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    EXT1 exostosin glycosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 2131, updated on 3-Nov-2024

    Summary

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    Official Symbol
    EXT1provided by HGNC
    Official Full Name
    exostosin glycosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:3512
    See related
    Ensembl:ENSG00000182197 MIM:608177; AllianceGenome:HGNC:3512
    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
    EXT; LGS; TTV; LGCR; TRPS2
    Summary
    This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in duodenum (RPKM 18.7), small intestine (RPKM 16.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EXT1 in Genome Data Viewer
    Location:
    8q24.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (117794490..118111826, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (118922893..119240285, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (118806729..119124065, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375721 Neighboring gene uncharacterized LOC107986970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:118824531-118825096 Neighboring gene Sharpr-MPRA regulatory region 14285 Neighboring gene EXT1 intron enhancer-blocking element 8-1-1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:118943047-118943604 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:118946090-118946796 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:118946797-118947502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:118969244-118969744 Neighboring gene Sharpr-MPRA regulatory region 8624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19477 Neighboring gene small nucleolar RNA, C/D box 168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27835 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:119030582-119031781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:119061597-119062098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:119062099-119062598 Neighboring gene Sharpr-MPRA regulatory region 9283 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:119086733-119087246 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:119087442-119087942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:119087943-119088443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27836 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:119115463-119116215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19479 Neighboring gene Sharpr-MPRA regulatory region 7200 Neighboring gene sterile alpha motif domain containing 12 Neighboring gene uncharacterized LOC105375724 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:119451504-119452703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:119547949-119548448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19481 Neighboring gene SAMD12 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:119706863-119707363

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.
      Title: A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.
    2. Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates.
      Title: Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates.
    3. The exostosin glycosyltransferase 1/STAT3 axis is a driver of breast cancer aggressiveness.
      Title: The exostosin glycosyltransferase 1/STAT3 axis is a driver of breast cancer aggressiveness.
    4. Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy.
      Title: Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy.
    5. Exostosin 1 Knockdown Induces Chemoresistance in MV3 Melanoma Cells by Upregulating JNK and MEK/ERK Signaling.
      Title: Exostosin 1 Knockdown Induces Chemoresistance in MV3 Melanoma Cells by Upregulating JNK and MEK/ERK Signaling.
    6. Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.
      Title: Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.
    7. Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.
      Title: Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.
    8. Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
      Title: Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
    9. Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
      Title: Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
    10. Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.
      Title: Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.
    Submit: New GeneRIF Correction See all GeneRIFs (91)

    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

    Associated conditions

    Description Tests
    Chondrosarcoma
    MedGen: C0008479 OMIM: 215300 GeneReviews: Not available
    		not available
    Exostoses, multiple, type 1
    MedGen: CN263289 OMIM: 133700 GeneReviews: Hereditary Multiple Osteochondromas
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-06-17)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-17)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Identification of 15 loci influencing height in a Korean population.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables glucuronosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparan sulfate N-acetylglucosaminyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in antigen processing and presentation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in basement membrane organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in bone resorption IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cartilage development involved in endochondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell adhesion mediated by integrin IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondrocyte hypertrophy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondrocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondroitin sulfate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cranial skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dendrite self-avoidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dendritic cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in developmental growth involved in morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic skeletal joint development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endochondral bone growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoderm development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial tube branching involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fear response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fluid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gastrulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glandular epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glomerular basement membrane development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycosaminoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart field specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic stem cell migration to bone marrow IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heparin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hypersensitivity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in leukocyte tethering or rolling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in limb joint morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymphocyte adhesion to endothelial cell of high endothelial venule IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymphocyte migration into lymphoid organs IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mesenchymal cell differentiation involved in bone development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mesoderm development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in motor behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organismal-level water homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural crest cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in olfactory bulb development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in optic nerve development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ossification involved in bone maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in perichondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in podocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in polysaccharide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of tumor necrosis factor-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to heparin IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to light intensity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sebaceous gland development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway involved in lung development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in social behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stem cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stomach development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sulfation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sweat gland development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tight junction organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vacuole organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vasodilation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vocalization behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in wound healing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of catalytic complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    exostosin-1
    Names
    Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
    Langer-Giedion syndrome chromosome region
    N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
    exostoses (multiple) 1
    glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    heparan sulfate co-polymerase subunit EXT1
    multiple exostoses protein 1
    putative tumor suppressor protein EXT1
    NP_000118.2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_007455.2 RefSeqGene

      Range
      5001..317457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_493

    mRNA and Protein(s)

    1. NM_000127.3 → NP_000118.2  exostosin-1

      See identical proteins and their annotated locations for NP_000118.2

      Status: REVIEWED

      Source sequence(s)
      AC113188, AP003476, BC001174
      Consensus CDS
      CCDS6324.1
      UniProtKB/Swiss-Prot
      B2R7V2, Q16394, Q9BVI9
      Related
      ENSP00000367446.3, ENST00000378204.7
      Conserved Domains (2) summary
      pfam03016
      Location:110 → 396
      Exostosin; Exostosin family
      pfam09258
      Location:480 → 725
      Glyco_transf_64; Glycosyl transferase family 64 domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      117794490..118111826 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      118922893..119240285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16394.2 GenPept UniProtKB/Swiss-Prot:Q16394

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous