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Aliases for KIF1BP Gene

Aliases for KIF1BP Gene

  • KIF1 Binding Protein 2 3 5
  • KIAA1279 2 3 4
  • Kinesin Binding Protein 2 3
  • KBP 3 4
  • TTC20 3

External Ids for KIF1BP Gene

Previous HGNC 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. Diseases associated with KIF1BP include Goldberg-Shprintzen Megacolon Syndrome and Shprintzen-Goldberg Syndrome. GO annotations related to this gene include kinesin binding.

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

Regulatory Elements for KIF1BP Gene

Enhancers for KIF1BP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KIF1BP on UCSC Golden Path with GeneCards custom track

Promoters for KIF1BP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIF1BP on UCSC Golden Path with GeneCards custom track

Genomic Location for KIF1BP Gene

68,988,721 bp from pter
69,016,983 bp from pter
28,263 bases
Plus strand

Genomic View for KIF1BP Gene

Genes around KIF1BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF1BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF1BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF1BP Gene

Proteins for KIF1BP Gene

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

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

    Protein attributes for KIF1BP Gene

    621 amino acids
    Molecular mass:
    71814 Da
    Quaternary structure:
    • Interacts with KIF1B. Interacts with STMN2.
    • 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

  • Ubiquitination at Lys 547 and Lys 564
  • Modification sites at PhosphoSitePlus

Other Protein References for KIF1BP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIF1BP Gene

Domains & Families for KIF1BP Gene

Gene Families for KIF1BP Gene

Protein Domains for KIF1BP Gene


Suggested Antigen Peptide Sequences for KIF1BP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

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.
genes like me logo Genes that share phenotypes with KIF1BP: view

Human Phenotype Ontology for KIF1BP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF1BP Gene

MGI Knock Outs for KIF1BP:

Animal Model Products

miRNA for KIF1BP Gene

miRTarBase miRNAs that target KIF1BP

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
genes like me logo Genes that share ontologies with KIF1BP: view

No data available for Subcellular locations from COMPARTMENTS for KIF1BP Gene

Pathways & Interactions for KIF1BP Gene

SuperPathways for KIF1BP Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIF1BP Gene


No data available for Pathways by source and SIGNOR curated interactions for KIF1BP Gene

Drugs & Compounds for KIF1BP Gene

No Compound Related Data Available

Transcripts for KIF1BP Gene

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP1: - -
SP2: -

Relevant External Links for KIF1BP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIF1BP Gene

mRNA expression in normal human tissues for KIF1BP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIF1BP Gene

This gene is overexpressed in Cervix (14.5) and Adrenal (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KIF1BP Gene

mRNA Expression by UniProt/SwissProt for KIF1BP Gene

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 expression patterns with KIF1BP: view

Protein tissue co-expression partners for KIF1BP Gene

- Elite partner

No data available for mRNA differential expression in normal tissues for KIF1BP Gene

Orthologs for KIF1BP Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF1BP Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia KIAA1279 35
  • 92 (n)
  • 94.69 (a)
KBP 36
  • 95 (a)
(Canis familiaris)
Mammalia KIAA1279 35
  • 92.91 (n)
  • 95.49 (a)
KIAA1279 36
  • 95 (a)
(Mus musculus)
Mammalia 2510003E04Rik 35
  • 85.58 (n)
  • 92.54 (a)
Kif1bp 16
2510003E04Rik 36
  • 92 (a)
(Pan troglodytes)
Mammalia KIAA1279 35
  • 99.79 (n)
  • 99.68 (a)
KIAA1279 36
  • 100 (a)
(Rattus norvegicus)
Mammalia LOC606294 35
  • 85.41 (n)
  • 91.25 (a)
(Monodelphis domestica)
Mammalia KIAA1279 36
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia KIAA1279 36
  • 65 (a)
(Gallus gallus)
Aves KIAA1279 35
  • 72.8 (n)
  • 70.19 (a)
KBP 36
  • 69 (a)
(Anolis carolinensis)
Reptilia KIAA1279 36
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1279 35
  • 64.85 (n)
  • 62.09 (a)
Str.4332 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16863 35
(Danio rerio)
Actinopterygii kbp 35
  • 60.04 (n)
  • 57.28 (a)
kbp 36
  • 54 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8993 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009536 35
  • 45.09 (n)
  • 32.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14043 35
  • 46.71 (n)
  • 32.11 (a)
CG14043 36
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
-- 36
  • 48 (a)
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

Gene Tree for KIF1BP (if available)
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
rs2255607 - 68,989,028(-) CGGGC(A/C/G/T)GTCCT reference, missense
rs1547804 -- 69,008,395(-) tatat(A/T)tattt intron-variant
rs1547805 -- 69,008,393(-) TATAT(A/T)TTTTT intron-variant
rs6864 -- 69,016,838(+) TCCTA(A/C)ATTCC utr-variant-3-prime
rs3086464 -- 69,011,643(+) ctccc(-/CA)aaagt intron-variant

Variation tolerance for KIF1BP Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.26; 81.20% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for KIF1BP Gene

Disorders for KIF1BP Gene

MalaCards: The human disease database

(5) MalaCards diseases for KIF1BP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
goldberg-shprintzen megacolon syndrome
  • goldberg-shprintzen syndrome
shprintzen-goldberg syndrome
  • goldberg-shprintzen megacolon syndrome
  • dilatation of colon
miller-dieker lissencephaly syndrome
  • mds
hirschsprung disease 1
  • hirschsprung's disease
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Relevant External Links for KIF1BP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KIF1BP: view

No data available for Genatlas 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 67
  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
  3. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  4. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for KIF1BP Gene

Sources for KIF1BP Gene