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Aliases for SHTN1 Gene

Aliases for SHTN1 Gene

  • Shootin 1 2 3 5
  • KIAA1598 2 3 4
  • Shootin1 3 4
  • Shootin-1 3

External Ids for SHTN1 Gene

Previous HGNC Symbols for SHTN1 Gene

  • KIAA1598

Summaries for SHTN1 Gene

GeneCards Summary for SHTN1 Gene

SHTN1 (Shootin 1) is a Protein Coding gene. Among its related pathways are Developmental Biology and Neuroscience. An important paralog of this gene is ENSG00000283266.

UniProtKB/Swiss-Prot for SHTN1 Gene

  • Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or clutch engagement within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Plays also a role in regenerative neurite outgrowth. In the developing cortex, cooperates with KIF20B to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in the accumulation of phosphatidylinositol 3,4,5-trisphosphate (PIP3) in the growth cone of primary hippocampal neurons.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHTN1 Gene

Genomics for SHTN1 Gene

Regulatory Elements for SHTN1 Gene

Enhancers for SHTN1 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
GH10F116952 0.2 Ensembl 54.2 +173.7 173668 1.0 SHTN1 ENSG00000283266 HSPA12A
GH10F116958 0.4 Ensembl 51.3 +167.9 167886 0.6 SHTN1 ENSG00000283266 HSPA12A
GH10F116996 0.4 ENCODE 50 +129.2 129245 1.1 PRDM1 MAFK ZNF18 SHTN1 ENO4 ENSG00000225302 ENSG00000235742 ENSG00000283266
GH10F116891 0.2 ENCODE 48.4 +235.1 235122 0.2 INSM2 SIN3A HIC1 ZNF366 SCRT2 PRDM10 GFI1B ZEB2 ZNF843 OSR2 SHTN1 ENO4 ENSG00000225302 HSPA12A ENSG00000283266
GH10F117003 0.9 Ensembl ENCODE 47.6 +120.7 120725 3.8 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS ZNF263 SHTN1 ENSG00000235742 ENSG00000283266
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SHTN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SHTN1 Gene

Chromosome:
10
Start:
116,881,482 bp from pter
End:
117,126,586 bp from pter
Size:
245,105 bases
Orientation:
Minus strand

Genomic View for SHTN1 Gene

Genes around SHTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHTN1 Gene

Proteins for SHTN1 Gene

  • Protein details for SHTN1 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 SHTN1 Gene

    Size:
    631 amino acids
    Molecular mass:
    71640 Da
    Quaternary structure:
    • Interacts with L1CAM; this interaction occurs in axonal growth cones. Interacts with actin filament retrograde flow; this interaction is enhanced in a netrin-1- and PAK1-dependent manner and promotes F-actin-substrate coupling and concomitant formation of traction forces at axonal growth cones. Interacts with RUFY3. Interacts with PFN2. Interacts (via N-terminus) with KIF20B; this interaction is direct and promotes the association of SHTN1 to microtubules in primary neurons. Associates with microtubule.
    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 SHTN1 Gene

neXtProt entry for SHTN1 Gene

Post-translational modifications for SHTN1 Gene

  • Phosphorylated on Ser-101 and Ser-249 by PAK1 through a CDC42- and RAC1-dependent signaling pathway, which enhances its association with F-actin retrograde flow in filopodia and lamellipodia of axonal growth cones. Phosphorylation on Ser-101 and Ser-249 is increased by netrin-1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SHTN1 Gene

Domains & Families for SHTN1 Gene

Protein Domains for SHTN1 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

A0MZ66

UniProtKB/Swiss-Prot:

SHOT1_HUMAN :
  • The N-terminus region is necessary for interaction with actin retrograde filament flow and accumulation in neuronal growth cones.
  • Belongs to the shootin family.
Domain:
  • The N-terminus region is necessary for interaction with actin retrograde filament flow and accumulation in neuronal growth cones.
Family:
  • Belongs to the shootin family.
genes like me logo Genes that share domains with SHTN1: view

No data available for Gene Families for SHTN1 Gene

Function for SHTN1 Gene

Molecular function for SHTN1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or clutch engagement within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Plays also a role in regenerative neurite outgrowth. In the developing cortex, cooperates with KIF20B to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in the accumulation of phosphatidylinositol 3,4,5-trisphosphate (PIP3) in the growth cone of primary hippocampal neurons.

Gene Ontology (GO) - Molecular Function for SHTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0051015 actin filament binding ISS --
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with SHTN1: view
genes like me logo Genes that share phenotypes with SHTN1: view

Animal Model Products

miRNA for SHTN1 Gene

miRTarBase miRNAs that target SHTN1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHTN1 Gene

Localization for SHTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHTN1 Gene

Perikaryon. Cell projection, axon. Cell projection, growth cone. Cytoplasm, cytoskeleton. Cell projection, filopodium. Cell projection, lamellipodium. Note=Localizes in multiple growth cones at neurite tips before the neuronal symmetry-breaking step. Accumulates in growth cones of a single nascent axon in a neurite length-dependent manner during the neuronal symmetry-breaking step; when absent from the nascent axons siblings, probably due to competitive transport, prevents the formation of surplus axons. Transported anterogradely from the soma to the axon growth cone in an actin and myosin-dependent manner and passively diffuses back to the cell bodies. Colocalized with L1CAM in close apposition with actin filaments in filopodia and lamellipodia of axonal growth cones in hippocampal neurons. Exhibits retrograde movements in filopodia and lamellopodia of axonal growth cones. Colocalized with KIF20B along microtubules to the tip of the growing cone in primary hippocampal neurons. Recruted to the growth cone of developing axon in a KIF20B- and microtubule-dependent manner. {ECO:0000250 UniProtKB:A0MZ67, ECO:0000250 UniProtKB:Q8K2Q9}.

Gene Ontology (GO) - Cellular Components for SHTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 25468996
GO:0005856 cytoskeleton IEA --
GO:0005875 microtubule associated complex ISS --
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0015630 microtubule cytoskeleton ISS --
genes like me logo Genes that share ontologies with SHTN1: view

No data available for Subcellular locations from COMPARTMENTS for SHTN1 Gene

Pathways & Interactions for SHTN1 Gene

genes like me logo Genes that share pathways with SHTN1: view

Pathways by source for SHTN1 Gene

1 Cell Signaling Technology pathway for SHTN1 Gene

Gene Ontology (GO) - Biological Process for SHTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006930 substrate-dependent cell migration, cell extension ISS --
GO:0007265 Ras protein signal transduction ISS --
GO:0007275 multicellular organism development IEA --
GO:0007409 axonogenesis ISS --
GO:0032488 Cdc42 protein signal transduction ISS --
genes like me logo Genes that share ontologies with SHTN1: view

No data available for SIGNOR curated interactions for SHTN1 Gene

Transcripts for SHTN1 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHTN1 Gene

No ASD Table

Relevant External Links for SHTN1 Gene

GeneLoc Exon Structure for
SHTN1
ECgene alternative splicing isoforms for
SHTN1

Expression for SHTN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of SHTN1 Gene:

SHTN1
genes like me logo Genes that share expression patterns with SHTN1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SHTN1 Gene

Orthologs for SHTN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SHTN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1598 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia KIAA1598 34 35
  • 91 (n)
cow
(Bos Taurus)
Mammalia KIAA1598 34 35
  • 90.59 (n)
mouse
(Mus musculus)
Mammalia 4930506M07Rik 35 34
  • 87.9 (n)
OneToOne
Shtn1 16
rat
(Rattus norvegicus)
Mammalia RGD1311558 34
  • 87.37 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1598 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1598 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC423919 34
  • 73.93 (n)
KIAA1598 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1598 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1598 34
  • 63 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-56p18.4 34 35
  • 52.69 (n)
Species where no ortholog for SHTN1 was found in the sources mined by GeneCards:
  • 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 SHTN1 Gene

ENSEMBL:
Gene Tree for SHTN1 (if available)
TreeFam:
Gene Tree for SHTN1 (if available)

Paralogs for SHTN1 Gene

Paralogs for SHTN1 Gene

genes like me logo Genes that share paralogs with SHTN1: view

Variants for SHTN1 Gene

Sequence variations from dbSNP and Humsavar for SHTN1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1003142 -- 116,991,331(-) caggt(A/T)ttcat intron-variant
rs1003143 -- 116,989,729(+) taaaa(C/T)gaagt intron-variant
rs10128516 -- 117,021,530(+) attca(C/T)aaaac intron-variant
rs10218905 -- 116,997,628(+) GTAAA(A/G)CGCCA intron-variant
rs10444104 -- 117,061,321(+) CCTCC(C/T)GAGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SHTN1 Gene

Variant ID Type Subtype PubMed ID
dgv106e201 CNV deletion 23290073
dgv107e201 CNV deletion 23290073
esv21650 CNV loss 19812545
esv2656460 CNV deletion 23128226
esv2670698 CNV deletion 23128226
esv2741317 CNV deletion 23290073
esv3624666 CNV loss 21293372
esv3624668 CNV loss 21293372
esv3624670 CNV loss 21293372
esv3624671 CNV gain 21293372
esv3624672 CNV gain 21293372
nsv1144518 CNV deletion 24896259
nsv552212 CNV loss 21841781
nsv552213 CNV loss 21841781
nsv7563 CNV insertion 18451855
nsv832002 CNV gain+loss 17160897
nsv951854 CNV duplication 24416366

Variation tolerance for SHTN1 Gene

Residual Variation Intolerance Score: 14.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.74; 57.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SHTN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHTN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHTN1 Gene

Disorders for SHTN1 Gene

Relevant External Links for SHTN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SHTN1

No disorders were found for SHTN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SHTN1 Gene

Publications for SHTN1 Gene

  1. 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 64
  2. 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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Identification of a shootin1 isoform expressed in peripheral tissues. (PMID: 27177867) Higashiguchi Y. … Inagaki N. (Cell Tissue Res. 2016) 3 64
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64

Products for SHTN1 Gene

Sources for SHTN1 Gene

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