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THAP5 THAP domain containing 5 [ Homo sapiens (human) ]

Gene ID: 168451, updated on 23-Nov-2021

Summary

Official Symbol
THAP5provided by HGNC
Official Full Name
THAP domain containing 5provided by HGNC
Primary source
HGNC:HGNC:23188
See related
Ensembl:ENSG00000177683 MIM:612534
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
Expression
Ubiquitous expression in thyroid (RPKM 13.7), testis (RPKM 10.7) and 25 other tissues See more
Orthologs
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Genomic context

See THAP5 in Genome Data Viewer
Location:
7q31.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (108562132..108569768, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (108202576..108210212, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene neuronal cell adhesion molecule Neighboring gene Sharpr-MPRA regulatory region 14594 Neighboring gene patatin like phospholipase domain containing 8 Neighboring gene ribosomal protein L7 pseudogene 32 Neighboring gene uncharacterized LOC105375448 Neighboring gene DnaJ heat shock protein family (Hsp40) member B9

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp313O1132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
THAP domain-containing protein 5

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_001130475.3NP_001123947.1  THAP domain-containing protein 5 isoform 1

    See identical proteins and their annotated locations for NP_001123947.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC005058, AL833137
    Consensus CDS
    CCDS47687.1
    UniProtKB/Swiss-Prot
    Q7Z6K1
    Related
    ENSP00000400500.2, ENST00000415914.4
    Conserved Domains (2) summary
    smart00980
    Location:485
    THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion
    cl23720
    Location:315373
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. NM_001287598.1NP_001274527.1  THAP domain-containing protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001274527.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3, 4 and 5 encode the same isoform (3), which is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC005058, BC053634, BU567660
    UniProtKB/Swiss-Prot
    Q7Z6K1
  3. NM_001287599.1NP_001274528.1  THAP domain-containing protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001274528.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3, 4 and 5 encode the same isoform (3), which is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC005058, BF244164, BI830307
    UniProtKB/Swiss-Prot
    Q7Z6K1
  4. NM_001287601.1NP_001274530.1  THAP domain-containing protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001274530.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks an alternate exon in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3, 4 and 5 encode the same isoform (3), which is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC005058, AW407519, BC053634, BI830307
    UniProtKB/Swiss-Prot
    Q7Z6K1
  5. NM_182529.3NP_872335.2  THAP domain-containing protein 5 isoform 2

    See identical proteins and their annotated locations for NP_872335.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC005058, BC053634, BU567660
    Consensus CDS
    CCDS34734.2
    UniProtKB/Swiss-Prot
    Q7Z6K1
    Related
    ENSP00000322440.5, ENST00000313516.5
    Conserved Domains (2) summary
    pfam05485
    Location:143
    THAP; THAP domain
    cl23720
    Location:273331
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    108562132..108569768 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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