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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
  • Mutant KIF1 Binding Protein 3
  • KIF1-Binding Protein 3
  • 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G068988 1.1 ENCODE 57.6 +0.5 536 2.3 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 KIF1BP MED28P1
GH10G068991 0.9 Ensembl ENCODE 57.4 +4.1 4134 2.1 ZNF263 PKNOX1 GFI1B INSM2 FOS NR3C1 REST WT1 ZBTB20 KIF1BP SRGN DDX21 VPS26A HKDC1 MED28P1 ACTBP14
GH10G069064 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.4 +76.7 76680 2.8 TBP PKNOX1 TBL1XR1 WRNIP1 EGR1 ZSCAN5C FOS RELB ETV6 IKZF2 KIF1BP SRGN MED28P1 LOC101928994 HK1 VPS26A GC10P069071 GC10P069047
GH10G069043 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +60.7 60685 11.5 HDGF ATF1 FOXA2 PKNOX1 WRNIP1 ZFP64 SIN3A YBX1 GATA2 ELK1 SRGN VPS26A KIF1BP HKDC1 DDX21 HK1 GC10P069047 GC10P069071
GH10G069059 2 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +72.8 72756 3.7 PKNOX1 SIN3A ZNF766 FOS TBX21 ZNF592 KAT8 SMARCA4 NBN NR2C1 CCAR1 SRGN DDX50 SUPV3L1 KIF1BP TET1 VPS26A DDX21 GC10P069047 GC10P069071
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000029182 279 1601 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for KIF1BP Gene

Chromosome:
10
Start:
68,988,721 bp from pter
End:
69,043,544 bp from pter
Size:
54,824 bases
Orientation:
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:
    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

Post-translational modifications for KIF1BP Gene

  • Ubiquitination at isoforms=547 and isoforms=564
  • Modification sites at PhosphoSitePlus

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

Q96EK5

UniProtKB/Swiss-Prot:

KBP_HUMAN :
  • Belongs to the KIF1-binding protein family.
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.

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
GenomeRNAi human phenotypes for KIF1BP:
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

CRISPR Products

miRNA for KIF1BP Gene

miRTarBase miRNAs that target KIF1BP

Inhibitory RNA Products

Clone Products

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

Localization for KIF1BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF1BP Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIF1BP gene
Compartment Confidence
mitochondrion 5
cytoskeleton 4
nucleus 2
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KIF1BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 16225668
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with KIF1BP: view

Pathways & Interactions 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:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with KIF1BP: view

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP1: - -
SP2: -
SP3:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KIF1BP Gene



Protein tissue co-expression partners for KIF1BP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIF1BP Gene:

KIF1BP

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.

Evidence on tissue expression from TISSUES for KIF1BP Gene

  • Nervous system(4.9)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF1BP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • breast
Abdomen:
  • intestine
  • large intestine
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with KIF1BP: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia KIAA1279 34 35
  • 99.79 (n)
cow
(Bos Taurus)
Mammalia KBP 35
  • 95 (a)
OneToOne
KIAA1279 34
  • 92 (n)
dog
(Canis familiaris)
Mammalia KIAA1279 34 35
  • 92.91 (n)
mouse
(Mus musculus)
Mammalia 2510003E04Rik 34 35
  • 85.58 (n)
Kif1bp 16
rat
(Rattus norvegicus)
Mammalia LOC606294 34
  • 85.41 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1279 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1279 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1279 34
  • 72.8 (n)
KBP 35
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1279 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1279 34
  • 64.85 (n)
Str.4332 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16863 34
zebrafish
(Danio rerio)
Actinopterygii kbp 34 35
  • 60.04 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8993 34
fruit fly
(Drosophila melanogaster)
Insecta CG14043 34 35
  • 46.71 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009536 34
  • 45.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
-- 35
  • 38 (a)
OneToMany
Species where no ortholog for KIF1BP was found in the sources mined by GeneCards:
  • 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
rs121434514 Pathogenic 68,989,100(+) CCCAG(C/T)GAGCG reference, stop-gained
rs121434515 Pathogenic 68,989,082(+) AGCCC(G/T)AGGGG reference, stop-gained
rs730882150 Pathogenic 69,005,119(+) GAGAT(A/C)AAAAA upstream-variant-2KB, reference, stop-gained
rs730882151 Pathogenic 69,005,124(+) CAAAA(-/AG)GTGAG upstream-variant-2KB, reference, frameshift-variant
rs148768851 Likely benign 68,988,900(+) GGTGG(A/G)ACTGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KIF1BP Gene

Variant ID Type Subtype PubMed ID
esv1000949 CNV insertion 20482838
esv3578968 CNV loss 25503493
esv3623732 CNV loss 21293372
nsv474578 CNV novel sequence insertion 20440878
nsv519999 CNV loss 19592680
nsv831907 CNV gain 17160897

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)

Relevant External Links for KIF1BP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF1BP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
megacolon
  • dilatation of colon
miller-dieker lissencephaly syndrome
  • mds
hirschsprung disease 1
  • hirschsprung's disease
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for KIF1BP

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

No data available for Genatlas for KIF1BP Gene

Publications for KIF1BP Gene

  1. 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 64
  2. 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 64
  3. KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. (PMID: 23427148) Drevillon L. … Giurgea I. (Hum. Mol. Genet. 2013) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  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 64

Products for KIF1BP Gene

Sources for KIF1BP Gene

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