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

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; AllianceGenome:HGNC:23187
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)
Summary: Enables several functions, including heme binding activity; nitric oxide binding activity; and peroxynitrite isomerase activity. Involved in nitrate metabolic process and tyrosine metabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 14.3), heart (RPKM 13.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (241584405..241637576, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (242084274..242140900, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (242523820..242576573, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A003A42 (e-PCR)
- UniSTS:63281

D2S2817 (e-PCR)
- UniSTS:48852

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables heme binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nitric oxide binding	IDA Inferred from Direct Assay more info	PubMed
enables peroxynitrite isomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in nitrate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in tyrosine metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: peroxynitrite isomerase THAP4

Names: THAP domain-containing protein 4; epididymis secretory sperm binding protein; ferric Homo sapiens nitrobindin; hs-Nb(III); nitrobindin

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)

NM_001164356.2 → NP_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/TrEMBL

B5MCC0

Related

ENSP00000385931.1, ENST00000402136.5

Conserved Domains (1) summary

cd07828
Location:10 → 163

lipocalin_heme-bd-THAP4-like; heme-binding beta-barrel domain of human THAP4, Arabidopsis thaliana nitrobindin, and similar proteins
NM_015963.6 → NP_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

Q53NU7, Q6GRN0, Q6IPJ3, Q8WY91, Q9NW26, Q9Y325

Related

ENSP00000385006.1, ENST00000407315.6

Conserved Domains (3) summary

pfam05485
Location:4 → 86

THAP; THAP domain

pfam08768
Location:422 → 574

DUF1794; Domain of unknown function (DUF1794)

cl22422
Location:312 → 425

SRP68-RBD; RNA-binding domain of signal recognition particle subunit 68

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

241584405..241637576 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017004256.2 → XP_016859745.1 peroxynitrite isomerase THAP4 isoform X3
XM_011511291.3 → XP_011509593.1 peroxynitrite isomerase THAP4 isoform X2

Conserved Domains (2) summary

pfam05485
Location:50 → 110

THAP; THAP domain

pfam08768
Location:446 → 625

DUF1794; Domain of unknown function (DUF1794)
XM_005247016.5 → XP_005247073.4 peroxynitrite isomerase THAP4 isoform X1