• Gene id: 286077

Gene Summary

• Gene Symbol: FAM83H   Gene   UCSC   Ensembl
• Aliases: AI3, AI3A
• Gene name: family with sequence similarity 83 member H
• Alternate names: protein FAM83H, FAM83H variant 1, FAM83H variant 2, truncated FAM83H,
• Gene location: 8q24.3 (143733778: 143723932)     Exons: 5     NC_000008.11
• Gene summary(Entrez): 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]
• OMIM: 609051

Protein Summary

• Protein general information: Q6ZRV2  
  • Name: Protein FAM83H
  • Length: 1179  
  • Mass: 127122
  • Tissue specificity: Expressed in the tooth follicle. {ECO
• Sequence:

  MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALAEGGSEAYSRFLATEGAPDFLCPEELEHVSRHLRPPQYVT
  REPPEGSLLDVDMDGSSGTYWPVNSDQAVPELDLGWPLTFGFQGTEVTTLVQPPPPDSPSIKDEARRMIRSAQQV
  VAVVMDMFTDVDLLSEVLEAAARRVPVYILLDEMNAQHFLDMADKCRVNLQHVDFLRVRTVAGPTYYCRTGKSFK
  GHVKEKFLLVDCAVVMSGSYSFMWSFEKIHRSLAHVFQGELVSSFDEEFRILFAQSEPLVPSAAALARMDAYALA
  PYAGAGPLVGVPGVGAPTPFSFPKRAHLLFPPPREEGLGFPSFLDPDRHFLSAFRREEPPRMPGGALEPHAGLRP
  LSRRLEAEAGPAGELAGARGFFQARHLEMDAFKRHSFATEGAGAVENFAAARQVSRQTFLSHGDDFRFQTSHFHR
  DQLYQQQYQWDPQLTPARPQGLFEKLRGGRAGFADPDDFTLGAGPRFPELGPDGHQRLDYVPSSASREVRHGSDP
  AFAPGPRGLEPSGAPRPNLTQRFPCQAAARPGPDPAPEAEPERRGGPEGRAGLRRWRLASYLSGCHGEDGGDDGL
  PAPMEAEAYEDDVLAPGGRAPAGDLLPSAFRVPAAFPTKVPVPGPGSGGNGPEREGPEEPGLAKQDSFRSRLNPL
  VQRSSRLRSSLIFSTSQAEGAAGAAAATEKVQLLHKEQTVSETLGPGGEAVRSAASTKVAELLEKYKGPARDPGG
  GAGAITVASHSKAVVSQAWREEVAAPGAVGGERRSLESCLLDLRDSFAQQLHQEAERQPGAASLTAAQLLDTLGR
  SGSDRLPSRFLSAQSHSTSPQGLDSPLPLEGSGAHQVLHNESKGSPTSAYPERKGSPTPGFSTRRGSPTTGFIEQ
  KGSPTSAYPERRGSPVPPVPERRSSPVPPVPERRGSLTLTISGESPKAGPAEEGPSGPMEVLRKGSLRLRQLLSP
  KGERRMEDEGGFPVPQENGQPESPRRLSLGQGDSTEAATEERGPRARLSSATANALYSSNLRDDTKAILEQISAH
  GQKHRAVPAPSPGPTHNSPELGRPPAAGVLAPDMSDKDKCSAIFRSDSLGTQGRLSRTLPASAEERDRLLRRMES
  MRKEKRVYSRFEVFCKKEEASSPGAGEGPAEEGTRDSKVGKFVPKILGTFKSKK

• Structural information:
  • Interpro: IPR012461  IPR041996  
  • CDD: cd09188
  • STRING: ENSP00000373565
• Other Databases: GeneCards:  FAM83H  Malacards:  FAM83H

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019901	protein kinase binding	IBA	molecular function
GO:0045095	keratin filament	IBA	colocalizes with
GO:1990254	keratin filament binding	IBA	molecular function
GO:0007165	signal transduction	IBA	biological process
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0044380	protein localization to cytoskeleton	IBA	biological process
GO:0045104	intermediate filament cytoskeleton organization	IBA	biological process
GO:1990254	keratin filament binding	IDA	molecular function
GO:0045095	keratin filament	IDA	colocalizes with
GO:0044380	protein localization to cytoskeleton	IMP	biological process
GO:0045104	intermediate filament cytoskeleton organization	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0031214	biomineral tissue development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0019901	protein kinase binding	IBA	molecular function
GO:0045095	keratin filament	IBA	colocalizes with
GO:1990254	keratin filament binding	IBA	molecular function
GO:0007165	signal transduction	IBA	biological process
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0044380	protein localization to cytoskeleton	IBA	biological process
GO:0045104	intermediate filament cytoskeleton organization	IBA	biological process
GO:1990254	keratin filament binding	IDA	molecular function
GO:0045095	keratin filament	IDA	colocalizes with
GO:0044380	protein localization to cytoskeleton	IMP	biological process
GO:0045104	intermediate filament cytoskeleton organization	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0031214	biomineral tissue development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Amelogenesis imperfecta	KEGG:H00615
Amelogenesis imperfecta	KEGG:H00615
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray