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Aliases for ICA1L Gene

Aliases for ICA1L Gene

  • Islet Cell Autoantigen 1 Like 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 14 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 15 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 15 2 3
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 14 2 3
  • Islet Cell Autoantigen 1,69kDa-Like 2 3
  • ALS2CR14 3 4
  • ALS2CR15 3 4
  • Islet Cell Autoantigen 1-Like Protein 3
  • Ica69-Related Protein 3

External Ids for ICA1L Gene

Previous HGNC Symbols for ICA1L Gene

  • ALS2CR15
  • ALS2CR14

Previous GeneCards Identifiers for ICA1L Gene

  • GC02M203350
  • GC02M203639
  • GC02M195484
  • GC02M202777
  • GC02M202780
  • GC02M202781
  • GC02M202782

Summaries for ICA1L Gene

GeneCards Summary for ICA1L Gene

ICA1L (Islet Cell Autoantigen 1 Like) is a Protein Coding gene. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is ICA1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ICA1L Gene

Genomics for ICA1L Gene

Regulatory Elements for ICA1L Gene

Enhancers for ICA1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F202965 1.4 FANTOM5 Ensembl ENCODE 5.1 -93.8 -93758 1.2 HDAC1 PKNOX1 CBX3 CREB3L1 CHAMP1 CREM USF2 JUNB TBX21 CREB3 NBEAL1 WDR12 CARF ICA1L GC02M202945 GC02P202987
GH02F203237 1.1 ENCODE 5.4 -367.3 -367286 3.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 CBX5 CARF ICA1L CYP20A1 GC02M203237 PIR57218
GH02F203509 0.5 Ensembl ENCODE 11.1 -638.7 -638736 3.0 RAPH1 ICA1L GC02M203471
GH02F202185 1 Ensembl ENCODE 5.4 +686.2 686174 0.9 ESRRA PKNOX1 JUN MAX RAD21 YY1 POLR3A POLR2A HNF4G USF2 LOC729224 ICA1L PSMA2P3 LOC105373842
GH02F203551 1 Ensembl ENCODE 5.3 -680.1 -680074 1.3 GATAD2A TFAP4 HLF FOXA3 ZHX2 CEBPB CEBPG ZNF644 RAD21 NR2F2 ICA1L CARF RAPH1 GC02P203612
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ICA1L on UCSC Golden Path with GeneCards custom track

Promoters for ICA1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000605742 484 2199 ZFP64 ARID4B SIN3A ZNF2 GLIS2 MXD4 MIER2 SREBF1 RFX3 GLIS1

Genomic Location for ICA1L Gene

Chromosome:
2
Start:
202,773,150 bp from pter
End:
202,871,985 bp from pter
Size:
98,836 bases
Orientation:
Minus strand

Genomic View for ICA1L Gene

Genes around ICA1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ICA1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ICA1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ICA1L Gene

Proteins for ICA1L Gene

  • Protein details for ICA1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDH6-ICA1L_HUMAN
    Recommended name:
    Islet cell autoantigen 1-like protein
    Protein Accession:
    Q8NDH6
    Secondary Accessions:
    • B3KRW6
    • Q53P45
    • Q53QZ4
    • Q53T97
    • Q96N47
    • Q96Q32
    • Q9BVQ2

    Protein attributes for ICA1L Gene

    Size:
    482 amino acids
    Molecular mass:
    54407 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ICA1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ICA1L Gene

Post-translational modifications for ICA1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ICA1L Gene

Domains & Families for ICA1L Gene

Gene Families for ICA1L Gene

Suggested Antigen Peptide Sequences for ICA1L Gene

Graphical View of Domain Structure for InterPro Entry

Q8NDH6

UniProtKB/Swiss-Prot:

ICA1L_HUMAN :
  • Contains 1 AH domain.
Domain:
  • Contains 1 AH domain.
genes like me logo Genes that share domains with ICA1L: view

Function for ICA1L Gene

Gene Ontology (GO) - Molecular Function for ICA1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with ICA1L: view
genes like me logo Genes that share phenotypes with ICA1L: view

Animal Model Products

miRNA for ICA1L Gene

miRTarBase miRNAs that target ICA1L

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ICA1L Gene

Localization for ICA1L 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 ICA1L gene
Compartment Confidence
mitochondrion 3
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ICA1L Gene

Pathways & Interactions for ICA1L Gene

SuperPathways for ICA1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for ICA1L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ICA1L Gene

Transcripts for ICA1L Gene

Unigene Clusters for ICA1L Gene

Islet cell autoantigen 1,69kDa-like:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ICA1L Gene

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: -

Relevant External Links for ICA1L Gene

GeneLoc Exon Structure for
ICA1L
ECgene alternative splicing isoforms for
ICA1L

Expression for ICA1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ICA1L Gene

mRNA differential expression in normal tissues according to GTEx for ICA1L Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for ICA1L Gene

This gene is overexpressed in Plasma (60.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ICA1L Gene



Protein tissue co-expression partners for ICA1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ICA1L Gene:

ICA1L

SOURCE GeneReport for Unigene cluster for ICA1L Gene:

Hs.516629
genes like me logo Genes that share expression patterns with ICA1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ICA1L Gene

Orthologs for ICA1L Gene

This gene was present in the common ancestor of animals.

Orthologs for ICA1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ICA1L 34 35
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia ICA1L 34 35
  • 90.71 (n)
cow
(Bos Taurus)
Mammalia ICA1L 34 35
  • 88.63 (n)
mouse
(Mus musculus)
Mammalia Ica1l 34 16 35
  • 84.42 (n)
rat
(Rattus norvegicus)
Mammalia Ica1l 34
  • 83.56 (n)
oppossum
(Monodelphis domestica)
Mammalia ICA1L 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ICA1L 35
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ical1 34 35
  • 62.49 (n)
Dr.17431 34
fruit fly
(Drosophila melanogaster)
Insecta CG10566 34 35
  • 51.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006627 34
  • 51.09 (n)
worm
(Caenorhabditis elegans)
Secernentea ric-19 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9836 35
  • 28 (a)
OneToMany
Species where no ortholog for ICA1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 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)

Evolution for ICA1L Gene

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

Paralogs for ICA1L Gene

Paralogs for ICA1L Gene

genes like me logo Genes that share paralogs with ICA1L: view

Variants for ICA1L Gene

Sequence variations from dbSNP and Humsavar for ICA1L Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10048682 -- 202,836,174(+) tatta(C/T)gttga intron-variant
rs10170010 -- 202,858,777(+) GTTGC(C/G)TACGG intron-variant
rs10176634 -- 202,789,944(+) agtcc(C/G)caagc intron-variant
rs10176877 -- 202,789,979(+) aggaa(A/G)tcccc intron-variant
rs10178995 -- 202,836,834(+) agata(C/T)agata intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ICA1L Gene

Variant ID Type Subtype PubMed ID
dgv7253n54 CNV gain 21841781
nsv460020 CNV gain 19166990
nsv470510 CNV gain 18288195
nsv584182 CNV gain 21841781
nsv963763 CNV duplication 23825009
nsv963764 CNV duplication 23825009
nsv979168 CNV duplication 23825009

Variation tolerance for ICA1L Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.43; 42.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ICA1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ICA1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ICA1L Gene

Disorders for ICA1L Gene

Relevant External Links for ICA1L

Genetic Association Database (GAD)
ICA1L
Human Genome Epidemiology (HuGE) Navigator
ICA1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ICA1L

No disorders were found for ICA1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ICA1L Gene

Publications for ICA1L Gene

  1. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S. … Ikeda J.-E. (Nat. Genet. 2001) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ICA1L Gene

Sources for ICA1L Gene

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