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    NBPF11 NBPF member 11 [ Homo sapiens (human) ]

    Gene ID: 200030, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NBPF11provided by HGNC
    Official Full Name
    NBPF member 11provided by HGNC
    Primary source
    HGNC:HGNC:31993
    See related
    Ensembl:ENSG00000263956 MIM:614001; AllianceGenome:HGNC:31993
    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
    NBPF24
    Summary
    Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 15.7), ovary (RPKM 14.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See NBPF11 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (148102151..148152281, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (146655132..146705256)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (147574428..147624560, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4 hESC enhancer GRCh37_chr1:147520877-147521378 Neighboring gene tRNA-Asn (anticodon GTT) 9-2 Neighboring gene PDE4DIP pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:147532116-147532616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:147532617-147533117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:146009957-146010457 Neighboring gene profilin 1 pseudogene 4 Neighboring gene ABHD17A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1638 Neighboring gene uncharacterized LOC105371227 Neighboring gene long intergenic non-protein coding RNA 2805

    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 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. Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in a neuroblastoma patient. Establishment of somatic cell hybrids and identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on chromosome 17 as breakpoint flanking single copy markers. Laureys G, et al. Oncogene, 1995 Mar 16. PMID 7700633
    2. Chibby interacts with NBPF1 and clusterin, two candidate tumor suppressors linked to neuroblastoma. Vandepoele K, et al. Exp Cell Res, 2010 Apr 15. PMID 20096688
    3. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Vandepoele K, et al. Mol Biol Evol, 2005 Nov. PMID 16079250
    4. Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. Tsuritani K, et al. Genome Res, 2007 Jul. PMID 17567985, Free PMC Article
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983, Free PMC Article

    See all (13) 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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    Markers

    Homology

    Clone Names

    • FLJ61663, DKFZp451B1418

    Gene Ontology Provided by GOA

    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 11
    Names
    neuroblastoma breakpoint family, member 24

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001101663.5 → NP_001095133.3  neuroblastoma breakpoint family member 11 isoform b

      See identical proteins and their annotated locations for NP_001095133.3

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Related
      ENSP00000484213.1, ENST00000614015.4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    2. NM_001385468.3 → NP_001372397.2  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    3. NM_001385469.3 → NP_001372398.2  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Related
      ENSP00000507808.1, ENST00000682118.1
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    4. NM_001385470.3 → NP_001372399.2  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    5. NM_001385471.1 → NP_001372400.1  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    6. NM_001385472.1 → NP_001372401.1  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    7. NM_001385473.1 → NP_001372402.1  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    8. NM_001385474.1 → NP_001372403.1  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    9. NM_001385475.1 → NP_001372404.1  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    10. NM_001385476.1 → NP_001372405.1  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    11. NM_001385477.1 → NP_001372406.1  neuroblastoma breakpoint family member 11 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC239803
      UniProtKB/TrEMBL
      A0A087WTH4
      Conserved Domains (1) summary
      pfam06758
      Location:607 → 672
      DUF1220; Repeat of unknown function (DUF1220)

    12. NM_001385478.1 → NP_001372407.1  neuroblastoma breakpoint family member 11 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC239803
      UniProtKB/TrEMBL
      A0A087WTH4
      Conserved Domains (1) summary
      pfam06758
      Location:607 → 672
      DUF1220; Repeat of unknown function (DUF1220)

    13. NM_001385479.1 → NP_001372408.1  neuroblastoma breakpoint family member 11 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC239803
      UniProtKB/TrEMBL
      A0A087WTH4
      Conserved Domains (1) summary
      pfam06758
      Location:607 → 672
      DUF1220; Repeat of unknown function (DUF1220)

    14. NM_001385480.1 → NP_001372409.1  neuroblastoma breakpoint family member 11 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC239803
      UniProtKB/TrEMBL
      A0A087WTH4
      Related
      ENSP00000477874.1, ENST00000613531.1
      Conserved Domains (1) summary
      pfam06758
      Location:607 → 672
      DUF1220; Repeat of unknown function (DUF1220)

    15. NM_183372.9 → NP_899228.5  neuroblastoma breakpoint family member 11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Consensus CDS
      CCDS41381.2
      UniProtKB/Swiss-Prot
      B1AKG1, B7Z7R4, Q5RGN0, Q86T75
      UniProtKB/TrEMBL
      Q3BBV4
      Related
      ENSP00000477509.1, ENST00000615281.4
      Conserved Domains (2) summary
      COG0419
      Location:11 → 401
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam06758
      Location:682 → 747
      DUF1220; Repeat of unknown function (DUF1220)

    RNA

    1. NR_046188.5 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC239803

    2. NR_110864.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC239803
      Related
      ENST00000614506.4

    3. NR_169628.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC239803

    4. NR_169629.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC239803

    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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      148102151..148152281 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      146655132..146705256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86T75.3 GenPept UniProtKB/Swiss-Prot:Q86T75

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools