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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 Syndrome and Shprintzen-Goldberg Craniosynostosis Syndrome. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for KIF1BP Gene

Promoters and enhancers for KIF1BP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J068988 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 707.6 +0.5 536 2.3 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 KIF1BP MED28P1 DDX50 HNRNPH3 HERC4 CCAR1 RPL26P27
GH10J068991 Enhancer 0.7 Ensembl ENCODE 57.4 +4.1 4133 2.1 PKNOX1 GFI1B INSM2 FOS WT1 ZBTB20 ZBTB17 MED28P1 KIF1BP SRGN DDX21 VPS26A HKDC1 ACTBP14
GH10J068954 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 16.6 -32.2 -32212 3.8 MLX DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC DDX21 DDX50 CCAR1 HERC4 HNRNPH3 KIF1BP RPL26P27 VPS26A STOX1 GC10P068966
GH10J068720 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.7 -267.1 -267083 2.9 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 CCAR1 DDX50 STOX1 SIRT1 KIF1BP HNRNPH3 HERC4 RPL12P8 RPL26P27 ENSG00000195401
GH10J069064 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.4 +76.7 76679 2.8 CTCF PKNOX1 ZBTB6 PYGO2 STAT5A EBF1 BATF RELA FOSL1 POLR2A KIF1BP SRGN MED28P1 LOC101928994 HK1 VPS26A GC10P069071 GC10P069047
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF1BP on UCSC Golden Path with GeneCards custom track

Genomic Locations for KIF1BP Gene

Genomic Locations for KIF1BP Gene
chr10:68,988,721-69,043,544
(GRCh38/hg38)
Size:
54,824 bases
Orientation:
Plus strand
chr10:70,748,477-70,776,739
(GRCh37/hg19)
Size:
28,263 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 Lys564 and Lys547
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIF1BP Gene

Domains & Families for KIF1BP Gene

Gene Families for KIF1BP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for KIF1BP Gene

InterPro:
ProtoNet:

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.

Phenotypes From GWAS Catalog for KIF1BP Gene

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
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:
  • Kif1bp Kif1bp<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF1BP

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIF1BP Gene

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

mRNA/cDNA for KIF1BP Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF1BP

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, 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
Regions:
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

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 33
  • 99.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KBP 34
  • 95 (a)
OneToOne
KIAA1279 33
  • 92 (n)
dog
(Canis familiaris)
Mammalia KIAA1279 34 33
  • 92.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia 2510003E04Rik 34 33
  • 85.58 (n)
OneToOne
Kif1bp 16
rat
(Rattus norvegicus)
Mammalia LOC606294 33
  • 85.41 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1279 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1279 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1279 33
  • 72.8 (n)
KBP 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1279 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1279 33
  • 64.85 (n)
Str.4332 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16863 33
zebrafish
(Danio rerio)
Actinopterygii kbp 34 33
  • 60.04 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8993 33
fruit fly
(Drosophila melanogaster)
Insecta CG14043 34 33
  • 46.71 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009536 33
  • 45.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToMany
-- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KIF1BP: view image

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 Variation AA Info Type
rs121434514 pathogenic, Shprintzen-Goldberg syndrome 68,989,100(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained
rs121434515 pathogenic, Shprintzen-Goldberg syndrome 68,989,082(+) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, stop_gained
rs144067344 uncertain-significance, Goldberg-Shprintzen megacolon syndrome 68,988,910(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs730882150 pathogenic, Shprintzen-Goldberg syndrome, Goldberg-Shprintzen megacolon syndrome 69,005,119(+) C/A coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant
rs730882151 pathogenic, Shprintzen-Goldberg syndrome 69,005,124(+) AG/ coding_sequence_variant, frameshift, genic_upstream_transcript_variant, upstream_transcript_variant

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)

Additional Variant Information for KIF1BP Gene

Human Gene Mutation Database (HGMD)
KIF1BP
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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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. The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein. (PMID: 16225668) Wozniak MJ … Lammers R (BMC cell biology 2005) 2 3 4 58
  2. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. (PMID: 15883926) Brooks AS … Hofstra RM (American journal of human genetics 2005) 2 3 4 58
  3. KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. (PMID: 23427148) Drévillon L … Giurgea I (Human molecular genetics 2013) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for KIF1BP Gene

Sources for KIF1BP Gene

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