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    NDRG4 NDRG family member 4 [ Homo sapiens (human) ]

    Gene ID: 65009, updated on 5-Aug-2018

    Summary

    Official Symbol
    NDRG4provided by HGNC
    Official Full Name
    NDRG family member 4provided by HGNC
    Primary source
    HGNC:HGNC:14466
    See related
    Ensembl:ENSG00000103034 MIM:614463; Vega:OTTHUMG00000133485
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BDM1; SMAP8; SMAP-8
    Summary
    This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011]
    Expression
    Biased expression in brain (RPKM 109.2), heart (RPKM 62.3) and 4 other tissues See more
    Orthologs

    Genomic context

    See NDRG4 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (58463645..58515403)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (58497549..58547523)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene GINS complex subunit 3 Neighboring gene long intergenic non-protein coding RNA 2137 Neighboring gene RNA, U6 small nuclear 103, pseudogene Neighboring gene SET domain containing 6 Neighboring gene CCR4-NOT transcription complex subunit 1 Neighboring gene small nucleolar RNA, H/ACA box 46

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval.
    NHGRI GWA Catalog
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    NHGRI GWA Catalog
    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    NHGRI GWA Catalog
    Several common variants modulate heart rate, PR interval and QRS duration.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ30586, FLJ42011, KIAA1180, MGC19632, DKFZp686I1615

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell migration involved in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic heart tube development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of platelet-derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of smooth muscle cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of endocytic recycling IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    vesicle docking IEA
    Inferred from Electronic Annotation
    more info
     
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell projection membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    protein NDRG4
    Names
    N-myc downstream-regulated gene 4 protein
    brain development-related molecule 1
    smooth muscle-associated protein 8
    vascular smooth muscle cell-associated protein 8

    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.

    Genomic

    1. NG_041803.1 RefSeqGene

      Range
      5001..54975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130487.1NP_001123959.1  protein NDRG4 isoform 2

      See identical proteins and their annotated locations for NP_001123959.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AC009118, AK126574, BC011795, DB498690
      Consensus CDS
      CCDS45500.1
      UniProtKB/Swiss-Prot
      Q9ULP0
      Related
      ENSP00000377823.4, OTTHUMP00000164721, ENST00000394282.8, OTTHUMT00000257383
      Conserved Domains (1) summary
      pfam03096
      Location:60342
      Ndr; Ndr family
    2. NM_001242833.1NP_001229762.1  protein NDRG4 isoform 4

      See identical proteins and their annotated locations for NP_001229762.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences at the 5' end which result in the use of a distinct translation initiation codon, compared to variant 2. The encoded protein (isoform 4) has a shorter and distinct N-terminus, compared to isoform 2.
      Source sequence(s)
      AK299949, BC011795
      Consensus CDS
      CCDS55999.1
      UniProtKB/Swiss-Prot
      Q9ULP0
      Related
      ENSP00000349193.4, OTTHUMP00000250284, ENST00000356752.8, OTTHUMT00000422669
      Conserved Domains (1) summary
      pfam03096
      Location:38320
      Ndr; Ndr family
    3. NM_001242834.1NP_001229763.1  protein NDRG4 isoform 5

      See identical proteins and their annotated locations for NP_001229763.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences at the 5' end which result in the use of a distinct translation initiation codon, compared to variant 2. The encoded protein (isoform 5) has a shorter and distinct N-terminus, compared to isoform 2.
      Source sequence(s)
      AK296415, BC011795
      Consensus CDS
      CCDS58465.1
      UniProtKB/Swiss-Prot
      Q9ULP0
      Related
      ENSP00000456338.1, OTTHUMP00000250282, ENST00000568640.5, OTTHUMT00000422667
      Conserved Domains (1) summary
      pfam03096
      Location:26308
      Ndr; Ndr family
    4. NM_001242835.1NP_001229764.1  protein NDRG4 isoform 6

      See identical proteins and their annotated locations for NP_001229764.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences at the 5' end which result in the use of a distinct translation initiation codon and an additional exon in the 3' coding region, compared to variant 2. The encoded protein (isoform 6; also known as NDRG4-Bvar) has a shorter and distinct N-terminus and longer C-terminus, compared to isoform 2.
      Source sequence(s)
      AB044945, BC011795
      Consensus CDS
      CCDS58466.1
      UniProtKB/Swiss-Prot
      Q9ULP0
      UniProtKB/TrEMBL
      A0A0S2Z5R7
      Related
      ENSP00000457659.1, OTTHUMP00000250286, ENST00000570248.5, OTTHUMT00000422671
      Conserved Domains (1) summary
      pfam03096
      Location:8290
      Ndr; Ndr family
    5. NM_001242836.1NP_001229765.1  protein NDRG4 isoform 3

      See identical proteins and their annotated locations for NP_001229765.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences at the 5' end which result in the use of a distinct translation initiation codon, compared to variant 2. The encoded protein (isoform 3; also known as NDRG4-B) has a shorter and distinct N-terminus, compared to isoform 2.
      Source sequence(s)
      AK316089, BC011795
      Consensus CDS
      CCDS58467.1
      UniProtKB/Swiss-Prot
      Q9ULP0
      UniProtKB/TrEMBL
      A0A0S2Z5L7, B7Z9X4
      Related
      ENSP00000454410.1, OTTHUMP00000250287, ENST00000566192.5, OTTHUMT00000422672
      Conserved Domains (1) summary
      pfam03096
      Location:8290
      Ndr; Ndr family
    6. NM_001363869.1NP_001350798.1  protein NDRG4 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC009118, KF456201
      Consensus CDS
      CCDS86532.1
      Conserved Domains (1) summary
      cl21494
      Location:1235
      Abhydrolase; alpha/beta hydrolases
    7. NM_020465.3NP_065198.1  protein NDRG4 isoform 1

      See identical proteins and their annotated locations for NP_065198.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR which results in the use of an in-frame downstream translation initiation codon, compared to variant 2. The encoded protein (isoform 1; also known as NDRG4-H) has a shorter N-terminus, compared to isoform 2. Variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AC009118, BC011795, DA242460, KF456201
      Consensus CDS
      CCDS10797.1
      UniProtKB/Swiss-Prot
      Q9ULP0
      UniProtKB/TrEMBL
      A0A024R6V8
      Related
      ENSP00000258187.5, OTTHUMP00000164720, ENST00000258187.9, OTTHUMT00000257382
      Conserved Domains (1) summary
      pfam03096
      Location:40322
      Ndr; Ndr family
    8. NM_022910.3NP_075061.1  protein NDRG4 isoform 1

      See identical proteins and their annotated locations for NP_075061.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR which results in the use of an in-frame downstream translation initiation codon, compared to variant 2. The encoded protein (isoform 1; also known as NDRG4-H) has a shorter N-terminus, compared to isoform 2. Variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AB044946, BC011795, DA099057
      Consensus CDS
      CCDS10797.1
      UniProtKB/Swiss-Prot
      Q9ULP0
      UniProtKB/TrEMBL
      A0A024R6V8
      Related
      ENSP00000377820.2, ENST00000394279.6
      Conserved Domains (1) summary
      pfam03096
      Location:40322
      Ndr; Ndr family

    RNA

    1. NR_040072.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) includes an alternate exon segment in the 5' coding region, compared to variant 2, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK316089, BC011795

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

      Range
      58463645..58515403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721260.4XP_006721323.1  protein NDRG4 isoform X5

      See identical proteins and their annotated locations for XP_006721323.1

      Conserved Domains (1) summary
      pfam03096
      Location:40322
      Ndr; Ndr family
    2. XM_006721256.3XP_006721319.1  protein NDRG4 isoform X1

      See identical proteins and their annotated locations for XP_006721319.1

      Conserved Domains (1) summary
      pfam03096
      Location:70352
      Ndr; Ndr family
    3. XM_017023587.1XP_016879076.1  protein NDRG4 isoform X3

      Conserved Domains (2) summary
      TIGR02427
      Location:80346
      protocat_pcaD; 3-oxoadipate enol-lactonase
      pfam03096
      Location:70352
      Ndr; Ndr family
    4. XM_006721258.3XP_006721321.1  protein NDRG4 isoform X2

      See identical proteins and their annotated locations for XP_006721321.1

      Conserved Domains (1) summary
      pfam03096
      Location:58340
      Ndr; Ndr family
    5. XM_017023588.1XP_016879077.1  protein NDRG4 isoform X4

    6. XM_011523294.2XP_011521596.1  protein NDRG4 isoform X5

      See identical proteins and their annotated locations for XP_011521596.1

      Conserved Domains (1) summary
      pfam03096
      Location:40322
      Ndr; Ndr family
    7. XM_017023590.1XP_016879079.1  protein NDRG4 isoform X17

      UniProtKB/Swiss-Prot
      Q9ULP0
      UniProtKB/TrEMBL
      A0A024R6V8
      Conserved Domains (1) summary
      pfam03096
      Location:40322
      Ndr; Ndr family
    8. XM_006721254.3XP_006721317.1  protein NDRG4 isoform X9

      See identical proteins and their annotated locations for XP_006721317.1

      Conserved Domains (1) summary
      pfam03096
      Location:78360
      Ndr; Ndr family
    9. XM_017023585.1XP_016879074.1  protein NDRG4 isoform X11

      Conserved Domains (2) summary
      TIGR02427
      Location:88354
      protocat_pcaD; 3-oxoadipate enol-lactonase
      pfam03096
      Location:78360
      Ndr; Ndr family
    10. XM_006721257.4XP_006721320.1  protein NDRG4 isoform X12

      See identical proteins and their annotated locations for XP_006721320.1

      Conserved Domains (1) summary
      pfam03096
      Location:60342
      Ndr; Ndr family
    11. XM_006721252.3XP_006721315.1  protein NDRG4 isoform X7

      Conserved Domains (1) summary
      pfam03096
      Location:90372
      Ndr; Ndr family
    12. XM_017023584.1XP_016879073.1  protein NDRG4 isoform X10

      Conserved Domains (1) summary
      pfam03096
      Location:90372
      Ndr; Ndr family
    13. XM_024450400.1XP_024306168.1  protein NDRG4 isoform X19

      Conserved Domains (1) summary
      cl21494
      Location:1235
      Abhydrolase; alpha/beta hydrolases
    14. XM_024450401.1XP_024306169.1  protein NDRG4 isoform X20

      Related
      ENSP00000457119.1, ENST00000569923.5
      Conserved Domains (1) summary
      cl21494
      Location:1235
      Abhydrolase; alpha/beta hydrolases
    15. XM_011523293.2XP_011521595.1  protein NDRG4 isoform X5

      See identical proteins and their annotated locations for XP_011521595.1

      Conserved Domains (1) summary
      pfam03096
      Location:40322
      Ndr; Ndr family
    16. XM_011523292.3XP_011521594.1  protein NDRG4 isoform X3

      Conserved Domains (2) summary
      TIGR02427
      Location:80346
      protocat_pcaD; 3-oxoadipate enol-lactonase
      pfam03096
      Location:70352
      Ndr; Ndr family
    17. XM_017023583.2XP_016879072.1  protein NDRG4 isoform X6

    18. XM_011523290.3XP_011521592.1  protein NDRG4 isoform X1

      See identical proteins and their annotated locations for XP_011521592.1

      Conserved Domains (1) summary
      pfam03096
      Location:70352
      Ndr; Ndr family
    19. XM_011523291.3XP_011521593.1  protein NDRG4 isoform X2

      See identical proteins and their annotated locations for XP_011521593.1

      Conserved Domains (1) summary
      pfam03096
      Location:58340
      Ndr; Ndr family
    20. XM_017023582.2XP_016879071.1  protein NDRG4 isoform X4

    21. XM_006721259.4XP_006721322.1  protein NDRG4 isoform X14

      Conserved Domains (1) summary
      pfam03096
      Location:53335
      Ndr; Ndr family
    22. XM_017023589.2XP_016879078.1  protein NDRG4 isoform X15

      Conserved Domains (1) summary
      pfam03096
      Location:53335
      Ndr; Ndr family
    23. XM_017023586.1XP_016879075.1  protein NDRG4 isoform X13

    24. XM_006721253.3XP_006721316.1  protein NDRG4 isoform X8

      Conserved Domains (1) summary
      pfam03096
      Location:83365
      Ndr; Ndr family
    25. XM_024450398.1XP_024306166.1  protein NDRG4 isoform X1

      Conserved Domains (1) summary
      pfam03096
      Location:70352
      Ndr; Ndr family
    26. XM_006721262.3XP_006721325.1  protein NDRG4 isoform X18

      Conserved Domains (2) summary
      TIGR02427
      Location:36302
      protocat_pcaD; 3-oxoadipate enol-lactonase
      pfam03096
      Location:26308
      Ndr; Ndr family
    27. XM_006721261.3XP_006721324.1  protein NDRG4 isoform X16

      See identical proteins and their annotated locations for XP_006721324.1

      Conserved Domains (1) summary
      pfam03096
      Location:38320
      Ndr; Ndr family
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