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TIGD6 tigger transposable element derived 6 [ Homo sapiens (human) ]

Gene ID: 81789, updated on 17-Sep-2024

Summary

Official Symbol
TIGD6provided by HGNC
Official Full Name
tigger transposable element derived 6provided by HGNC
Primary source
HGNC:HGNC:18332
See related
Ensembl:ENSG00000164296 AllianceGenome:HGNC:18332
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
Summary
The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in prostate (RPKM 1.9), testis (RPKM 1.8) and 25 other tissues See more
Orthologs
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Genomic context

See TIGD6 in Genome Data Viewer
Location:
5q32
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (149993118..150000654, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150529664..150537200, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149372681..149380217, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 6A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149318171-149318672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149318673-149319172 Neighboring gene Sharpr-MPRA regulatory region 12514 Neighboring gene MFF pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr5:149338737-149339340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16504 Neighboring gene solute carrier family 26 member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23393 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:149379441-149380229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23394 Neighboring gene HMG-box containing 3 Neighboring gene small nucleolar RNA U13 Neighboring gene ribosomal protein S20 pseudogene 4

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-02-03)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2021-02-03)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp761E2110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
tigger transposable element-derived protein 6

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_001243253.2NP_001230182.1  tigger transposable element-derived protein 6 isoform 1

    See identical proteins and their annotated locations for NP_001230182.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. This variant represents the allele encoded by the GRCh38 reference genome and encodes isoform (1). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC011406, AL136539, BC033641
    Consensus CDS
    CCDS4301.1
    UniProtKB/Swiss-Prot
    B3KTZ8, Q17RP2, Q96MQ4, Q9H0X7
    Related
    ENSP00000425318.2, ENST00000515406.2
    Conserved Domains (4) summary
    COG2963
    Location:557
    InsE; Transposase and inactivated derivatives [Mobilome: prophages, transposons]
    pfam03221
    Location:75134
    HTH_Tnp_Tc5; Tc5 transposase DNA-binding domain
    cl21459
    Location:754
    HTH; Helix-turn-helix domains
    cl21549
    Location:207372
    rve; Integrase core domain
  2. NM_001412170.1NP_001399099.1  tigger transposable element-derived protein 6 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses the same splicing as variant 1 but represents the allele encoded by the T2T genome assembly. The encoded isoform (2) is shorter and has a frameshifted C-terminus compared to isoform 1.
    Source sequence(s)
    CP068273
  3. NM_001412171.1NP_001399100.1  tigger transposable element-derived protein 6 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses the same splicing as variant 1 but represents the allele encoded by the T2T genome assembly. The encoded isoform (2) is shorter and has a frameshifted C-terminus compared to isoform 1.
    Source sequence(s)
    CP068273
  4. NM_001412172.1NP_001399101.1  tigger transposable element-derived protein 6 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) represents the allele encoded by the GRCh38 reference genome and encodes isoform (1).
    Source sequence(s)
    AC011406
    UniProtKB/Swiss-Prot
    B3KTZ8, Q17RP2, Q96MQ4, Q9H0X7
  5. NM_001412173.1NP_001399102.1  tigger transposable element-derived protein 6 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses the same splicing as variant 5 but represents the allele encoded by the T2T genome assembly. The encoded isoform (2) is shorter and has a frameshifted C-terminus compared to isoform 1.
    Source sequence(s)
    CP068273
  6. NM_030953.4NP_112215.1  tigger transposable element-derived protein 6 isoform 1

    See identical proteins and their annotated locations for NP_112215.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the allele encoded by the GRCh38 reference genome and encodes isoform (1). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC011406, AK096325, AL136539
    Consensus CDS
    CCDS4301.1
    UniProtKB/Swiss-Prot
    B3KTZ8, Q17RP2, Q96MQ4, Q9H0X7
    Related
    ENSP00000296736.3, ENST00000296736.4
    Conserved Domains (4) summary
    COG2963
    Location:557
    InsE; Transposase and inactivated derivatives [Mobilome: prophages, transposons]
    pfam03221
    Location:75134
    HTH_Tnp_Tc5; Tc5 transposase DNA-binding domain
    cl21459
    Location:754
    HTH; Helix-turn-helix domains
    cl21549
    Location:207372
    rve; Integrase core domain

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    149993118..150000654 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    150529664..150537200 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)