Seroatlas · Human Serome Atlas

AHI1

Jouberin

Also known as: AHI1_HUMAN, FLJ20069, JBTS3, ORF1

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

Protein identityUniProt · HPA

UniProt accession
Q8N157
Gene
AHI1
Ensembl
ENSG00000135541
Chromosome
6
Canonical length
1196 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Primary cilium,Centrosome

OverviewNCBI Gene

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

1196 residues, UniProt reviewed canonical sequence.

>Q8N157|AHI1
     1  MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT
    61  SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED
   121  KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET
   181  DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE
   241  VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK
   301  PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM
   361  ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW
   421  EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK
   481  LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP
   541  DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK
   601  HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL
   661  SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS
   721  MIRIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL
   781  EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA
   841  ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN
   901  MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS
   961  FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN
  1021  MLTAQEILHQ FGFTQTGIIS IERKPCNHQV DTAPTVVALY DYTANRSDEL TIHRGDIIRV
  1081  FFKDNEDWWY GSIGKGQEGY FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP
  1141  QKQSINKNKS QDFRLGSESM THSEMRKEQS HEDQGHIMDT RMRKNKQAGR KVTLIE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AHI1 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)
0.45
Highest tissue expression
25 nTPM

Expression across tissuesHPA

Tissue

  • retina: 25 nTPM
  • testis: 12 nTPM
  • pituitary gland: 7.8 nTPM
  • parathyroid gland: 6.6 nTPM
  • adrenal gland: 6 nTPM
  • epididymis: 5.8 nTPM

Single-cell type

  • thyrotrophs: 2,329 nCPM
  • lactotrophs: 2,085 nCPM
  • rod photoreceptor cells: 2,048 nCPM
  • somatotrophs: 1,929 nCPM
  • cone photoreceptor cells: 1,511 nCPM
  • gonadotrophs: 1,278 nCPM

Immune cell

  • plasmacytoid DC: 22 nTPM
  • naive B-cell: 14 nTPM
  • memory B-cell: 12 nTPM
  • basophil: 11 nTPM
  • NK-cell: 6.4 nTPM
  • gdT-cell: 6 nTPM

Brain region

  • hypothalamus: 59 nTPM
  • cerebellum: 46 nTPM
  • white matter: 45 nTPM
  • cerebral cortex: 41 nTPM
  • midbrain: 39 nTPM
  • medulla oblongata: 33 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AHI1.

Disease | AllUniProt

Conditions AHI1 is implicated in, by any mechanism.

Disease | GeneticClinVar

271 pathogenic / likely-pathogenic of 1,770 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)
0.95
gnomAD pLI
0
gnomAD missense Z
-0.03
DepMap mean gene effect
-0.06
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AHI1 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 AHI1 as an antibody target. Whether an autoantibody or antibody against AHI1 could matter depends on whether native AHI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AHI1 is annotated at the cell surface, where native AHI1 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 AHI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/AHI1. 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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