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Aliases for KIAA1257 Gene

Aliases for KIAA1257 Gene

  • KIAA1257 2 3

External Ids for KIAA1257 Gene

Previous GeneCards Identifiers for KIAA1257 Gene

  • GC03M125647
  • GC03M129067
  • GC03M129911
  • GC03U900357
  • GC03M129988
  • GC03M130168
  • GC03M128685
  • GC03M126076
  • GC03M128629
  • GC03M128639
  • GC03M128660
  • GC03M128695
  • GC03M128911
  • GC03M128912

Summaries for KIAA1257 Gene

GeneCards Summary for KIAA1257 Gene

KIAA1257 (KIAA1257) is a Protein Coding gene.

Additional gene information for KIAA1257 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1257 Gene

Genomics for KIAA1257 Gene

GeneHancer (GH) Regulatory Elements for KIAA1257 Gene

Promoters and enhancers for KIAA1257 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I128993 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 550.3 +32.6 32600 1 CTCF MXI1 PKNOX1 INSM2 MAX SIN3A BMI1 ZNF335 POLR2A VEZF1 KIAA1257 ENSG00000187695 LOC653712 EFCC1
GH03I129024 Enhancer 1.4 Ensembl ENCODE dbSUPER 550.8 +0.1 144 2.9 CLOCK ATF1 SIN3A POLR2B GLIS2 ELK1 ZNF207 ZNF143 FOS ATF7 KIAA1257 EFCC1 GP9 CNBP RAB43 PIR62024
GH03I129116 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 33.4 -93.6 -93560 7.9 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 RAB43 KIAA1257 ISY1 GP9 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03I129223 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 24.2 -203.3 -203278 12 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B DMAP1 IRF4 YY1 GC03M129230 LOC105374102 KIAA1257 RAB43 CNBP GP9 ISY1 HMCES MBD4 RPL32P3
GH03I129050 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.3 -26.8 -26785 4.7 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 FOS DEK SP5 KIAA1257 ISY1 EFCC1 RAB43 CNBP RAB7A RPL32P3 GP9 LOC100130760
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KIAA1257 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIAA1257 gene promoter:

Genomic Locations for KIAA1257 Gene

Genomic Locations for KIAA1257 Gene
chr3:128,909,866-129,026,519
(GRCh38/hg38)
Size:
116,654 bases
Orientation:
Minus strand
chr3:128,628,709-128,721,533
(GRCh37/hg19)

Genomic View for KIAA1257 Gene

Genes around KIAA1257 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1257 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1257 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1257 Gene

Proteins for KIAA1257 Gene

  • Protein details for KIAA1257 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULG3-K1257_HUMAN
    Recommended name:
    Uncharacterized protein KIAA1257
    Protein Accession:
    Q9ULG3
    Secondary Accessions:
    • Q8IXY7
    • Q8N5T4

    Protein attributes for KIAA1257 Gene

    Size:
    409 amino acids
    Molecular mass:
    46740 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH38736.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA86571.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW79289.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1257 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1257 Gene

Post-translational modifications for KIAA1257 Gene

No Post-translational modifications

No data available for DME Specific Peptides for KIAA1257 Gene

Domains & Families for KIAA1257 Gene

Gene Families for KIAA1257 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIAA1257 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA1257: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KIAA1257 Gene

Function for KIAA1257 Gene

Phenotypes From GWAS Catalog for KIAA1257 Gene

Phenotypes for KIAA1257 Gene

genes like me logo Genes that share phenotypes with KIAA1257: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KIAA1257 Gene

Localization for KIAA1257 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIAA1257 gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KIAA1257 Gene

Pathways & Interactions for KIAA1257 Gene

SuperPathways for KIAA1257 Gene

No Data Available

Interacting Proteins for KIAA1257 Gene

Selected Interacting proteins: Q9ULG3-K1257_HUMAN for KIAA1257 Gene via IID

Symbol External ID(s) Details
ARHGAP1
TEAD4

Gene Ontology (GO) - Biological Process for KIAA1257 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA1257 Gene

Drugs & Compounds for KIAA1257 Gene

No Compound Related Data Available

Transcripts for KIAA1257 Gene

Unigene Clusters for KIAA1257 Gene

KIAA1257:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1257 Gene

No ASD Table

Relevant External Links for KIAA1257 Gene

GeneLoc Exon Structure for
KIAA1257
ECgene alternative splicing isoforms for
KIAA1257

Expression for KIAA1257 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA1257 Gene

mRNA differential expression in normal tissues according to GTEx for KIAA1257 Gene

This gene is overexpressed in Testis (x21.7) and Whole Blood (x6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KIAA1257 Gene



Protein tissue co-expression partners for KIAA1257 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIAA1257 Gene:

KIAA1257

SOURCE GeneReport for Unigene cluster for KIAA1257 Gene:

Hs.518247
genes like me logo Genes that share expression patterns with KIAA1257: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA1257 Gene

Orthologs for KIAA1257 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIAA1257 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1257 33 34
  • 99.67 (n)
cow
(Bos Taurus)
Mammalia KIAA1257 34
  • 60 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1257 34
  • 50 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC101883192 33
  • 51.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToOne
Species where no ortholog for KIAA1257 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIAA1257 Gene

ENSEMBL:
Gene Tree for KIAA1257 (if available)
TreeFam:
Gene Tree for KIAA1257 (if available)

Paralogs for KIAA1257 Gene

No data available for Paralogs for KIAA1257 Gene

Variants for KIAA1257 Gene

Sequence variations from dbSNP and Humsavar for KIAA1257 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1057518752 pathogenic, Acyl-CoA dehydrogenase family, member 9, deficiency of 128,910,144(-) C/G downstream_transcript_variant
rs114763241 likely-benign, Acyl-CoA dehydrogenase family, member 9, deficiency of 128,912,938(-) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs116106966 likely-benign, Acyl-CoA dehydrogenase family, member 9, deficiency of 128,912,675(-) C/G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs138871762 uncertain-significance, likely-benign, Acyl-CoA dehydrogenase family, member 9, deficiency of, not specified 128,910,132(-) C/A/T downstream_transcript_variant
rs146518015 likely-benign, Acyl-CoA dehydrogenase family, member 9, deficiency of 128,912,830(-) GAGAGAGAGA/GAGAGA/GAGAGAGA/GAGAGAGAGAGA 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1257 Gene

Variant ID Type Subtype PubMed ID
nsv591650 CNV loss 21841781
nsv519919 CNV loss 19592680
nsv3996 CNV deletion 18451855
esv3597731 CNV gain 21293372
esv3597730 CNV gain 21293372

Variation tolerance for KIAA1257 Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.03; 37.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIAA1257 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1257

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1257 Gene

Disorders for KIAA1257 Gene

Additional Disease Information for KIAA1257

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KIAA1257 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA1257 Gene

Publications for KIAA1257 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. GWAS of dental caries patterns in the permanent dentition. (PMID: 23064961) Shaffer JR … Marazita ML (Journal of dental research 2013) 3 58
  4. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G … Rudan I (PLoS genetics 2013) 3 58
  5. Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies. (PMID: 18579725) Sakai N … Sakurada K (The Journal of endocrinology 2008) 3 58

Products for KIAA1257 Gene

Sources for KIAA1257 Gene

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