Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KIF1BP Gene

Aliases for KIF1BP Gene

  • KIF1 Binding Protein 2 3
  • KIAA1279 2 3 4 6
  • Kinesin Binding Protein 2 3
  • KBP 3 4
  • KIF1-Binding Protein 3
  • TTC20 3

External Ids for KIF1BP Gene

Previous Symbols for KIF1BP Gene

  • KIAA1279

Summaries for KIF1BP Gene

Entrez Gene Summary for KIF1BP Gene

  • 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]

GeneCards Summary for KIF1BP Gene

KIF1BP (KIF1 Binding Protein) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KIF1BP Gene

  • Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.

Gene Wiki entry for KIF1BP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF1BP Gene

Genomics for KIF1BP Gene

Genomic Location for KIF1BP Gene

Start:
68,988,721 bp from pter
End:
69,016,983 bp from pter
Size:
28,263 bases
Orientation:
Plus strand

Genomic View for KIF1BP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIF1BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF1BP Gene

No data available for Regulatory Elements for KIF1BP Gene

Proteins for KIF1BP Gene

  • Protein details for KIF1BP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EK5-KBP_HUMAN
    Recommended name:
    KIF1-binding protein
    Protein Accession:
    Q96EK5
    Secondary Accessions:
    • A8K5M8
    • Q9BR89
    • Q9ULE1
    • Q9Y428

    Protein attributes for KIF1BP Gene

    Size:
    621 amino acids
    Molecular mass:
    71814 Da
    Quaternary structure:
    • Interacts with KIF1B. Interacts with STMN2.
    SequenceCaution:
    • Sequence=BAA86593.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KIF1BP Gene

Proteomics data for KIF1BP Gene at MOPED

Post-translational modifications for KIF1BP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIF1BP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIF1BP Gene

Domains for KIF1BP Gene

Protein Domains for KIF1BP Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

KBP_HUMAN
Family:
  • Belongs to the KIF1-binding protein family.:
    • Q96EK5
genes like me logo Genes that share domains with KIF1BP: view

No data available for Gene Families for KIF1BP Gene

Function for KIF1BP Gene

Molecular function for KIF1BP Gene

UniProtKB/Swiss-Prot Function: Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.

Gene Ontology (GO) - Molecular Function for KIF1BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0019894 kinesin binding IPI 16225668
genes like me logo Genes that share ontologies with KIF1BP: view

Phenotypes for KIF1BP Gene

MGI mutant phenotypes for KIF1BP:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with KIF1BP: view

miRNA for KIF1BP Gene

miRTarBase miRNAs that target KIF1BP

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIF1BP Gene

Localization for KIF1BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF1BP Gene

Cytoplasm, cytoskeleton.

Gene Ontology (GO) - Cellular Components for KIF1BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 16225668
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with KIF1BP: view

Pathways for KIF1BP Gene

SuperPathways for KIF1BP Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIF1BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006839 mitochondrial transport IMP 16225668
GO:0007399 nervous system development IBA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with KIF1BP: view

No data available for Pathways by source for KIF1BP Gene

Transcripts for KIF1BP Gene

mRNA/cDNA for KIF1BP Gene

Alternative Splicing Database (ASD) splice patterns (SP) for KIF1BP Gene

No ASD Table

Relevant External Links for KIF1BP Gene

GeneLoc Exon Structure for
KIF1BP
ECgene alternative splicing isoforms for
KIF1BP

Expression for KIF1BP Gene

mRNA expression in normal human tissues for KIF1BP Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KIF1BP Gene

mRNA Expression by UniProt/SwissProt for KIF1BP Gene

Q96EK5-KBP_HUMAN
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.
genes like me logo Genes that share expressions with KIF1BP: view

Orthologs for KIF1BP Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF1BP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1279 36
  • 99.79 (n)
  • 99.68 (a)
KIAA1279 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KBP 37
  • 95 (a)
OneToOne
KIAA1279 36
  • 92 (n)
  • 94.69 (a)
dog
(Canis familiaris)
Mammalia KIAA1279 36
  • 92.91 (n)
  • 95.49 (a)
KIAA1279 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2510003E04Rik 36
  • 85.58 (n)
  • 92.54 (a)
2510003E04Rik 16
2510003E04Rik 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1279 37
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1279 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC606294 36
  • 85.41 (n)
  • 91.25 (a)
chicken
(Gallus gallus)
Aves KBP 37
  • 69 (a)
OneToOne
KIAA1279 36
  • 72.8 (n)
  • 70.19 (a)
lizard
(Anolis carolinensis)
Reptilia KIAA1279 37
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16863 36
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1279 36
  • 64.85 (n)
  • 62.09 (a)
Str.4332 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8993 36
zebrafish
(Danio rerio)
Actinopterygii kbp 36
  • 60.04 (n)
  • 57.28 (a)
kbp 37
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009536 36
  • 45.09 (n)
  • 32.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14043 36
  • 46.71 (n)
  • 32.11 (a)
CG14043 37
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToMany
-- 37
  • 48 (a)
OneToMany
Species with no ortholog for KIF1BP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIF1BP Gene

ENSEMBL:
Gene Tree for KIF1BP (if available)
TreeFam:
Gene Tree for KIF1BP (if available)

Paralogs for KIF1BP Gene

No data available for Paralogs for KIF1BP Gene

Variants for KIF1BP Gene

Sequence variations from dbSNP and Humsavar for KIF1BP Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs6864 -- 69,016,838(+) TCCTA(A/C)ATTCC utr-variant-3-prime
rs1058645 -- 69,016,831(+) TTTGA(C/T)TTCCT utr-variant-3-prime
rs1125054 -- 69,002,757(-) GCACA(C/T)GCCAC intron-variant
rs1136102 -- 69,010,908(+) CTGAA(G/T)CTGAA reference, missense
rs1547804 -- 69,008,395(-) tatat(A/T)tattt intron-variant

Relevant External Links for KIF1BP Gene

HapMap Linkage Disequilibrium report
KIF1BP

No data available for Structural Variations from Database of Genomic Variants (DGV) for KIF1BP Gene

Disorders for KIF1BP Gene

(1) OMIM Diseases for KIF1BP Gene (609367)

UniProtKB/Swiss-Prot

KBP_HUMAN
  • Goldberg-Shprintzen syndrome (GOSHS) [MIM:609460]: A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. {ECO:0000269 PubMed:15883926, ECO:0000269 PubMed:23427148}. Note=The disease is caused by mutations affecting the gene represented in this entry.

No disorders were found for KIF1BP Gene.

Publications for KIF1BP Gene

  1. The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein. (PMID: 16225668) Wozniak M.J. … Lammers R. (BMC Cell Biol. 2005) 2 3 4
  2. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. (PMID: 15883926) Brooks A.S. … Hofstra R.M.W. (Am. J. Hum. Genet. 2005) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for KIF1BP Gene

Sources for KIF1BP Gene

Back to Top

Content