Seroatlas · Human Serome Atlas

FAM83H

Protein FAM83H

Also known as: FA83H_HUMAN, FLJ46072

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

Protein identityUniProt · HPA

UniProt accession
Q6ZRV2
Gene
FAM83H
Ensembl
ENSG00000180921
Chromosome
8
Canonical length
1179 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

1179 residues, UniProt reviewed canonical sequence.

>Q6ZRV2|FAM83H
     1  MARRSQSSSQ GDNPLAPGYL PPHYKEYYRL AVDALAEGGS EAYSRFLATE GAPDFLCPEE
    61  LEHVSRHLRP PQYVTREPPE GSLLDVDMDG SSGTYWPVNS DQAVPELDLG WPLTFGFQGT
   121  EVTTLVQPPP PDSPSIKDEA RRMIRSAQQV VAVVMDMFTD VDLLSEVLEA AARRVPVYIL
   181  LDEMNAQHFL DMADKCRVNL QHVDFLRVRT VAGPTYYCRT GKSFKGHVKE KFLLVDCAVV
   241  MSGSYSFMWS FEKIHRSLAH VFQGELVSSF DEEFRILFAQ SEPLVPSAAA LARMDAYALA
   301  PYAGAGPLVG VPGVGAPTPF SFPKRAHLLF PPPREEGLGF PSFLDPDRHF LSAFRREEPP
   361  RMPGGALEPH AGLRPLSRRL EAEAGPAGEL AGARGFFQAR HLEMDAFKRH SFATEGAGAV
   421  ENFAAARQVS RQTFLSHGDD FRFQTSHFHR DQLYQQQYQW DPQLTPARPQ GLFEKLRGGR
   481  AGFADPDDFT LGAGPRFPEL GPDGHQRLDY VPSSASREVR HGSDPAFAPG PRGLEPSGAP
   541  RPNLTQRFPC QAAARPGPDP APEAEPERRG GPEGRAGLRR WRLASYLSGC HGEDGGDDGL
   601  PAPMEAEAYE DDVLAPGGRA PAGDLLPSAF RVPAAFPTKV PVPGPGSGGN GPEREGPEEP
   661  GLAKQDSFRS RLNPLVQRSS RLRSSLIFST SQAEGAAGAA AATEKVQLLH KEQTVSETLG
   721  PGGEAVRSAA STKVAELLEK YKGPARDPGG GAGAITVASH SKAVVSQAWR EEVAAPGAVG
   781  GERRSLESCL LDLRDSFAQQ LHQEAERQPG AASLTAAQLL DTLGRSGSDR LPSRFLSAQS
   841  HSTSPQGLDS PLPLEGSGAH QVLHNESKGS PTSAYPERKG SPTPGFSTRR GSPTTGFIEQ
   901  KGSPTSAYPE RRGSPVPPVP ERRSSPVPPV PERRGSLTLT ISGESPKAGP AEEGPSGPME
   961  VLRKGSLRLR QLLSPKGERR MEDEGGFPVP QENGQPESPR RLSLGQGDST EAATEERGPR
  1021  ARLSSATANA LYSSNLRDDT KAILEQISAH GQKHRAVPAP SPGPTHNSPE LGRPPAAGVL
  1081  APDMSDKDKC SAIFRSDSLG TQGRLSRTLP ASAEERDRLL RRMESMRKEK RVYSRFEVFC
  1141  KKEEASSPGA GEGPAEEGTR DSKVGKFVPK ILGTFKSKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM83H 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)
0.62
Highest tissue expression
68 nTPM

Expression across tissuesHPA

Tissue

  • esophagus: 68 nTPM
  • skin: 34 nTPM
  • vagina: 22 nTPM
  • cervix: 16 nTPM
  • salivary gland: 16 nTPM
  • pancreas: 13 nTPM

Single-cell type

  • papillary tip epithelial cells: 22 nCPM
  • renal collecting duct principal cells: 14 nCPM
  • renal connecting tubule cells: 12 nCPM
  • loop of henle epithelial cells: 11 nCPM
  • renal collecting duct intercalated cells: 9.3 nCPM
  • podocytes: 8.3 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 3.6 nTPM
  • midbrain: 3.4 nTPM
  • cerebral cortex: 2.8 nTPM
  • white matter: 2.8 nTPM
  • hippocampal formation: 2.4 nTPM
  • amygdala: 2.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM83H.

Disease | AllUniProt

Conditions FAM83H is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 347 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • FAM83H-related disorder

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)
0.36
gnomAD pLI
0.89
gnomAD missense Z
-0.42
DepMap mean gene effect
-0.12
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% 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 FAM83H 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 FAM83H as an antibody target. Whether an autoantibody or antibody against FAM83H could matter depends on whether native FAM83H is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM83H 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 FAM83H as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FAM83H. 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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