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    BMF Bcl2 modifying factor [ Homo sapiens (human) ]

    Gene ID: 90427, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BMFprovided by HGNC
    Official Full Name
    Bcl2 modifying factorprovided by HGNC
    Primary source
    HGNC:HGNC:24132
    See related
    Ensembl:ENSG00000104081 MIM:606266; AllianceGenome:HGNC:24132
    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
    Summary
    The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 8.6), bone marrow (RPKM 8.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BMF in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40087890..40108879, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (37894726..37915713, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40380091..40401080, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40331346-40332290 Neighboring gene SRP14 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40347031-40347610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40354716-40355551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9228 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:40360521-40360704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9229 Neighboring gene uncharacterized LOC105370787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40369263-40369763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40374533-40375217 Neighboring gene VISTA enhancer hs1611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40389627-40390140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40395438-40396002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40396003-40396568 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:40397101-40397293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9234 Neighboring gene Sharpr-MPRA regulatory region 12469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40399683-40400378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40408513-40409016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40415539-40416154 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40416155-40416770 Neighboring gene MT-ND5 pseudogene 37 Neighboring gene MT-ND4 pseudogene 37

    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. Bmf is upregulated by PS-341-mediated cell death of glioma cells through JNK phosphorylation. Tianhu Z, et al. Mol Biol Rep, 2010 Mar. PMID 19267218
    2. Bmf contributes to histone deacetylase inhibitor-mediated enhancing effects on apoptosis after ionizing radiation. Zhang Y, et al. Apoptosis, 2006 Aug. PMID 16830229
    3. BCL-2 modifying factor (BMF) is a central regulator of anoikis in human intestinal epithelial cells. Hausmann M, et al. J Biol Chem, 2011 Jul 29. PMID 21673109, Free PMC Article
    4. Bim and Bmf synergize to induce apoptosis in Neisseria gonorrhoeae infection. Kepp O, et al. PLoS Pathog, 2009 Mar. PMID 19300516, Free PMC Article
    5. Bim and Bmf in tissue homeostasis and malignant disease. Piñon JD, et al. Oncogene, 2008 Dec. PMID 19641506, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FBW7 suppresses ovarian cancer development by targeting the N(6)-methyladenosine binding protein YTHDF2.
      Title: FBW7 suppresses ovarian cancer development by targeting the N(6)-methyladenosine binding protein YTHDF2.
    2. The transcription factor IRF4 represses proapoptotic BMF and BIM to licence multiple myeloma survival.
      Title: The transcription factor IRF4 represses proapoptotic BMF and BIM to licence multiple myeloma survival.
    3. Characterization of an alternative BAK-binding site for BH3 peptides.
      Title: Characterization of an alternative BAK-binding site for BH3 peptides.
    4. The findings are consistent with rs539846 influencing chronic lymphocytic leukemia (CLL) susceptibility through differential RELA binding, with direct modulation of BMF expression impacting on anti-apoptotic BCL2, a hallmark of oncogenic dependency in CLL.
      Title: Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer Polymorphism.
    5. Reciprocal regulation of BMF and BIRC5 is linked to Eomes overexpression in colorectal cancer.
      Title: Reciprocal regulation of BMF and BIRC5 (Survivin) linked to Eomes overexpression in colorectal cancer.
    6. Early generated B1 B cells with restricted BCRs become chronic lymphocytic leukemia with continued c-Myc and low Bmf expression
      Title: Early generated B1 B cells with restricted BCRs become chronic lymphocytic leukemia with continued c-Myc and low Bmf expression.
    7. these findings suggest that p53-R273H can specifically drive AKT signaling and suppress BMF expression, resulting in enhanced cell survivability and anoikis resistance.
      Title: Mutant p53-R273H mediates cancer cell survival and anoikis resistance through AKT-dependent suppression of BCL2-modifying factor (BMF).
    8. On the corresponding BMF gene promoter, loss of HDAC8 was associated with signal transducer and activator of transcription 3 (STAT3)/specificity protein 3 (Sp3) transcription factor exchange and recruitment of p300.
      Title: HDAC8 and STAT3 repress BMF gene activity in colon cancer cells.
    9. Overexpression of ApoL2 did not induce cell death on its own. ApoL2 did not sensitize or protect cells from overexpression of the BH3-only proteins Bmf or Noxa.
      Title: Apolipoprotein L2 contains a BH3-like domain but it does not behave as a BH3-only protein.
    10. Diva binds peptides derived from the BH3 domain of several other proapoptotic Bcl-2 proteins, including mouse Harakiri, Bid, Bak and Bmf.
      Title: Nuclear magnetic resonance study of protein-protein interactions involving apoptosis regulator Diva (Boo) and the BH3 domain of proapoptotic Bcl-2 members.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
    EBI GWAS Catalog
    Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00065

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within anoikis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to UV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein-containing complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of release of cytochrome c from mitochondria ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of myosin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of myosin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    bcl-2-modifying factor

    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_001003940.2 → NP_001003940.1  bcl-2-modifying factor isoform bmf-1

      See identical proteins and their annotated locations for NP_001003940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Transcript variants 1 and 2 encode the longest isoform (bmf-1).
      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Related
      ENSP00000346697.4, ENST00000354670.9
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    2. NM_001003942.2 → NP_001003942.1  bcl-2-modifying factor isoform bmf-2

      See identical proteins and their annotated locations for NP_001003942.1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS45223.1
      UniProtKB/Swiss-Prot
      Q96LC9
      Related
      ENSP00000396511.3, ENST00000431415.3
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 163
      BMF; Bcl-2-modifying factor, apoptosis

    3. NM_001003943.3 → NP_001003943.1  bcl-2-modifying factor isoform bmf-3

      See identical proteins and their annotated locations for NP_001003943.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame coding exon, compared to variant 1. It encodes a shorter isoform (bmf-3), compared to isoform bmf-1.
      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS32196.1
      UniProtKB/Swiss-Prot
      Q96LC9
      Related
      ENSP00000453919.1, ENST00000559701.5
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 129
      BMF; Bcl-2-modifying factor, apoptosis

    4. NM_001398495.1 → NP_001385424.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    5. NM_001398496.1 → NP_001385425.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    6. NM_001398497.1 → NP_001385426.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    7. NM_001398498.1 → NP_001385427.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    8. NM_001398499.1 → NP_001385428.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    9. NM_001398500.1 → NP_001385429.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    10. NM_001398501.1 → NP_001385430.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    11. NM_001398502.1 → NP_001385431.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    12. NM_001398503.1 → NP_001385432.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    13. NM_001398504.1 → NP_001385433.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    14. NM_001398505.1 → NP_001385434.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    15. NM_001398506.1 → NP_001385435.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    16. NM_001398507.1 → NP_001385436.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Related
      ENSP00000453892.1, ENST00000561360.5
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    17. NM_001398508.1 → NP_001385437.1  bcl-2-modifying factor isoform bmf-3

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS32196.1
      Related
      ENSP00000453913.1, ENST00000558774.5
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 129
      BMF; Bcl-2-modifying factor, apoptosis

    18. NM_001398509.1 → NP_001385438.1  bcl-2-modifying factor isoform bmf-3

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS32196.1
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 129
      BMF; Bcl-2-modifying factor, apoptosis

    19. NM_001398510.1 → NP_001385439.1  bcl-2-modifying factor isoform bmf-3

      Status: REVIEWED

      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS32196.1
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 129
      BMF; Bcl-2-modifying factor, apoptosis

    20. NM_033503.4 → NP_277038.1  bcl-2-modifying factor isoform bmf-1

      See identical proteins and their annotated locations for NP_277038.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Transcript variants 1 and 2 encode the longest isoform (bmf-1).
      Source sequence(s)
      AC021755
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
      Related
      ENSP00000380703.1, ENST00000397573.5
      Conserved Domains (1) summary
      pfam15185
      Location:2 → 184
      BMF; Bcl-2-modifying factor, apoptosis

    RNA

    1. NR_174113.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021755

    2. NR_174114.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021755

    3. NR_174115.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021755

    4. NR_174116.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021755

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40087890..40108879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      37894726..37915713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LC9.1 GenPept UniProtKB/Swiss-Prot:Q96LC9

    Gene LinkOut

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

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