Human Gene KIAA1598 (uc009xyw.4) Description and Page Index
  Description: Homo sapiens KIAA1598 (KIAA1598), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr10:118,642,888-118,765,088 Size: 122,201 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr10:118,645,855-118,764,590 Size: 118,736 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:118,642,888-118,765,088)mRNA (may differ from genome)Protein (631 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: SHOT1_HUMAN
DESCRIPTION: RecName: Full=Shootin-1;
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 axon's siblings by competition preventing the formation of surplus axons (By similarity).
SUBUNIT: Interacts with RUFY3 (By similarity).
SUBCELLULAR LOCATION: Cell projection, axon (By similarity).
SIMILARITY: Belongs to the shootin family.
SEQUENCE CAUTION: Sequence=AAH22348.1; Type=Erroneous initiation; Sequence=BAA92019.1; Type=Erroneous initiation; Sequence=BAG53052.1; Type=Erroneous initiation; Sequence=BAG53110.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KIAA1598
CDC HuGE Published Literature: KIAA1598
Positive Disease Associations: Cleft Lip , heart failure , nonsyndromic cleft lip with or without cleft palate
Related Studies:
  1. Cleft Lip
    Elisabeth Mangold et al. Nature genetics 2010, Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate., Nature genetics. [PubMed 20023658]
  2. heart failure
    Larson ,et al. 2007, Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes, BMC medical genetics 2007 8 Suppl 1 : S5. [PubMed 17903304]
  3. nonsyndromic cleft lip with or without cleft palate
    Mangold ,et al. 2009, Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate, Nature genetics 2010 42- 1 : 24-6. [PubMed 20023658]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 88.69 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 813.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -223.25498-0.448 Picture PostScript Text
3' UTR -774.322967-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024849 - Shootin-1

ModBase Predicted Comparative 3D Structure on A0MZ66
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019894 kinesin binding
GO:0045296 cadherin binding
GO:0051015 actin filament binding

Biological Process:
GO:0006930 substrate-dependent cell migration, cell extension
GO:0007265 Ras protein signal transduction
GO:0007275 multicellular organism development
GO:0007409 axonogenesis
GO:0032488 Cdc42 protein signal transduction
GO:0038007 netrin-activated signaling pathway
GO:0045773 positive regulation of axon extension
GO:0048812 neuron projection morphogenesis
GO:0060327 cytoplasmic actin-based contraction involved in cell motility
GO:0061163 endoplasmic reticulum polarization
GO:0061573 actin filament bundle retrograde transport
GO:2000114 regulation of establishment of cell polarity
GO:2001222 regulation of neuron migration
GO:2001224 positive regulation of neuron migration

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0015630 microtubule cytoskeleton
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0030424 axon
GO:0030426 growth cone
GO:0031252 cell leading edge
GO:0042995 cell projection
GO:0043204 perikaryon
GO:0044295 axonal growth cone
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  CR749417 - Homo sapiens mRNA; cDNA DKFZp686A0439 (from clone DKFZp686A0439).
BX648065 - Homo sapiens mRNA; cDNA DKFZp686K12203 (from clone DKFZp686K12203).
AB046818 - Homo sapiens mRNA for KIAA1598 protein, partial cds.
AK095703 - Homo sapiens cDNA FLJ38384 fis, clone FEBRA2003733.
AK091381 - Homo sapiens cDNA FLJ34062 fis, clone FCBBF3000473.
AX746947 - Sequence 472 from Patent EP1308459.
AK304865 - Homo sapiens cDNA FLJ58469 complete cds, highly similar to Mus musculus myosin, heavy polypeptide 9, non-muscle (Myh9), transcript variant 1, mRNA.
AB384620 - Synthetic construct DNA, clone: pF1KA1598, Homo sapiens KIAA1598 gene for shootin1, complete cds, without stop codon, in Flexi system.
AK302705 - Homo sapiens cDNA FLJ58712 complete cds, highly similar to Mus musculus myosin, heavy polypeptide 9, non-muscle (Myh9), transcript variant 1, mRNA.
BC032303 - Homo sapiens KIAA1598, mRNA (cDNA clone MGC:40476 IMAGE:5169981), complete cds.
KJ903001 - Synthetic construct Homo sapiens clone ccsbBroadEn_12395 KIAA1598 gene, encodes complete protein.
EF055487 - Homo sapiens shootin 1a mRNA, complete cds.
CU689320 - Synthetic construct Homo sapiens gateway clone IMAGE:100022697 5' read KIAA1598 mRNA.
BX537593 - Homo sapiens mRNA; cDNA DKFZp686I2078 (from clone DKFZp686I2078).
AK001984 - Homo sapiens cDNA FLJ11122 fis, clone PLACE1006159.
AK095709 - Homo sapiens cDNA FLJ38390 fis, clone FEBRA2005995, highly similar to Homo sapiens zinc finger homeodomain 4 (ZFHX4), mRNA.
AK091578 - Homo sapiens cDNA FLJ34259 fis, clone FEBRA2000504, highly similar to Mus musculus myosin, heavy polypeptide 9, non-muscle (Myh9), transcript variant 1, mRNA.
AX747071 - Sequence 596 from Patent EP1308459.
BC022348 - Homo sapiens KIAA1598, mRNA (cDNA clone IMAGE:4251340), complete cds.
AL157479 - Homo sapiens mRNA; cDNA DKFZp761H082 (from clone DKFZp761H082).
AK091410 - Homo sapiens cDNA FLJ34091 fis, clone FCBBF3006513.
AK095419 - Homo sapiens cDNA FLJ38100 fis, clone D3OST1000267.
JD201382 - Sequence 182406 from Patent EP1572962.
JD233263 - Sequence 214287 from Patent EP1572962.
JD530919 - Sequence 511943 from Patent EP1572962.
JD557798 - Sequence 538822 from Patent EP1572962.
JD036716 - Sequence 17740 from Patent EP1572962.
JD508828 - Sequence 489852 from Patent EP1572962.
AK092331 - Homo sapiens cDNA FLJ35012 fis, clone OCBBF2013481.
JD484262 - Sequence 465286 from Patent EP1572962.
JD244879 - Sequence 225903 from Patent EP1572962.
JD224778 - Sequence 205802 from Patent EP1572962.
JD562541 - Sequence 543565 from Patent EP1572962.
JD181691 - Sequence 162715 from Patent EP1572962.
JD287620 - Sequence 268644 from Patent EP1572962.
JD238993 - Sequence 220017 from Patent EP1572962.
JD473282 - Sequence 454306 from Patent EP1572962.
JD318987 - Sequence 300011 from Patent EP1572962.
JD060259 - Sequence 41283 from Patent EP1572962.
KJ903000 - Synthetic construct Homo sapiens clone ccsbBroadEn_12394 KIAA1598 gene, encodes complete protein.
AK124745 - Homo sapiens cDNA FLJ42755 fis, clone BRAWH3001475.
JD303866 - Sequence 284890 from Patent EP1572962.
JD402942 - Sequence 383966 from Patent EP1572962.
JD483753 - Sequence 464777 from Patent EP1572962.
JD332780 - Sequence 313804 from Patent EP1572962.
JD176066 - Sequence 157090 from Patent EP1572962.
JD436028 - Sequence 417052 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein A0MZ66 (Reactome details) participates in the following event(s):

R-HSA-373736 Shootin-1 links L1 and retrograde actin flow
R-HSA-437239 Recycling pathway of L1
R-HSA-373760 L1CAM interactions
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A0MZ66, A8MYU7, B3KRD3, B3KRH2, B3KTE0, B3KTJ7, B3KTJ8, B4E3U1, NM_001127211, NP_001245227, Q68DG1, Q6PIM5, Q9HCH4, Q9NUV0, SHOT1_HUMAN, uc009xyw.3
UCSC ID: uc009xyw.4
RefSeq Accession: NM_001127211
Protein: A0MZ66 (aka SHOT1_HUMAN)
CCDS: CCDS44482.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001127211.2
exon count: 17CDS single in 3' UTR: no RNA size: 5361
ORF size: 1896CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3857.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 2997# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.