Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008] See more...

Aliases for NT5C1B Gene

Aliases for NT5C1B Gene

  • 5'-Nucleotidase, Cytosolic IB 2 3 5
  • Autoimmune Infertility-Related Protein 3 4
  • Cytosolic 5'-Nucleotidase 1B 3 4
  • CN-IB 3 4
  • CN1B 3 4
  • AIRP 3 4
  • Testicular Tissue Protein Li 1 3
  • Cytosolic 5'-Nucleotidase IB 4
  • EC 3.1.3.5 4

External Ids for NT5C1B Gene

Previous GeneCards Identifiers for NT5C1B Gene

  • GC02M018630
  • GC02M018711
  • GC02M018728
  • GC02M018657
  • GC02M018665
  • GC02M018599
  • GC02M018607
  • GC02M018744

Summaries for NT5C1B Gene

Entrez Gene Summary for NT5C1B Gene

  • Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008]

GeneCards Summary for NT5C1B Gene

NT5C1B (5'-Nucleotidase, Cytosolic IB) is a Protein Coding gene. Diseases associated with NT5C1B include Pregnancy Adenoma and Coenurosis. Among its related pathways are ATP/ITP metabolism and NAD metabolism. Gene Ontology (GO) annotations related to this gene include nucleotide binding and 5'-nucleotidase activity. An important paralog of this gene is NT5C1B-RDH14.

UniProtKB/Swiss-Prot Summary for NT5C1B Gene

  • Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides. Helps to regulate adenosine levels (By similarity).

Additional gene information for NT5C1B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NT5C1B Gene

Genomics for NT5C1B Gene

GeneHancer (GH) Regulatory Elements for NT5C1B Gene

Promoters and enhancers for NT5C1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J018589 Promoter/Enhancer 0.7 EPDnew Ensembl 500.7 +0.3 279 1 ATF2 ATF7 NT5C1B NT5C1B-RDH14 lnc-NT5C1B-RDH14-1 RNU6-1215P RF00026-521 LOC105373456
GH02J018584 Promoter 0.3 EPDnew 500.7 +4.9 4928 0.1 RF00026-521 NT5C1B RNU6-1215P NT5C1B-RDH14 lnc-NT5C1B-RDH14-1 LOC105373456
GH02J018588 Enhancer 0.2 Ensembl 500.7 +1.3 1279 0.6 NT5C1B NT5C1B-RDH14 lnc-NT5C1B-RDH14-1 RF00026-521 RNU6-1215P LOC105373456
GH02J018559 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 +29.3 29279 2.6 ZNF217 EP300 SIN3A TCF12 NRF1 MYC POLR2G USF1 SP1 GTF2E2 RDH14 NT5C1B NT5C1B-RDH14 lnc-KCNS3-1
GH02J018623 Enhancer 0.9 FANTOM5 Ensembl ENCODE 18.8 -35.9 -35921 5 JUND FOS EZH2 GATA2 POLR2A SIN3A TAF1 CEBPB STAT3 NT5C1B RNU6-1215P NT5C1B-RDH14 OSR1 piR-31534-380 LOC105373456
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NT5C1B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NT5C1B

Top Transcription factor binding sites by QIAGEN in the NT5C1B gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Evi-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v3

Genomic Locations for NT5C1B Gene

Genomic Locations for NT5C1B Gene
chr2:18,562,871-18,589,580
(GRCh38/hg38)
Size:
26,710 bases
Orientation:
Minus strand
chr2:18,737,050-18,770,846
(GRCh37/hg19)
Size:
33,797 bases
Orientation:
Minus strand

Genomic View for NT5C1B Gene

Genes around NT5C1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NT5C1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NT5C1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NT5C1B Gene

Proteins for NT5C1B Gene

  • Protein details for NT5C1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96P26-5NT1B_HUMAN
    Recommended name:
    Cytosolic 5'-nucleotidase 1B
    Protein Accession:
    Q96P26
    Secondary Accessions:
    • B5MCR0
    • B7ZVX7
    • Q53RX2
    • Q8N9W3
    • Q8NA26
    • Q96DU5
    • Q96KE6
    • Q96M25
    • Q96SA3

    Protein attributes for NT5C1B Gene

    Size:
    610 amino acids
    Molecular mass:
    68804 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK39108.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAK83285.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC04103.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC44363.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NT5C1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NT5C1B Gene

Post-translational modifications for NT5C1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NT5C1B Gene

Domains & Families for NT5C1B Gene

Gene Families for NT5C1B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NT5C1B Gene

Blocks:
  • 5-nucleotidase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NT5C1B Gene

GenScript: Design optimal peptide antigens:
  • Cytosolic 5'-nucleotidase IB (5NT1B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96P26

UniProtKB/Swiss-Prot:

5NT1B_HUMAN :
  • Belongs to the 5'-nucleotidase type 3 family.
Family:
  • Belongs to the 5'-nucleotidase type 3 family.
genes like me logo Genes that share domains with NT5C1B: view

Function for NT5C1B Gene

Molecular function for NT5C1B Gene

UniProtKB/Swiss-Prot Function:
Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides. Helps to regulate adenosine levels (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate; Xref=Rhea:RHEA:12484, ChEBI:CHEBI:15377, ChEBI:CHEBI:18254, ChEBI:CHEBI:43474, ChEBI:CHEBI:58043; EC=3.1.3.5;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by ADP.

Enzyme Numbers (IUBMB) for NT5C1B Gene

Phenotypes From GWAS Catalog for NT5C1B Gene

Gene Ontology (GO) - Molecular Function for NT5C1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0008253 5'-nucleotidase activity TAS,IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with NT5C1B: view
genes like me logo Genes that share phenotypes with NT5C1B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NT5C1B

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NT5C1B Gene

Localization for NT5C1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for NT5C1B Gene

Cytoplasm.

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 NT5C1B gene
Compartment Confidence
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NT5C1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NT5C1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NT5C1B Gene

Pathways & Interactions for NT5C1B Gene

PathCards logo

SuperPathways for NT5C1B Gene

genes like me logo Genes that share pathways with NT5C1B: view

Pathways by source for NT5C1B Gene

2 GeneGo (Thomson Reuters) pathways for NT5C1B Gene
  • ATP/ITP metabolism
  • NAD metabolism

Interacting Proteins for NT5C1B Gene

;

Gene Ontology (GO) - Biological Process for NT5C1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006195 purine nucleotide catabolic process TAS --
GO:0009117 nucleotide metabolic process IEA --
GO:0016311 dephosphorylation IEA --
GO:0046085 adenosine metabolic process IBA 21873635
genes like me logo Genes that share ontologies with NT5C1B: view

No data available for SIGNOR curated interactions for NT5C1B Gene

Drugs & Compounds for NT5C1B Gene

(20) Drugs for NT5C1B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Agonist, Channel blocker 642
Cytarabine Approved, Experimental, Investigational Pharma 1324
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(11) Additional Compounds for NT5C1B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
deoxyadenosine
  • (2R,3S,5R)-5-(6-amino-9H-Purin-9-yl)-2-(hydroxymethyl)tetrahydrofuran-3-ol
  • 5-(6-amino-PURIN-9-yl)-2-hydroxymethyl-tetrahydro-furan-3-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)adenine
  • 9-(2-Deoxy-beta-D-ribofuranosyl)-9H-purin-6-amine
  • Adenine deoxyribonucleoside
958-09-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenosine monophosphate
  • 2'-Deoxy-AMP
  • 2'-Deoxyadenosine 5'-(dihydrogen phosphate)
  • 2'-Deoxyadenosine 5'-monophosphate
653-63-4
deoxyguanosine
  • 2-amino-9-(2-Deoxy-9-beta-D-ribofuranosyl)-9H-purin-6-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)-guanine
  • dG
  • Guanine deoxy nucleoside
  • 2-amino-9-(2-Deoxy-9-b-D-ribofuranosyl)-9H-purin-6-ol
961-07-9
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphonato-beta-D-ribofuranosyl)pyridinium
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-D-ribofuranosyl)pyridinium, inner salt
  • beta-Nicotinamide D-ribonucleotide
  • beta-Nicotinamide mononucleotide
  • beta-Nicotinamide ribonucleotide
1094-61-7
genes like me logo Genes that share compounds with NT5C1B: view

Transcripts for NT5C1B Gene

mRNA/cDNA for NT5C1B Gene

5 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NT5C1B

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NT5C1B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5: -
SP6:
SP7:

Relevant External Links for NT5C1B Gene

GeneLoc Exon Structure for
NT5C1B

Expression for NT5C1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NT5C1B Gene

mRNA differential expression in normal tissues according to GTEx for NT5C1B Gene

This gene is overexpressed in Testis (x53.0).

Protein differential expression in normal tissues from HIPED for NT5C1B Gene

This gene is overexpressed in Serum (38.9) and Plasma (27.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NT5C1B Gene



Protein tissue co-expression partners for NT5C1B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NT5C1B

SOURCE GeneReport for Unigene cluster for NT5C1B Gene:

Hs.744358

mRNA Expression by UniProt/SwissProt for NT5C1B Gene:

Q96P26-5NT1B_HUMAN
Tissue specificity: Highly expressed in testis, placenta and pancreas. Detected at lower levels in heart, kidney, liver and lung.
genes like me logo Genes that share expression patterns with NT5C1B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NT5C1B Gene

Orthologs for NT5C1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for NT5C1B Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia NT5C1B 30
  • 86.26 (n)
-- 31
  • 53 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NT5C1B 30
  • 81.67 (n)
-- 31
  • 70 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nt5c1b 17 31 30
  • 77.42 (n)
rat
(Rattus norvegicus)
Mammalia Nt5c1b 30
  • 76.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves NT5C1B 30
  • 75.08 (n)
-- 31
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nt5c1a 30
  • 68.73 (n)
zebrafish
(Danio rerio)
Actinopterygii nt5c1bb 31 30
  • 66.05 (n)
ManyToMany
nt5c1ba 31
  • 59 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
Cin.12354 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12354 30
Species where no ortholog for NT5C1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NT5C1B Gene

ENSEMBL:
Gene Tree for NT5C1B (if available)
TreeFam:
Gene Tree for NT5C1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NT5C1B: view image

Paralogs for NT5C1B Gene

Paralogs for NT5C1B Gene

(2) SIMAP similar genes for NT5C1B Gene using alignment to 4 proteins:

  • 5NT1B_HUMAN
  • C4AM88_HUMAN
  • C9JW75_HUMAN
  • H7BZQ4_HUMAN
genes like me logo Genes that share paralogs with NT5C1B: view

Variants for NT5C1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NT5C1B Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
710542 Likely Benign: not provided 18,587,155(-) G/C MISSENSE_VARIANT,INTRON_VARIANT
712926 Likely Benign: not provided 18,586,372(-) A/G MISSENSE_VARIANT
725561 Benign: not provided 18,587,144(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
726715 Benign: not provided 18,586,355(-) G/A NONSENSE
731342 Benign: not provided 18,584,907(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NT5C1B Gene

Structural Variations from Database of Genomic Variants (DGV) for NT5C1B Gene

Variant ID Type Subtype PubMed ID
esv2229780 CNV deletion 18987734
esv2751837 CNV gain 17911159
esv3589967 CNV loss 21293372
nsv2624 CNV insertion 18451855
nsv519085 CNV loss 19592680
nsv581114 CNV gain 21841781

Variation tolerance for NT5C1B Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NT5C1B Gene

Human Gene Mutation Database (HGMD)
NT5C1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NT5C1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NT5C1B Gene

Disorders for NT5C1B Gene

MalaCards: The human disease database

(11) MalaCards diseases for NT5C1B Gene - From: DISEASES

Disorder Aliases PubMed IDs
pregnancy adenoma
  • lactating adenoma
coenurosis
  • coenuriasis
breast adenoma
  • ademoma - breast
urogenital tuberculosis
  • genitourinary tuberculosis
intravenous leiomyomatosis
  • leiomyomatosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NT5C1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NT5C1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NT5C1B Gene

Publications for NT5C1B Gene

  1. Cloning of a mouse cytosolic 5'-nucleotidase-I identifies a new gene related to human autoimmune infertility-related protein. (PMID: 11690631) Sala-Newby GB … Newby AC (Biochimica et biophysica acta 2001) 2 3 4 54
  2. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 41 54
  3. Contribution of adenosine related genes to the risk of depression with disturbed sleep. (PMID: 20392501) Gass N … Paunio T (Journal of affective disorders 2010) 3 41 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Agrin has a pathological role in the progression of oral cancer. (PMID: 29872149) Rivera C … Paes Leme AF (British journal of cancer 2018) 3 54

Products for NT5C1B Gene

Sources for NT5C1B Gene