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THG1L tRNA-histidine guanylyltransferase 1 like [ Homo sapiens (human) ]

Gene ID: 54974, updated on 15-Jun-2019

Summary

Official Symbol
THG1Lprovided by HGNC
Official Full Name
tRNA-histidine guanylyltransferase 1 likeprovided by HGNC
Primary source
HGNC:HGNC:26053
See related
Ensembl:ENSG00000113272
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ICF45; IHG-1; hTHG1
Summary
The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in thyroid (RPKM 4.1), colon (RPKM 3.8) and 25 other tissues See more
Orthologs

Genomic context

See THG1L in Genome Data Viewer
Location:
5q33.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (157731389..157741448)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (157158323..157166982)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377676 Neighboring gene SRY-box 30 pseudogene 1 Neighboring gene LSM11, U7 small nuclear RNA associated Neighboring gene clathrin interactor 1 Neighboring gene RNA, U6 small nuclear 260, pseudogene

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • tRNA modification in the nucleus and cytosol, organism-specific biosystem (from REACTOME)
    tRNA modification in the nucleus and cytosol, organism-specific biosystemAt least 92 distinct tRNA nucleotide base modifications have been found. The modifications are made post-transcriptionally by a large group of disparate enzymes located in the nucleus, cytosol, and m...
  • tRNA processing, organism-specific biosystem (from REACTOME)
    tRNA processing, organism-specific biosystemGenes encoding transfer RNAs (tRNAs) are transcribed by RNA polymerase III in the nucleus and by mitochondrial RNA polymerase in the mitochondrion.In the nucleus transcription reactions produce precu...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11601, FLJ20546

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
nucleotidyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tRNA binding TAS
Traceable Author Statement
more info
PubMed 
tRNA guanylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA guanylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
tRNA guanylyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
protein homotetramerization IPI
Inferred from Physical Interaction
more info
PubMed 
tRNA 5'-end processing IEA
Inferred from Electronic Annotation
more info
 
tRNA modification ISS
Inferred from Sequence or Structural Similarity
more info
 
tRNA modification TAS
Traceable Author Statement
more info
 
tRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
probable tRNA(His) guanylyltransferase
Names
induced by high glucose-1
interphase cytoplasmic foci protein 45
NP_001304753.1
NP_001304754.1
NP_001304755.1
NP_060342.2
XP_016865092.1

NCBI Reference Sequences (RefSeq)

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_001317824.2NP_001304753.1  probable tRNA(His) guanylyltransferase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC026407, AK304590, CA426270
    UniProtKB/Swiss-Prot
    Q9NWX6
    UniProtKB/TrEMBL
    B4E366
    Conserved Domains (1) summary
    pfam14413
    Location:35150
    Thg1C; Thg1 C terminal domain
  2. NM_001317825.2NP_001304754.1  probable tRNA(His) guanylyltransferase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC026407, AY463216, CA426270, DA874954
    UniProtKB/Swiss-Prot
    Q9NWX6
    UniProtKB/TrEMBL
    Q9H8R6
    Conserved Domains (2) summary
    pfam04446
    Location:139
    Thg1; tRNAHis guanylyltransferase
    pfam14413
    Location:42157
    Thg1C; Thg1 C terminal domain
  3. NM_001317826.2NP_001304755.1  probable tRNA(His) guanylyltransferase isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC026407, AY463216, CA426270, HY050784
    UniProtKB/Swiss-Prot
    Q9NWX6
    Conserved Domains (2) summary
    pfam04446
    Location:2102
    Thg1; tRNAHis guanylyltransferase
    pfam14413
    Location:105220
    Thg1C; Thg1 C terminal domain
  4. NM_017872.5NP_060342.2  probable tRNA(His) guanylyltransferase isoform 1

    See identical proteins and their annotated locations for NP_060342.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC026407, AY463216, CA426270
    Consensus CDS
    CCDS4341.1
    UniProtKB/Swiss-Prot
    Q9NWX6
    Related
    ENSP00000231198.7, ENST00000231198.12
    Conserved Domains (3) summary
    COG4021
    Location:31291
    Thg1; tRNA(His) 5'-end guanylyltransferase [Translation, ribosomal structure and biogenesis]
    pfam04446
    Location:38164
    Thg1; tRNAHis guanylyltransferase
    pfam14413
    Location:167282
    Thg1C; Thg1 C terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    157731420..157741449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009603.2XP_016865092.1  probable tRNA(His) guanylyltransferase isoform X1

    Conserved Domains (2) summary
    pfam04446
    Location:2102
    Thg1; tRNAHis guanylyltransferase
    pfam14413
    Location:105220
    Thg1C; Thg1 C terminal domain
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