Human Gene KIFBP (ENST00000361983.7_4) from GENCODE V47lift37
  Description: kinesin family binding protein (from RefSeq NM_015634.4)
Gencode Transcript: ENST00000361983.7_4
Gencode Gene: ENSG00000198954.9_10
Transcript (Including UTRs)
   Position: hg19 chr10:70,748,559-70,776,738 Size: 28,180 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr10:70,748,589-70,776,172 Size: 27,584 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:70,748,559-70,776,738)mRNA (may differ from genome)Protein (621 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsMGIOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.26 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 667.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.6030-0.153 Picture PostScript Text
3' UTR -105.30566-0.186 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022083 - KBP
IPR011990 - TPR-like_helical

Pfam Domains:
PF12309 - KIF-1 binding protein C terminal

SCOP Domains:
81901 - HCP-like
48452 - TPR-like

ModBase Predicted Comparative 3D Structure on Q96EK5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019894 kinesin binding

Biological Process:
GO:0006839 mitochondrial transport
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0030154 cell differentiation

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  LF208771 - JP 2014500723-A/16274: Polycomb-Associated Non-Coding RNAs.
LF384640 - JP 2014500723-A/192143: Polycomb-Associated Non-Coding RNAs.
BC006427 - Homo sapiens KIAA1279, mRNA (cDNA clone IMAGE:2958638).
AB033105 - Homo sapiens KIAA1279 mRNA for KIAA1279 protein.
AK291343 - Homo sapiens cDNA FLJ75692 complete cds.
JD024909 - Sequence 5933 from Patent EP1572962.
BC012180 - Homo sapiens KIAA1279, mRNA (cDNA clone MGC:20462 IMAGE:4550085), complete cds.
AB384169 - Synthetic construct DNA, clone: pF1KSDA1279, Homo sapiens KIAA1279 gene for KIAA1279 protein, complete cds, without stop codon, in Flexi system.
KJ893525 - Synthetic construct Homo sapiens clone ccsbBroadEn_02919 KIAA1279 gene, encodes complete protein.
JD033960 - Sequence 14984 from Patent EP1572962.
AL050190 - Homo sapiens mRNA; cDNA DKFZp586B0923 (from clone DKFZp586B0923).
LF322630 - JP 2014500723-A/130133: Polycomb-Associated Non-Coding RNAs.
LF322629 - JP 2014500723-A/130132: Polycomb-Associated Non-Coding RNAs.
LF322628 - JP 2014500723-A/130131: Polycomb-Associated Non-Coding RNAs.
LF322627 - JP 2014500723-A/130130: Polycomb-Associated Non-Coding RNAs.
JD551362 - Sequence 532386 from Patent EP1572962.
LF322626 - JP 2014500723-A/130129: Polycomb-Associated Non-Coding RNAs.
JD285980 - Sequence 267004 from Patent EP1572962.
JD266849 - Sequence 247873 from Patent EP1572962.
JD180972 - Sequence 161996 from Patent EP1572962.
JD550932 - Sequence 531956 from Patent EP1572962.
JD235594 - Sequence 216618 from Patent EP1572962.
JD124410 - Sequence 105434 from Patent EP1572962.
MA620217 - JP 2018138019-A/192143: Polycomb-Associated Non-Coding RNAs.
MA558207 - JP 2018138019-A/130133: Polycomb-Associated Non-Coding RNAs.
MA558206 - JP 2018138019-A/130132: Polycomb-Associated Non-Coding RNAs.
MA558205 - JP 2018138019-A/130131: Polycomb-Associated Non-Coding RNAs.
MA558204 - JP 2018138019-A/130130: Polycomb-Associated Non-Coding RNAs.
MA558203 - JP 2018138019-A/130129: Polycomb-Associated Non-Coding RNAs.
MA444348 - JP 2018138019-A/16274: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5M8, ENST00000361983.1, ENST00000361983.2, ENST00000361983.3, ENST00000361983.4, ENST00000361983.5, ENST00000361983.6, KBP , KBP_HUMAN, KIAA1279 , KIF1BP , KIFBP , NM_015634, Q96EK5, Q9BR89, Q9ULE1, Q9Y428, uc318clp.1, uc318clp.2
UCSC ID: ENST00000361983.7_4
RefSeq Accession: NM_015634.4
Protein: Q96EK5 (aka KBP_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.