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KIAA1324L Gene

protein-coding   GIFtS: 50
GCID: GC07M086506

KIAA1324-Like

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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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Aliases
KIAA1324-like1 2
EIG121L2 3 5
EIG121-like1 2
Estrogen-Induced Gene 121-Like Protein2 3
UPF0577 Protein KIAA1324-Like2
hEIG121L3

External Ids:    HGNC: 219451   Entrez Gene: 2222232   Ensembl: ENSG000001646597   OMIM: 6140485   UniProtKB: A8MWY03   

Export aliases for KIAA1324L gene to outside databases

Previous GC identifers: GC07M086154 GC07M086347 GC07M081117


(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 KIAA1324L Gene:
KIAA1324L (KIAA1324-like) is a protein-coding gene. An important paralog of this gene is KIAA1324.


(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_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1324L gene promoter:
         FOXO3   POU6F1 (c2)   CUTL1   Cdc5   C/EBPalpha   Evi-1   FOXO3b   Cart-1   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): KIAA1324L promoter sequence
   Search Chromatin IP Primers for KIAA1324L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1324L


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

Entrez Gene cytogenetic band: 7q21.12   Ensembl cytogenetic band:  7q21.12   HGNC cytogenetic band: 7q21.12

KIAA1324L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1324L gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M086506:  view genomic region     (about GC identifiers)

Start:
86,506,222 bp from pter      End:
86,689,015 bp from pter
Size:
182,794 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 85,837,967-86,020,533     

(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: K132L_HUMAN, A8MWY0 (See protein sequence)
Recommended Name: UPF0577 protein KIAA1324-like precursor  
Size: 1029 amino acids; 113842 Da
Sequence caution: Sequence=AAI17310.1; Type=Erroneous initiation; Sequence=BAB71041.1; Type=Frameshift;
Positions=719;
Secondary accessions: A4D1C9 B4DJV3 Q17RI6 Q96DP2
Alternative splicing: 3 isoforms:  A8MWY0-1   A8MWY0-2   A8MWY0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1324L: NX_A8MWY0

Explore proteomics data for KIAA1324L at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn169, Asn405, Asn691
  • Modification sites at PhosphoSitePlus

  • See KIAA1324L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001136221.1  NP_689961.3  

    ENSEMBL proteins: 
     ENSP00000413445   ENSP00000397377   ENSP00000378203   ENSP00000402390   ENSP00000406961  
     ENSP00000387496   ENSP00000381325   ENSP00000410045   ENSP00000297222  

    KIAA1324L Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for KIAA1324L 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR009011 Man6P_isomerase_rcpt-bd_dom
     IPR009030 Growth_fac_rcpt_N_dom

    Graphical View of Domain Structure for InterPro Entry A8MWY0

    ProtoNet protein and cluster: A8MWY0

    UniProtKB/Swiss-Prot: K132L_HUMAN, A8MWY0
    Similarity: Belongs to the UPF0577 family


    Find genes that share domains with KIAA1324L           About GenesLikeMe


    (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:
         1 GenomeRNAi human phenotype for KIAA1324L:
     Increased cell number in G1, s 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA1324L
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KIAA1324L

    miRNA
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    miRTarBase miRNAs that target KIAA1324L:
    hsa-mir-335-5p (MIRT017194)

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    Selected qRT-PCR Assays for microRNAs that regulate KIAA1324L (see all 66):
    hsa-miR-607 hsa-miR-3607-3p hsa-miR-605 hsa-miR-3161 hsa-miR-489 hsa-miR-3148 hsa-miR-761 hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1324L 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KIAA1324L

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1324L


    (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 UniProtKB/Swiss-Prot
    K132L_HUMAN, A8MWY0: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with KIAA1324L           About GenesLikeMe


    (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 KIAA1324L
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1324L

    (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 KIAA1324L (K132L)



    (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 KIAA1324L gene (2 alternative transcripts): 
    NM_001142749.2  NM_152748.3  

    Unigene Cluster for KIAA1324L:

    KIAA1324-like
    Hs.208093  [show with all ESTs]
    Unigene Representative Sequence: NM_001142749
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450689(uc003uie.3 uc011kgz.2 uc003uif.2 uc011kha.2)
    ENST00000444627 ENST00000394714 ENST00000416314 ENST00000480216 ENST00000423294
    ENST00000427812 ENST00000470853 ENST00000490995 ENST00000474609 ENST00000398276
    ENST00000425689 ENST00000297222
    miRNA
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    Block miRNA regulation of human, mouse, rat KIAA1324L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIAA1324L (see all 66):
    hsa-miR-607 hsa-miR-3607-3p hsa-miR-605 hsa-miR-3161 hsa-miR-489 hsa-miR-3148 hsa-miR-761 hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1324L 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KIAA1324L
    Predesigned siRNA for gene silencing in human, mouse, rat KIAA1324L
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIAA1324L
      QuantiTect SYBR Green Assays in human, mouse, rat KIAA1324L
      QuantiFast Probe-based Assays in human, mouse, rat KIAA1324L

    Additional mRNA sequence: 

    AK055902.1 AK296250.1 AK303619.1 BC117309.1 NR_030672.1 

    17 DOTS entries:

    DT.210695  DT.100735528  DT.100781795  DT.102843238  DT.307292  DT.40108629  DT.121051501  DT.102843244 
    DT.121051506  DT.121051446  DT.121051452  DT.75197377  DT.91671727  DT.92014153  DT.102843245  DT.121051382 
    DT.121051387 

    Selected AceView cDNA sequences (see all 60):

    BM752466 AI797353 AA305780 CA448279 CD655511 BU687296 NM_152748 AA927017 
    AK055902 AW665873 AA010992 CA407428 BM783507 BM759885 CB241751 CB120618 
    AI830505 BQ182610 AI885785 CD676972 AI949321 BM771726 BM723980 BX498549 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1324L    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                                            -     -                                                     -                                                   
    SP2:                                                  -                                                                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:        -                                                                                                                                                   


    ECgene alternative splicing isoforms for KIAA1324L

    (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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    KIAA1324L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAGCATATG
    KIAA1324L Expression
    About this image

    KIAA1324L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1324L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.208093
        Custom PCR Arrays for KIAA1324L
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    In Situ
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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 animals.

    Orthologs for KIAA1324L gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 9330182L06Rik1 , 5 RIKEN cDNA 9330182L06 gene1, 5 89.11(n)1
    93(a)1
      5 (3.69 cM)5
    2310141  NM_172706.31  NP_766294.21 
     92661185 
    chicken
    (Gallus gallus)
    Aves KIAA1324L1 KIAA1324-like 77.73(n)
    83.25(a)
      418645  XM_416843.4  XP_416843.4 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA1324L6
    KIAA1324-like
    78(a)
    1 ↔ 1
    5(89746388-89863823)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX844402.12   -- 75.53(n)    BX844402.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AI878084.12   -- 72.85(n)   325168  AI878084.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y73F8A.51 CELE_Y73F8A.5 44.79(n)
    33.92(a)
      178425  NM_070440.5  NP_502841.1 


    ENSEMBL Gene Tree for KIAA1324L (if available)
    TreeFam Gene Tree for KIAA1324L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1324L gene
    KIAA13242  
    1 SIMAP similar gene for KIAA1324L using alignment to 7 protein entries:     K132L_HUMAN (see all proteins):
    KIAA1324

    Find genes that share paralogs with KIAA1324L           About GenesLikeMe



    (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 KIAA1324L (see all 3290)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs593806851,2
    C--81131756(+) ATGAA-/TGTA  
            
    ATATC
    3 -- int10--------
    rs1880383301,2
    --86505786(+) TACCAA/GTGAAT 3 -- int10--------
    rs1923631521,2
    --86506006(+) CTAAAA/GGGAAA 3 -- int10--------
    rs102399391,2
    H--86506134(+) aagacC/Ttgaga 3 -- int14Minor allele frequency- T:0.00NS EA 418
    rs1416956821,2
    C--86506157(+) TTTAC-/ATTTTT 3 -- int10--------
    rs774795941,2
    C--86506422(+) GTAATA/CATAAT 3 -- ut31 nc-transcript-variant0--------
    rs77817821,2
    C,F,A,H--86506594(+) TATGAA/GGATGA 3 -- ut31 nc-transcript-variant19Minor allele frequency- G:0.08NS EA NA WA 2110
    rs1826175521,2
    --86506619(+) TCCAAC/TGAATG 3 -- ut31 nc-transcript-variant0--------
    rs1888686251,2
    --86506665(+) TAAGGA/GCATTT 3 -- ut31 nc-transcript-variant0--------
    rs1923640221,2
    --86506666(+) AAGGAA/CATTTT 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for KIAA1324L (86506222 - 86689015 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIAA1324L (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674083CNV Deletion23128226
    esv2734771CNV Deletion23290073
    esv1677921CNV Deletion17803354
    esv998639CNV Deletion20482838
    nsv5825CNV Insertion18451855
    esv270310CNV Insertion20981092
    nsv824202CNV Loss20364138
    nsv527889CNV Gain19592680
    nsv8171CNV Gain18304495
    nsv483124CNV Gain15286789

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA1324L
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1324L

    (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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    OMIM gene information: 614048    OMIM disorders: --


    Find genes that share disorders with KIAA1324L           About GenesLikeMe

    Genetic Association Database (GAD): KIAA1324L

    Export disorders for KIAA1324L gene to outside databases

    (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 KIAA1324L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KIAA1324L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression of estrogen induced gene 121-like (EIG121L) during early Xenopus development. (PubMed id 17475571)1, 2 Araki T.... Nishida E. (Gene Expr. Patterns 2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    4. Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts. (PubMed id 22479309)4 Boraska V....Zeggini E. (PLoS ONE 2012)
    5. A transmembrane protein EIG121L is required for epidermal differentiation during early embryonic development. (PubMed id 21177533)1 Araki T....Nishida E. (J. Biol. Chem. 2011)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
    9. 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)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
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    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: 222223 HGNC: 21945 AceView: FLJ31340 Ensembl:ENSG00000164659 euGenes: HUgn222223
    ECgene: KIAA1324L H-InvDB: KIAA1324L

    (According to HUGE)
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    HUGE: KIAA1324L

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KIAA1324L 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 KIAA1324L gene:
    Search GeneIP for patents involving KIAA1324L

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



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