MPND MPN domain containing [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPNDprovided by HGNC
Official Full Name: MPN domain containingprovided by HGNC
Primary source: HGNC:HGNC:25934
See related: Ensembl:ENSG00000008382 AllianceGenome:HGNC:25934
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
Summary: Predicted to enable metallopeptidase activity and polyubiquitin modification-dependent protein binding activity. Predicted to be involved in double-strand break repair. Predicted to be part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in colon (RPKM 12.4), duodenum (RPKM 11.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (4343562..4360078)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (4327019..4343527)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (4343559..4360075)

Chromosome 19 - NC_000019.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metal-dependent deubiquitinase activity	IEA Inferred from Electronic Annotation more info
enables metallopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BRISC complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: MPN domain-containing protein

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_001159846.3 → NP_001153318.1 MPN domain-containing protein isoform 2

See identical proteins and their annotated locations for NP_001153318.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two consecutive alternate exons in the 3' coding region, compared to variant 3. It encodes isoform 2, which lacks an internal in-frame segment and is shorter, compared to isoform 3.

Source sequence(s)

AC007292

Consensus CDS

CCDS54200.1

UniProtKB/TrEMBL

M0R0F2

Related

ENSP00000353015.3, ENST00000359935.8

Conserved Domains (2) summary

pfam18755
Location:72 → 167

RAMA; Restriction Enzyme Adenine Methylase Associated

cl13996
Location:266 → 400

MPN; Mpr1p, Pad1p N-terminal (MPN) domains
NM_001300862.2 → NP_001287791.1 MPN domain-containing protein isoform 3

See identical proteins and their annotated locations for NP_001287791.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

AC007292

Consensus CDS

CCDS74261.1

UniProtKB/TrEMBL

M0R0F2, W4VSR2

Related

ENSP00000471735.1, ENST00000599840.6

Conserved Domains (1) summary

cd08067
Location:266 → 450

MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase
NM_032868.6 → NP_116257.2 MPN domain-containing protein isoform 1

See identical proteins and their annotated locations for NP_116257.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. It encodes isoform 1, which lacks an internal segment and is shorter, compared to isoform 3.

Source sequence(s)

AC007292

Consensus CDS

CCDS42470.1

UniProtKB/Swiss-Prot

Q8N594, Q96SJ0, Q9Y2P1, Q9Y2P2

UniProtKB/TrEMBL

M0R189

Related

ENSP00000262966.7, ENST00000262966.12

Conserved Domains (1) summary

cd08067
Location:266 → 443

MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

4343562..4360078

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722926.3 → XP_006722989.1 MPN domain-containing protein isoform X1

UniProtKB/TrEMBL

M0R0F2

Related

ENSP00000471189.1, ENST00000597036.5

Conserved Domains (1) summary

cd08067
Location:266 → 421

MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase