NABP2 nucleic acid binding protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NABP2provided by HGNC
Official Full Name: nucleic acid binding protein 2provided by HGNC
Primary source: HGNC:HGNC:28412
See related: Ensembl:ENSG00000139579 MIM:612104; AllianceGenome:HGNC:28412
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: SSB1; hSSB1; OBFC2B; SOSS-B1
Summary: Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]
Expression: Ubiquitous expression in brain (RPKM 8.5), adrenal (RPKM 8.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56222015..56229854)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56191961..56197479)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56618126..56623638)

Chromosome 12 - NC_000012.12 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
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?

Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5.
Title: Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5.
findings demonstrate a novel hSSB1 regulatory mechanism for the repair of damaged DNA
Title: hSSB1 (NABP2/OBFC2B) is regulated by oxidative stress.
Our data highlights that BLM helicase and hSSB1 function in a dynamic complex in cells and that this complex is likely required for BLM protein stability and function.
Title: hSSB1 associates with and promotes stability of the BLM helicase.
the detailed molecular mechanism in solution of ssDNA binding by hSSB1, a major player in the maintenance of genomic stability, is reported.
Title: A structural analysis of DNA binding by hSSB1 (NABP2/OBFC2B) in solution.
In the absence of hSSB1, human 8-oxoguanine glycosylase 1 does not localize to chromatin, resulting in the accumulation of 8-oxoguanine in the genome.
Title: hSSB1 (NABP2/ OBFC2B) is required for the repair of 8-oxo-guanine by the hOGG1-mediated base excision repair pathway.
The findings demonstrate the importance of hSSB1 in maintaining and repairing DNA replication forks and for overall genomic stability.
Title: Human single-stranded DNA binding protein 1 (hSSB1/NABP2) is required for the stability and repair of stalled replication forks.
Identification of EEf1E1 and OBFC2B as novel BRCA1-partner genes in the DNA double-strand break repair pathway.
Title: Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.
SOSS complexes, containing SSB1, do not localize with Replication Protein A (RPA) to replication sites in human cells, yet have a strong effect on double-strand break resection and homologous recombination.
Title: The SOSS1 single-stranded DNA binding complex promotes DNA end resection in concert with Exo1.
hSSB1 and hSSB2 form two separate complexes with similar structures, and both complexes participate in DNA damage response.
Title: HSSB1 and hSSB2 form similar multiprotein complexes that participate in DNA damage response.
INTS3 controls the SSB1-mediated DNA damage response.
Title: INTS3 controls the hSSB1-mediated DNA damage response.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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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Homology

Homologs of the NABP2 gene: The NABP2 gene is conserved in dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 267 organisms have orthologs with human gene NABP2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables C-rich strand telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA polymerase binding	IPI Inferred from Physical Interaction more info	PubMed
enables G-rich strand telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to DNA damage stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization to telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2/M transition checkpoint	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic G2/M transition checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of telomere capping	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of telomerase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ionizing radiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of SOSS complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of SOSS complex	IDA Inferred from Direct Assay more info	PubMed
part_of SOSS complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: SOSS complex subunit B1

Names: LP3587; oligonucleotide/oligosaccharide-binding fold containing 2B; oligonucleotide/oligosaccharide-binding fold-containing protein 2B; sensor of single-strand DNA complex subunit B1; sensor of ssDNA subunit B1; single strand DNA-binding protein 1; single-stranded DNA-binding 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_024068.4 → NP_076973.1 SOSS complex subunit B1

See identical proteins and their annotated locations for NP_076973.1

Status: VALIDATED

Source sequence(s)

AI038029, BC006171, BG697807

Consensus CDS

CCDS8911.1

UniProtKB/Swiss-Prot

Q6XYC8, Q9BQ15

UniProtKB/TrEMBL

A0A024RB89

Related

ENSP00000267023.4, ENST00000267023.9

Conserved Domains (2) summary

PRK14971
Location:106 → 153

PRK14971; DNA polymerase III subunit gamma/tau

cd04491
Location:18 → 95

SoSSB_OBF; A subfamily of OB folds similar to the OB fold of the crenarchaeote Sulfolobus solfataricus single-stranded (ss) DNA-binding protein (SSoSSB). SSoSSB has a single OB fold, and it physically and functionally interacts with RNA polymerase. In vitro, SSoSSB ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

56222015..56229854

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429533.1 → XP_047285489.1 SOSS complex subunit B1 isoform X3

UniProtKB/Swiss-Prot

Q6XYC8

UniProtKB/TrEMBL

A0A024RB89
XM_005269149.6 → XP_005269206.1 SOSS complex subunit B1 isoform X3

See identical proteins and their annotated locations for XP_005269206.1

UniProtKB/Swiss-Prot

Q6XYC8, Q9BQ15

UniProtKB/TrEMBL

A0A024RB89

Conserved Domains (2) summary

PRK14971
Location:106 → 153

PRK14971; DNA polymerase III subunit gamma/tau

cd04491
Location:18 → 95

SoSSB_OBF; A subfamily of OB folds similar to the OB fold of the crenarchaeote Sulfolobus solfataricus single-stranded (ss) DNA-binding protein (SSoSSB). SSoSSB has a single OB fold, and it physically and functionally interacts with RNA polymerase. In vitro, SSoSSB ...
XM_047429532.1 → XP_047285488.1 SOSS complex subunit B1 isoform X3

UniProtKB/Swiss-Prot

Q6XYC8

UniProtKB/TrEMBL

A0A024RB89
XM_005269147.4 → XP_005269204.1 SOSS complex subunit B1 isoform X2

See identical proteins and their annotated locations for XP_005269204.1

Conserved Domains (1) summary

cd04491
Location:34 → 111

SoSSB_OBF; SoSSB_OBF: A subfamily of OB folds similar to the OB fold of the crenarchaeote Sulfolobus solfataricus single-stranded (ss) DNA-binding protein (SSoSSB). SSoSSB has a single OB fold, and it physically and functionally interacts with RNA polymerase. In ...
XM_047429531.1 → XP_047285487.1 SOSS complex subunit B1 isoform X1

Related

ENSP00000369545.2, ENST00000380198.6