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

Gene ID: 122509, updated on 2-Nov-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, Nov 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 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)

Genotypes

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
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
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

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Chemical Information
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