Seroatlas · Human Serome Atlas

PAXBP1

PAX3- and PAX7-binding protein 1

Also known as: C21orf66, fSAP105, GCFC, GCFC1, PAXB1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9Y5B6
Gene
PAXBP1
Ensembl
ENSG00000159086
Chromosome
21
Canonical length
917 aa
Protein class
Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

Predicted to enable DNA binding activity and histone methyltransferase binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myoblast proliferation and regulation of skeletal muscle satellite cell proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

917 residues, UniProt reviewed canonical sequence.

>Q9Y5B6|PAXBP1
     1  MFRKARRVNV RKRNDSEEEE RERDEEQEPP PLLPPPGTGE EAGPGGGDRA PGGESLLGPG
    61  PSPPSALTPG LGAEAGGGFP GGAEPGNGLK PRKRPRENKE VPRASLLSFQ DEEEENEEVF
   121  KVKKSSYSKK IVKLLKKEYK EDLEKSKIKT ELNSSAESEQ PLDKTGHVKD TNQEDGVIIS
   181  EHGEDEMDME SEKEEEKPKT GGAFSNALSS LNVLRPGEIP DAAFIHAARK KRQMARELGD
   241  FTPHDNEPGK GRLVREDEND ASDDEDDDEK RRIVFSVKEK SQRQKIAEEI GIEGSDDDAL
   301  VTGEQDEELS RWEQEQIRKG INIPQVQASQ PAEVNMYYQN TYQTMPYGSS YGIPYSYTAY
   361  GSSDAKSQKT DNTVPFKTPS NEMTPVTIDL VKKQLKDRLD SMKELHKTNR QQHEKHLQSR
   421  VDSTRAIERL EGSSGGIGER YKFLQEMRGY VQDLLECFSE KVPLINELES AIHQLYKQRA
   481  SRLVQRRQDD IKDESSEFSS HSNKALMAPN LDSFGRDRAL YQEHAKRRIA EREARRTRRR
   541  QAREQTGKMA DHLEGLSSDD EETSTDITNF NLEKDRISKE SGKVFEDVLE SFYSIDCIKS
   601  QFEAWRSKYY TSYKDAYIGL CLPKLFNPLI RLQLLTWTPL EAKCRDFENM LWFESLLFYG
   661  CEEREQEKDD VDVALLPTIV EKVILPKLTV IAENMWDPFS TTQTSRMVGI TLKLINGYPS
   721  VVNAENKNTQ VYLKALLLRM RRTLDDDVFM PLYPKNVLEN KNSGPYLFFQ RQFWSSVKLL
   781  GNFLQWYGIF SNKTLQELSI DGLLNRYILM AFQNSEYGDD SIKKAQNVIN CFPKQWFMNL
   841  KGERTISQLE NFCRYLVHLA DTIYRNSIGC SDVEKRNARE NIKQIVKLLA SVRALDHAMS
   901  VASDHNVKEF KSLIEGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAXBP1 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)
0.46
Highest tissue expression
27 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 27 nTPM
  • cerebellum: 13 nTPM
  • retina: 12 nTPM
  • ovary: 12 nTPM
  • duodenum: 9.6 nTPM
  • thymus: 9.4 nTPM

Single-cell type

  • neutrophil progenitors: 255 nCPM
  • oligodendrocytes: 196 nCPM
  • choroid plexus epithelial cells: 194 nCPM
  • ependymal cells: 183 nCPM
  • lactotrophs: 154 nCPM
  • oligodendrocyte progenitor cells: 150 nCPM

Immune cell

  • MAIT T-cell: 0.8 nTPM
  • memory CD4 T-cell: 0.7 nTPM
  • naive CD4 T-cell: 0.7 nTPM
  • naive CD8 T-cell: 0.7 nTPM
  • gdT-cell: 0.6 nTPM
  • naive B-cell: 0.6 nTPM

Brain region

  • white matter: 15 nTPM
  • cerebellum: 14 nTPM
  • hypothalamus: 12 nTPM
  • choroid plexus: 11 nTPM
  • medulla oblongata: 11 nTPM
  • basal ganglia: 10 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)
0.19
gnomAD pLI
1
gnomAD missense Z
2.66
DepMap mean gene effect
-0.94
DepMap dependency class
common

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PAXBP1 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 PAXBP1 as an antibody target. Whether an autoantibody or antibody against PAXBP1 could matter depends on whether native PAXBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PAXBP1 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 PAXBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PAXBP1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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