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    NUTM1 NUT midline carcinoma family member 1 [ Homo sapiens (human) ]

    Gene ID: 256646, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NUTM1provided by HGNC
    Official Full Name
    NUT midline carcinoma family member 1provided by HGNC
    Primary source
    HGNC:HGNC:29919
    See related
    Ensembl:ENSG00000184507 MIM:608963; AllianceGenome:HGNC:29919
    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
    NUT; FAM22H; C15orf55
    Summary
    Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 8.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See NUTM1 in Genome Data Viewer
    Location:
    15q14
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (34343315..34357735)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (32141620..32158194)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (34635516..34649936)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 6 Neighboring gene uncharacterized LOC124903461 Neighboring gene MPRA-validated peak2292 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:34585393-34585612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6280 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:34645972-34647171 Neighboring gene NOP10 ribonucleoprotein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6283 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:34659557-34660552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9181 Neighboring gene lysophosphatidylcholine acyltransferase 4 Neighboring gene actin gamma 1 pseudogene 15

    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. NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations. Lemelle L, et al. J Pediatr Hematol Oncol, 2023 May 1. PMID 36219702
    2. Clinicopathologic features of an MXI1::NUTM1 fusion neoplasm; a new molecular variant of the family of NUTM1-rearranged neoplasm. Duan FL, et al. Histopathology, 2022 Oct. PMID 35791777
    3. NUT carcinoma, an under-recognized malignancy: a clinicopathologic and molecular series of 6 cases showing a subset of patients with better prognosis and a rare ZNF532::NUTM1 fusion. Abreu RF, et al. Hum Pathol, 2022 Aug. PMID 35623465
    4. Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study. Boer JM, et al. Leukemia, 2021 Oct. PMID 34211097, Free PMC Article
    5. NUT Is a Specific Immunohistochemical Marker for the Diagnosis of YAP1-NUTM1-rearranged Cutaneous Poroid Neoplasms. Macagno N, et al. Am J Surg Pathol, 2021 Sep 1. PMID 33739783

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Primary pulmonary NUT carcinoma: a clinicopathological analysis of seven cases].
      Title: [Primary pulmonary NUT carcinoma: a clinicopathological analysis of seven cases].
    2. The expanding universe of NUTM1 fusions in pediatric cancer.
      Title: The expanding universe of NUTM1 fusions in pediatric cancer.
    3. NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations.
      Title: NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations.
    4. Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma.
      Title: Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma.
    5. Clinicopathologic features of an MXI1::NUTM1 fusion neoplasm; a new molecular variant of the family of NUTM1-rearranged neoplasm.
      Title: Clinicopathologic features of an MXI1::NUTM1 fusion neoplasm; a new molecular variant of the family of NUTM1-rearranged neoplasm.
    6. NUT carcinoma, an under-recognized malignancy: a clinicopathologic and molecular series of 6 cases showing a subset of patients with better prognosis and a rare ZNF532::NUTM1 fusion.
      Title: NUT carcinoma, an under-recognized malignancy: a clinicopathologic and molecular series of 6 cases showing a subset of patients with better prognosis and a rare ZNF532::NUTM1 fusion.
    7. CIC-NUTM1 Sarcomas Affecting the Spine.
      Title: CIC-NUTM1 Sarcomas Affecting the Spine.
    8. NUT carcinoma of the parotid gland: report of two cases, one with a rare ZNF532-NUTM1 fusion.
      Title: NUT carcinoma of the parotid gland: report of two cases, one with a rare ZNF532-NUTM1 fusion.
    9. NUTM1-rearranged colorectal sarcoma: a clinicopathologically and genetically distinctive malignant neoplasm with a poor prognosis.
      Title: NUTM1-rearranged colorectal sarcoma: a clinicopathologically and genetically distinctive malignant neoplasm with a poor prognosis.
    10. Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study.
      Title: Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    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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    Homology

    Clone Names

    • MGC138683, MGC138684, DKFZp434O192

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    NUT family member 1
    Names
    NAP1L4/NUTM1D fusion
    NAP1L4/NUTM1D fusion protein
    nuclear protein in testis

    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_001284292.2 → NP_001271221.2  NUT family member 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC021822, AC025678
      Consensus CDS
      CCDS61585.1
      Related
      ENSP00000444896.1, ENST00000537011.6
      Conserved Domains (1) summary
      pfam12881
      Location:42 → 608
      NUT; NUT protein

    2. NM_001284293.2 → NP_001271222.2  NUT family member 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC021822, AC025678
      Consensus CDS
      CCDS61584.1
      Related
      ENSP00000407031.3, ENST00000438749.7
      Conserved Domains (1) summary
      pfam12881
      Location:32 → 592
      NUT; NUT protein

    3. NM_175741.3 → NP_786883.2  NUT family member 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC021822, AC025678
      Consensus CDS
      CCDS32190.1
      UniProtKB/Swiss-Prot
      B4DZ00, B7Z7Y4, E7EVE8, F5H4I6, Q86Y26, Q8N7F2, Q9NTB3
      Related
      ENSP00000329448.4, ENST00000333756.5
      Conserved Domains (1) summary
      pfam12881
      Location:14 → 574
      NUT; NUT protein

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      34343315..34357735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432341.1 → XP_047288297.1  NUT family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B4DZ00, B7Z7Y4, E7EVE8, F5H4I6, Q86Y26, Q8N7F2, Q9NTB3

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791798.1 Reference GRCh38.p14 PATCHES

      Range
      82056..98561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333184.1 → XP_054189159.1  NUT family member 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      32141620..32158194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377670.1 → XP_054233645.1  NUT family member 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86Y26.2 GenPept UniProtKB/Swiss-Prot:Q86Y26

    Gene LinkOut

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

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