Version 5.4
Homo sapiens Protein: FAM126A
Summary
InnateDB Protein IDBP-367860.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FAM126A
Protein Name family with sequence similarity 126, member A
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000403396
InnateDB Gene IDBG-9521 (FAM126A)
Protein Structure
UniProt Annotation
Function May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system. {ECO:0000269PubMed:16951682}.
Subcellular Localization Cytoplasm. Membrane. Note=According to PubMed:10910037, it is mainly cytoplasmic while according to PubMed:16951682, it is a membrane protein.
Disease Associations Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]: A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed. {ECO:0000269PubMed:16951682, ECO:0000269PubMed:21911699}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Highest levels in heart, brain, placenta, spleen and testis. {ECO:0000269PubMed:10910037}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004871 signal transducer activity
Biological Process
GO:0007165 signal transduction
GO:0008150 biological_process
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR018619 Hyccin
PFAM PF09790
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BYI3
PhosphoSite PhosphoSite-Q9BYI3
TrEMBL A0A024RA06
UniProt Splice Variant
Entrez Gene 84668
UniGene Hs.85603
RefSeq NP_115970
HUGO HGNC:24587
OMIM 610531
CCDS CCDS5377
HPRD 16837
IMGT
EMBL AB030241 AC005682 AC006039 AK054887 AK056319 BC018710 BX640757 CH236948 CH471073
GenPept AAH18710 AAS01991 AAS07519 BAB39849 BAB70823 BAB71148 CAE45864 EAL24262 EAW93767 EAW93768

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca