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    ICA1L islet cell autoantigen 1 like [ Homo sapiens (human) ]

    Gene ID: 130026, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ICA1Lprovided by HGNC
    Official Full Name
    islet cell autoantigen 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:14442
    See related
    Ensembl:ENSG00000163596 AllianceGenome:HGNC:14442
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALS2CR14; ALS2CR15
    Summary
    Predicted to enable protein domain specific binding activity. Predicted to be involved in regulation of transport. Predicted to act upstream of or within spermatid development. Predicted to be located in acrosomal vesicle. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 3.9), testis (RPKM 2.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ICA1L in Genome Data Viewer
    Location:
    2q33.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (202773176..202871766, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (203254630..203353223, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (203637899..203736489, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12248 Neighboring gene MT-CO1 pseudogene 54 Neighboring gene family with sequence similarity 117 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17003 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:203579150-203579831 Neighboring gene MPRA-validated peak4017 silencer Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Y pseudogene Neighboring gene keratin 8 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12251 Neighboring gene WD repeat domain 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17007 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:203790595-203791095 Neighboring gene keratin 8 pseudogene 52 Neighboring gene calcium responsive transcription factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ICA1L Is Associated with Small Vessel Disease: A Proteome-Wide Association Study in Small Vessel Stroke and Intracerebral Haemorrhage. Cullell N, et al. Int J Mol Sci, 2022 Mar 15. PMID 35328582, Free PMC Article
    2. ICA1L forms BAR-domain complexes with PICK1 and is crucial for acrosome formation in spermiogenesis. He J, et al. J Cell Sci, 2015 Oct 15. PMID 26306493
    3. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Hadano S, et al. Nat Genet, 2001 Oct. PMID 11586298
    4. Cytoplasmic Metadherin (MTDH) provides survival advantage under conditions of stress by acting as RNA-binding protein. Meng X, et al. J Biol Chem, 2012 Feb 10. PMID 22199357, Free PMC Article
    5. Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. Mihalič F, et al. Nat Commun, 2023 Sep 13. PMID 37704626, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ICA1L Is Associated with Small Vessel Disease: A Proteome-Wide Association Study in Small Vessel Stroke and Intracerebral Haemorrhage.
      Title: ICA1L Is Associated with Small Vessel Disease: A Proteome-Wide Association Study in Small Vessel Stroke and Intracerebral Haemorrhage.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138440, DKFZp434E1919

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    islet cell autoantigen 1-like protein
    Names
    Ica69-related protein
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 14 protein
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein
    islet cell autoantigen 1,69kDa-like

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001288622.3 → NP_001275551.1  islet cell autoantigen 1-like protein isoform 1

      See identical proteins and their annotated locations for NP_001275551.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks a 5' non-coding exon, therefore, has a shorter 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AC098831, AK092310, AK124756, AL833904, BC063876
      Consensus CDS
      CCDS2354.1
      UniProtKB/Swiss-Prot
      B3KRW6, Q53P45, Q53QZ4, Q53T97, Q8NDH6, Q96N47, Q96Q32, Q9BVQ2
      UniProtKB/TrEMBL
      F8WBQ1
      Related
      ENSP00000351047.2, ENST00000358299.7
      Conserved Domains (2) summary
      cd07661
      Location:46 → 248
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:254 → 482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    2. NM_001288623.2 → NP_001275552.1  islet cell autoantigen 1-like protein isoform 1

      See identical proteins and their annotated locations for NP_001275552.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AB053316, AC010900, AC098831, AK055978, AK124756, AL833904, BC063876, DB496884
      Consensus CDS
      CCDS2354.1
      UniProtKB/Swiss-Prot
      B3KRW6, Q53P45, Q53QZ4, Q53T97, Q8NDH6, Q96N47, Q96Q32, Q9BVQ2
      UniProtKB/TrEMBL
      F8WBQ1
      Related
      ENSP00000478645.1, ENST00000617388.4
      Conserved Domains (2) summary
      cd07661
      Location:46 → 248
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:254 → 482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    3. NM_001288624.2 → NP_001275553.1  islet cell autoantigen 1-like protein isoform 3

      See identical proteins and their annotated locations for NP_001275553.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs at the 5' and 3' ends, however, uses the same translation initiation codon but terminates at an alternate stop codon compared to variant 1. The resulting shorter isoform (3) has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC000993
      Consensus CDS
      CCDS74632.1
      UniProtKB/TrEMBL
      C9JAQ4
      Related
      ENSP00000404189.1, ENST00000425178.5
      Conserved Domains (1) summary
      cl12013
      Location:46 → 187
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    4. NM_138468.7 → NP_612477.3  islet cell autoantigen 1-like protein isoform 1

      See identical proteins and their annotated locations for NP_612477.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 3 and 4 encode the same isoform.
      Source sequence(s)
      AC098831, AK092310, AK124756, AL833904, BC063876
      Consensus CDS
      CCDS2354.1
      UniProtKB/Swiss-Prot
      B3KRW6, Q53P45, Q53QZ4, Q53T97, Q8NDH6, Q96N47, Q96Q32, Q9BVQ2
      UniProtKB/TrEMBL
      F8WBQ1
      Related
      ENSP00000376070.2, ENST00000392237.6
      Conserved Domains (2) summary
      cd07661
      Location:46 → 248
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:254 → 482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      202773176..202871766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      203254630..203353223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178231.2: Suppressed sequence

      Description
      NM_178231.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NDH6.1 GenPept UniProtKB/Swiss-Prot:Q8NDH6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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