Seroatlas · Human Serome Atlas

INTU

Protein inturned

Also known as: CPLANE4, INTU_HUMAN, KIAA1284, PDZD6, PDZK6

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

Protein identityUniProt · HPA

UniProt accession
Q9ULD6
Gene
INTU
Ensembl
ENSG00000164066
Chromosome
4
Canonical length
942 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Basal body,Cytosol

OverviewNCBI Gene

Predicted to enable phosphatidylinositol binding activity. Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in several cellular components, including ciliary basal body; cytosol; and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

942 residues, UniProt reviewed canonical sequence.

>Q9ULD6|INTU
     1  MASVASCDSR PSSDELPGDP SSQEEDEDYD FEDRVSDSGS YSSASSDYDD LEPEWLDSVQ
    61  KNGELFYLEL SEDEEESLLP ETPTVNHVRF SENEIIIEDD YKERKKYEPK LKQFTKILRR
   121  KRLLPKRCNK KNSNDNGPVS ILKHQSNQKT GVIVQQRYKD VNVYVNPKKL TVIKAKEQLK
   181  LLEVLVGIIH QTKWSWRRTG KQGDGERLVV HGLLPGGSAM KSGQVLIGDV LVAVNDVDVT
   241  TENIERVLSC IPGPMQVKLT FENAYDVKRE TSHPRQKKTQ SNTSDLVKLL WGEEVEGIQQ
   301  SGLNTPHIIM YLTLQLDSET SKEEQEILYH YPMSEASQKL KSVRGIFLTL CDMLENVTGT
   361  QVTSSSLLLN GKQIHVAYWK ESDKLLLIGL PAEEVPLPRL RNMIENVIQT LKFMYGSLDS
   421  AFCQIENVPR LDHFFNLFFQ RALQPAKLHS SASPSAQQYD ASSAVLLDNL PGVRWLTLPL
   481  EIKMELDMAL SDLEAADFAE LSEDYYDMRR LYTILGSSLF YKGYLICSHL PKDDLIDIAV
   541  YCRHYCLLPL AAKQRIGQLI IWREVFPQHH LRPLADSSTE VFPEPEGRYF LLVVGLKHYM
   601  LCVLLEAGGC ASKAIGSPGP DCVYVDQVKT TLHQLDGVDS RIDERLASSP VPCLSCADWF
   661  LTGSREKTDS LTTSPILSRL QGTSKVATSP TCRRTLFGDY SLKTRKPSPS CSSGGSDNGC
   721  EGGEDDGFSP HTTPDAVRKQ RESQGSDGLE ESGTLLKVTK KKSTLPNPFH LGNLKKDLPE
   781  KELEIYNTVK LTSGPENTLF HYVALETVQG IFITPTLEEV AQLSGSIHPQ LIKNFHQCCL
   841  SIRAVFQQTL VEEKKKGLNS GDHSDSAKSV SSLNPVKEHG VLFECSPGNW TDQKKAPPVM
   901  AYWVVGRLFL HPKPQELYVC FHDSVTEIAI EIAFKLFFGL TL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against INTU 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.39
Highest tissue expression
12 nTPM

Expression across tissuesHPA

Tissue

  • retina: 12 nTPM
  • epididymis: 4.8 nTPM
  • basal ganglia: 3.9 nTPM
  • skin: 3.6 nTPM
  • cerebral cortex: 2.7 nTPM
  • pituitary gland: 2.7 nTPM

Single-cell type

  • ependymal cells: 422 nCPM
  • astrocytes: 291 nCPM
  • pituicytes/fscs: 196 nCPM
  • thyrotrophs: 191 nCPM
  • choroid plexus epithelial cells: 179 nCPM
  • endometrial ciliated cells: 162 nCPM

Immune cell

  • neutrophil: 1.3 nTPM
  • basophil: 1 nTPM
  • plasmacytoid DC: 0.4 nTPM
  • naive B-cell: 0.3 nTPM
  • classical monocyte: 0.2 nTPM
  • gdT-cell: 0.2 nTPM

Brain region

  • hypothalamus: 50 nTPM
  • cerebral cortex: 48 nTPM
  • basal ganglia: 48 nTPM
  • choroid plexus: 48 nTPM
  • amygdala: 47 nTPM
  • white matter: 46 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about INTU.

Disease | AllUniProt

Conditions INTU is implicated in, by any mechanism.

  • Short-rib thoracic dysplasia 20 with polydactyly (SRTD20) MIM:617925
  • Orofaciodigital syndrome 17 (OFD17) MIM:617926
  • Short-rib thoracic dysplasia 7/20 with polydactyly, digenic (SRTD7/20) MIM:614091

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 473 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.74
gnomAD pLI
0
gnomAD missense Z
0.38
DepMap mean gene effect
0.03
DepMap dependency class
none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

INTU is annotated at the cell surface, where native INTU is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label INTU as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/INTU. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...