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ENOSF1 enolase superfamily member 1 [ Homo sapiens (human) ]

Gene ID: 55556, updated on 3-Apr-2024

Summary

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Official Symbol
ENOSF1provided by HGNC
Official Full Name
enolase superfamily member 1provided by HGNC
Primary source
HGNC:HGNC:30365
See related
Ensembl:ENSG00000132199 MIM:607427; AllianceGenome:HGNC:30365
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RTS; FUCD; TYMSAS
Summary
This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in bone marrow (RPKM 9.5), kidney (RPKM 9.5) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ENOSF1 in Genome Data Viewer
Location:
18p11.32
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (662986..712630, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (824595..867052, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (670318..712630, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene clusterin like 1 Neighboring gene uncharacterized LOC105371952 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:641155-642354 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:657377-657878 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:657879-658378 Neighboring gene TYMS opposite strand RNA Neighboring gene thymidylate synthetase Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:686134-686722 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:697612-697744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:712826-713405 Neighboring gene Sharpr-MPRA regulatory region 6782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13022 Neighboring gene YES proto-oncogene 1, Src family tyrosine kinase Neighboring gene RNA, U1 small nuclear 109, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9244 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:812361-812903 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:812904-813445 Neighboring gene NANOG hESC enhancer GRCh37_chr18:830325-830891 Neighboring gene bolA family member 2 pseudogene 1

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. Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ. Wichelecki DJ, et al. Biochemistry, 2014 Apr 29. PMID 24697329, Free PMC Article
  2. A novel function for the rTS gene. Dolnick BJ, et al. Cancer Biol Ther, 2003 Jul-Aug. PMID 14508106
  3. Recent advances in the study of rTS proteins. rTS expression during growth and in response to thymidylate synthase inhibitors in human tumor cells. Dolnick BJ, et al. Adv Enzyme Regul, 1997. PMID 9381988
  4. Alternate splicing of the rTS gene product and its overexpression in a 5-fluorouracil-resistant cell line. Dolnick BJ, et al. Cancer Res, 1996 Jul 15. PMID 8764108
  5. Cloning and characterization of a naturally occurring antisense RNA to human thymidylate synthase mRNA. Dolnick BJ. Nucleic Acids Res, 1993 Apr 25. PMID 8493092, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients.
    Title: Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients.
  2. Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis.
    Title: Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis.
  3. No significant association has been found between rs495139 in the TYMS-ENOSF1 region and risk of ovarian carcinoma of mucinous histology. (Meta-analysis)
    Title: rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.
  4. The suitability of the present method for gastric serum proteomic analysis was demonstrated and led to the identification of two peptide regions the expression of the SERPINA1 and ENOSF1
    Title: Identification of peptide regions of SERPINA1 and ENOSF1 and their protein expression as potential serum biomarkers for gastric cancer.
  5. The toxicity polymorphism in the TYMS region may actually act through ENOSF1
    Title: A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.
  6. A reverse thymidylate synthase gamma is an l-fuconate dehydratase and its high-resolution crystal structure was determined.
    Title: Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ.
  7. Observational study of genotype prevalence. (HuGE Navigator)
    Title: Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.
  9. Observational study of genetic testing. (HuGE Navigator)
    Title: High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism.
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

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-fuconate dehydratase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hydro-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in amino acid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in carbohydrate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in carbohydrate catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
mitochondrial enolase superfamily member 1
Names
L-fuconate dehydratase
antisense RNA to thymidylate synthase
NP_001305689.1
NP_001340994.1
NP_001340995.1
NP_001340996.1
NP_001340997.1
NP_059982.2
NP_974487.2
XP_024306969.1
XP_024306970.2
XP_024306971.1
XP_024306972.2
XP_024306976.1
XP_024306977.1
XP_024306978.1
XP_047293567.1
XP_047293568.1
XP_047293569.1
XP_047293570.1
XP_047293571.1
XP_047293572.1
XP_047293573.1
XP_047293574.1
XP_047293575.1
XP_047293576.1
XP_047293577.1
XP_047293578.1
XP_054174756.1
XP_054174757.1
XP_054174758.1
XP_054174759.1
XP_054174760.1
XP_054174761.1
XP_054174762.1
XP_054174763.1
XP_054174764.1
XP_054174765.1
XP_054174766.1
XP_054174767.1
XP_054174768.1
XP_054174769.1
XP_054174770.1
XP_054174771.1
XP_054174772.1
XP_054174773.1
XP_054174774.1
XP_054174775.1

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_001318760.2 → NP_001305689.1  mitochondrial enolase superfamily member 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP001178, BF591232, BP265528, BX648215
    UniProtKB/Swiss-Prot
    Q7L5Y1
    Conserved Domains (1) summary
    cl25395
    Location:1 → 238
    enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

  2. NM_001354065.2 → NP_001340994.1  mitochondrial enolase superfamily member 1 isoform rTSalpha

    Status: REVIEWED

    Source sequence(s)
    AP001178
    Consensus CDS
    CCDS45821.1
    Related
    ENSP00000373072.3, ENST00000383578.7
    Conserved Domains (1) summary
    cl25395
    Location:19 → 337
    enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

  3. NM_001354066.2 → NP_001340995.1  mitochondrial enolase superfamily member 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP001178
    Conserved Domains (1) summary
    cd03324
    Location:4 → 405
    rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

  4. NM_001354067.2 → NP_001340996.1  mitochondrial enolase superfamily member 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP001178
    Conserved Domains (1) summary
    cd03324
    Location:4 → 467
    rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

  5. NM_001354068.2 → NP_001340997.1  mitochondrial enolase superfamily member 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AP001178
    Conserved Domains (1) summary
    cl25395
    Location:4 → 390
    enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

  6. NM_017512.7 → NP_059982.2  mitochondrial enolase superfamily member 1 isoform rTSbeta

    See identical proteins and their annotated locations for NP_059982.2

    Status: REVIEWED

    Source sequence(s)
    AP001178, BC001285
    Consensus CDS
    CCDS11822.1
    UniProtKB/Swiss-Prot
    A6NMP3, A8K9R5, B3KSL6, B3KXE4, D3DUH0, Q15407, Q15594, Q15595, Q6ZS08, Q7L5Y1, Q9HAS5, Q9HAS6
    Related
    ENSP00000497230.2, ENST00000647584.2
    Conserved Domains (1) summary
    cd03324
    Location:4 → 419
    rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

  7. NM_202758.5 → NP_974487.2  mitochondrial enolase superfamily member 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP001178, AW001055, BC001285, BG762286, DB242380
    Consensus CDS
    CCDS11823.2
    UniProtKB/TrEMBL
    A0A3F2YNX7
    Related
    ENSP00000345974.8, ENST00000340116.12
    Conserved Domains (1) summary
    cd03324
    Location:4 → 453
    rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

RNA

  1. NR_148706.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001178, BP265528, BQ006646, BQ017246, X67098

  2. NR_148707.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK292780, AP001178, BQ006646

  3. NR_148708.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001178

  4. NR_148709.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001178

  5. NR_148710.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001178

  6. NR_148711.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001178

  7. NR_148712.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001178

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    662986..712630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437611.1 → XP_047293567.1  mitochondrial enolase superfamily member 1 isoform X1

  2. XM_047437621.1 → XP_047293577.1  mitochondrial enolase superfamily member 1 isoform X17

  3. XM_024451208.2 → XP_024306976.1  mitochondrial enolase superfamily member 1 isoform X9

    Conserved Domains (1) summary
    cl25395
    Location:4 → 344
    enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

  4. XM_024451209.2 → XP_024306977.1  mitochondrial enolase superfamily member 1 isoform X10

    UniProtKB/TrEMBL
    J3QL81
    Related
    ENSP00000463425.1, ENST00000580982.5
    Conserved Domains (1) summary
    cl25395
    Location:4 → 343
    enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

  5. XM_047437614.1 → XP_047293570.1  mitochondrial enolase superfamily member 1 isoform X8

  6. XM_024451210.2 → XP_024306978.1  mitochondrial enolase superfamily member 1 isoform X11

    Conserved Domains (1) summary
    cl25395
    Location:19 → 342
    enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

  7. XM_047437612.1 → XP_047293568.1  mitochondrial enolase superfamily member 1 isoform X5

  8. XM_024451203.2 → XP_024306971.1  mitochondrial enolase superfamily member 1 isoform X4

    Conserved Domains (1) summary
    cd03324
    Location:4 → 411
    rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

  9. XM_024451201.2 → XP_024306969.1  mitochondrial enolase superfamily member 1 isoform X2

    Conserved Domains (1) summary
    cd03324
    Location:4 → 424
    rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

  10. XM_047437613.1 → XP_047293569.1  mitochondrial enolase superfamily member 1 isoform X6

  11. XM_024451204.2 → XP_024306972.2  mitochondrial enolase superfamily member 1 isoform X7

  12. XM_024451202.2 → XP_024306970.2  mitochondrial enolase superfamily member 1 isoform X3

  13. XM_047437617.1 → XP_047293573.1  mitochondrial enolase superfamily member 1 isoform X14

  14. XM_047437618.1 → XP_047293574.1  mitochondrial enolase superfamily member 1 isoform X15

  15. XM_047437620.1 → XP_047293576.1  mitochondrial enolase superfamily member 1 isoform X17

  16. XM_047437616.1 → XP_047293572.1  mitochondrial enolase superfamily member 1 isoform X13

  17. XM_047437615.1 → XP_047293571.1  mitochondrial enolase superfamily member 1 isoform X12

  18. XM_047437619.1 → XP_047293575.1  mitochondrial enolase superfamily member 1 isoform X16

  19. XM_047437622.1 → XP_047293578.1  mitochondrial enolase superfamily member 1 isoform X18

RNA

  1. XR_007066189.1 RNA Sequence

  2. XR_007066188.1 RNA Sequence

  3. XR_007066190.1 RNA Sequence

  4. XR_007066185.1 RNA Sequence

  5. XR_007066186.1 RNA Sequence

  6. XR_007066184.1 RNA Sequence

  7. XR_007066183.1 RNA Sequence

  8. XR_007066187.1 RNA Sequence

  9. XR_430041.5 RNA Sequence

  10. XR_007066181.1 RNA Sequence

  11. XR_007066182.1 RNA Sequence

  12. XR_007066192.1 RNA Sequence

  13. XR_007066191.1 RNA Sequence

  14. XR_007066193.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    824595..867052 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318784.1 → XP_054174759.1  mitochondrial enolase superfamily member 1 isoform X22

  2. XM_054318782.1 → XP_054174757.1  mitochondrial enolase superfamily member 1 isoform X20

  3. XM_054318783.1 → XP_054174758.1  mitochondrial enolase superfamily member 1 isoform X21

  4. XM_054318781.1 → XP_054174756.1  mitochondrial enolase superfamily member 1 isoform X19

  5. XM_054318799.1 → XP_054174774.1  mitochondrial enolase superfamily member 1 isoform X17

  6. XM_054318793.1 → XP_054174768.1  mitochondrial enolase superfamily member 1 isoform X9

  7. XM_054318794.1 → XP_054174769.1  mitochondrial enolase superfamily member 1 isoform X10

    UniProtKB/TrEMBL
    J3QL81

  8. XM_054318795.1 → XP_054174770.1  mitochondrial enolase superfamily member 1 isoform X27

  9. XM_054318792.1 → XP_054174767.1  mitochondrial enolase superfamily member 1 isoform X8

  10. XM_054318787.1 → XP_054174762.1  mitochondrial enolase superfamily member 1 isoform X5

  11. XM_054318786.1 → XP_054174761.1  mitochondrial enolase superfamily member 1 isoform X4

  12. XM_054318785.1 → XP_054174760.1  mitochondrial enolase superfamily member 1 isoform X2

  13. XM_054318788.1 → XP_054174763.1  mitochondrial enolase superfamily member 1 isoform X23

  14. XM_054318789.1 → XP_054174764.1  mitochondrial enolase superfamily member 1 isoform X24

  15. XM_054318797.1 → XP_054174772.1  mitochondrial enolase superfamily member 1 isoform X14

  16. XM_054318800.1 → XP_054174775.1  mitochondrial enolase superfamily member 1 isoform X17

  17. XM_054318798.1 → XP_054174773.1  mitochondrial enolase superfamily member 1 isoform X17

  18. XM_054318790.1 → XP_054174765.1  mitochondrial enolase superfamily member 1 isoform X25

  19. XM_054318791.1 → XP_054174766.1  mitochondrial enolase superfamily member 1 isoform X26

  20. XM_054318796.1 → XP_054174771.1  mitochondrial enolase superfamily member 1 isoform X28

RNA

  1. XR_008485006.1 RNA Sequence

  2. XR_008485007.1 RNA Sequence

  3. XR_008485005.1 RNA Sequence

  4. XR_008485014.1 RNA Sequence

  5. XR_008485013.1 RNA Sequence

  6. XR_008485015.1 RNA Sequence

  7. XR_008485010.1 RNA Sequence

  8. XR_008485011.1 RNA Sequence

  9. XR_008485008.1 RNA Sequence

  10. XR_008485012.1 RNA Sequence

  11. XR_008485017.1 RNA Sequence

  12. XR_008485004.1 RNA Sequence

  13. XR_008485009.1 RNA Sequence

  14. XR_008485016.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001126123.3: Suppressed sequence

    Description
    NM_001126123.3: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_001318759.1: Suppressed sequence

    Description
    NM_001318759.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7L5Y1.1 GenPept UniProtKB/Swiss-Prot:Q7L5Y1

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