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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
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Genomic context

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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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