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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
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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

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