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

    Gene ID: 93034, updated on 27-Nov-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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    See NT5C1B in Genome Data Viewer
    Location:
    2p24.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (18562871..18589569, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (18594985..18621687, complement)
    RS_2024_09 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 (13) 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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