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Aliases for KIAA1598 Gene

Aliases for KIAA1598 Gene

  • KIAA1598 2 3
  • Shootin1 3 6
  • Shootin-1 3

External Ids for KIAA1598 Gene

Summaries for KIAA1598 Gene

GeneCards Summary for KIAA1598 Gene

KIAA1598 (KIAA1598) is a Protein Coding gene. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include kinase binding.

UniProtKB/Swiss-Prot for KIAA1598 Gene

  • Involved in the generation of internal asymmetric signals required for neuronal polarization. Acts upstream of PI3K (phosphoinositide 3-kinase), by being required for spatially localized PI3K activity. Accumulates asymmetrically in a single neurite before polarization, leading to axon induction for polarization, its absence from the nascent axons siblings by competition preventing the formation of surplus axons (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1598 Gene

Genomics for KIAA1598 Gene

Genomic Location for KIAA1598 Gene

Start:
116,881,482 bp from pter
End:
117,126,586 bp from pter
Size:
245,105 bases
Orientation:
Minus strand

Genomic View for KIAA1598 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIAA1598 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1598 Gene

Regulatory Elements for KIAA1598 Gene

Proteins for KIAA1598 Gene

  • Protein details for KIAA1598 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0MZ66-SHOT1_HUMAN
    Recommended name:
    Shootin-1
    Protein Accession:
    A0MZ66
    Secondary Accessions:
    • A8MYU7
    • B3KRD3
    • B3KRH2
    • B3KTE0
    • B3KTJ7
    • B3KTJ8
    • B4E3U1
    • B7Z7Z9
    • Q68DG1
    • Q6PIM5
    • Q9HCH4
    • Q9NUV0

    Protein attributes for KIAA1598 Gene

    Size:
    631 amino acids
    Molecular mass:
    71640 Da
    Quaternary structure:
    • Interacts with RUFY3.
    SequenceCaution:
    • Sequence=AAH22348.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92019.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG53052.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG53110.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1598 Gene

neXtProt entry for KIAA1598 Gene

Proteomics data for KIAA1598 Gene at MOPED

Post-translational modifications for KIAA1598 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIAA1598 Gene

No data available for DME Specific Peptides for KIAA1598 Gene

Domains for KIAA1598 Gene

Protein Domains for KIAA1598 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SHOT1_HUMAN
Family:
  • Belongs to the shootin family.:
    • A0MZ66
genes like me logo Genes that share domains with KIAA1598: view

No data available for Gene Families for KIAA1598 Gene

Function for KIAA1598 Gene

Molecular function for KIAA1598 Gene

UniProtKB/Swiss-Prot Function: Involved in the generation of internal asymmetric signals required for neuronal polarization. Acts upstream of PI3K (phosphoinositide 3-kinase), by being required for spatially localized PI3K activity. Accumulates asymmetrically in a single neurite before polarization, leading to axon induction for polarization, its absence from the nascent axons siblings by competition preventing the formation of surplus axons (By similarity).

Gene Ontology (GO) - Molecular Function for KIAA1598 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding --
GO:0005515 protein binding IPI 25416956
GO:0019900 kinase binding IEA --
genes like me logo Genes that share ontologies with KIAA1598: view

Phenotypes for KIAA1598 Gene

GenomeRNAi human phenotypes for KIAA1598:
genes like me logo Genes that share phenotypes with KIAA1598: view

miRNA for KIAA1598 Gene

miRTarBase miRNAs that target KIAA1598

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIAA1598 Gene

Localization for KIAA1598 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA1598 Gene

Cell projection, axon.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA1598 Gene COMPARTMENTS Subcellular localization image for KIAA1598 gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KIAA1598 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044295 axonal growth cone IEA --
genes like me logo Genes that share ontologies with KIAA1598: view

Pathways for KIAA1598 Gene

genes like me logo Genes that share pathways with KIAA1598: view

Pathways by source for KIAA1598 Gene

1 Cell Signaling Technology pathway for KIAA1598 Gene

Gene Ontology (GO) - Biological Process for KIAA1598 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization --
GO:0007411 axon guidance TAS --
GO:2000114 regulation of establishment of cell polarity IEA --
GO:2001222 regulation of neuron migration IEA --
genes like me logo Genes that share ontologies with KIAA1598: view

Transcripts for KIAA1598 Gene

Unigene Clusters for KIAA1598 Gene

KIAA1598:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1598 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b
SP1:
SP2: - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: - -
SP7: - - -
SP8:
SP9:

Relevant External Links for KIAA1598 Gene

GeneLoc Exon Structure for
KIAA1598
ECgene alternative splicing isoforms for
KIAA1598

Expression for KIAA1598 Gene

mRNA expression in normal human tissues for KIAA1598 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIAA1598 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (6.9), Brain - Substantia nigra (5.2), Brain - Hippocampus (4.9), Brain - Amygdala (4.5), and Brain - Putamen (basal ganglia) (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA1598 Gene

SOURCE GeneReport for Unigene cluster for KIAA1598 Gene Hs.501140

genes like me logo Genes that share expressions with KIAA1598: view

Orthologs for KIAA1598 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIAA1598 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1598 36
  • 99.74 (n)
  • 99.84 (a)
KIAA1598 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1598 36
  • 90.59 (n)
  • 90.27 (a)
KIAA1598 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1598 36
  • 91 (n)
  • 90.83 (a)
KIAA1598 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4930506M07Rik 36
  • 87.9 (n)
  • 91.13 (a)
4930506M07Rik 16
4930506M07Rik 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1598 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1598 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311558 36
  • 87.37 (n)
  • 91.13 (a)
chicken
(Gallus gallus)
Aves KIAA1598 37
  • 62 (a)
OneToOne
LOC423919 36
  • 73.93 (n)
  • 73.56 (a)
lizard
(Anolis carolinensis)
Reptilia KIAA1598 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1598 36
  • 63 (n)
  • 64.09 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-56p18.4 36
  • 52.69 (n)
  • 44.76 (a)
si:ch73-56p18.4 37
  • 42 (a)
OneToOne
Species with no ortholog for KIAA1598:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 KIAA1598 Gene

ENSEMBL:
Gene Tree for KIAA1598 (if available)
TreeFam:
Gene Tree for KIAA1598 (if available)

Paralogs for KIAA1598 Gene

No data available for Paralogs for KIAA1598 Gene

Variants for KIAA1598 Gene

Sequence variations from dbSNP and Humsavar for KIAA1598 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs718371 -- 117,076,543(+) AAAAT(A/G)TGCAC intron-variant
rs718372 -- 117,076,569(+) TACCA(C/T)AATTC intron-variant
rs719012 -- 116,929,684(+) TATTC(C/T)ACTGA intron-variant
rs726445 -- 117,022,159(+) CGTGA(C/T)ACACC intron-variant
rs744937 -- 117,105,961(+) GTGAA(C/T)CATGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1598 Gene

Variant ID Type Subtype PubMed ID
esv2656460 CNV Deletion 23128226

Relevant External Links for KIAA1598 Gene

HapMap Linkage Disequilibrium report
KIAA1598

Disorders for KIAA1598 Gene

Relevant External Links for KIAA1598

Genetic Association Database (GAD)
KIAA1598
Human Genome Epidemiology (HuGE) Navigator
KIAA1598
genes like me logo Genes that share disorders with KIAA1598: view

No data available for UniProtKB/Swiss-Prot for KIAA1598 Gene

Publications for KIAA1598 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  2. Shootin1: a protein involved in the organization of an asymmetric signal for neuronal polarization. (PMID: 17030985) Toriyama M. … Inagaki N. (J. Cell Biol. 2006) 2 3 4
  3. Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. (PMID: 17903304) Larson M.G. … Levy D. (BMC Med. Genet. 2007) 3 49
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. (PMID: 20023658) Mangold E. … NAPthen M.M. (Nat. Genet. 2010) 3 49

Products for KIAA1598 Gene

Sources for KIAA1598 Gene

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