FAM83H - family with sequence similarity 83 member H Gene

Also Known as AI3; AI3A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 286077

About FAM83H

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,723,933-143,733,779 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 266 orthologues, 7 paralogues and is associated with 2 phenotypes. Broad expression in skin (RPKM 7.7), esophagus (RPKM 6.0) and 20 other tissues.

Summary

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]

FAM83H Products (1)

mRNA Protein Name
NM_198488.5 NP_940890.4 protein FAM83H

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables keratin filament binding IDA
IDA: Inferred from direct assay
23902688 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23455922 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
23902688 GOA
Biological Process GO Annotation Evidence References Source
involved in intermediate filament cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
23902688 GOA
involved in positive regulation of cell migration IMP
IMP: Inferred from mutant phenotype
23902688 GOA
involved in protein localization to cytoskeleton IMP
IMP: Inferred from mutant phenotype
23902688 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with keratin filament IDA
IDA: Inferred from direct assay
23902688 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAM83H Protein Structure

DUF1669

DUF1669: Protein of unknown function (DUF1669) (6 - 284)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1179 a.a.
Protein Preferred Names Protein Names

protein FAM83H

FAM83H Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FAM83H Q6ZRV2 CSNK1A1 Homo sapiens P48729
Anti Tag CoIP
29789297
Intra
FAM83H Q6ZRV2 CSNK1A1 Homo sapiens P48729
IF
29789297
Intra
FAM83H Q6ZRV2 CSNK1A1 Homo sapiens P48729
Anti Tag CoIP
26496610
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Amelogenesis Imperfecta, Type Iiia

  • Ai3

  • Adhcai

  • Amelogenesis Imperfecta Type 3

  • AI3A

  • Amelogenesis Imperfecta, Type Iii

  • Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant

  • Amelogenesis Imperfecta Type 3a

  • Amelogenesis Imperfecta Hypomineralization Type

  • Amelogenesis Imperfecta Type Iii

  • Hypocalcified Amelogenesis Imperfecta

  • Amelogenesis Imperfecta, Type 3

  • Amelogenesis Imperfecta, Hypomineralization Type

  • Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type

  • Amelogenesis Imperfecta 3a

  • Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Amelogenesis Imperfecta

  • Ai

  • Congenital Enamel Hypoplasia

  • Al - [Amelogenesis Imperfecta]
Non-Invasive Bladder Urothelial Carcinoma

  • Stage 0 Bladder Urothelial Carcinoma
Amelogenesis Imperfecta, Type Iiic

  • AI3C

  • Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive

  • Amelogenesis Imperfecta Type 3c

  • Amelogenesis Imperfecta, Type 3c

  • Amelogenesis Imperfecta Type Iiic

  • Autosomal Recessive Amelogenesis Imperfecta Hypocalcification Type

  • Amelogenesis Imperfecta 3c
Brain Oligodendroglioma

  • Oligodendroglioma Of Brain
Jalili Syndrome

  • Cone-Rod Dystrophy And Amelogenesis Imperfecta

  • Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome

  • Cone-Rod Dystrophy Amelogenesis Imperfecta

  • Cone-Rod Dystrophy With Amelogenesis Imperfecta

  • JALIS

  • Cone Rod Dystrophy Amelogenesis Imperfecta
Teeth Hard Tissue Disease
Hypercementosis

  • Cementation Hyperplasia
Amelogenesis Imperfecta, Type Iv

  • AI4

  • Aihht

  • Amelogenesis Imperfecta Type 4

  • Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism

  • Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, With Taurodontism

  • Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type With Taurodontism

  • Amelogenesis Imperfecta 4

  • Ait

  • Amelogenesis Imperfecta 2 Hypocalcification Type

  • Amelogenesis Imperfecta Hypomineralization Type

  • Amelogenesis Imperfecta Type Iv

  • Amelogenesis Imperfecta With Taurodontism
Trichodentoosseous Syndrome

  • Tricho-Dento-Osseous Syndrome

  • Tdo Syndrome

  • Trichodontoosseous Syndrome

  • TDO

  • Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
Vexas Syndrome

  • VEXAS

  • Vexas Syndrome, Somatic

  • Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory And Somatic Syndrome

  • Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome

  • Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic
Junctional Epidermolysis Bullosa

  • Epidermolysis Bullosa, Junctional

  • Jeb

  • Epidermolysis Bullosa Atrophicans

  • Congenital Junctional Epidermolysis Bullosa

  • Epidermolysis Bullosa Junctional

  • Junctional Eb - [Epidermolysis Bullosa]

  • Jeb - [Junctional Epidermolysis Bullosa]

  • Lucidolytic Epidermolysis Bullosa
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04726 FAM83H Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta FAM83H VGNC VGNC:72336
Felis catus FAM83H VGNC VGNC:62134
Rattus norvegicus FAM83H RGD RGD:1305866
Mus musculus FAM83H MGD MGI:2145900
Bos taurus FAM83H VGNC VGNC:28839
Canis familiaris FAM83H VGNC VGNC:40705
Others FAM83H NCBI