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    TCOF1 treacle ribosome biogenesis factor 1 [ Homo sapiens (human) ]

    Gene ID: 6949, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TCOF1provided by HGNC
    Official Full Name
    treacle ribosome biogenesis factor 1provided by HGNC
    Primary source
    HGNC:HGNC:11654
    See related
    Ensembl:ENSG00000070814 MIM:606847; AllianceGenome:HGNC:11654
    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
    TCS; MFD1; TCS1; treacle
    Summary
    This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.8), appendix (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TCOF1 in Genome Data Viewer
    Location:
    5q32-q33.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150357697..150400293)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150894238..150936834)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149737260..149779856)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23400 Neighboring gene uncharacterized LOC105378226 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149755228-149755750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149756274-149756796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23413 Neighboring gene CD74 molecule Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149792263-149792832 Neighboring gene uncharacterized LOC124901106

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. Conte C, et al. BMC Med Genet, 2011 Sep 27. PMID 21951868, Free PMC Article
    2. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. So RB, et al. Gene, 2004 Mar 17. PMID 15019983
    3. Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. Shoo BA, et al. Am J Med Genet A, 2004 Apr 1. PMID 15039977
    4. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Teber OA, et al. Eur J Hum Genet, 2004 Nov. PMID 15340364
    5. A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. Masotti C, et al. Gene, 2005 Oct 10. PMID 16102917

    See all (230) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Apoptotic metabolites ameliorate bone aging phenotypes via TCOF1/FLVCR1-mediated mitochondrial homeostasis.
      Title: Apoptotic metabolites ameliorate bone aging phenotypes via TCOF1/FLVCR1-mediated mitochondrial homeostasis.
    2. [Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].
      Title: [Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].
    3. The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).
      Title: The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).
    4. A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.
      Title: A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.
    5. Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
      Title: Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
    6. [TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].
      Title: [TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].
    7. Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects.
      Title: Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects.
    8. The oncogenic role of treacle ribosome biogenesis factor 1 (TCOF1) in human tumors: a pan-cancer analysis.
      Title: The oncogenic role of treacle ribosome biogenesis factor 1 (TCOF1) in human tumors: a pan-cancer analysis.
    9. TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis.
      Title: TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis.
    10. TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC.
      Title: TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC.
    Submit: New GeneRIF Correction See all GeneRIFs (47)

    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
    Treacher Collins syndrome 1
    MedGen: CN315775 OMIM: 154500 GeneReviews: Treacher Collins Syndrome
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-28)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-04-28)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag interacts with TCOF1 as demonstrated by proximity dependent biotinylation proteomics PubMed

    Go to the HIV-1, Human Interaction Database

    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 RNA binding HDA PubMed 
    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-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables scaffold protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in neural crest cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neural crest formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleolar large rRNA transcription by RNA polymerase I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    treacle protein
    Names
    Treacher Collins syndrome protein
    Treacher Collins-Franceschetti syndrome 1
    nucleolar trafficking phosphoprotein

    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_011341.1 RefSeqGene

      Range
      5059..47655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000356.4 → NP_000347.2  treacle protein isoform b

      See identical proteins and their annotated locations for NP_000347.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks the alternate in-frame exon 7, also known as VIa, in the 5' coding region, compared to variant 4. The resulting isoform (b) lacks an internal segment but has the same N- and C-termini, compared to isoform d.
      Source sequence(s)
      BC016144, BM664489, U76366
      Consensus CDS
      CCDS4306.1
      UniProtKB/TrEMBL
      A0A3B3IS06
      Related
      ENSP00000325223.6, ENST00000323668.11
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:239 → 827
      Treacle; Treacher Collins syndrome protein Treacle

    2. NM_001008657.3 → NP_001008657.1  treacle protein isoform c

      See identical proteins and their annotated locations for NP_001008657.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate terminal exon and lacks 10 3' exons, compared to variant 4. The resulting isoform (c) has a significantly shorter and distinct C-terminus, compared to isoform d.
      Source sequence(s)
      AC011372, AI939467, AW135418, BC011764
      Consensus CDS
      CCDS47307.1
      UniProtKB/TrEMBL
      H0Y8Y7
      Related
      ENSP00000377811.3, ENST00000394269.7
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:316 → 904
      Treacle; Treacher Collins syndrome protein Treacle

    3. NM_001135243.2 → NP_001128715.1  treacle protein isoform d

      See identical proteins and their annotated locations for NP_001128715.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (d).
      Source sequence(s)
      AC011372, AY460334, BC016144, BM664489, U76366
      Consensus CDS
      CCDS54936.1
      UniProtKB/Swiss-Prot
      A0JLU0, B4E111, Q13428, Q6SC72, Q7Z5W9, Q96A52, Q99408, Q99860
      UniProtKB/TrEMBL
      A0A3B3IS06
      Related
      ENSP00000367028.4, ENST00000377797.7
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:316 → 904
      Treacle; Treacher Collins syndrome protein Treacle

    4. NM_001135244.2 → NP_001128716.1  treacle protein isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks the alternate in-frame exon 21, also known as XIX, and uses an alternate in-frame splice site in the central coding region, compared to variant 4. The resulting isoform (e) lacks an internal segment, contains a one residue insertion, and has the same N- and C-termini, compared to isoform d.
      Source sequence(s)
      AC011372, AK303611, BC016144, BM664489, U76366
      Consensus CDS
      CCDS47305.1
      UniProtKB/TrEMBL
      A0A3B3IS06
      Related
      ENSP00000406888.2, ENST00000439160.6
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:316 → 904
      Treacle; Treacher Collins syndrome protein Treacle

    5. NM_001135245.2 → NP_001128717.1  treacle protein isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks the alternate in-frame exon 7, also known as VIa, in the 5' coding region and uses an alternate in-frame splice site in the central coding region, compared to variant 4. The resulting isoform (f) lacks an internal segment, contains a one residue insertion, and has the same N- and C-termini, compared to isoform d.
      Source sequence(s)
      AC011372, AK299167, BC027252, BM664489, U76366
      Consensus CDS
      CCDS47306.1
      UniProtKB/TrEMBL
      A0A3B3IS06
      Related
      ENSP00000409944.2, ENST00000445265.6
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:239 → 827
      Treacle; Treacher Collins syndrome protein Treacle

    6. NM_001195141.2 → NP_001182070.1  treacle protein isoform g

      See identical proteins and their annotated locations for NP_001182070.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. This results in a shorter protein (isoform g), compared to isoform d.
      Source sequence(s)
      AC011372, BC016144, BM664489, U76366
      Consensus CDS
      CCDS43388.1
      UniProtKB/TrEMBL
      A0A3B3IS06
      Related
      ENSP00000390717.3, ENST00000427724.7
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:316 → 904
      Treacle; Treacher Collins syndrome protein Treacle

    7. NM_001371623.1 → NP_001358552.1  treacle protein isoform h

      Status: REVIEWED

      Source sequence(s)
      AC011372
      Consensus CDS
      CCDS93805.1
      UniProtKB/TrEMBL
      A0A3B3IS06
      Related
      ENSP00000493815.1, ENST00000643257.2
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:316 → 904
      Treacle; Treacher Collins syndrome protein Treacle

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      150357697..150400293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268502.5 → XP_005268559.1  treacle protein isoform X1

      UniProtKB/TrEMBL
      A0A3B3IS06
      Related
      ENSP00000501343.1, ENST00000674413.1
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:316 → 904
      Treacle; Treacher Collins syndrome protein Treacle

    2. XM_005268504.5 → XP_005268561.1  treacle protein isoform X3

      UniProtKB/TrEMBL
      A0A3B3IS06
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:316 → 904
      Treacle; Treacher Collins syndrome protein Treacle

    3. XM_005268506.5 → XP_005268563.1  treacle protein isoform X5

      UniProtKB/TrEMBL
      A0A3B3IS06, E7ETY2
      Related
      ENSP00000427484.1, ENST00000513346.5
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:316 → 904
      Treacle; Treacher Collins syndrome protein Treacle

    4. XM_017009792.3 → XP_016865281.1  treacle protein isoform X7

      UniProtKB/TrEMBL
      A0A3B3IS06

    5. XM_005268503.5 → XP_005268560.1  treacle protein isoform X2

      UniProtKB/TrEMBL
      A0A3B3IS06
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:316 → 904
      Treacle; Treacher Collins syndrome protein Treacle

    6. XM_047417645.1 → XP_047273601.1  treacle protein isoform X4

      UniProtKB/TrEMBL
      A0A3B3IS06

    7. XM_047417646.1 → XP_047273602.1  treacle protein isoform X6

      UniProtKB/TrEMBL
      A0A3B3IS06

    8. XM_047417647.1 → XP_047273603.1  treacle protein isoform X8

      UniProtKB/TrEMBL
      A0A3B3IS06

    9. XM_011537678.4 → XP_011535980.1  treacle protein isoform X9

      UniProtKB/TrEMBL
      A0A3B3IS06
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:388 → 901
      Treacle; Treacher Collins syndrome protein Treacle

    10. XM_047417649.1 → XP_047273605.1  treacle protein isoform X11

      UniProtKB/TrEMBL
      A0A3B3IS06

    11. XM_047417655.1 → XP_047273611.1  treacle protein isoform X19

      UniProtKB/TrEMBL
      A0A3B3IS06

    12. XM_047417656.1 → XP_047273612.1  treacle protein isoform X20

      UniProtKB/TrEMBL
      A0A3B3IS06

    13. XM_047417648.1 → XP_047273604.1  treacle protein isoform X10

      UniProtKB/TrEMBL
      A0A3B3IS06

    14. XM_047417650.1 → XP_047273606.1  treacle protein isoform X12

      UniProtKB/TrEMBL
      A0A3B3IS06

    15. XM_017009793.3 → XP_016865282.1  treacle protein isoform X17

      UniProtKB/TrEMBL
      A0A3B3IS06

    16. XM_047417654.1 → XP_047273610.1  treacle protein isoform X18

      UniProtKB/TrEMBL
      A0A3B3IS06

    17. XM_017009794.3 → XP_016865283.1  treacle protein isoform X25

      UniProtKB/TrEMBL
      A0A3B3IS06

    18. XM_047417661.1 → XP_047273617.1  treacle protein isoform X26

      UniProtKB/TrEMBL
      A0A3B3IS06

    19. XM_005268507.5 → XP_005268564.1  treacle protein isoform X13

      UniProtKB/TrEMBL
      A0A3B3IS06
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:239 → 827
      Treacle; Treacher Collins syndrome protein Treacle

    20. XM_047417652.1 → XP_047273608.1  treacle protein isoform X15

      UniProtKB/TrEMBL
      A0A3B3IS06

    21. XM_047417657.1 → XP_047273613.1  treacle protein isoform X21

      UniProtKB/TrEMBL
      A0A3B3IS06

    22. XM_047417659.1 → XP_047273615.1  treacle protein isoform X23

      UniProtKB/TrEMBL
      A0A3B3IS06

    23. XM_047417651.1 → XP_047273607.1  treacle protein isoform X14

      UniProtKB/TrEMBL
      A0A3B3IS06

    24. XM_047417653.1 → XP_047273609.1  treacle protein isoform X16

      UniProtKB/TrEMBL
      A0A3B3IS06

    25. XM_047417658.1 → XP_047273614.1  treacle protein isoform X22

      UniProtKB/TrEMBL
      A0A3B3IS06

    26. XM_047417660.1 → XP_047273616.1  treacle protein isoform X24

      UniProtKB/TrEMBL
      A0A3B3IS06

    27. XM_047417664.1 → XP_047273620.1  treacle protein isoform X29

      UniProtKB/TrEMBL
      A0A3B3IS06
      Related
      ENSP00000497075.1, ENST00000650162.1

    28. XM_047417665.1 → XP_047273621.1  treacle protein isoform X30

      UniProtKB/TrEMBL
      A0A3B3IS06

    29. XM_047417662.1 → XP_047273618.1  treacle protein isoform X27

      UniProtKB/TrEMBL
      A0A3B3IS06

    30. XM_047417663.1 → XP_047273619.1  treacle protein isoform X28

      UniProtKB/TrEMBL
      A0A3B3IS06

    31. XM_047417669.1 → XP_047273625.1  treacle protein isoform X34

      UniProtKB/TrEMBL
      A0A3B3IS06

    32. XM_047417668.1 → XP_047273624.1  treacle protein isoform X33

      UniProtKB/TrEMBL
      A0A3B3IS06

    33. XM_047417666.1 → XP_047273622.1  treacle protein isoform X31

      UniProtKB/TrEMBL
      A0A3B3IS06

    34. XM_047417667.1 → XP_047273623.1  treacle protein isoform X32

      UniProtKB/TrEMBL
      A0A3B3IS06

    35. XM_047417670.1 → XP_047273626.1  treacle protein isoform X35

      UniProtKB/TrEMBL
      A0A3B3IS06

    36. XM_047417671.1 → XP_047273627.1  treacle protein isoform X36

      UniProtKB/TrEMBL
      A0A3B3IS06

    37. XM_047417672.1 → XP_047273628.1  treacle protein isoform X37

      UniProtKB/TrEMBL
      H0Y8Y7

    38. XM_047417673.1 → XP_047273629.1  treacle protein isoform X38

      UniProtKB/TrEMBL
      H0Y8Y7

    39. XM_047417674.1 → XP_047273630.1  treacle protein isoform X39

      UniProtKB/TrEMBL
      H0Y8Y7

    40. XM_047417675.1 → XP_047273631.1  treacle protein isoform X40

      UniProtKB/TrEMBL
      H0Y8Y7

    41. XM_047417676.1 → XP_047273632.1  treacle protein isoform X41

      UniProtKB/TrEMBL
      H0Y8Y7

    42. XM_017009795.3 → XP_016865284.1  treacle protein isoform X42

      UniProtKB/TrEMBL
      H0Y8Y7

    43. XM_047417677.1 → XP_047273633.1  treacle protein isoform X43

      UniProtKB/TrEMBL
      H0Y8Y7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      150894238..150936834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353340.1 → XP_054209315.1  treacle protein isoform X1

      UniProtKB/TrEMBL
      A0A3B3IS06

    2. XM_054353342.1 → XP_054209317.1  treacle protein isoform X3

      UniProtKB/TrEMBL
      A0A3B3IS06

    3. XM_054353344.1 → XP_054209319.1  treacle protein isoform X5

      UniProtKB/TrEMBL
      A0A3B3IS06

    4. XM_054353346.1 → XP_054209321.1  treacle protein isoform X7

      UniProtKB/TrEMBL
      A0A3B3IS06

    5. XM_054353341.1 → XP_054209316.1  treacle protein isoform X2

      UniProtKB/TrEMBL
      A0A3B3IS06

    6. XM_054353343.1 → XP_054209318.1  treacle protein isoform X4

      UniProtKB/TrEMBL
      A0A3B3IS06

    7. XM_054353345.1 → XP_054209320.1  treacle protein isoform X6

      UniProtKB/TrEMBL
      A0A3B3IS06

    8. XM_054353347.1 → XP_054209322.1  treacle protein isoform X8

      UniProtKB/TrEMBL
      A0A3B3IS06

    9. XM_054353348.1 → XP_054209323.1  treacle protein isoform X9

      UniProtKB/TrEMBL
      A0A3B3IS06

    10. XM_054353350.1 → XP_054209325.1  treacle protein isoform X11

      UniProtKB/TrEMBL
      A0A3B3IS06

    11. XM_054353358.1 → XP_054209333.1  treacle protein isoform X19

      UniProtKB/TrEMBL
      A0A3B3IS06

    12. XM_054353359.1 → XP_054209334.1  treacle protein isoform X20

      UniProtKB/TrEMBL
      A0A3B3IS06

    13. XM_054353349.1 → XP_054209324.1  treacle protein isoform X10

      UniProtKB/TrEMBL
      A0A3B3IS06

    14. XM_054353351.1 → XP_054209326.1  treacle protein isoform X12

      UniProtKB/TrEMBL
      A0A3B3IS06

    15. XM_054353356.1 → XP_054209331.1  treacle protein isoform X17

      UniProtKB/TrEMBL
      A0A3B3IS06

    16. XM_054353357.1 → XP_054209332.1  treacle protein isoform X18

      UniProtKB/TrEMBL
      A0A3B3IS06

    17. XM_054353364.1 → XP_054209339.1  treacle protein isoform X25

      UniProtKB/TrEMBL
      A0A3B3IS06

    18. XM_054353365.1 → XP_054209340.1  treacle protein isoform X26

      UniProtKB/TrEMBL
      A0A3B3IS06

    19. XM_054353352.1 → XP_054209327.1  treacle protein isoform X13

      UniProtKB/TrEMBL
      A0A3B3IS06

    20. XM_054353354.1 → XP_054209329.1  treacle protein isoform X15

      UniProtKB/TrEMBL
      A0A3B3IS06

    21. XM_054353360.1 → XP_054209335.1  treacle protein isoform X21

      UniProtKB/TrEMBL
      A0A3B3IS06

    22. XM_054353362.1 → XP_054209337.1  treacle protein isoform X23

      UniProtKB/TrEMBL
      A0A3B3IS06

    23. XM_054353353.1 → XP_054209328.1  treacle protein isoform X14

      UniProtKB/TrEMBL
      A0A3B3IS06

    24. XM_054353355.1 → XP_054209330.1  treacle protein isoform X16

      UniProtKB/TrEMBL
      A0A3B3IS06

    25. XM_054353361.1 → XP_054209336.1  treacle protein isoform X22

      UniProtKB/TrEMBL
      A0A3B3IS06

    26. XM_054353363.1 → XP_054209338.1  treacle protein isoform X24

      UniProtKB/TrEMBL
      A0A3B3IS06

    27. XM_054353368.1 → XP_054209343.1  treacle protein isoform X29

      UniProtKB/TrEMBL
      A0A3B3IS06

    28. XM_054353369.1 → XP_054209344.1  treacle protein isoform X30

      UniProtKB/TrEMBL
      A0A3B3IS06

    29. XM_054353366.1 → XP_054209341.1  treacle protein isoform X27

      UniProtKB/TrEMBL
      A0A3B3IS06

    30. XM_054353367.1 → XP_054209342.1  treacle protein isoform X28

      UniProtKB/TrEMBL
      A0A3B3IS06

    31. XM_054353373.1 → XP_054209348.1  treacle protein isoform X34

      UniProtKB/TrEMBL
      A0A3B3IS06

    32. XM_054353372.1 → XP_054209347.1  treacle protein isoform X33

      UniProtKB/TrEMBL
      A0A3B3IS06

    33. XM_054353370.1 → XP_054209345.1  treacle protein isoform X31

      UniProtKB/TrEMBL
      A0A3B3IS06

    34. XM_054353371.1 → XP_054209346.1  treacle protein isoform X32

      UniProtKB/TrEMBL
      A0A3B3IS06

    35. XM_054353374.1 → XP_054209349.1  treacle protein isoform X35

      UniProtKB/TrEMBL
      A0A3B3IS06

    36. XM_054353375.1 → XP_054209350.1  treacle protein isoform X36

      UniProtKB/TrEMBL
      A0A3B3IS06

    37. XM_054353376.1 → XP_054209351.1  treacle protein isoform X37

      UniProtKB/TrEMBL
      H0Y8Y7

    38. XM_054353377.1 → XP_054209352.1  treacle protein isoform X38

      UniProtKB/TrEMBL
      H0Y8Y7

    39. XM_054353378.1 → XP_054209353.1  treacle protein isoform X39

      UniProtKB/TrEMBL
      H0Y8Y7

    40. XM_054353379.1 → XP_054209354.1  treacle protein isoform X40

      UniProtKB/TrEMBL
      H0Y8Y7

    41. XM_054353380.1 → XP_054209355.1  treacle protein isoform X41

      UniProtKB/TrEMBL
      H0Y8Y7

    42. XM_054353381.1 → XP_054209356.1  treacle protein isoform X42

      UniProtKB/TrEMBL
      H0Y8Y7

    43. XM_054353382.1 → XP_054209357.1  treacle protein isoform X43

      UniProtKB/TrEMBL
      H0Y8Y7

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008656.2: Suppressed sequence

      Description
      NM_001008656.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13428.3 GenPept UniProtKB/Swiss-Prot:Q13428

    Gene LinkOut

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