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KIAA0125 Gene

protein-coding   GIFtS: 30
GCID: GC14P106383

KIAA0125

(Previous names: family with sequence similarity 30, member A, chromosome...)
(Previous symbols: FAM30A, C14orf110)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
KIAA01251 2
C14orf1101 2 3
FAM30A1 2 3
Chromosome 14 Open Reading Frame 1101
Family With Sequence Similarity 30, Member A1

External Ids:    HGNC: 199551   Entrez Gene: 98342   Ensembl: ENSG000002267777   UniProtKB: Q9NZY23   
ORGUL members:         

Export aliases for KIAA0125 gene to outside databases

Previous GC identifers: GC15M018302 GC14P100319 GC14P104362 GC14P105461 GC14P106357 GC14P086516


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KIAA0125 Gene:
KIAA0125 (KIAA0125) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  NT_187600.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA0125 gene promoter:
         AP-2rep   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA0125

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA0125


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

KIAA0125 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0125 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P106383:  view genomic region     (about GC identifiers)

Start:
106,383,838 bp from pter      End:
106,398,502 bp from pter
Size:
14,665 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for KIAA0125

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: K0125_HUMAN, Q9NZY2 (See protein sequence)
Recommended Name: Putative uncharacterized protein KIAA0125  
Size: 134 amino acids; 14626 Da
Caution: Product of a dubious gene prediction
Sequence caution: Sequence=AAF29025.1; Type=Frameshift; Positions=6, 61, 72;
Secondary accessions: C9J8W9

Explore the universe of human proteins at neXtProt for KIAA0125: NX_Q9NZY2

Explore proteomics data for KIAA0125 at MOPED


See KIAA0125 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000410947   ENSP00000410360  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q9NZY2


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     3 GenomeRNAi human phenotypes for KIAA0125:
 Increased G1 DNA content  Increased HPV18 LCR reporter a  Synthetic lethal with Ras 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular2
cytosol1
nucleus1
plasma membrane1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIAA0125
Interactions:

    Search GeneGlobe Interaction Network for KIAA0125

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for KIAA0125 (K0125)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for KIAA0125 gene (2 alternative transcripts): 
NM_014151.1  NM_014792.2  

Unigene Cluster for KIAA0125:

KIAA0125
Hs.649259  [show with all ESTs]
Unigene Representative Sequence: NR_026800
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000482999(uc001yst.3) ENST00000449410 ENST00000429431(uc001ysq.3 uc001ysr.3 uc001yss.3)
ENST00000489911 ENST00000484511
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Additional mRNA sequence: 

AF161538.1 AK125627.1 BC016766.1 BC030286.1 BC152473.1 D50915.1 NR_026800.1 

4 DOTS entries:

DT.75155029  DT.75116170  DT.100644346  DT.121626188 

Selected AceView cDNA sequences (see all 35):

AA872193 BX281035 AW451894 AW449001 BC030286 BX112585 AI220332 AW450870 
AV762163 AA971920 AW204811 D50915 BC016766 AF150199 AK125627 AV760225 
AA808344 NM_014792 AW575906 AF161538 BV166879 BF380820 BM919423 BI836093 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KIAA0125 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
KIAA0125 Expression
About this image

KIAA0125 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KIAA0125 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.649259
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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and chimp.

Orthologs for KIAA0125 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA01256
KIAA0125
91(a)
1 ↔ 1
14(105630864-105632369)


ENSEMBL Gene Tree for KIAA0125 (if available)
TreeFam Gene Tree for KIAA0125 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KIAA0125 gene
1 SIMAP similar gene for KIAA0125 using alignment to 1 protein entry:     K0125_HUMAN:
FAM30A

Find genes that share paralogs with KIAA0125           About GenesLikeMe


2 Pseudogenes.org Pseudogenes for KIAA0125
PGOHUM00000246954 PGOHUM00000246973


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KIAA0125 (see all 491)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 14 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1882884101,2
--106381912(+) GCCTGC/TTTTCC 1 -- us2k10--------
rs101403571,2
C,H--106381916(+) gttttC/Tcttca 1 -- us2k15Minor allele frequency- T:0.00NS EA NA 418
rs1911111281,2
--106381933(+) TGTTTA/GCTTCA 1 -- us2k10--------
rs28573411,2
C--106381959(-) TGTTTC/GTCATA 1 -- us2k12Minor allele frequency- G:0.00NA 4
rs1837081701,2
--106381961(+) TGACAA/GACATA 1 -- us2k10--------
rs25169491,2
--106381965(-) AACATG/ATGTTT 1 -- us2k12Minor allele frequency- A:0.00NA 4
rs619936591,2
--106381966(+) AACATC/ATGTTC 1 -- us2k11Minor allele frequency- A:0.00NA 2
rs28573401,2
C--106381971(-) GTGCAC/GAACAT 1 -- us2k12Minor allele frequency- G:0.00NA 4
rs1876209601,2
--106382053(+) GGAGTG/TCCTGC 1 -- us2k10--------
rs613102921,2
C,F--106382141(+) GCTTGC/TTTCTG 1 -- us2k12Minor allele frequency- T:0.07CSA NA 121

HapMap Linkage Disequilibrium report for KIAA0125 (106383838 - 106398502 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for KIAA0125 (see all 36):    About this table    
Variant IDTypeSubtypePubMed ID
nsv436179CNV Deletion17901297
dgv423e199CNV Deletion23128226
nsv436184CNV Deletion17901297
dgv422e199CNV Deletion23128226
nsv827138CNV Loss20364138
nsv827111CNV Loss20364138
esv1001368CNV Loss20482838
dgv392n67CNV Loss20364138
nsv1443CNV Loss18451855
nsv827146CNV Loss20364138

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KIAA0125
DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0125

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KIAA0125 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KIAA0125)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
  2. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8590280)1, 3 Nagase T.... Nomura N. (DNA Res. 1995)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (Nature 2003)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  6. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)
  7. The use of chromosomal translocations to study human immunoglobulin gene organization: mapping DH segments within 35 kb of the C mu gene and identification of a new DH locus. (PubMed id 3138112)1 Buluwela L....Rabbitts T.H. (EMBO J. 1988)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9834 HGNC: 19955 AceView: KIAA0125 Ensembl:ENSG00000226777 euGenes: HUgn9834
ECgene: KIAA0125 H-InvDB: KIAA0125

(According to HUGE)
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HUGE: KIAA0125

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KIAA0125 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KIAA0125 gene:
Search GeneIP for patents involving KIAA0125

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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