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NT5C1B-RDH14 NT5C1B-RDH14 readthrough [ Homo sapiens (human) ]

Gene ID: 100526794, updated on 2-Nov-2024

Summary

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Official Symbol
NT5C1B-RDH14provided by HGNC
Official Full Name
NT5C1B-RDH14 readthroughprovided by HGNC
Primary source
HGNC:HGNC:38831
See related
Ensembl:ENSG00000250741 AllianceGenome:HGNC:38831
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; NT5C1B
Summary
This locus represents naturally occurring read-through transcription between the neighboring NT5C1B (5'-nucleotidase, cytosolic IB) and RDH14 (retinol dehydrogenase 14) genes on chromosome 2. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]
Expression
Broad expression in testis (RPKM 22.8), heart (RPKM 7.0) and 24 other tissues See more
Orthologs
all
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Genomic context

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See NT5C1B-RDH14 in Genome Data Viewer
Location:
2p24.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (18554723..18589569, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (18586834..18621687, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (18735989..18770835, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373451 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:18513234-18513870 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 ATAC-STARR-seq lymphoblastoid active region 15357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11196 Neighboring gene uncharacterized LOC105373456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15359 Neighboring gene RNA, U6 small nuclear 1215, pseudogene Neighboring gene 5'-nucleotidase, cytosolic IB 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 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. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

GeneRIFs: Gene References Into Functions

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

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

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • FLJ32882, FLJ97601

General protein information

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Preferred Names
NT5C1B-RDH14 protein
Names
Cytosolic 5'-nucleotidase 1B
Cytosolic 5'-nucleotidase IB
NT5C1B-RDH14 read-through transcript
NP_001186032.1
NP_001186033.1

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_001199103.2 → NP_001186032.1  NT5C1B-RDH14 protein isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1), which is a fusion protein sharing sequence identity with each individual gene product.
    Source sequence(s)
    AC079148, AK307653
    UniProtKB/TrEMBL
    C9J2C7
    Related
    ENSP00000412639.2, ENST00000444297.2
    Conserved Domains (2) summary
    pfam06189
    Location:279 → 445
    5-nucleotidase; 5'-nucleotidase
    cl21454
    Location:445 → 642
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  2. NM_001199104.2 → NP_001186033.1  NT5C1B-RDH14 protein isoform 2

    See identical proteins and their annotated locations for NP_001186033.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an additional in-frame exon in the 5' coding region, an alternate in-frame splice site in the central coding region, and an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, and it lacks sequence identity with the RDH14 product, compared to isoform 1.
    Source sequence(s)
    AC079148, AK057444
    UniProtKB/TrEMBL
    B4DXZ9
    Related
    ENSP00000433415.1, ENST00000532967.5
    Conserved Domains (1) summary
    pfam06189
    Location:337 → 595
    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
    18554723..18589569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    18586834..18621687 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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