Description: Homo sapiens KIFBP (KIFBP), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_015634): 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]. Transcript (Including UTRs) Position: hg19 chr10:70,748,477-70,776,739 Size: 28,263 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr10:70,748,589-70,776,172 Size: 27,584 Coding Exon Count: 7
ID:KBP_HUMAN DESCRIPTION: RecName: Full=KIF1-binding protein; FUNCTION: Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. Regulates mitochondrial transport by modulating KIF1B motor activity. SUBUNIT: Interacts with KIF1B. INTERACTION: P16444:DPEP1; NbExp=2; IntAct=EBI-744150, EBI-749514; P47804:RGR; NbExp=2; IntAct=EBI-744150, EBI-745818; SUBCELLULAR LOCATION: Mitochondrion. 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. DISEASE: Defects in KIAA1279 are the cause of Goldberg-Shprintzen megacolon syndrome (GOSHS) [MIM:609460]. GOSHS is characterized by microcephaly, mental retardation and facial dysmorphism, as well as phenotypes related to Hirschsprung disease syndrome. SIMILARITY: Belongs to the KIF1-binding protein family. SEQUENCE CAUTION: Sequence=BAA86593.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96EK5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006839 mitochondrial transport GO:0007275 multicellular organism development GO:0007399 nervous system development GO:0030154 cell differentiation
US Server
