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

Gene ID: 65009, updated on 5-Jan-2020

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
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
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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 Sharpr-MPRA regulatory region 12894 Neighboring gene RNA, U6 small nuclear 103, pseudogene Neighboring gene SET domain containing 6, protein lysine methyltransferase 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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, ENST00000394282.8
    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, ENST00000356752.8
    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, ENST00000568640.5
    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, ENST00000570248.5
    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, ENST00000566192.5
    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
    Related
    ENSP00000457119.1, ENST00000569923.5
    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, ENST00000258187.9
    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 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_000016.10 Reference GRCh38.p13 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_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
  15. 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
  16. XM_017023583.2XP_016879072.1  protein NDRG4 isoform X6

  17. 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
  18. 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
  19. XM_017023582.2XP_016879071.1  protein NDRG4 isoform X4

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

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

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

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

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

    Conserved Domains (1) summary
    pfam03096
    Location:70352
    Ndr; Ndr family
  25. 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
  26. 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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