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

    Gene ID: 130026, updated on 17-Jun-2024

    Summary

    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, Apr 2022]
    Expression
    Broad expression in brain (RPKM 3.9), testis (RPKM 2.5) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ICA1L in Genome Data Viewer
    Location:
    2q33.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (202773176..202871766, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (203254630..203353223, complement)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001288622.3NP_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:46248
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:254482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    2. NM_001288623.2NP_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:46248
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:254482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    3. NM_001288624.2NP_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:46187
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    4. NM_138468.7NP_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:46248
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:254482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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.