ADPRHL1 ADP-ribosylhydrolase like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADPRHL1provided by HGNC
Official Full Name: ADP-ribosylhydrolase like 1provided by HGNC
Primary source: HGNC:HGNC:21303
See related: Ensembl:ENSG00000153531 MIM:610620; AllianceGenome:HGNC:21303
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: ARH2
Summary: ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in heart (RPKM 98.4) and prostate (RPKM 3.2) See more
Orthologs: mouse all
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Genomic context

Location:: 13q34

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (113399610..113453488, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (112655703..112712331, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (114053925..114107803, complement)

Chromosome 13 - NC_000013.11 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?

The pseudoenzyme ADPRHL1 affects cardiac function by regulating the ROCK pathway.
Title: The pseudoenzyme ADPRHL1 affects cardiac function by regulating the ROCK pathway.
Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene.
Title: Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene.
Hybrid human-Xenopus Adprhl1 protein constructs were produced by utilizing restriction sites from one species and engineering the same site into the second species by PCR. Hearts containing human ADPRHL1 developed normally. Engineered human-Xenopus hybrid proteins cause extensive branching of myofibrils with sarcomere division occurring at the actin-Z-disc boundary.
Title: The cardiac-restricted protein ADP-ribosylhydrolase-like 1 is essential for heart chamber outgrowth and acts on muscle actin filament assembly.

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP-ribosylarginine hydrolase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cardiac chamber ballooning	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac myofibril assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein de-ADP-ribosylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in sarcomere	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: inactive ADP-ribosyltransferase ARH2

Names: ADP-ribosyl-hydrolase; ADP-ribosylarginine hydrolase like 1; ADP-ribosylhydrolase 2; ADP-ribosylhydrolase-like protein 1; [Protein ADP-ribosylarginine] hydrolase-like protein 1

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_001304433.1 → NP_001291362.1 inactive ADP-ribosyltransferase ARH2 isoform 3

See identical proteins and their annotated locations for NP_001291362.1

Status: VALIDATED

Description

Transcript Variant: Variants 3 and 4 encode the same isoform (3).

Source sequence(s)

AL160251, BC036906, Z28716

Consensus CDS

CCDS91840.1

UniProtKB/TrEMBL

A0A804HI13

Conserved Domains (3) summary

PTZ00121
Location:1239 → 1444

PTZ00121; MAEBL; Provisional

PRK07764
Location:748 → 1142

PRK07764; DNA polymerase III subunits gamma and tau; Validated

pfam03157
Location:1123 → 1547

Glutenin_hmw; High molecular weight glutenin subunit
NM_001375393.1 → NP_001362322.1 inactive ADP-ribosyltransferase ARH2 isoform 3

Status: VALIDATED

Description

Transcript Variant: Variants 3 and 4 encode the same isoform (3).

Source sequence(s)

AL160251

Consensus CDS

CCDS91840.1

UniProtKB/TrEMBL

A0A804HI13

Related

ENSP00000506851.1, ENST00000682618.1

Conserved Domains (3) summary

PTZ00121
Location:1239 → 1444

PTZ00121; MAEBL; Provisional

PRK07764
Location:748 → 1142

PRK07764; DNA polymerase III subunits gamma and tau; Validated

pfam03157
Location:1123 → 1547

Glutenin_hmw; High molecular weight glutenin subunit
NM_001394807.1 → NP_001381736.1 inactive ADP-ribosyltransferase ARH2 isoform 4

Status: VALIDATED

Source sequence(s)

AL160251

Consensus CDS

CCDS91841.1

UniProtKB/TrEMBL

A0A0U1RQK4

Related

ENSP00000489048.1, ENST00000612156.3

Conserved Domains (4) summary

PRK07764
Location:1112 → 1506

PRK07764; DNA polymerase III subunits gamma and tau; Validated

PRK09510
Location:1605 → 1770

tolA; cell envelope integrity inner membrane protein TolA; Provisional

pfam03157
Location:1479 → 1911

Glutenin_hmw; High molecular weight glutenin subunit

cl00614
Location:2 → 349

ADP_ribosyl_GH; ADP-ribosylglycohydrolase
NM_138430.5 → NP_612439.2 inactive ADP-ribosyltransferase ARH2 isoform 1

See identical proteins and their annotated locations for NP_612439.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AJ313429, BC009755

Consensus CDS

CCDS9535.1

UniProtKB/Swiss-Prot

Q5JUG2, Q8NDY3, Q96GD1

Related

ENSP00000364567.3, ENST00000375418.8

Conserved Domains (1) summary

pfam03747
Location:6 → 327

ADP_ribosyl_GH; ADP-ribosylglycohydrolase
NM_199162.3 → NP_954631.1 inactive ADP-ribosyltransferase ARH2 isoform 2

See identical proteins and their annotated locations for NP_954631.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation at an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AL160251, BC009755

Consensus CDS

CCDS9536.1

UniProtKB/Swiss-Prot

Q8NDY3

Related

ENSP00000348894.4, ENST00000356501.8

Conserved Domains (1) summary

pfam03747
Location:35 → 245

ADP_ribosyl_GH; ADP-ribosylglycohydrolase

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_000013.11 Reference GRCh38.p14 Primary Assembly

Range

113399610..113453488 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430086.1 → XP_047286042.1 inactive ADP-ribosyltransferase ARH2 isoform X1
XM_011537461.3 → XP_011535763.1 inactive ADP-ribosyltransferase ARH2 isoform X2

See identical proteins and their annotated locations for XP_011535763.1

UniProtKB/TrEMBL

A0A804HI13

Conserved Domains (3) summary

PTZ00121
Location:1239 → 1444

PTZ00121; MAEBL; Provisional

PRK07764
Location:748 → 1142

PRK07764; DNA polymerase III subunits gamma and tau; Validated

pfam03157
Location:1123 → 1547

Glutenin_hmw; High molecular weight glutenin subunit

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

112655703..112712331 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374091.1 → XP_054230066.1 inactive ADP-ribosyltransferase ARH2 isoform X1
XM_054374092.1 → XP_054230067.1 inactive ADP-ribosyltransferase ARH2 isoform X2

UniProtKB/TrEMBL

A0A804HI13

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001003399.1: Suppressed sequence

Description

NM_001003399.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.