NABP1 nucleic acid binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NABP1provided by HGNC
Official Full Name: nucleic acid binding protein 1provided by HGNC
Primary source: HGNC:HGNC:26232
See related: Ensembl:ENSG00000173559 MIM:612103
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: SSB2; OBFC2A; SOSS-B2
Summary: Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, 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: Broad expression in appendix (RPKM 17.5), spleen (RPKM 12.9) and 21 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 2q32.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	2	NC_000002.12 (191678072..191690667)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (192542798..192553248)

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?

SNPs rs11903757, with closest proximity to NABP1 and SDPR, and rs966423 in DIRC3, were associated with survival in laryngeal squamous cell carcinoma patients.
Title: DIRC3 and near NABP1 genetic polymorphisms are associated laryngeal squamous cell carcinoma patient survival.
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.

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

NHGRI GWAS Catalog

Description
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

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 NABP1 gene: The NABP1 gene is conserved in chimpanzee, Rhesus monkey, cow, mouse, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 242 organisms have orthologs with human gene NABP1
Orthologs

Clone Names

FLJ13624, FLJ22833, MGC111163, DKFZp667M1322

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
RNA binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
single-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to DNA damage stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
mitotic cell cycle checkpoint	IBA Inferred from Biological aspect of Ancestor more info	PubMed
mitotic cell cycle checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
response to ionizing radiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
snRNA transcription by RNA polymerase II	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
SOSS complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
SOSS complex	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
nuclear chromosome, telomeric region	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nuclear chromosome, telomeric region	ISS Inferred from Sequence or Structural Similarity more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: SOSS complex subunit B2

Names: oligonucleotide/oligosaccharide-binding fold containing 2A; oligonucleotide/oligosaccharide-binding fold-containing protein 2A; sensor of single-strand DNA complex subunit B2; sensor of ssDNA subunit B2; single-stranded DNA-binding protein 2

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_001031716.4 → NP_001026886.1 SOSS complex subunit B2 isoform 1

See identical proteins and their annotated locations for NP_001026886.1

Status: VALIDATED

Source sequence(s)

AC114778

Consensus CDS

CCDS33352.1

UniProtKB/Swiss-Prot

Q96AH0

Related

ENSP00000403683.2, ENST00000425611.7

Conserved Domains (1) summary

cd04491
Location:22 → 99

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 ...
NM_001254736.2 → NP_001241665.1 SOSS complex subunit B2 isoform 2

See identical proteins and their annotated locations for NP_001241665.1

Status: VALIDATED

Source sequence(s)

AC114778

Consensus CDS

CCDS58745.1

UniProtKB/Swiss-Prot

Q96AH0

Related

ENSP00000387243.1, ENST00000410026.6

RNA

NR_045622.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC114778
NR_045623.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC114778

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p13 Primary Assembly

Range

191678072..191690667

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_022837.1: Suppressed sequence

Description

NM_022837.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.