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NT5C1B 5'-nucleotidase, cytosolic IB [ Homo sapiens (human) ]

Gene ID: 93034, updated on 5-Mar-2024

Summary

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Official Symbol
NT5C1Bprovided by HGNC
Official Full Name
5'-nucleotidase, cytosolic IBprovided by HGNC
Primary source
HGNC:HGNC:17818
See related
Ensembl:ENSG00000185013 MIM:610526; AllianceGenome:HGNC:17818
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
AIRP; CN1B; CN-IB
Summary
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]
Expression
Restricted expression toward testis (RPKM 23.0) See more
Orthologs
mouse all
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Genomic context

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Location:
2p24.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (18562871..18589569, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (18594985..18621687, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (18744137..18770835, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11195 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:18633458-18633722 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:18637372-18637948 Neighboring gene MPRA-validated peak3612 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr2:18727890-18728410 Neighboring gene Sharpr-MPRA regulatory region 12735 Neighboring gene NT5C1B-RDH14 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15358 Neighboring gene uncharacterized LOC105373456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15357 Neighboring gene RNA, U6 small nuclear 1215, pseudogene Neighboring gene retinol dehydrogenase 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:18820604-18821104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:18821105-18821605 Neighboring gene Sharpr-MPRA regulatory region 8729 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:18845994-18847193 Neighboring gene NANOG hESC enhancer GRCh37_chr2:18958528-18959297 Neighboring gene long intergenic non-protein coding RNA 1376 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:19258635-19259136 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:19259137-19259636 Neighboring gene uncharacterized LOC124907739 Neighboring gene Sharpr-MPRA regulatory region 11737

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Cloning of a mouse cytosolic 5'-nucleotidase-I identifies a new gene related to human autoimmune infertility-related protein. Sala-Newby GB, et al. Biochim Biophys Acta, 2001 Oct 31. PMID 11690631
  2. Contribution of adenosine related genes to the risk of depression with disturbed sleep. Gass N, et al. J Affect Disord, 2010 Oct. PMID 20392501
  3. Common genetic variation and performance on standardized cognitive tests. Cirulli ET, et al. Eur J Hum Genet, 2010 Jul. PMID 20125193, Free PMC Article
  4. Genetic variants associated with disordered eating. Wade TD, et al. Int J Eat Disord, 2013 Sep. PMID 23568457, Free PMC Article
  5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Contribution of adenosine related genes to the risk of depression with disturbed sleep.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough NT5C1B-RDH14

Readthrough gene: NT5C1B-RDH14, Included gene: RDH14

Homology

Clone Names

  • MGC26640

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5'-nucleotidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 5'-nucleotidase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables 5'-nucleotidase activity TAS
Traceable Author Statement
more info
  
enables XMP 5'-nucleosidase activity IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in adenosine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in purine nucleotide catabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
cytosolic 5'-nucleotidase 1B
Names
autoimmune infertility-related protein
testicular tissue protein Li 1
NP_001002006.1
NP_001186015.1
NP_001186016.1
NP_001186017.1
NP_150278.2

NCBI Reference Sequences (RefSeq)

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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_001002006.3 → NP_001002006.1  cytosolic 5'-nucleotidase 1B isoform 1

    See identical proteins and their annotated locations for NP_001002006.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AA774429, AA974253, AF417165, BC136387, DB054653
    Consensus CDS
    CCDS33150.1
    UniProtKB/Swiss-Prot
    B5MCR0, B7ZVX7, Q53RX2, Q8N9W3, Q8NA26, Q96DU5, Q96KE6, Q96M25, Q96P26, Q96SA3
    UniProtKB/TrEMBL
    A0A140VJC7, B4DXZ9
    Related
    ENSP00000352904.2, ENST00000359846.6
    Conserved Domains (1) summary
    pfam06189
    Location:337 → 595
    5-nucleotidase; 5'-nucleotidase

  2. NM_001199086.2 → NP_001186015.1  cytosolic 5'-nucleotidase 1B isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AA774429, AA974253, AK302200, BC136387, DB054653
    UniProtKB/TrEMBL
    B4DXZ9
    Conserved Domains (1) summary
    pfam06189
    Location:320 → 578
    5-nucleotidase; 5'-nucleotidase

  3. NM_001199087.2 → NP_001186016.1  cytosolic 5'-nucleotidase 1B isoform 4

    See identical proteins and their annotated locations for NP_001186016.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (4) that is longer than isoform 1.
    Source sequence(s)
    AA774429, AA974253, AK302795, BC136387, DB054653
    UniProtKB/TrEMBL
    B4DXZ9, B4DZ86
    Conserved Domains (1) summary
    pfam06189
    Location:354 → 612
    5-nucleotidase; 5'-nucleotidase

  4. NM_001199088.2 → NP_001186017.1  cytosolic 5'-nucleotidase 1B isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (5) that is longer than isoform 1.
    Source sequence(s)
    AA774429, AA974253, BC136387, BC141842, DB054653
    UniProtKB/TrEMBL
    B4DXZ9
    Conserved Domains (1) summary
    pfam06189
    Location:339 → 597
    5-nucleotidase; 5'-nucleotidase

  5. NM_033253.4 → NP_150278.2  cytosolic 5'-nucleotidase 1B isoform 2

    See identical proteins and their annotated locations for NP_150278.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AA774429, AA974253, AK097422, BC136387
    Consensus CDS
    CCDS33149.1
    UniProtKB/TrEMBL
    B3KUK6
    Related
    ENSP00000305979.4, ENST00000304081.9
    Conserved Domains (1) summary
    pfam06189
    Location:277 → 535
    5-nucleotidase; 5'-nucleotidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    18562871..18589569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    18594985..18621687 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96P26.2 GenPept UniProtKB/Swiss-Prot:Q96P26

Gene LinkOut

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