MEIOB meiosis specific with OB-fold [Homo sapiens (human)] - Gene

Summary

Official Symbol: MEIOBprovided by HGNC
Official Full Name: meiosis specific with OB-foldprovided by HGNC
Primary source: HGNC:HGNC:28569
See related: Ensembl:ENSG00000162039 MIM:617670; AllianceGenome:HGNC:28569
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: POF23; gs129; SPGF22; C16orf73
Summary: Predicted to enable chromatin binding activity; single-stranded DNA 3'-5' DNA exonuclease activity; and single-stranded DNA binding activity. Predicted to be involved in double-strand break repair via homologous recombination; fertilization; and meiotic nuclear division. Located in nucleus. Implicated in primary ovarian insufficiency and spermatogenic failure 22. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 20.3) See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1833986..1872164, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1849860..1889999, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1883987..1922165, complement)

Chromosome 16 - NC_000016.10 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: 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?

Nuclear localization of human MEIOB requires its NLS in the OB domain and interaction with SPATA22.
Title: Nuclear localization of human MEIOB requires its NLS in the OB domain and interaction with SPATA22.
The cancer-testis gene, MEIOB, sensitizes triple-negative breast cancer to PARP1 inhibitors by inducing homologous recombination deficiency.
Title: The cancer-testis gene, MEIOB, sensitizes triple-negative breast cancer to PARP1 inhibitors by inducing homologous recombination deficiency.
Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.
Title: Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.
The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex.
Title: The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex.
The ssDNA-binding protein MEIOB acts as a dosage-sensitive regulator of meiotic recombination.
Title: The ssDNA-binding protein MEIOB acts as a dosage-sensitive regulator of meiotic recombination.
MEIOB is the major, and most likely also the exclusive, contributor of the testicular pathology found in the seven non-obstructive azoospermia patients across two studies.
Title: A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest.
This truncating MEIOB variant is expected to provoke meiotic defects and a depleted follicular stock, as in Meiob(-/-) mice. This is the first molecular defect reported in a meiosis-specific single-stranded DNA-binding protein (SSB) responsible for POI.
Title: A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks.
MEIOB interacts with RPA and SPATA22.
Title: MEIOB exhibits single-stranded DNA-binding and exonuclease activities and is essential for meiotic recombination.
we propose that RPA and this new single-strand DNA binding protein MEIOB, are essential to ensure the proper stabilization of recombinases which is required for successful homology search and meiotic recombination.
Title: MEIOB targets single-strand DNA and is necessary for meiotic recombination.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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

Associated conditions

Description	Tests
Premature ovarian failure 23 MedGen: C5882747 OMIM: 620686 GeneReviews: Not available	not available
Spermatogenic failure 22 MedGen: C4540179 OMIM: 617706 GeneReviews: Not available	not available

Variation

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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 chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA 3'-5' DNA exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA 3'-5' DNA exonuclease activity	ISS Inferred from Sequence or Structural Similarity more info
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in female meiosis I	ISS Inferred from Sequence or Structural Similarity more info
involved_in fertilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in homologous chromosome pairing at meiosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in male meiosis I	IEA Inferred from Electronic Annotation more info
involved_in male meiotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in resolution of meiotic recombination intermediates	IBA Inferred from Biological aspect of Ancestor more info
involved_in resolution of meiotic recombination intermediates	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: meiosis-specific with OB domain-containing protein

Names: meiosis specific with OB domains

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_001163560.3 → NP_001157032.1 meiosis-specific with OB domain-containing protein isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

AL031722, AL499628

Consensus CDS

CCDS53983.1

UniProtKB/Swiss-Prot

Q8N635

Related

ENSP00000314484.3, ENST00000325962.9

Conserved Domains (2) summary

cd04475
Location:167 → 270

RPA1_DBD_B; RPA1_DBD_B: A subfamily of OB folds corresponding to the third OB fold, the ssDNA-binding domain (DBD)-B, of human RPA1 (also called RPA70). RPA1 is the large subunit of Replication protein A (RPA). RPA is a nuclear ssDNA-binding protein (SSB) which ...

cl09930
Location:345 → 421

RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
NM_152764.3 → NP_689977.2 meiosis-specific with OB domain-containing protein isoform 2

See identical proteins and their annotated locations for NP_689977.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment near the C-terminus, compared to isoform 1.

Source sequence(s)

AL031722, AL499628, BC029829, CD300613, DB461414

Consensus CDS

CCDS10449.2

UniProtKB/Swiss-Prot

B1AK39, C9J0S1, Q8N635, Q96RY0

Related

ENSP00000380504.3, ENST00000397344.7

Conserved Domains (1) summary

cd04475
Location:167 → 270

RPA1_DBD_B; RPA1_DBD_B: A subfamily of OB folds corresponding to the third OB fold, the ssDNA-binding domain (DBD)-B, of human RPA1 (also called RPA70). RPA1 is the large subunit of Replication protein A (RPA). RPA is a nuclear ssDNA-binding protein (SSB) which ...