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] See more...

Aliases for KIFBP Gene

Aliases for KIFBP Gene

  • Kinesin Family Binding Protein 2 3 4 5
  • KIAA1279 2 3 4
  • KBP 2 3 4
  • Kinesin Binding Protein 2 3
  • KIF1 Binding Protein 2 3
  • KIF-Binding Protein 3 4
  • KIF1BP 3 4
  • TTC20 2 3
  • Mutant KIF1 Binding Protein 3
  • KIF1-Binding Protein 4
  • DKFZP586B0923 2
  • KIFBP 5

External Ids for KIFBP Gene

Previous HGNC Symbols for KIFBP Gene

  • KIAA1279
  • KIF1BP

Summaries for KIFBP Gene

Entrez Gene Summary for KIFBP 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 KIFBP Gene

KIFBP (Kinesin Family Binding Protein) is a Protein Coding gene. Diseases associated with KIFBP include Goldberg-Shprintzen Syndrome and Shprintzen-Goldberg Craniosynostosis Syndrome.

UniProtKB/Swiss-Prot Summary for KIFBP Gene

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

Gene Wiki entry for KIFBP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIFBP Gene

Genomics for KIFBP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIFBP 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 EPDnew Ensembl ENCODE CraniofacialAtlas 307.5 +0.5 498 2.6 BCLAF1 SP1 ZNF207 MYC ZNF600 IKZF1 ZNF580 POLR2A CEBPA NFIC KIFBP HSALNG0078554 MED28P1 CCAR1 HNRNPH3 HERC4 DDX50 RPL26P27 SRGN
GH10J069004 Enhancer 0.8 Ensembl ENCODE 57 +18.5 18498 5.4 ZNF654 CTCF REST TRIM22 RAD21 SMC3 ZNF24 RB1 E2F7 CEBPB HSALNG0078555 KIFBP STOX1 SRGN VPS26A DDX21 RF00017-611
GH10J068998 Enhancer 0.8 Ensembl ENCODE 54.2 +8.7 8698 1.4 BCLAF1 ZNF146 SPI1 HDGF ATF2 JUNB PKNOX1 ARID3A TARDBP TBL1XR1 RF00017-611 KIFBP VPS26A SRGN HKDC1 HSALNG0078555
GH10J068954 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.6 -32.2 -32207 4 ZNF207 NCOR1 ZNF654 MYC ZNF600 JUND ZNF580 ZNF592 ATF2 KLF9 DDX21 NONHSAG006092.2 lnc-SLC25A16-6 CCAR1 DDX50 HNRNPH3 HERC4 KIFBP RPL26P27 VPS26A
GH10J068720 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 17.7 -267.2 -267202 3.2 ZNF600 MYC IKZF1 ZNF580 ZNF592 ATF2 POLR2A ZNF10 ZIC2 ZBTB10 CCAR1 DDX50 STOX1 SIRT1 KIFBP HNRNPH3 HERC4 RPL12P8 RPL26P27 lnc-TET1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIFBP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIFBP

Genomic Locations for KIFBP Gene

Latest Assembly
chr10:68,988,803-69,043,544
(GRCh38/hg38)
Size:
54,742 bases
Orientation:
Plus strand

Previous Assembly
chr10:70,748,559-70,776,738
(GRCh37/hg19 by Entrez Gene)
Size:
28,180 bases
Orientation:
Plus strand

chr10:70,748,487-70,776,738
(GRCh37/hg19 by Ensembl)
Size:
28,252 bases
Orientation:
Plus strand

Genomic View for KIFBP Gene

Genes around KIFBP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for KIFBP Gene

Proteins for KIFBP Gene

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

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

    Protein attributes for KIFBP Gene

    Size:
    621 amino acids
    Molecular mass:
    71814 Da
    Quaternary structure:
    • Interacts with KIF1B (PubMed:16225668). Interacts with STMN2 (PubMed:20621975).
    SequenceCaution:
    • Sequence=BAA86593.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KIFBP Gene

Post-translational modifications for KIFBP Gene

  • Ubiquitination at Lys547 and Lys564
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIFBP Gene

Domains & Families for KIFBP Gene

Gene Families for KIFBP Gene

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

Protein Domains for KIFBP Gene

Suggested Antigen Peptide Sequences for KIFBP Gene

GenScript: Design optimal peptide antigens:
  • KIF1-binding protein (KBP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96EK5

UniProtKB/Swiss-Prot:

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

Function for KIFBP Gene

Molecular function for KIFBP 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 KIFBP Gene

Gene Ontology (GO) - Molecular Function for KIFBP Gene

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

Human Phenotype Ontology for KIFBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIFBP Gene

MGI Knock Outs for KIFBP:
  • Kifbp Kifbp<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

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

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

Localization for KIFBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIFBP 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 KIFBP gene
Compartment Confidence
mitochondrion 5
cytoskeleton 4
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
lysosome 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for KIFBP 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 KIFBP: view

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

Pathways & Interactions for KIFBP Gene

PathCards logo

SuperPathways for KIFBP Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIFBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
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 KIFBP: view

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

Drugs & Compounds for KIFBP Gene

No Compound Related Data Available

Transcripts for KIFBP Gene

mRNA/cDNA for KIFBP Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for KIFBP Gene

GeneLoc Exon Structure for
KIFBP

Expression for KIFBP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIFBP

mRNA Expression by UniProt/SwissProt for KIFBP 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 KIFBP Gene

  • Nervous system(4.9)
  • Lung(4.2)
  • Heart(2.2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIFBP 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 KIFBP: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KIFBP Gene

Orthologs for KIFBP Gene

This gene was present in the common ancestor of animals.

Orthologs for KIFBP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA1279 29 30
  • 99.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KBP 30
  • 95 (a)
OneToOne
KIAA1279 29
  • 92 (n)
Dog
(Canis familiaris)
Mammalia KIAA1279 29 30
  • 92.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia 2510003E04Rik 29 30
  • 85.58 (n)
OneToOne
Kifbp 16
Rat
(Rattus norvegicus)
Mammalia LOC606294 29
  • 85.41 (n)
Oppossum
(Monodelphis domestica)
Mammalia KIAA1279 30
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1279 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA1279 29
  • 72.8 (n)
KBP 30
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA1279 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa1279 29
  • 64.85 (n)
Str.4332 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.16863 29
Zebrafish
(Danio rerio)
Actinopterygii kbp 29 30
  • 60.04 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8993 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG14043 29 30
  • 46.71 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009536 29
  • 45.09 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 48 (a)
OneToMany
-- 30
  • 38 (a)
OneToMany
Species where no ortholog for KIFBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 KIFBP Gene

ENSEMBL:
Gene Tree for KIFBP (if available)
TreeFam:
Gene Tree for KIFBP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIFBP: view image
Alliance of Genome Resources:
Additional Orthologs for KIFBP

Paralogs for KIFBP Gene

No data available for Paralogs for KIFBP Gene

Variants for KIFBP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIFBP Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
877690 Uncertain Significance: Goldberg-Shprintzen megacolon syndrome 68,988,892(+) G/C
NM_015634.4(KIFBP):c.60G>C (p.Ser20=)
SYNONYMOUS
877691 Uncertain Significance: Goldberg-Shprintzen megacolon syndrome 68,988,898(+) G/A
NM_015634.4(KIFBP):c.66G>A (p.Val22=)
SYNONYMOUS
877722 Uncertain Significance: Goldberg-Shprintzen megacolon syndrome 69,016,318(+) G/A
NM_015634.4(KIFBP):c.1768G>A (p.Ala590Thr)
MISSENSE
877723 Uncertain Significance: Goldberg-Shprintzen megacolon syndrome 69,016,398(+) C/A
NM_015634.4(KIFBP):c.1848C>A (p.Thr616=)
SYNONYMOUS
877724 Uncertain Significance: Goldberg-Shprintzen megacolon syndrome 69,016,436(+) G/A
NM_015634.4(KIFBP):c.*20G>A
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KIFBP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIFBP
Leiden Open Variation Database (LOVD)
KIFBP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIFBP Gene

Disorders for KIFBP Gene

MalaCards: The human disease database

(11) MalaCards diseases for KIFBP Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KIFBP in MalaCards View complete list of genes associated with diseases

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 variants affecting the gene represented in this entry.

Additional Disease Information for KIFBP

genes like me logo Genes that share disorders with KIFBP: view

No data available for Genatlas for KIFBP Gene

Publications for KIFBP Gene

  1. 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 72
  2. KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. (PMID: 23427148) Drévillon L … Giurgea I (Human molecular genetics 2013) 3 4 72
  3. 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
  4. Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. (PMID: 28277559) Salehpour S … Miryounesi M (Iranian journal of child neurology 2017) 3 72
  5. Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. (PMID: 24072599) Valence S … Bahi-Buisson N (Neurogenetics 2013) 3 72

Products for KIFBP Gene

Sources for KIFBP Gene