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THAP4 THAP domain containing 4 [ Homo sapiens (human) ]

Gene ID: 51078, updated on 27-Jun-2020

Summary

Official Symbol
THAP4provided by HGNC
Official Full Name
THAP domain containing 4provided by HGNC
Primary source
HGNC:HGNC:23187
See related
Ensembl:ENSG00000176946 MIM:612533
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
PP238; CGI-36; Nb(III)
Expression
Ubiquitous expression in testis (RPKM 14.3), heart (RPKM 13.9) and 25 other tissues See more
Orthologs

Genomic context

See THAP4 in Genome Data Viewer
Location:
2q37.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (241584405..241637543, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242523820..242576753, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373974 Neighboring gene BOK antisense RNA 1 Neighboring gene uncharacterized LOC105373975 Neighboring gene BCL2 family apoptosis regulator BOK Neighboring gene RNA, 5S ribosomal pseudogene 122 Neighboring gene autophagy related 4B cysteine peptidase Neighboring gene deoxythymidylate kinase

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

Phenotypes

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Voxelwise genome-wide association study (vGWAS).
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
heme binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nitric oxide binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
nitrate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
tyrosine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
peroxynitrite isomerase THAP4; THAP domain-containing protein 4
Names
epididymis secretory sperm binding protein
nitrobindin

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_001164356.1NP_001157828.1  peroxynitrite isomerase THAP4 isoform 2

    See identical proteins and their annotated locations for NP_001157828.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and represents the use of an alternate promoter, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF132970, BC069235
    Consensus CDS
    CCDS54440.1
    UniProtKB/Swiss-Prot
    Q8WY91
    Related
    ENSP00000385931.1, ENST00000402136.5
    Conserved Domains (1) summary
    cd07828
    Location:10162
    nitrobindin; nitrobindin heme-binding domain
  2. NM_015963.6NP_057047.4  peroxynitrite isomerase THAP4 isoform 1

    See identical proteins and their annotated locations for NP_057047.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC009439, BC069235
    Consensus CDS
    CCDS2551.1
    UniProtKB/Swiss-Prot
    Q8WY91
    Related
    ENSP00000385006.1, ENST00000407315.6
    Conserved Domains (3) summary
    pfam05485
    Location:486
    THAP; THAP domain
    pfam08768
    Location:422574
    DUF1794; Domain of unknown function (DUF1794)
    cl22422
    Location:312425
    SRP68-RBD; RNA-binding domain of signal recognition particle subunit 68

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    241584405..241637543 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247016.4XP_005247073.3  THAP domain-containing protein 4 isoform X1

  2. XM_011511291.2XP_011509593.1  THAP domain-containing protein 4 isoform X2

    Conserved Domains (2) summary
    pfam05485
    Location:50110
    THAP; THAP domain
    pfam08768
    Location:446625
    DUF1794; Domain of unknown function (DUF1794)
  3. XM_017004256.1XP_016859745.1  THAP domain-containing protein 4 isoform X3

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