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

Gene ID: 130026, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in brain (RPKM 3.9), testis (RPKM 2.5) and 22 other tissues See more
Orthologs
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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. 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
  3. 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
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

See all (17) 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_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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NDH6.1 GenPept UniProtKB/Swiss-Prot:Q8NDH6

Gene LinkOut

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