Version 5.4
Homo sapiens Protein: KIAA1279
Summary
InnateDB Protein IDBP-76428.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KIAA1279
Protein Name KIAA1279
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000354848
InnateDB Gene IDBG-76426 (KIAA1279)
Protein Structure
UniProt Annotation
Function Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. {ECO:0000269PubMed:16225668, ECO:0000269PubMed:20621975, ECO:0000269PubMed:23427148}.
Subcellular Localization Cytoplasm, cytoskeleton {ECO:0000269PubMed:16225668, ECO:0000269PubMed:20621975, ECO:0000269PubMed:23427148}.
Disease Associations Goldberg-Shprintzen megacolon syndrome (GOSHS) [MIM:609460]: A disorder characterized by Hirschsprung disease, microcephaly, hypertelorism, submucous cleft palate, short stature, and developmental delay. {ECO:0000269PubMed:15883926, ECO:0000269PubMed:23427148}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and brain. Not expressed in blood leukocytes. {ECO:0000269PubMed:10574462, ECO:0000269PubMed:16225668}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 40 experimentally validated interaction(s) in this database.
Experimentally validated
Total 40 [view]
Protein-Protein 40 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0019894 kinesin binding
Biological Process
GO:0006839 mitochondrial transport
GO:0007399 nervous system development
GO:0030154 cell differentiation
Cellular Component
GO:0005739 mitochondrion
GO:0005856 cytoskeleton
Protein Structure and Domains
PDB ID
InterPro IPR022083 KIF-1 binding protein
PFAM PF12309
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96EK5
PhosphoSite PhosphoSite-Q96EK5
TrEMBL
UniProt Splice Variant
Entrez Gene 26128
UniGene Hs.279580
RefSeq NP_056449
HUGO HGNC:23419
OMIM 609367
CCDS CCDS7284
HPRD 13848
IMGT
EMBL AB033105 AK291343 AL050190 AL359844 BC012180
GenPept AAH12180 BAA86593 BAF84032 CAB43311 CAH72378

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