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

Gene ID: 90634, updated on 21-Dec-2019

Summary

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
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

Genomic context

See N4BP2L1 in Genome Data Viewer
Location:
13q13.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (32400723..32429616, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32974860..33002490, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene BRCA2 DNA repair associated Neighboring gene Sharpr-MPRA regulatory region 1962 Neighboring gene interferon induced protein with tetratricopeptide repeats 1 pseudogene 1 Neighboring gene NEDD4 binding protein 2 like 2 Neighboring gene ATPase phospholipid transporting 8A2 pseudogene 2 Neighboring gene MICOS10 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001079691.2NP_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
    UniProtKB/Swiss-Prot
    Q5TBK1
    UniProtKB/TrEMBL
    A0A024RDV1, Q9UQP6
    Related
    ENSP00000369484.3, ENST00000380139.8
    Conserved Domains (1) summary
    pfam13671
    Location:44130
    AAA_33; AAA domain
  2. NM_001286459.2NP_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
    Q5TBK1
    UniProtKB/TrEMBL
    A0A024RDR5, Q9Y273
    Related
    ENSP00000369476.2, ENST00000380133.6
    Conserved Domains (2) summary
    pfam13207
    Location:44115
    AAA_17; AAA domain
    pfam13671
    Location:44177
    AAA_33; AAA domain
  3. NM_001286460.2NP_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:44115
    AAA_17; AAA domain
    pfam13671
    Location:44130
    AAA_33; AAA domain
  4. NM_001286461.2NP_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
    Related
    ENSP00000475237.1, ENST00000495479.5
    Conserved Domains (2) summary
    pfam13207
    Location:44115
    AAA_17; AAA domain
    pfam13671
    Location:44177
    AAA_33; AAA domain
  5. NM_001353627.2NP_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:46103
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl26098
    Location:165269
    AAA_33; AAA domain
  6. NM_001353628.2NP_001340557.1  NEDD4-binding protein 2-like 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL137247
    Conserved Domains (2) summary
    cl21455
    Location:46103
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl26098
    Location:165222
    AAA_33; AAA domain
  7. NM_001353629.2NP_001340558.1  NEDD4-binding protein 2-like 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL137247
    Conserved Domains (1) summary
    cl26098
    Location:87191
    AAA_33; AAA domain
  8. NM_001353630.2NP_001340559.1  NEDD4-binding protein 2-like 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL137247
    Conserved Domains (1) summary
    pfam13671
    Location:44130
    AAA_33; AAA domain
  9. NM_001353631.2NP_001340560.1  NEDD4-binding protein 2-like 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL137247
    Conserved Domains (1) summary
    cl26098
    Location:87164
    AAA_33; AAA domain
  10. NM_001353632.2NP_001340561.1  NEDD4-binding protein 2-like 1 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AL137247
    Related
    ENSP00000489423.1, ENST00000635608.1
    Conserved Domains (1) summary
    pfam13671
    Location:44150
    AAA_33; AAA domain
  11. NM_001353633.2NP_001340562.1  NEDD4-binding protein 2-like 1 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AL137247
    Conserved Domains (1) summary
    cl26098
    Location:17121
    AAA_33; AAA domain
  12. NM_001353634.2NP_001340563.1  NEDD4-binding protein 2-like 1 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AL137247
    Conserved Domains (1) summary
    pfam13671
    Location:44130
    AAA_33; AAA domain
  13. NM_001353635.2NP_001340564.1  NEDD4-binding protein 2-like 1 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AL137247
    Conserved Domains (1) summary
    cl17190
    Location:4782
    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_001353636.2NP_001340565.1  NEDD4-binding protein 2-like 1 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AL137247
    Conserved Domains (1) summary
    cl17190
    Location:4782
    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_001353637.2NP_001340566.1  NEDD4-binding protein 2-like 1 isoform 15

    Status: VALIDATED

    Source sequence(s)
    AL137247, HY102117
    Conserved Domains (1) summary
    cl26098
    Location:4494
    AAA_33; AAA domain
  16. NM_052818.3NP_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
    Q5TBK1
    UniProtKB/TrEMBL
    A0A024RDR5
    Related
    ENSP00000369473.2, ENST00000380130.7
    Conserved Domains (2) summary
    pfam13207
    Location:44115
    AAA_17; AAA domain
    pfam13671
    Location:44177
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    32400723..32429616 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020841.2XP_016876330.1  NEDD4-binding protein 2-like 1 isoform X5

  2. XM_017020840.2XP_016876329.1  NEDD4-binding protein 2-like 1 isoform X4

    Conserved Domains (1) summary
    cl26098
    Location:17121
    AAA_33; AAA domain
  3. XM_017020838.2XP_016876327.1  NEDD4-binding protein 2-like 1 isoform X1

    Conserved Domains (1) summary
    cl26098
    Location:87191
    AAA_33; AAA domain
  4. XM_024449431.1XP_024305199.1  NEDD4-binding protein 2-like 1 isoform X3

    Conserved Domains (1) summary
    cl26098
    Location:87164
    AAA_33; AAA domain
  5. XM_011535303.2XP_011533605.1  NEDD4-binding protein 2-like 1 isoform X2

    See identical proteins and their annotated locations for XP_011533605.1

    Conserved Domains (1) summary
    pfam13671
    Location:42146
    AAA_33; AAA domain
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