Seroatlas · Human Serome Atlas

PHLDB1

Pleckstrin homology-like domain family B member 1

Also known as: FLJ00141, KIAA0638, LL5a, PHLB1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q86UU1
Gene: PHLDB1
Ensembl: ENSG00000019144
Chromosome: 11
Canonical length: 1377 aa
Protein class: Predicted intracellular proteins
Subcellular location: Vesicles,Plasma membrane,Cytokinetic bridge,Cytosol

OverviewNCBI Gene

Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in basal cortex. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

1377 residues, UniProt reviewed canonical sequence.

>Q86UU1|PHLDB1
     1  MDALNRNQIG PGCQTQTMVQ KGPLDLIETG KGLKVQTDKP HLVSLGSGRL STAITLLPLE
    61  EGRTVIGSAA RDISLQGPGL APEHCYIENL RGTLTLYPCG NACTIDGLPV RQPTRLTQGC
   121  MLCLGQSTFL RFNHPAEAKW MKSMIPAGGR APGPPYSPVP AESESLVNGN HTPQTATRGP
   181  SACASHSSLV SSIEKDLQEI MDSLVLEEPG AAGKKPAATS PLSPMANGGR YLLSPPTSPG
   241  AMSVGSSYEN TSPAFSPLSS PASSGSCASH SPSGQEPGPS VPPLVPARSS SYHLALQPPQ
   301  SRPSGARSES PRLSRKGGHE RPPSPGLRGL LTDSPAATVL AEARRATESP RLGGQLPVVA
   361  ISLSEYPASG ALSQPTSIPG SPKFQPPVPA PRNKIGTLQD RPPSPFREPP GSERVLTTSP
   421  SRQLVGRTFS DGLATRTLQP PESPRLGRRG LDSMRELPPL SPSLSRRALS PLPTRTTPDP
   481  KLNREVAESP RPRRWAAHGA SPEDFSLTLG ARGRRTRSPS PTLGESLAPH KGSFSGRLSP
   541  AYSLGSLTGA SPCQSPCVQR KLSSGDLRVP VTRERKNSIT EISDNEDDLL EYHRRQRQER
   601  LREQEMERLE RQRLETILNL CAEYSRADGG PEAGELPSIG EATAALALAG RRPSRGLAGA
   661  SGRSSEEPGV ATQRLWESME RSDEENLKEE CSSTESTQQE HEDAPSTKLQ GEVLALEEER
   721  AQVLGHVEQL KVRVKELEQQ LQESAREAEM ERALLQGERE AERALLQKEQ KAVDQLQEKL
   781  VALETGIQKE RDKEAEALET ETKLFEDLEF QQLERESRVE EERELAGQGL LRSKAELLRS
   841  IAKRKERLAI LDSQAGQIRA QAVQESERLA RDKNASLQLL QKEKEKLTVL ERRYHSLTGG
   901  RPFPKTTSTL KEMEKLLLPA VDLEQWYQEL MAGLGTGPAA ASPHSSPPPL PAKASRQLQV
   961  YRSKMDGEAT SPLPRTRSGP LPSSSGSSSS SSQLSVATLG RSPSPKSALL TQNGTGSLPR
  1021  NLAATLQDIE TKRQLALQQK GQQVIEEQRR RLAELKQKAA AEAQCQWDAL HGAAPFPAGP
  1081  SGFPPLMHHS ILHHLPAGRE RGEEGEHAYD TLSLESSDSM ETSISTGGNS ACSPDNMSSA
  1141  SGLDMGKIEE MEKMLKEAHA EKNRLMESRE REMELRRQAL EEERRRREQV ERRLQSESAR
  1201  RQQLVEKEVK MREKQFSQAR PLTRYLPIRK EDFDLKTHIE SSGHGVDTCL HVVLSSKVCR
  1261  GYLVKMGGKI KSWKKRWFVF DRLKRTLSYY VDKHETKLKG VIYFQAIEEV YYDHLRSAAK
  1321  KRFFRFTMVT ESPNPALTFC VKTHDRLYYM VAPSAEAMRI WMDVIVTGAE GYTQFMN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHLDB1 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): 0.57
Highest tissue expression: 46 nTPM

Expression across tissuesHPA

Tissue

adipose tissue: 46 nTPM
spinal cord: 46 nTPM
breast: 35 nTPM
hippocampal formation: 35 nTPM
endometrium: 34 nTPM
cervix: 33 nTPM

Single-cell type

adipocytes: 414 nCPM
oligodendrocytes: 373 nCPM
fibro-adipogenic progenitors: 211 nCPM
decidual stromal cells: 175 nCPM
leydig cells: 144 nCPM
pericytes: 140 nCPM

Immune cell

neutrophil: 0.3 nTPM
NK-cell: 0.3 nTPM
basophil: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

white matter: 294 nTPM
cerebral cortex: 189 nTPM
basal ganglia: 186 nTPM
thalamus: 179 nTPM
midbrain: 160 nTPM
medulla oblongata: 159 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHLDB1.

Disease | AllUniProt

Conditions PHLDB1 is implicated in, by any mechanism.

Osteogenesis imperfecta 23 (OI23) MIM:620639

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 240 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Osteogenesis imperfecta, type 23

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): 0.37
gnomAD pLI: 0.11
gnomAD missense Z: 1.47
DepMap mean gene effect: 0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

basement membrane organization

Cellular components

basal cortex

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PHLDB1 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 PHLDB1 as an antibody target. Whether an autoantibody or antibody against PHLDB1 could matter depends on whether native PHLDB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PHLDB1 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 PHLDB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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