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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ICA1L Gene

protein-coding   GIFtS: 46
GCID: GC02M203639

islet cell autoantigen 1,69kDa-like

(Previous names: amyotrophic lateral sclerosis 2 (juvenile) chromosome region,...)
(Previous symbols: ALS2CR15, ALS2CR14)
 Explore 2 diseases affiliated with
ICA1L via our new
 Human Malady Compendium 
Biological research products
for ICA1L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Islet Cell Autoantigen 1,69kDa-Like1 2     Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 14 Protein2 3
ALS2CR141 2 3     Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 15 Protein2 3
ALS2CR151 2 3     Ica69-Related Protein2
Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 141 2     Islet Cell Autoantigen 1-Like Protein2
Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 151 2     

External Ids:    HGNC: 144421   Entrez Gene: 1300262   Ensembl: ENSG000001635967   UniProtKB: Q8NDH63   

Export aliases for ICA1L gene to outside databases

Previous GC identifers: GC02M203350 GC02M195484


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ICA1L gene promoter:
         SRF   SRF (504 AA)   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ICA1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ICA1L


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

Entrez Gene cytogenetic band: 2q33.2   Ensembl cytogenetic band:  2q33.2   HGNC cytogenetic band: 2q33

ICA1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ICA1L gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M203639:  view genomic region     (about GC identifiers)

Start:
203,637,873 bp from pter      End:
203,736,708 bp from pter
Size:
98,836 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ICA1L_HUMAN, Q8NDH6 (See protein sequence)
Recommended Name: Islet cell autoantigen 1-like protein  
Size: 482 amino acids; 54407 Da
Secondary accessions: B3KRW6 Q53P45 Q53QZ4 Q53T97 Q96N47 Q96Q32 Q9BVQ2
Alternative splicing: 2 isoforms:  Q8NDH6-1   Q8NDH6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ICA1L: NX_Q8NDH6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NDH6

  • ICA1L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_612477.3  NP_839945.1  

    ENSEMBL proteins: 
     ENSP00000376070   ENSP00000351047   ENSP00000398916   ENSP00000400249   ENSP00000404189  
     ENSP00000412158   ENSP00000410747   ENSP00000405592   ENSP00000410135   ENSP00000404618  
     ENSP00000387382   ENSP00000398420   ENSP00000404707   ENSP00000397827   ENSP00000392609  
     ENSP00000416726   ENSP00000409741   ENSP00000414916  

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    Uscn Proteins for ICA1L


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    Uscn ELISAs and CLIAs for ICA1L


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ICA1L for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR024114 Islet_autoAg_Ica1/Ica1-like
     IPR010504 AH_dom
     IPR006723 Islet_autoAg_Ica1_C

    Graphical View of Domain Structure for InterPro Entry Q8NDH6

    ProtoNet protein and cluster: Q8NDH6

    2 Blocks protein families:
    IPB006723 Islet cell autoantigen ICA69 homologue
    IPB010504 Arfaptin-like


    UniProtKB/Swiss-Prot: ICA1L_HUMAN, Q8NDH6
    Similarity: Contains 1 AH domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    OriGene 3'-UTR Clone (see all 2): ICA1L
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ICA1L
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    hsa-miR-607 hsa-miR-429 hsa-miR-500a hsa-miR-105 hsa-miR-4314 hsa-miR-409-5p hsa-miR-200b hsa-miR-647
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ICA1L

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019904protein domain specific binding IEA--


    ICA1L for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for ICA1L:
     Decreased G3BP1 protein expres  Increased S DNA content  Increased number of mitotic ce 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ICA1L

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    4 Interacting proteins for ICA1L (Q8NDH63 ENSP000003510474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PICK1Q9NRD53I2D: score=5 
    RPSAP088653I2D: score=5 
    UBE2E2Q96LR53I2D: score=5 
    LCMT1ENSP000003820214STRING: ENSP00000382021
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ICA1L
    Search CenterWatch for drugs/clinical trials and news about ICA1L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ICA1L gene (2 alternative transcripts): 
    NM_138468.4  NM_178231.2  

    Unigene Cluster for ICA1L:

    Islet cell autoantigen 1,69kDa-like
    Hs.516629  [show with all ESTs]
    Unigene Representative Sequence: NM_138468
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000392237(uc002uzh.1 uc002uzi.1 uc021vvi.1) ENST00000358299
    ENST00000438804 ENST00000420558 ENST00000494560 ENST00000476602 ENST00000425178(uc002uzj.3)
    ENST00000418208 ENST00000450143 ENST00000435143 ENST00000419460 ENST00000441547
    ENST00000412210 ENST00000437978 ENST00000457524 ENST00000432273 ENST00000416760
    ENST00000454326

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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate ICA1L (see all 36):
    hsa-miR-607 hsa-miR-429 hsa-miR-500a hsa-miR-105 hsa-miR-4314 hsa-miR-409-5p hsa-miR-200b hsa-miR-647
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    Additional cDNA sequence: 

    AB053316.1 AB053317.1 AK055978.1 AK092310.1 AK124756.1 AL833904.1 BC000993.2 BC063876.1 
    BC093902.1 BC112235.1 

    17 DOTS entries:

    DT.91940439  DT.99937523  DT.99939323  DT.91982887  DT.40124826  DT.306976  DT.40275653  DT.121003209 
    DT.121003238  DT.306978  DT.433040  DT.121003220  DT.121003240  DT.40276650  DT.40293648  DT.91982888 
    DT.91979443 

    24/66 AceView cDNA sequences (see all 66):

    AX747473 AU186027 CD244054 AK092310 AA324506 BC063876 CA447283 AL833904 
    BU689994 NM_138468 M78317 AA774047 BX279983 BC000993 BE540319 BF793908 
    BM129642 BM129358 BQ549302 BU753318 BP369364 AI298642 BF378039 BM565108 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ICA1L    About this scheme

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


    ECgene alternative splicing isoforms for ICA1L

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ICA1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCTCTATCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ICA1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ICA1L

    SOURCE GeneReport for Unigene cluster: Hs.516629
        SABiosciences Custom PCR Arrays for ICA1L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ICA1L

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ICA1L gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ica1l1 , 5 islet cell autoantigen 1-like1, 5 83.57(n)1
    81.63(a)1
      1 (30.45 cM)5
    703751  NM_027407.31  NP_081683.31 
     599890705 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.174312 Danio rerio mRNA similar to islet cell autoantigen more 75.31(n)    BC044404.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG105666
    --
    35(a)
    1 → many
    3L(21124546-21126410)
    worm
    (Caenorhabditis elegans)
    Secernentea ric-196
    Resistance to inhibitors of cholinesterase protein...
    30(a)
    1 → many
    I(3778093-3781661)


    ENSEMBL Gene Tree for ICA1L (if available)
    TreeFam Gene Tree for ICA1L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ICA1L gene
    ICA12  
    3 SIMAP similar genes for ICA1L using alignment to 15 protein entries:     ICA1L_HUMAN (see all proteins):
    ALS2CR14    ICAp69    ICA1

    ICA1L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1372 NCBI SNPs in ICA1L are shown (see all 1372    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1163081311,2
    F,--203637414(+) GCAATC/AGCGGC 1 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1512459521,2
    --203637415(+) CAATCA/GCGGCT 1 -- ds50010--------
    rs1423141431,2
    --203637523(+) TTGTAC/TTTTTA 1 -- ds50010--------
    rs1461110391,2
    --203637656(+) ATTGGG/TTTTTA 1 -- ds50010--------
    rs1388933951,2
    --203637769(+) AAAATA/GTGTTA 1 -- ds50010--------
    rs1157394231,2
    C,F,--203637779(+) AGTAGT/CGGTTA 1 -- ds50011Minor allele frequency- C:0.13WA 118
    rs1894457361,2
    --203637872(+) TTTTTA/TAAATT 1 -- ds50010--------
    rs75979591,2
    C,F,A,H,--203637873(+) TTTTTA/TAATTT 1 -- ut318Minor allele frequency- T:0.42NA CSA WA EA 372
    rs1808267651,2
    --203637933(+) CAAAGA/GAATGA 1 -- ut310--------
    rs562532331,2
    C--203637935(+) AAGAAA/GTGAAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ICA1L (203637873 - 203736708 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ICA1L: --

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    (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.)
    About This Section

    ICA1L for disorders           About GeneDecksing

    2 diseases for ICA1L:    About MalaCards
    amyotrophic lateral sclerosis    lateral sclerosis

    Human Genome Epidemiology (HuGE) Navigator: ICA1L (1 document)

    Export disorders for ICA1L 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)
    About This Section

    PubMed articles for ICA1L gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ICA1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 2, 3 Hadano S....Ikeda J.-E. (2001)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. 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. (2002)

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

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 130026 HGNC: 14442 AceView: ALS2CR15 Ensembl:ENSG00000163596 euGenes: HUgn130026
    ECgene: ICA1L H-InvDB: ICA1L

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ICA1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ICA1L gene:
    Search GeneIP for patents involving ICA1L

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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