Aliases for NIP7 Gene

Aliases for NIP7 Gene

  • Nucleolar Pre-RRNA Processing Protein NIP7 2 3 5
  • 60S Ribosome Subunit Biogenesis Protein NIP7 Homolog 3 4
  • KD93 3 4
  • NIP7, Nucleolar Pre-RRNA Processing Protein 3
  • Nuclear Import 7 Homolog (S. Cerevisiae) 2
  • Nuclear Import 7 Homolog 3
  • HSPC031 3
  • CGI-37 3

External Ids for NIP7 Gene

Previous GeneCards Identifiers for NIP7 Gene

  • GC16P067932
  • GC16P055252

Summaries for NIP7 Gene

GeneCards Summary for NIP7 Gene

NIP7 (Nucleolar Pre-RRNA Processing Protein NIP7) is a Protein Coding gene. Diseases associated with NIP7 include Robinow Syndrome, Autosomal Dominant 1 and Shwachman-Diamond Syndrome 1. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is CKS1B.

UniProtKB/Swiss-Prot Summary for NIP7 Gene

  • Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly.

Gene Wiki entry for NIP7 Gene

Additional gene information for NIP7 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NIP7 Gene

Genomics for NIP7 Gene

GeneHancer (GH) Regulatory Elements for NIP7 Gene

Promoters and enhancers for NIP7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NIP7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NIP7

Top Transcription factor binding sites by QIAGEN in the NIP7 gene promoter:
  • AML1a
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • CUTL1
  • HEN1
  • NF-AT
  • p53

Genomic Locations for NIP7 Gene

Genomic Locations for NIP7 Gene
chr16:69,337,996-69,343,111
(GRCh38/hg38)
Size:
5,116 bases
Orientation:
Plus strand
chr16:69,373,333-69,377,014
(GRCh37/hg19)
Size:
3,682 bases
Orientation:
Plus strand

Genomic View for NIP7 Gene

Genes around NIP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIP7 Gene

Proteins for NIP7 Gene

  • Protein details for NIP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y221-NIP7_HUMAN
    Recommended name:
    60S ribosome subunit biogenesis protein NIP7 homolog
    Protein Accession:
    Q9Y221
    Secondary Accessions:
    • B2RD04
    • Q9NZZ0

    Protein attributes for NIP7 Gene

    Size:
    180 amino acids
    Molecular mass:
    20463 Da
    Quaternary structure:
    • Monomer. Interacts with pre-ribosome complex. May bind to RNA (By similarity). Interacts with NOL8. May interact with SBDS. Interacts with FTSJ3.

    Three dimensional structures from OCA and Proteopedia for NIP7 Gene

    Alternative splice isoforms for NIP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NIP7 Gene

Post-translational modifications for NIP7 Gene

  • Ubiquitination at Lys50, Lys94, Lys155, and Lys115
  • Modification sites at PhosphoSitePlus

Other Protein References for NIP7 Gene

No data available for DME Specific Peptides for NIP7 Gene

Domains & Families for NIP7 Gene

Gene Families for NIP7 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NIP7 Gene

Blocks:
  • Protein of unknown function UPF0113
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIP7 Gene

GenScript: Design optimal peptide antigens:
  • KD93 (NIP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y221

UniProtKB/Swiss-Prot:

NIP7_HUMAN :
  • Belongs to the NIP7 family.
Family:
  • Belongs to the NIP7 family.
genes like me logo Genes that share domains with NIP7: view

Function for NIP7 Gene

Molecular function for NIP7 Gene

UniProtKB/Swiss-Prot Function:
Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly.

Phenotypes From GWAS Catalog for NIP7 Gene

Gene Ontology (GO) - Molecular Function for NIP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 14660641
genes like me logo Genes that share ontologies with NIP7: view
genes like me logo Genes that share phenotypes with NIP7: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NIP7 Gene

Localization for NIP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIP7 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NIP7 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NIP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA,IBA --
GO:0005829 cytosol IDA --
GO:0030687 preribosome, large subunit precursor IBA 21873635
genes like me logo Genes that share ontologies with NIP7: view

Pathways & Interactions for NIP7 Gene

PathCards logo

SuperPathways for NIP7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NIP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042254 ribosome biogenesis IEA --
GO:0042255 ribosome assembly IEA --
GO:0042273 ribosomal large subunit biogenesis IBA 21873635
genes like me logo Genes that share ontologies with NIP7: view

No data available for Pathways by source and SIGNOR curated interactions for NIP7 Gene

Drugs & Compounds for NIP7 Gene

(1) Drugs for NIP7 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Radezolid Investigational Pharma Target 2
genes like me logo Genes that share compounds with NIP7: view

Transcripts for NIP7 Gene

mRNA/cDNA for NIP7 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NIP7 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - -
SP2: - - - -
SP3: -
SP4: -
SP5: - - -
SP6: - - -

Relevant External Links for NIP7 Gene

GeneLoc Exon Structure for
NIP7

Expression for NIP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NIP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NIP7 Gene

This gene is overexpressed in Monocytes (21.1), Lung (9.1), Pancreas (7.5), and CD8 Tcells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NIP7 Gene



Protein tissue co-expression partners for NIP7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NIP7

SOURCE GeneReport for Unigene cluster for NIP7 Gene:

Hs.585728

mRNA Expression by UniProt/SwissProt for NIP7 Gene:

Q9Y221-NIP7_HUMAN
Tissue specificity: Expressed in hematopoietic stem/progenitor cells.

Evidence on tissue expression from TISSUES for NIP7 Gene

  • Skin(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with NIP7: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NIP7 Gene

Orthologs for NIP7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NIP7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NIP7 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NIP7 31 30
  • 91.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NIP7 31 30
  • 90.74 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIP7 31
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nip7 30
  • 88.15 (n)
oppossum
(Monodelphis domestica)
Mammalia NIP7 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nip7 17 31 30
  • 87.04 (n)
chicken
(Gallus gallus)
Aves NIP7 31 30
  • 77.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NIP7 31
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nip7 30
  • 77.41 (n)
Str.10336 30
zebrafish
(Danio rerio)
Actinopterygii nip7 31 30
  • 73.52 (n)
OneToOne
Dr.16108 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6718 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002330 30
  • 64.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7006 31 30
  • 63.5 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C43E11.9 31 30
  • 59.22 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL104W 30
  • 60.15 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02266g 30
  • 59.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NIP7 33 31 30
  • 56.98 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G15770 30
  • 61.64 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.383 30
rice
(Oryza sativa)
Liliopsida Os07g0670600 30
  • 55.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5575 31
  • 74 (a)
OneToOne
Cin.6681 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC320.11c 30
  • 64.06 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00105 30
  • 53.45 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6681 30
Species where no ortholog for NIP7 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NIP7 Gene

ENSEMBL:
Gene Tree for NIP7 (if available)
TreeFam:
Gene Tree for NIP7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NIP7: view image

Paralogs for NIP7 Gene

Paralogs for NIP7 Gene

Pseudogenes.org Pseudogenes for NIP7 Gene

genes like me logo Genes that share paralogs with NIP7: view

Variants for NIP7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NIP7 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
676663 Likely Benign: not provided 69,339,520(+) G/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
715279 Likely Benign: not provided 69,339,533(+) A/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
724839 Likely Benign: not provided 69,339,529(+) T/C SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
738581 Likely Benign: not provided 69,339,547(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs151318611 Uncertain Significance: Congenital disorder of glycosylation type 2H; not provided 69,339,548(+) G/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for NIP7 Gene

Structural Variations from Database of Genomic Variants (DGV) for NIP7 Gene

Variant ID Type Subtype PubMed ID
nsv827715 CNV loss 20364138

Variation tolerance for NIP7 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NIP7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIP7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIP7 Gene

Disorders for NIP7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NIP7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
robinow syndrome, autosomal dominant 1
  • drs1
shwachman-diamond syndrome 1
  • sds1
robinow syndrome
  • robinow dwarfism
branchiootic syndrome
  • branchiootic syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search NIP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NIP7

genes like me logo Genes that share disorders with NIP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NIP7 Gene

Publications for NIP7 Gene

  1. The human nucleolar protein FTSJ3 associates with NIP7 and functions in pre-rRNA processing. (PMID: 22195017) Morello LG … Zanchin NI (PloS one 2011) 2 3 4 54
  2. Crystal structure of KD93, a novel protein expressed in human hematopoietic stem/progenitor cells. (PMID: 15522784) Liu JF … Liang DC (Journal of structural biology 2004) 3 4 23 54
  3. A novel human nucleolar protein, Nop132, binds to the G proteins, RRAG A/C/D. (PMID: 14660641) Sekiguchi T … Nishimoto T (The Journal of biological chemistry 2004) 2 3 4 54
  4. The NIP7 protein is required for accurate pre-rRNA processing in human cells. (PMID: 20798176) Morello LG … Zanchin NI (Nucleic acids research 2011) 2 3 54
  5. The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels. (PMID: 17643419) Hesling C … Zanchin NI (Experimental cell research 2007) 3 4 54

Products for NIP7 Gene

Sources for NIP7 Gene