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Aliases for KIAA1217 Gene

Aliases for KIAA1217 Gene

  • KIAA1217 2 3
  • SKT 3 4
  • Likely Orthologue Of Mus Musculus Enhancer Trap Locus 4 3
  • Sickle Tail 2

External Ids for KIAA1217 Gene

Previous GeneCards Identifiers for KIAA1217 Gene

  • GC10P024502
  • GC10P024512
  • GC10P024538
  • GC10P024023

Summaries for KIAA1217 Gene

GeneCards Summary for KIAA1217 Gene

KIAA1217 (KIAA1217) is a Protein Coding gene. Diseases associated with KIAA1217 include adjustment disorder. An important paralog of this gene is SRCIN1.

UniProtKB/Swiss-Prot for KIAA1217 Gene

  • Required for normal development of intervertebral disks.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1217 Gene

Genomics for KIAA1217 Gene

Regulatory Elements for KIAA1217 Gene

Genomic Location for KIAA1217 Gene

Chromosome:
10
Start:
23,694,746 bp from pter
End:
24,547,848 bp from pter
Size:
853,103 bases
Orientation:
Plus strand

Genomic View for KIAA1217 Gene

Genes around KIAA1217 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1217 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1217 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1217 Gene

Proteins for KIAA1217 Gene

  • Protein details for KIAA1217 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T5P2-SKT_HUMAN
    Recommended name:
    Sickle tail protein homolog
    Protein Accession:
    Q5T5P2
    Secondary Accessions:
    • A5LHW9
    • A6NLF3
    • A6PVQ5
    • A6PVQ6
    • A6PVQ7
    • B9EGK4
    • Q4KMG4
    • Q5T5P3
    • Q5T7H3
    • Q6MZZ6
    • Q6ZUI4
    • Q8WV45
    • Q9NSR2
    • Q9ULK3

    Protein attributes for KIAA1217 Gene

    Size:
    1943 amino acids
    Molecular mass:
    214116 Da
    Quaternary structure:
    • Interacts with CPNE4 (via VWFA domain).
    SequenceCaution:
    • Sequence=AAH18764.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AL833280; Type=Frameshift; Positions=976; Evidence={ECO:0000305}; Sequence=BAC86241.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAF63529.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAE45879.1; Type=Erroneous termination; Positions=1251; Note=Translated as Leu.; Evidence={ECO:0000305}; Sequence=CAI12212.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14084.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40182.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1217 Gene

neXtProt entry for KIAA1217 Gene

Proteomics data for KIAA1217 Gene at MOPED

Post-translational modifications for KIAA1217 Gene

  • Glycosylation at Ser 357
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA1217 Gene

Domains & Families for KIAA1217 Gene

Protein Domains for KIAA1217 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA1217 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA1217: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KIAA1217 Gene

Function for KIAA1217 Gene

Molecular function for KIAA1217 Gene

GENATLAS Biochemistry:
murine PI40 homolog
UniProtKB/Swiss-Prot Function:
Required for normal development of intervertebral disks.

Gene Ontology (GO) - Molecular Function for KIAA1217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with KIAA1217: view
genes like me logo Genes that share phenotypes with KIAA1217: view

Animal Model Products

CRISPR Products

miRNA for KIAA1217 Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA1217 Gene

Localization for KIAA1217 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA1217 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA1217 Gene COMPARTMENTS Subcellular localization image for KIAA1217 gene
Compartment Confidence
cytosol 3
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for KIAA1217 Gene

Pathways & Interactions for KIAA1217 Gene

SuperPathways for KIAA1217 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA1217 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA1217 Gene

Drugs & Compounds for KIAA1217 Gene

No Compound Related Data Available

Transcripts for KIAA1217 Gene

Unigene Clusters for KIAA1217 Gene

KIAA1217:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1217 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - - -
SP5: - -
SP6: - -
SP7: - - - - - - - -
SP8: - - - - - -
SP9: - -
SP10: -
SP11: - -
SP12:

ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25
SP1: - - -
SP2: - - - - - - -
SP3: -
SP4: - - -
SP5: - - - -
SP6: - - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for KIAA1217 Gene

GeneLoc Exon Structure for
KIAA1217
ECgene alternative splicing isoforms for
KIAA1217

Expression for KIAA1217 Gene

mRNA expression in normal human tissues for KIAA1217 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIAA1217 Gene

This gene is overexpressed in Muscle - Skeletal (x7.5).

Protein differential expression in normal tissues from HIPED for KIAA1217 Gene

This gene is overexpressed in Testis (10.7), Plasma (10.0), Adrenal (9.2), and Pancreas (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA1217 Gene



SOURCE GeneReport for Unigene cluster for KIAA1217 Gene Hs.445885

genes like me logo Genes that share expression patterns with KIAA1217: view

Protein tissue co-expression partners for KIAA1217 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for KIAA1217 Gene

Orthologs for KIAA1217 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA1217 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIAA1217 35
  • 84.67 (n)
  • 83.37 (a)
KIAA1217 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1217 35
  • 85.34 (n)
  • 84.8 (a)
KIAA1217 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Etl4 35
  • 83.21 (n)
  • 82.24 (a)
Etl4 16
Etl4 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA1217 35
  • 99.13 (n)
  • 98.91 (a)
KIAA1217 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etl4 35
  • 82.37 (n)
  • 81.23 (a)
oppossum
(Monodelphis domestica)
Mammalia KIAA1217 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1217 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1217 35
  • 69.7 (n)
  • 68.41 (a)
KIAA1217 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1217 35
  • 62.3 (n)
  • 58.87 (a)
Str.6301 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.18277 35
zebrafish
(Danio rerio)
Actinopterygii si:ch211-285f17.1 35
  • 56.56 (n)
  • 52.39 (a)
si:ch211-207d6.2 36
  • 41 (a)
OneToMany
si:ch211-285f17.1 36
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32809 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.15 36
  • 18 (a)
OneToMany
Species with no ortholog for KIAA1217:
  • 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)
  • 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)

Evolution for KIAA1217 Gene

ENSEMBL:
Gene Tree for KIAA1217 (if available)
TreeFam:
Gene Tree for KIAA1217 (if available)

Paralogs for KIAA1217 Gene

Paralogs for KIAA1217 Gene

(1) SIMAP similar genes for KIAA1217 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with KIAA1217: view

Variants for KIAA1217 Gene

Sequence variations from dbSNP and Humsavar for KIAA1217 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs17506606 - 24,380,948(+) GTCCG(C/G)TGATT reference, missense, utr-variant-5-prime
rs10828663 - 24,524,525(+) GCCAC(A/G)CGCAG reference, missense
rs16924863 - 24,543,354(+) TGAAC(C/G)CTAAT intron-variant, reference, missense
rs991 -- 24,546,270(-) TTCTG(G/T)GCCTT reference, synonymous-codon, utr-variant-3-prime
rs220334 -- 24,364,982(-) CACAA(A/G)AGATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1217 Gene

Variant ID Type Subtype PubMed ID
nsv894967 CNV Loss 21882294
nsv894968 CNV Loss 21882294
nsv6054 CNV Insertion 18451855
esv2734062 CNV Deletion 23290073
esv2673562 CNV Deletion 23128226
esv2531113 CNV Deletion 19546169
nsv825306 CNV Loss 20364138
nsv6065 CNV Insertion 18451855
dgv139n67 CNV Gain 20364138
nsv442172 CNV CNV 18776908
nsv6077 CNV Loss 18451855
nsv6088 CNV Insertion 18451855
esv2658343 CNV Deletion 23128226
esv273968 CNV Insertion 20981092
esv268602 CNV Insertion 20981092
nsv24699 CNV Loss 16902084
nsv437661 CNV Loss 16327808
nsv512152 CNV Loss 21212237
esv2664058 CNV Deletion 23128226
esv2734073 CNV Deletion 23290073
nsv442572 CNV CNV 18776908
nsv25425 CNV Loss 16902084
nsv520378 CNV Loss 19592680
esv2658496 CNV Deletion 23128226
nsv517235 CNV Loss 19592680
esv2673016 CNV Deletion 23128226
esv2666654 CNV Deletion 23128226
nsv466836 CNV Loss 19166990
esv2540928 CNV Deletion 19546169
nsv7200 OTHER Inversion 18451855
nsv819511 CNV Gain 19587683
esv2734084 CNV Deletion 23290073

Variation tolerance for KIAA1217 Gene

Residual Variation Intolerance Score: 5.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.49; 85.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA1217 Gene

HapMap Linkage Disequilibrium report
KIAA1217
Human Gene Mutation Database (HGMD)
KIAA1217

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1217 Gene

Disorders for KIAA1217 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIAA1217 Gene - From: DISEASES

Disorder Aliases PubMed IDs
adjustment disorder
  • adjustment disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIAA1217

Genetic Association Database (GAD)
KIAA1217
Human Genome Epidemiology (HuGE) Navigator
KIAA1217
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA1217
genes like me logo Genes that share disorders with KIAA1217: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1217 Gene

Publications for KIAA1217 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. CBFI^ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression. (PMID: 23333304) Kim D.Y. … Gross J.D. (Mol. Cell 2013) 3

Products for KIAA1217 Gene

Sources for KIAA1217 Gene

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