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NBPF26 NBPF member 26 [ Homo sapiens (human) ]

Gene ID: 101060684, updated on 8-Mar-2024

Summary

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Official Symbol
NBPF26provided by HGNC
Official Full Name
NBPF member 26provided by HGNC
Primary source
HGNC:HGNC:49571
See related
Ensembl:ENSG00000273136 AllianceGenome:HGNC:49571
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
NOTCH2NLR
Summary
Predicted to enable calcium ion binding activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 21.7), appendix (RPKM 16.7) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
1p11.2
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (120723945..120842229)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (120737164..120851627)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (148250249..148346795, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PDE4DIP pseudogene 2 Neighboring gene uncharacterized LOC124904392 Neighboring gene uncharacterized LOC105378944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1249 Neighboring gene notch 2 N-terminal like R Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1251 Neighboring gene tRNA-Asn (anticodon GTT) 7-1 Neighboring gene RNA, variant U1 small nuclear 19

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A novel 12-gene signature as independent prognostic model in stage IA and IB lung squamous cell carcinoma patients. Wang K, et al. Clin Transl Oncol, 2021 Nov. PMID 34028782
  2. Changing the name of the NBPF/DUF1220 domain to the Olduvai domain. Sikela JM, et al. F1000Res, 2017. PMID 29399325, Free PMC Article
  3. High resolution measurement of DUF1220 domain copy number from whole genome sequence data. Astling DP, et al. BMC Genomics, 2017 Aug 14. PMID 28807002, Free PMC Article
  4. Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome. O'Bleness M, et al. BMC Genomics, 2014 May 20. PMID 24885025, Free PMC Article
  5. NBPF is a potential DNA-binding transcription factor that is directly regulated by NF-κB. Zhou F, et al. Int J Biochem Cell Biol, 2013 Nov. PMID 23939288

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ60520

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
neuroblastoma breakpoint family member 26
Names
NOTCH2NL-related

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)

  1. NM_001351372.2 → NP_001338301.2  neuroblastoma breakpoint family member 26 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC247039, AC253572

  2. NM_001395637.2 → NP_001382566.1  neuroblastoma breakpoint family member 26 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC247039, AC253572
    UniProtKB/TrEMBL
    A0A087WY62, A0A494C053
    Conserved Domains (2) summary
    COG0419
    Location:272 → 663
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00054
    Location:182 → 218
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

  3. NM_001405520.1 → NP_001392449.1  neuroblastoma breakpoint family member 26 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC247039, AC253572
    Related
    ENSP00000481542.4, ENST00000620612.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    120723945..120842229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791753.1 Reference GRCh38.p14 PATCHES

    Range
    334438..452722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    120737164..120851627
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A096LNW5.2 GenPept UniProtKB/Swiss-Prot:A0A096LNW5
B4DH59.1 GenPept UniProtKB/Swiss-Prot:B4DH59

Gene LinkOut

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