Homo sapiens Gene: KIAA1279
Summary
InnateDB Gene IDBG-76426.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KIAA1279
Gene Name KIAA1279
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000198954
Encoded Proteins
KIAA1279
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:68988731-69016982
Strand Forward strand
Band q22.1
Transcripts
ENST00000361983 ENSP00000354848
ENST00000481912
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.279580
RefSeq NM_015634
HUGO
OMIM
CCDS CCDS7284
HPRD 13848
IMGT
EMBL
GenPept
RNA Seq Atlas