Aliases for KIAA1614 Gene

Aliases for KIAA1614 Gene

  • KIAA1614 2 3 5
  • Uncharacterized Protein KIAA1614 3 4

External Ids for KIAA1614 Gene

Previous GeneCards Identifiers for KIAA1614 Gene

  • GC01P178406
  • GC01P176310
  • GC01P177402
  • GC01P178105
  • GC01P177613
  • GC01P179148
  • GC01P180882
  • GC01P152113

Summaries for KIAA1614 Gene

GeneCards Summary for KIAA1614 Gene

KIAA1614 (KIAA1614) is a Protein Coding gene. Diseases associated with KIAA1614 include Fanconi Anemia, Complementation Group E. An important paralog of this gene is SYNJ2BP.

Additional gene information for KIAA1614 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIAA1614 Gene

Genomics for KIAA1614 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIAA1614 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
GH01J180911 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.1 -64 3.1 BACH1 IKZF2 POLR2A EZH2 DPF2 RELB GATAD2B ZNF592 YY1 ELF1 KIAA1614 ENSG00000243155 LINC02816 XPR1
GH01J181126 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.6 +214.0 214031 1.4 ZNF221 CREB1 PRDM10 ZNF629 ZNF692 TARDBP ZHX2 ZNF300 LARP7 RELA HSALNG0008855 LHX4 IER5 LHX4-AS1 KIAA1614 MR1 lnc-STX6-7 CACNA1E
GH01J181132 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 11.6 +222.0 222019 4.4 ARHGAP35 HNRNPL CREB1 GATAD2A CTCF ZBTB33 ATF7 YBX1 PRDM10 ZNF629 LINC01732 LHX4 LHX4-AS1 IER5 KIAA1614 MR1 STX6 HSALNG0008855 CACNA1E
GH01J180981 Enhancer 0.9 Ensembl ENCODE dbSUPER 17.8 +69.2 69151 1.7 ZIC2 IKZF2 RELB RUNX3 SMC3 ELF1 IKZF1 NR2F1 SPI1 EBF1 KIAA1614 LINC02816 lnc-KIAA1614-6 lnc-ACBD6-7 STX6
GH01J181032 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 9.3 +121.2 121175 3.1 RNF2 CREB1 ZNF629 REST ZNF512 LEF1 IKZF1 RFX5 POLR2A JUND MR1 ENSG00000243155 IER5 KIAA1614 piR-33422-029
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA1614 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA1614

Top Transcription factor binding sites by QIAGEN in the KIAA1614 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • Elk-1
  • HNF-1
  • HNF-1A
  • HOXA5
  • NRSF form 1
  • NRSF form 2
  • RREB-1

Genomic Locations for KIAA1614 Gene

Genomic Locations for KIAA1614 Gene
chr1:180,912,897-180,951,614
(GRCh38/hg38)
Size:
38,718 bases
Orientation:
Plus strand
chr1:180,882,290-180,920,750
(GRCh37/hg19)
Size:
38,461 bases
Orientation:
Plus strand

Genomic View for KIAA1614 Gene

Genes around KIAA1614 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1614 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1614 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1614 Gene

Proteins for KIAA1614 Gene

  • Protein details for KIAA1614 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VZ46-K1614_HUMAN
    Recommended name:
    Uncharacterized protein KIAA1614
    Protein Accession:
    Q5VZ46
    Secondary Accessions:
    • Q5VZ45
    • Q9HCF8

    Protein attributes for KIAA1614 Gene

    Size:
    1190 amino acids
    Molecular mass:
    126604 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB13440.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1614 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1614 Gene

Post-translational modifications for KIAA1614 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIAA1614 Gene

No data available for DME Specific Peptides for KIAA1614 Gene

Domains & Families for KIAA1614 Gene

Gene Families for KIAA1614 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIAA1614 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with KIAA1614: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KIAA1614 Gene

Function for KIAA1614 Gene

Phenotypes From GWAS Catalog for KIAA1614 Gene

Gene Ontology (GO) - Molecular Function for KIAA1614 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005080 protein kinase C binding IBA 21873635
GO:0005515 protein binding IEA --
GO:0017048 Rho GTPase binding IBA 21873635
genes like me logo Genes that share ontologies with KIAA1614: view
genes like me logo Genes that share phenotypes with KIAA1614: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1614

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA1614 Gene

Localization for KIAA1614 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 KIAA1614 gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIAA1614 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005938 cell cortex IBA 21873635
GO:0016324 apical plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with KIAA1614: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KIAA1614 Gene

Pathways & Interactions for KIAA1614 Gene

PathCards logo

SuperPathways for KIAA1614 Gene

No Data Available

Interacting Proteins for KIAA1614 Gene

Gene Ontology (GO) - Biological Process for KIAA1614 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007098 centrosome cycle IBA 21873635
GO:0007163 establishment or maintenance of cell polarity IBA 21873635
GO:0060341 regulation of cellular localization IBA 21873635
genes like me logo Genes that share ontologies with KIAA1614: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA1614 Gene

Drugs & Compounds for KIAA1614 Gene

No Compound Related Data Available

Transcripts for KIAA1614 Gene

mRNA/cDNA for KIAA1614 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1614

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1614 Gene

No ASD Table

Relevant External Links for KIAA1614 Gene

GeneLoc Exon Structure for
KIAA1614

Expression for KIAA1614 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIAA1614 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Eye (Sensory Organs)

Protein differential expression in normal tissues from HIPED for KIAA1614 Gene

This gene is overexpressed in CD4 Tcells (19.7), Liver, secretome (16.3), NK cells (9.9), and Tlymphocyte (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KIAA1614 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIAA1614

SOURCE GeneReport for Unigene cluster for KIAA1614 Gene:

Hs.734816

Evidence on tissue expression from TISSUES for KIAA1614 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with KIAA1614: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA1614 Gene

Orthologs for KIAA1614 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIAA1614 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA1614 30 31
  • 97.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIAA1614 30 31
  • 77.97 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA1614 30 31
  • 77.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia BC034090 30 17 31
  • 71.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1304622 30
  • 70.67 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1614 31
  • 35 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIAA1614 31
  • 34 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 54 (a)
OneToMany
-- 31
  • 41 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia KIAA1614 31
  • 37 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-121a11.3 31
  • 26 (a)
OneToMany
si:ch211-13f8.1 31
  • 20 (a)
OneToMany
Species where no ortholog for KIAA1614 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KIAA1614 Gene

ENSEMBL:
Gene Tree for KIAA1614 (if available)
TreeFam:
Gene Tree for KIAA1614 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA1614: view image

Paralogs for KIAA1614 Gene

Paralogs for KIAA1614 Gene

genes like me logo Genes that share paralogs with KIAA1614: view

Variants for KIAA1614 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA1614 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs10732273 - p.Leu64Pro
rs17302207 - p.Arg740Trp
rs2331995 - p.Asn1078Asp
rs3747959 - p.His214Tyr
rs3795504 - p.Leu801Phe

Additional dbSNP identifiers (rs#s) for KIAA1614 Gene

Structural Variations from Database of Genomic Variants (DGV) for KIAA1614 Gene

Variant ID Type Subtype PubMed ID
esv3890804 CNV gain 25118596
nsv1001918 CNV loss 25217958
nsv1068340 CNV deletion 25765185

Variation tolerance for KIAA1614 Gene

Residual Variation Intolerance Score: 94.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.17; 75.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIAA1614 Gene

Human Gene Mutation Database (HGMD)
KIAA1614
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1614

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1614 Gene

Disorders for KIAA1614 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIAA1614 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group e
  • fance
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIAA1614

genes like me logo Genes that share disorders with KIAA1614: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1614 Gene

Publications for KIAA1614 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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 research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3

Products for KIAA1614 Gene

Sources for KIAA1614 Gene