PRADC1 protease associated domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRADC1provided by HGNC
Official Full Name: protease associated domain containing 1provided by HGNC
Primary source: HGNC:HGNC:16047
See related: Ensembl:ENSG00000135617 MIM:619674; AllianceGenome:HGNC:16047
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: PAP21; C2orf7
Summary: Located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart (RPKM 23.7), fat (RPKM 12.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (73228006..73233284, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (73240995..73246273, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (73455134..73460412, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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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

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

RH103262 (e-PCR)
- UniSTS:97594

RH68102 (e-PCR)
- UniSTS:26789

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protease-associated domain-containing protein 1

Names: protease-associated domain-containing glycoprotein 21 kDa; protease-associated domain-containing protein of 21 kDa

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_032319.3 → NP_115695.1 protease-associated domain-containing protein 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer, protein-coding variant.

Source sequence(s)

BC005069, BM556790

Consensus CDS

CCDS1924.1

UniProtKB/Swiss-Prot

Q2Z1P2, Q9BSG0

Related

ENSP00000258083.2, ENST00000258083.3

Conserved Domains (1) summary

cd02127
Location:51 → 168

PA_hPAP21_like; Protease-associated domain containing proteins like the human secreted glycoprotein hPAP21 (human protease-associated domain-containing protein, 21kDa). This group contains various PA domain-containing proteins similar to hPAP21. Complex N-glycosylation ...

RNA

NR_144358.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC010913