FNTVHCQEQD
   721  ITTANGEEDG HAISTIKEEP KIDFRVYNLL TPDSKMGEPV SESVVKREKL EEKDGLKEKV
   781  WTESSSDDLR NVTWRGADIL RGSPSYTQAS LGLLTPVSGT QEQTKTLRDS PNVEAAHLAR
   841  PIYGLAVETK GFLQGAPAGG EKSGALPQQY PASGENKSKD ESQSLLRRRR GSGVFCANCL
   901  TTKTSLWRKN ANGGYVCNAC GLYQKLHSTP RPLNIIKQNN GEQIIRRRTR KRLNPEALQA
   961  EQLNKQQRGS NEEQVNGSPL ERRSEDHLTE SHQREIPLPS LSKYEAQGSL TKSHSAQQPV
  1021  LVSQTLDIHK RMQPLHIQIK SPQESTGDPG NSSSVSEGKG SSERGSPIEK YMRPAKHPNY
  1081  SPPGSPIEKY QYPLFGLPFV HNDFQSEADW LRFWSKYKLS VPGNPHYLSH VPGLPNPCQN
  1141  YVPYPTFNLP PHFSAVGSDN DIPLDLAIKH SRPGPTANGA SKEKTKAPPN VKNEGPLNVV
  1201  KTEKVDRSTQ DELSTKCVHC GIVFLDEVMY ALHMSCHGDS GPFQCSICQH LCTDKYDFTT
  1261  HIQRGLHRNN AQVEKNGKPK E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRPS1 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): 0.59
Highest tissue expression: 57 nTPM

Expression across tissuesHPA

Tissue

breast: 57 nTPM
esophagus: 13 nTPM
vagina: 13 nTPM
cervix: 12 nTPM
testis: 12 nTPM
salivary gland: 11 nTPM

Single-cell type

breast hormone-responsive cells: 1,683 nCPM
bergmann glia: 1,534 nCPM
astrocytes: 1,205 nCPM
ependymal cells: 1,107 nCPM
breast secretory cells: 1,052 nCPM
adipocytes: 952 nCPM

Immune cell

classical monocyte: 4.5 nTPM
intermediate monocyte: 1.9 nTPM
myeloid DC: 1.7 nTPM
non-classical monocyte: 1.4 nTPM
MAIT T-cell: 1 nTPM
memory CD4 T-cell: 1 nTPM

Brain region

medulla oblongata: 152 nTPM
midbrain: 152 nTPM
thalamus: 141 nTPM
spinal cord: 124 nTPM
cerebral cortex: 124 nTPM
hippocampal formation: 118 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRPS1.

Disease | AllUniProt

Conditions TRPS1 is implicated in, by any mechanism.

Tricho-rhino-phalangeal syndrome 1 (TRPS1) MIM:190350
Tricho-rhino-phalangeal syndrome 2 (TRPS2) MIM:150230
Tricho-rhino-phalangeal syndrome 3 (TRPS3) MIM:190351

Disease | GeneticClinVar

180 pathogenic / likely-pathogenic of 846 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases
TRPS1-related disorder
Langer-Giedion syndrome

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): 0.11
gnomAD pLI: 1
gnomAD missense Z: 1.54
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TRPS1 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 TRPS1 as an antibody target. Whether an autoantibody or antibody against TRPS1 could matter depends on whether native TRPS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TRPS1 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 TRPS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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