• Gene id: 84668

Gene Summary

• Gene Symbol: FAM126A   Gene   UCSC   Ensembl
• Aliases: DRCTNNB1A, HCC, HLD5, HYCC1
• Gene name: family with sequence similarity 126 member A
• Alternate names: hyccin, down regulated by Ctnnb1, a, down-regulated by CTNNB1 protein A,
• Gene location: 7p15.3 (23014132: 22895847)     Exons: 14     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq,
• OMIM: 610531

Protein Summary

• Protein general information: Q9BYI3  
  • Name: Hyccin (Down regulated by CTNNB1 protein A) (Protein FAM126A)
  • Length: 521  
  • Mass: 57625
  • Tissue specificity: Widely expressed. Highest levels in heart, brain, placenta, spleen and testis. {ECO
• Sequence:

  MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQLFEFYRSGEEQLLQFT
  LQFLPELIWCYLAVSASRNVHSSGCIEALLLGVYNLEIVDKQGHTKVLSFTIPSLSKPSVYHEPSSIGSMALTES
  ALSQHGLSKVVYSGPHPQREMLTAQNRFEVLTFLLLCYNAALTYMPSVSLQSLCQICSRICVCGYPRQHVRKYKG
  ISSRIPVSSGFMVQMLTGIYFAFYNGEWDLAQKALDDIIYRAQLELYPEPLLVANAIKASLPHGPMKSNKEGTRC
  IQVEITPTSSRISRNAVTSMSIRGHRWKRHGNTELTGQEELMEISEVDEGFYSRAASSTSQSGLSNSSHNCSNKP
  SIGKNHRRSGGSKTGGKEKETTGESCKDHFARKQTQRAQSENLELLSLKRLTLTTSQSLPKPSSHGLAKTAATVF
  SKSFEQVSGVTVPHNPSSAVGCGAGTDANRFSACSLQEEKLIYVSERTELPMKHQSGQQRPPSISITLSTD

• Structural information:
  • Interpro: IPR018619  
  • PDB: 5DSE 6BQ1
  • PDBsum: 5DSE 6BQ1
  • STRING: ENSP00000403396
• Other Databases: GeneCards:  FAM126A  Malacards:  FAM126A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0046854	phosphatidylinositol phosphorylation	IBA	biological process
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0072659	protein localization to plasma membrane	IDA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0042552	myelination	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042552	myelination	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Hypomyelinating leukodystrophy	KEGG:H00679
Hypomyelinating leukodystrophy	KEGG:H00679
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray