Human Gene KIF1B (uc001aqw.4)
  Description: Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.
RefSeq Summary (NM_015074): This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:10,270,764-10,441,661 Size: 170,898 Total Exon Count: 47 Strand: +
Coding Region
   Position: hg19 chr1:10,292,387-10,436,645 Size: 144,259 Coding Exon Count: 46 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:10,270,764-10,441,661)mRNA (may differ from genome)Protein (1770 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KIF1B
CDC HuGE Published Literature: KIF1B
Positive Disease Associations: Body Mass Index , Carcinoma, Hepatocellular , Insulin , multiple sclerosis
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Carcinoma, Hepatocellular
    Hongxing Zhang et al. Nature genetics 2010, Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers., Nature genetics. [PubMed 20676096]
  3. Insulin
    James B Meigs et al. BMC medical genetics 2007, Genome-wide association with diabetes-related traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903298]
    Framingham 100K SNP data is a resource for association tests of known and novel genes with diabetes and related traits posted at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. Framingham 100K data replicate the TCF7L2 association with diabetes.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: KIF1B
Diseases sorted by gene-association score: charcot-marie-tooth disease, type 2a1* (1620), neuroblastoma* (344), charcot-marie-tooth disease* (235), pheochromocytoma* (188), charcot-marie-tooth neuropathy type 2a* (155), hereditary paraganglioma-pheochromocytoma syndromes* (106), kif1b-related pheochromocytoma* (100), kif1b-related neuroblastoma, susceptibility* (100), roussy-levy syndrome* (97), charcot-marie-tooth disease type 2a (13), hereditary motor and sensory neuropathy, type iic (12), charcot-marie-tooth disease, axonal, type 2f (12), tooth disease (12), charcot-marie-tooth disease, type 2i (12), charcot-marie-tooth disease, axonal, type 2n (12), charcot-marie-tooth disease, type 2j (12), charcot-marie-tooth disease, type 2b (10), charcot-marie-tooth disease, type 1b (10), charcot-marie-tooth disease, type 1d (9), motor peripheral neuropathy (9), amyotrophic neuralgia (9), charcot-marie-tooth disease, type 1c (9), neuropathy, recurrent, with pressure palsies (9), brachial plexus neuropathy (8), charcot-marie-tooth disease, type 2e (7), charcot-marie-tooth disease, type 1e (7), dejerine-sottas disease (7), charcot-marie-tooth disease, axonal, type 2l (7), charcot-marie-tooth disease, type 1a (6), charcot-marie-tooth disease, axonal, type 2k (5), neuropathy, congenital hypomyelinating (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D004997 Ethinyl Estradiol
  • D013749 Tetrachlorodibenzodioxin
  • C008261 lead acetate
  • C036990 2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline
  • C030370 2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone
  • C012606 4-vinyl-1-cyclohexene dioxide
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • C547126 AZM551248
  • D016604 Aflatoxin B1
  • D000643 Ammonium Chloride
          more ... click here to view the complete list

+  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: 41.02 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 577.48 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 -113.50252-0.450 Picture PostScript Text
3' UTR -1679.805016-0.335 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
  Pfam Domains:
PF00169 - PH domain
PF00225 - Kinesin motor domain
PF00498 - FHA domain
PF12423 - Kinesin protein 1B
PF12473 - Kinesin protein
PF16183 - Kinesin-associated
PF16796 - Microtubule binding

SCOP Domains:
49879 - SMAD/FHA domain
50729 - PH domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on O60333-2
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 orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Descriptions from all associated GenBank mRNAs
  LP895698 - Sequence 562 from Patent EP3253886.
AY139835 - Homo sapiens kinesin superfamily protein (KIF1B-alpha) mRNA, complete cds.
AF257176 - Homo sapiens kinesin superfamily protein KIF1B mRNA, complete cds.
AB011163 - Homo sapiens mRNA for KIAA0591 protein, partial cds.
AB040881 - Homo sapiens KIAA1448 mRNA for KIAA1448 protein.
BC115395 - Homo sapiens kinesin family member 1B, mRNA (cDNA clone MGC:134844 IMAGE:40067993), complete cds.
AB017133 - Homo sapiens KIAA0591/KIF1Bbeta mRNA, complete cds.
AY043362 - Homo sapiens kinesin superfamily protein 1B (KIF1B) mRNA, complete cds.
AB384601 - Synthetic construct DNA, clone: pF1KA1448, Homo sapiens KIF1B gene for kinesin family member 1B, complete cds, without stop codon, in Flexi system.
AB384504 - Synthetic construct DNA, clone: pF1KA0591, Homo sapiens KIF1B gene for kinesin family member 1B, complete cds, without stop codon, in Flexi system.
AB088210 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform I, complete cds.
AB088211 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform II, complete cds.
AB088212 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform III, complete cds.
AB088213 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform IV, complete cds.
AK308121 - Homo sapiens cDNA, FLJ98069.
JD210303 - Sequence 191327 from Patent EP1572962.
JD199364 - Sequence 180388 from Patent EP1572962.
AK297439 - Homo sapiens cDNA FLJ58122 complete cds, highly similar to Kinesin-like protein KIF1B.
AK074279 - Homo sapiens cDNA FLJ23699 fis, clone HEP10674, highly similar to Homo sapiens kinesin superfamily protein KIF1B mRNA.
BC001415 - Homo sapiens kinesin family member 1B, mRNA (cDNA clone IMAGE:3139918), complete cds.
CU674694 - Synthetic construct Homo sapiens gateway clone IMAGE:100017716 5' read KIF1B mRNA.
BT007174 - Homo sapiens kinesin family member 1B mRNA, complete cds.
KJ902280 - Synthetic construct Homo sapiens clone ccsbBroadEn_11674 KIF1B gene, encodes complete protein.
KR710781 - Synthetic construct Homo sapiens clone CCSBHm_00016943 KIF1B (KIF1B) mRNA, encodes complete protein.
AK054955 - Homo sapiens cDNA FLJ30393 fis, clone BRACE2008361, weakly similar to Mus musculus mRNA for KIF1B-beta.
AK022977 - Homo sapiens cDNA FLJ12915 fis, clone NT2RP2004538, highly similar to Mus musculus kinesin-like protein KIF1B (Kif1b) mRNA.
JD307763 - Sequence 288787 from Patent EP1572962.
JD165926 - Sequence 146950 from Patent EP1572962.
JD315862 - Sequence 296886 from Patent EP1572962.
JD506702 - Sequence 487726 from Patent EP1572962.
JD116275 - Sequence 97299 from Patent EP1572962.
JD183050 - Sequence 164074 from Patent EP1572962.
JD090233 - Sequence 71257 from Patent EP1572962.
JD566922 - Sequence 547946 from Patent EP1572962.
JD499428 - Sequence 480452 from Patent EP1572962.
JD515927 - Sequence 496951 from Patent EP1572962.
JD376180 - Sequence 357204 from Patent EP1572962.
JD214312 - Sequence 195336 from Patent EP1572962.
JD044608 - Sequence 25632 from Patent EP1572962.
JD396747 - Sequence 377771 from Patent EP1572962.
JD546784 - Sequence 527808 from Patent EP1572962.
DQ578101 - Homo sapiens piRNA piR-46213, complete sequence.
JD238811 - Sequence 219835 from Patent EP1572962.
JD542707 - Sequence 523731 from Patent EP1572962.
JD212668 - Sequence 193692 from Patent EP1572962.
JD198044 - Sequence 179068 from Patent EP1572962.
JD413333 - Sequence 394357 from Patent EP1572962.
JD246833 - Sequence 227857 from Patent EP1572962.
JD246834 - Sequence 227858 from Patent EP1572962.
JD259090 - Sequence 240114 from Patent EP1572962.
JD417699 - Sequence 398723 from Patent EP1572962.
JD258459 - Sequence 239483 from Patent EP1572962.
JD411961 - Sequence 392985 from Patent EP1572962.
JD313332 - Sequence 294356 from Patent EP1572962.
JD473596 - Sequence 454620 from Patent EP1572962.
JD052750 - Sequence 33774 from Patent EP1572962.
JD194787 - Sequence 175811 from Patent EP1572962.
JD280196 - Sequence 261220 from Patent EP1572962.
JD554179 - Sequence 535203 from Patent EP1572962.
JD561260 - Sequence 542284 from Patent EP1572962.
JD421446 - Sequence 402470 from Patent EP1572962.
JD179064 - Sequence 160088 from Patent EP1572962.
JD339471 - Sequence 320495 from Patent EP1572962.
JD177489 - Sequence 158513 from Patent EP1572962.
JD096440 - Sequence 77464 from Patent EP1572962.
JD308917 - Sequence 289941 from Patent EP1572962.
JD332371 - Sequence 313395 from Patent EP1572962.
JD448358 - Sequence 429382 from Patent EP1572962.
JD351761 - Sequence 332785 from Patent EP1572962.
AK025761 - Homo sapiens cDNA: FLJ22108 fis, clone HEP17933.
BC047632 - Homo sapiens kinesin family member 1B, mRNA (cDNA clone IMAGE:4817015).
DQ586018 - Homo sapiens piRNA piR-53130, complete sequence.
DQ591240 - Homo sapiens piRNA piR-58352, complete sequence.
AK025771 - Homo sapiens cDNA: FLJ22118 fis, clone HEP18789.
DQ585306 - Homo sapiens piRNA piR-52418, complete sequence.
JD324246 - Sequence 305270 from Patent EP1572962.
JD413363 - Sequence 394387 from Patent EP1572962.
JD182684 - Sequence 163708 from Patent EP1572962.
JD084227 - Sequence 65251 from Patent EP1572962.
JD246884 - Sequence 227908 from Patent EP1572962.
JD421864 - Sequence 402888 from Patent EP1572962.
JD446318 - Sequence 427342 from Patent EP1572962.
JD446317 - Sequence 427341 from Patent EP1572962.
JD170850 - Sequence 151874 from Patent EP1572962.
JD217806 - Sequence 198830 from Patent EP1572962.
JD294109 - Sequence 275133 from Patent EP1572962.
JD278834 - Sequence 259858 from Patent EP1572962.
JD540399 - Sequence 521423 from Patent EP1572962.
JD421452 - Sequence 402476 from Patent EP1572962.
JD179071 - Sequence 160095 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O60333 (Reactome details) participates in the following event(s):

R-HSA-983266 Kinesins bind microtubules
R-HSA-6811426 Retrograde COPI vesicles bind kinesin and microtubules
R-HSA-6811423 Retrograde vesicle is tethered at the ER by the NRZ complex and t-SNAREs
R-HSA-983189 Kinesins
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-109582 Hemostasis
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0591, KIAA1448, NM_015074, NP_055889, O60333-2
UCSC ID: uc001aqw.4
RefSeq Accession: NM_015074
Protein: O60333-2, splice isoform of O60333 CCDS: CCDS111.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KIF1B:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015074.3
exon count: 47CDS single in 3' UTR: no RNA size: 10585
ORF size: 5313CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 10565.50frame shift in genome: no % Coverage: 99.96
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.