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Aliases for KIAA0556 Gene

Aliases for KIAA0556 Gene

  • KIAA0556 2 3
  • Katanin-Interacting Protein 3
  • JBTS26 3
  • Katnip 3

External Ids for KIAA0556 Gene

Previous GeneCards Identifiers for KIAA0556 Gene

  • GC16P027058
  • GC16P027728
  • GC16P027556
  • GC16P027595
  • GC16P025649

Summaries for KIAA0556 Gene

Entrez Gene Summary for KIAA0556 Gene

  • This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]

GeneCards Summary for KIAA0556 Gene

KIAA0556 (KIAA0556) is a Protein Coding gene. Diseases associated with KIAA0556 include Joubert Syndrome 1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0556 Gene

Genomics for KIAA0556 Gene

Regulatory Elements for KIAA0556 Gene

Enhancers for KIAA0556 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 KIAA0556 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA0556 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIAA0556 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIAA0556 Gene

27,550,119 bp from pter
27,780,371 bp from pter
230,253 bases
Plus strand

Genomic View for KIAA0556 Gene

Genes around KIAA0556 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0556 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0556 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0556 Gene

Proteins for KIAA0556 Gene

  • Protein details for KIAA0556 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein KIAA0556
    Protein Accession:
    Secondary Accessions:
    • A7E2C2

    Protein attributes for KIAA0556 Gene

    1618 amino acids
    Molecular mass:
    180918 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA25482.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KIAA0556 Gene

Proteomics data for KIAA0556 Gene at MOPED

Post-translational modifications for KIAA0556 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIAA0556 Gene

No data available for DME Specific Peptides for KIAA0556 Gene

Domains & Families for KIAA0556 Gene

Protein Domains for KIAA0556 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA0556: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KIAA0556 Gene

Function for KIAA0556 Gene

genes like me logo Genes that share phenotypes with KIAA0556: view

Animal Model Products

CRISPR Products

miRNA for KIAA0556 Gene

miRTarBase miRNAs that target KIAA0556

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0556 Gene

Localization for KIAA0556 Gene

Subcellular locations from

Jensen Localization Image for KIAA0556 Gene COMPARTMENTS Subcellular localization image for KIAA0556 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 2

Gene Ontology (GO) - Cellular Components for KIAA0556 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with KIAA0556: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KIAA0556 Gene

Pathways & Interactions for KIAA0556 Gene

SuperPathways for KIAA0556 Gene

No Data Available

Interacting Proteins for KIAA0556 Gene

Gene Ontology (GO) - Biological Process for KIAA0556 Gene


No data available for Pathways by source and SIGNOR curated interactions for KIAA0556 Gene

Drugs & Compounds for KIAA0556 Gene

No Compound Related Data Available

Transcripts for KIAA0556 Gene

Unigene Clusters for KIAA0556 Gene

Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0556 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - -
SP3: - -
SP4: - - -
SP5: -
SP6: - -

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30

Relevant External Links for KIAA0556 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIAA0556 Gene

mRNA expression in normal human tissues for KIAA0556 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIAA0556 Gene

This gene is overexpressed in Bone (48.4) and Heart (18.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA0556 Gene

SOURCE GeneReport for Unigene cluster for KIAA0556 Gene Hs.460459

genes like me logo Genes that share expression patterns with KIAA0556: view

Protein tissue co-expression partners for KIAA0556 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KIAA0556 Gene

Orthologs for KIAA0556 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0556 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia KIAA0556 35
  • 83.72 (n)
  • 79.39 (a)
KIAA0556 36
  • 78 (a)
(Mus musculus)
Mammalia D430042O09Rik 35
  • 78.63 (n)
  • 73.52 (a)
D430042O09Rik 16
D430042O09Rik 36
  • 73 (a)
(Pan troglodytes)
Mammalia KIAA0556 35
  • 99.16 (n)
  • 98.83 (a)
KIAA0556 36
  • 99 (a)
(Rattus norvegicus)
Mammalia LOC361646 35
  • 78.37 (n)
  • 73.57 (a)
(Bos Taurus)
Mammalia KIAA0556 36
  • 79 (a)
(Monodelphis domestica)
Mammalia KIAA0556 36
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia KIAA0556 36
  • 64 (a)
(Gallus gallus)
Aves KIAA0556 35
  • 60.79 (n)
  • 55.5 (a)
KIAA0556 36
  • 53 (a)
(Anolis carolinensis)
Reptilia KIAA0556 36
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0556 35
  • 55.5 (n)
  • 51.86 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29814 35
(Danio rerio)
Actinopterygii Dr.16016 35
LOC557457 35
  • 53.89 (n)
  • 50.75 (a)
si:dkey-161j23.5 36
  • 33 (a)
si:dkey-161j23.6 36
  • 46 (a)
si:dkey-161j23.7 36
  • 67 (a)
(Caenorhabditis elegans)
Secernentea K04F10.2 37
  • 32 (a)
K04F10.2 35
  • 45.66 (n)
  • 36.79 (a)
K04F10.2 36
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
Species with no ortholog for KIAA0556:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for KIAA0556 Gene

Gene Tree for KIAA0556 (if available)
Gene Tree for KIAA0556 (if available)

Paralogs for KIAA0556 Gene

No data available for Paralogs for KIAA0556 Gene

Variants for KIAA0556 Gene

Sequence variations from dbSNP and Humsavar for KIAA0556 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_037654 -
VAR_037655 -
VAR_037656 -
rs4787984 - 27,761,580(+) CCCGG(A/G)CCCTG downstream-variant-500B, reference, missense
rs11644502 - 27,769,988(+) CCTAC(A/G)GGCTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KIAA0556 Gene

Variant ID Type Subtype PubMed ID
esv2751555 CNV Gain 17911159
nsv1774 CNV Insertion 18451855
esv1205043 CNV Insertion 17803354
esv1009779 CNV Insertion 20482838

Variation tolerance for KIAA0556 Gene

Residual Variation Intolerance Score: 77.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.88; 79.47% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KIAA0556 Gene

Disorders for KIAA0556 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIAA0556 Gene - From: ClinVar, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIAA0556

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KIAA0556: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA0556 Gene

Publications for KIAA0556 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 67
  2. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. (PMID: 26714646) Sanders A.A. … Blacque O.E. (Genome Biol. 2015) 2 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
  5. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. (PMID: 22664934) BAPhm D. … Grus F.H. (Oncol. Rep. 2012) 3

Products for KIAA0556 Gene

Sources for KIAA0556 Gene