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    IFI27L1 interferon alpha inducible protein 27 like 1 [ Homo sapiens (human) ]

    Gene ID: 122509, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IFI27L1provided by HGNC
    Official Full Name
    interferon alpha inducible protein 27 like 1provided by HGNC
    Primary source
    HGNC:HGNC:19754
    See related
    Ensembl:ENSG00000165948 MIM:611320; AllianceGenome:HGNC:19754
    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
    FAM14B; ISG12C
    Summary
    Involved in apoptotic process. Predicted to be located in membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 8.5), adrenal (RPKM 3.1) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See IFI27L1 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94081310..94102709)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88308627..88330026)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94547656..94569055)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903368 Neighboring gene coiled-coil domain containing 197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94482885-94483384 Neighboring gene Sharpr-MPRA regulatory region 4126 Neighboring gene OTU deubiquitinase, ubiquitin aldehyde binding 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94518750-94519679 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:94526511-94527710 Neighboring gene DEAD-box helicase 24 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:94576419-94577618 Neighboring gene interferon alpha inducible protein 27 Neighboring gene interferon alpha inducible protein 27 like 2

    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. Apoptotic properties of the type 1 interferon induced family of human mitochondrial membrane ISG12 proteins. Gytz H, et al. Biol Cell, 2017 Feb. PMID 27673746
    2. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. Polasek O, et al. Croat Med J, 2009 Feb. PMID 19260139, Free PMC Article
    3. Sequence organization and matrix attachment regions of the human serine protease inhibitor gene cluster at 14q32.1. Namciu SJ, et al. Mamm Genome, 2004 Mar. PMID 15014966
    4. Identification of a novel gene family that includes the interferon-inducible human genes 6-16 and ISG12. Parker N, et al. BMC Genomics, 2004 Jan 19. PMID 14728724, Free PMC Article
    5. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intrinsic apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in release of cytochrome c from mitochondria IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    interferon alpha-inducible protein 27-like protein 1
    Names
    ISG12(c) protein
    family with sequence similarity 14, member B
    interferon-stimulated gene 12c protein

    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_145249.3 → NP_660292.1  interferon alpha-inducible protein 27-like protein 1 precursor

      See identical proteins and their annotated locations for NP_660292.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL079302, BC015423, DA693965
      Consensus CDS
      CCDS9919.1
      UniProtKB/Swiss-Prot
      Q96BM0
      UniProtKB/TrEMBL
      G3V460
      Related
      ENSP00000376824.3, ENST00000393115.7
      Conserved Domains (1) summary
      pfam06140
      Location:31 → 96
      Ifi-6-16; Interferon-induced 6-16 family

    2. NM_206949.3 → NP_996832.1  interferon alpha-inducible protein 27-like protein 1 precursor

      See identical proteins and their annotated locations for NP_996832.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BN000225, BU739372, DA693965
      Consensus CDS
      CCDS9919.1
      UniProtKB/Swiss-Prot
      Q96BM0
      UniProtKB/TrEMBL
      G3V460
      Related
      ENSP00000451851.1, ENST00000555523.6
      Conserved Domains (1) summary
      pfam06140
      Location:31 → 96
      Ifi-6-16; Interferon-induced 6-16 family

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      94081310..94102709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1195872..1217271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      88308627..88330026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BM0.1 GenPept UniProtKB/Swiss-Prot:Q96BM0

    Gene LinkOut

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

    Chemical Information
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