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

Gene ID: 130026, updated on 11-Jun-2021

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
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
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

See ICA1L in Genome Data Viewer
Location:
2q33.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (202773176..202871766, complement)
105.20201022 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 MT-CO1 pseudogene 54 Neighboring gene family with sequence similarity 117 member B Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Y pseudogene Neighboring gene keratin 8 pseudogene 15 Neighboring gene WD repeat domain 12 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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_001288622.3NP_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
    Q8NDH6
    UniProtKB/TrEMBL
    A0A024R3W3
    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
    Q8NDH6
    UniProtKB/TrEMBL
    A0A024R3W3, Q96Q33
    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/Swiss-Prot
    Q8NDH6
    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
    Q8NDH6
    UniProtKB/TrEMBL
    A0A024R3W3
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    202773176..202871766 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.
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