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    N4BP2L1 NEDD4 binding protein 2 like 1 [ Homo sapiens (human) ]

    Gene ID: 90634, updated on 5-Mar-2024

    Summary

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    Official Symbol
    N4BP2L1provided by HGNC
    Official Full Name
    NEDD4 binding protein 2 like 1provided by HGNC
    Primary source
    HGNC:HGNC:25037
    See related
    Ensembl:ENSG00000139597 AllianceGenome:HGNC:25037
    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
    CG018
    Expression
    Ubiquitous expression in ovary (RPKM 4.2), liver (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q13.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (32400723..32429615, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (31617965..31646859, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32974860..33002267, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5247 Neighboring gene BRCA2 promoter/silencer region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7554 Neighboring gene zygote arrest 1 like Neighboring gene BRCA2 DNA repair associated Neighboring gene Sharpr-MPRA regulatory region 1962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7555 Neighboring gene interferon induced protein with tetratricopeptide repeats 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7556 Neighboring gene small nucleolar RNA SNORA16B/SNORA16A family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7559 Neighboring gene NEDD4 binding protein 2 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7560 Neighboring gene ATPase phospholipid transporting 8A2 pseudogene 2 Neighboring gene MICOS10 pseudogene 1

    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. NEDD 4 binding protein 2-like 1 promotes cancer cell invasion in oral squamous cell carcinoma. Sasahira T, et al. Virchows Arch, 2016 Aug. PMID 27184799
    2. Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. Couch FJ, et al. Genomics, 1996 Aug 15. PMID 8812419
    3. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Garcia-Closas M, et al. Nat Genet, 2013 Apr. PMID 23535733, Free PMC Article
    4. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Michailidou K, et al. Nat Genet, 2013 Apr. PMID 23535729, Free PMC Article
    5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Hosgood HD 3rd, et al. Occup Environ Med, 2009 Dec. PMID 19773279, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cox proportional hazards analysis identified N4BP2L1 expression as an independent predictor of disease-free survival
      Title: NEDD 4 binding protein 2-like 1 promotes cancer cell invasion in oral squamous cell carcinoma.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog

    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

    General protein information

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    Preferred Names
    NEDD4-binding protein 2-like 1
    Names
    hypothetical gene CG018

    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_001079691.2 → NP_001073159.1  NEDD4-binding protein 2-like 1 isoform 2

      See identical proteins and their annotated locations for NP_001073159.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI783635, AL049787, AL137247, BI551105
      Consensus CDS
      CCDS41877.1
      Related
      ENSP00000369484.3, ENST00000380139.8
      Conserved Domains (1) summary
      pfam13671
      Location:44 → 130
      AAA_33; AAA domain

    2. NM_001286459.2 → NP_001273388.1  NEDD4-binding protein 2-like 1 isoform 1

      See identical proteins and their annotated locations for NP_001273388.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon structure in the 3' UTR, compared to variant 1. Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AI783635, AL049786, AL137247, BI551105
      Consensus CDS
      CCDS9345.2
      UniProtKB/Swiss-Prot
      A4QN21, Q5TBK0, Q5TBK1
      Related
      ENSP00000369476.2, ENST00000380133.6
      Conserved Domains (2) summary
      pfam13207
      Location:44 → 115
      AAA_17; AAA domain
      pfam13671
      Location:44 → 177
      AAA_33; AAA domain

    3. NM_001286460.2 → NP_001273389.1  NEDD4-binding protein 2-like 1 isoform 3

      See identical proteins and their annotated locations for NP_001273389.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains multiple differences in the 3' coding region, which result in a frameshift, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI783635, AI916535, AL137247, BI551105
      Conserved Domains (2) summary
      pfam13207
      Location:44 → 115
      AAA_17; AAA domain
      pfam13671
      Location:44 → 130
      AAA_33; AAA domain

    4. NM_001286461.2 → NP_001273390.1  NEDD4-binding protein 2-like 1 isoform 4

      See identical proteins and their annotated locations for NP_001273390.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate exon structure in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI783635, AL137247, BF448179, BI551105
      UniProtKB/TrEMBL
      U3KPU5
      Related
      ENSP00000475237.1, ENST00000495479.5
      Conserved Domains (2) summary
      pfam13207
      Location:44 → 115
      AAA_17; AAA domain
      pfam13671
      Location:44 → 177
      AAA_33; AAA domain

    5. NM_001353627.2 → NP_001340556.1  NEDD4-binding protein 2-like 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) encodes the longest isoform (5).
      Source sequence(s)
      AL137247
      Conserved Domains (2) summary
      cl21455
      Location:46 → 103
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl26098
      Location:165 → 269
      AAA_33; AAA domain

    6. NM_001353628.2 → NP_001340557.1  NEDD4-binding protein 2-like 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL137247
      Conserved Domains (2) summary
      cl21455
      Location:46 → 103
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl26098
      Location:165 → 222
      AAA_33; AAA domain

    7. NM_001353629.2 → NP_001340558.1  NEDD4-binding protein 2-like 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL137247
      Conserved Domains (1) summary
      pfam13671
      Location:87 → 191
      AAA_33; AAA domain

    8. NM_001353630.2 → NP_001340559.1  NEDD4-binding protein 2-like 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL137247
      Conserved Domains (1) summary
      pfam13671
      Location:44 → 130
      AAA_33; AAA domain

    9. NM_001353631.2 → NP_001340560.1  NEDD4-binding protein 2-like 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL137247
      Conserved Domains (1) summary
      pfam13671
      Location:87 → 164
      AAA_33; AAA domain

    10. NM_001353632.2 → NP_001340561.1  NEDD4-binding protein 2-like 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL137247
      UniProtKB/TrEMBL
      A0A0U1RRA5
      Related
      ENSP00000489423.1, ENST00000635608.1
      Conserved Domains (1) summary
      pfam13671
      Location:44 → 150
      AAA_33; AAA domain

    11. NM_001353633.2 → NP_001340562.1  NEDD4-binding protein 2-like 1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL137247
      Conserved Domains (1) summary
      pfam13671
      Location:17 → 121
      AAA_33; AAA domain

    12. NM_001353634.2 → NP_001340563.1  NEDD4-binding protein 2-like 1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL137247
      Conserved Domains (1) summary
      pfam13671
      Location:44 → 130
      AAA_33; AAA domain

    13. NM_001353635.2 → NP_001340564.1  NEDD4-binding protein 2-like 1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AL137247
      Conserved Domains (1) summary
      cl17190
      Location:47 → 82
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    14. NM_001353636.2 → NP_001340565.1  NEDD4-binding protein 2-like 1 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AL137247
      Conserved Domains (1) summary
      cl17190
      Location:47 → 82
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    15. NM_001353637.2 → NP_001340566.1  NEDD4-binding protein 2-like 1 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AL137247, HY102117
      Conserved Domains (1) summary
      cl26098
      Location:44 → 94
      AAA_33; AAA domain

    16. NM_052818.3 → NP_438169.2  NEDD4-binding protein 2-like 1 isoform 1

      See identical proteins and their annotated locations for NP_438169.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AI783635, AL137247, BI551105
      Consensus CDS
      CCDS9345.2
      UniProtKB/Swiss-Prot
      A4QN21, Q5TBK0, Q5TBK1
      Related
      ENSP00000369473.2, ENST00000380130.7
      Conserved Domains (2) summary
      pfam13207
      Location:44 → 115
      AAA_17; AAA domain
      pfam13671
      Location:44 → 177
      AAA_33; AAA domain

    RNA

    1. NR_148475.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL137247

    2. NR_148476.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL137247

    3. NR_148477.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL137247

    4. NR_148478.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL137247

    5. NR_148479.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL137247

    6. NR_148480.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL137247

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      32400723..32429615 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535303.3 → XP_011533605.1  NEDD4-binding protein 2-like 1 isoform X5

      See identical proteins and their annotated locations for XP_011533605.1

      Conserved Domains (1) summary
      pfam13671
      Location:42 → 146
      AAA_33; AAA domain

    2. XM_017020838.3 → XP_016876327.1  NEDD4-binding protein 2-like 1 isoform X4

      Conserved Domains (1) summary
      pfam13671
      Location:87 → 191
      AAA_33; AAA domain

    3. XM_047430763.1 → XP_047286719.1  NEDD4-binding protein 2-like 1 isoform X3

    4. XM_047430761.1 → XP_047286717.1  NEDD4-binding protein 2-like 1 isoform X1

    5. XM_047430764.1 → XP_047286720.1  NEDD4-binding protein 2-like 1 isoform X6

    6. XM_047430762.1 → XP_047286718.1  NEDD4-binding protein 2-like 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      31617965..31646859 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375164.1 → XP_054231139.1  NEDD4-binding protein 2-like 1 isoform X5

    2. XM_054375163.1 → XP_054231138.1  NEDD4-binding protein 2-like 1 isoform X4

    3. XM_054375162.1 → XP_054231137.1  NEDD4-binding protein 2-like 1 isoform X3

    4. XM_054375160.1 → XP_054231135.1  NEDD4-binding protein 2-like 1 isoform X1

    5. XM_054375165.1 → XP_054231140.1  NEDD4-binding protein 2-like 1 isoform X6

    6. XM_054375161.1 → XP_054231136.1  NEDD4-binding protein 2-like 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TBK1.1 GenPept UniProtKB/Swiss-Prot:Q5TBK1

    Gene LinkOut

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

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