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    LMNTD1 lamin tail domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 160492, updated on 5-Mar-2024

    Summary

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    Official Symbol
    LMNTD1provided by HGNC
    Official Full Name
    lamin tail domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26683
    See related
    Ensembl:ENSG00000152936 MIM:617254; AllianceGenome:HGNC:26683
    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
    IFLTD1; PAS1C1; LMNARS1
    Summary
    Predicted to act upstream of or within cell population proliferation. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 1.7) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12p12.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (25476082..25648578, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (25349099..25521179, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (25629016..25801512, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene TUBB4B pseudogene 1 Neighboring gene uncharacterized LOC124902900 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:25863726-25864925 Neighboring gene RN7SK pseudogene 262 Neighboring gene thymine-DNA glycosylase pseudogene 1

    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. Pas1c1 is a candidate for the mouse pulmonary adenoma susceptibility 1 locus. Wang M, et al. Oncogene, 2005 Mar 10. PMID 15688036
    2. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Hill SJ, et al. Genes Dev, 2014 Sep 1. PMID 25184681, Free PMC Article
    3. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Markers

    Homology

    Clone Names

    • FLJ36004

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    lamin tail domain-containing protein 1
    Names
    intermediate filament tail domain containing 1
    intermediate filament tail domain-containing protein 1

    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_001145727.3 → NP_001139199.1  lamin tail domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, and uses an alternate exon in the 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC022367, AK296816, BM976998, BP359528, DW009862
      Consensus CDS
      CCDS44847.1
      UniProtKB/Swiss-Prot
      Q8N9Z9
      Related
      ENSP00000407043.1, ENST00000445693.5
      Conserved Domains (1) summary
      pfam00932
      Location:79 → 188
      LTD; Lamin Tail Domain

    2. NM_001145728.2 → NP_001139200.1  lamin tail domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001139200.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK093323, AK302292, DB039294, DW009862
      Consensus CDS
      CCDS44849.1
      UniProtKB/Swiss-Prot
      Q8N9Z9
      Related
      ENSP00000407353.2, ENST00000458174.7
      Conserved Domains (1) summary
      pfam00932
      Location:163 → 272
      LTD; Lamin Tail Domain

    3. NM_001145729.1 → NP_001139201.1  lamin tail domain-containing protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001139201.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the central coding region, and uses an alternate exon in the 3' UTR, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AK310411, DB039294, DB054364, DW009862
      Consensus CDS
      CCDS44848.1
      UniProtKB/Swiss-Prot
      Q8N9Z9
      Related
      ENSP00000393150.2, ENST00000413632.6
      Conserved Domains (1) summary
      cl20210
      Location:163 → 226
      LTD; Lamin Tail Domain

    4. NM_001256266.1 → NP_001243195.1  lamin tail domain-containing protein 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (5) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK093323, AK302292, BC037957, DB039294, DW009862
      Consensus CDS
      CCDS58218.1
      UniProtKB/Swiss-Prot
      Q8N9Z9
      Related
      ENSP00000443132.1, ENST00000539744.5
      Conserved Domains (1) summary
      pfam00932
      Location:44 → 154
      LTD; Lamin Tail Domain

    5. NM_001352232.2 → NP_001339161.1  lamin tail domain-containing protein 1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 7 and 8, encodes isoform 6.
      Source sequence(s)
      AC022367
      Conserved Domains (1) summary
      pfam00932
      Location:118 → 226
      LTD; Lamin Tail Domain

    6. NM_001352233.2 → NP_001339162.1  lamin tail domain-containing protein 1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 6 and 8, encodes isoform 6.
      Source sequence(s)
      AC022367
      Conserved Domains (1) summary
      pfam00932
      Location:118 → 226
      LTD; Lamin Tail Domain

    7. NM_001352234.2 → NP_001339163.1  lamin tail domain-containing protein 1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 6 and 7, encodes isoform 6.
      Source sequence(s)
      AC022367
      Conserved Domains (1) summary
      pfam00932
      Location:118 → 226
      LTD; Lamin Tail Domain

    8. NM_152590.3 → NP_689803.2  lamin tail domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_689803.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' region and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK093323, AK302292, DB039294, DW009862
      Consensus CDS
      CCDS8704.1
      UniProtKB/Swiss-Prot
      B4DL27, B4DY70, Q8IY38, Q8N9Z9
      Related
      ENSP00000282881.6, ENST00000282881.10
      Conserved Domains (1) summary
      pfam00932
      Location:142 → 251
      LTD; Lamin Tail Domain

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      25476082..25648578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520575.2 → XP_011518877.1  lamin tail domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011518877.1

      UniProtKB/Swiss-Prot
      Q8N9Z9
      Conserved Domains (1) summary
      pfam00932
      Location:163 → 272
      LTD; Lamin Tail Domain

    2. XM_011520576.3 → XP_011518878.1  lamin tail domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011518878.1

      UniProtKB/Swiss-Prot
      Q8N9Z9
      Conserved Domains (1) summary
      pfam00932
      Location:163 → 272
      LTD; Lamin Tail Domain

    3. XM_047428410.1 → XP_047284366.1  lamin tail domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      pfam00932
      Location:163 → 272
      LTD; Lamin Tail Domain

    4. XM_047428413.1 → XP_047284369.1  lamin tail domain-containing protein 1 isoform X3

    5. XM_017018891.2 → XP_016874380.1  lamin tail domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q8N9Z9
      Conserved Domains (1) summary
      pfam00932
      Location:163 → 272
      LTD; Lamin Tail Domain

    6. XM_011520578.3 → XP_011518880.1  lamin tail domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011518880.1

      UniProtKB/Swiss-Prot
      Q8N9Z9
      Conserved Domains (1) summary
      pfam00932
      Location:163 → 272
      LTD; Lamin Tail Domain

    7. XM_011520577.3 → XP_011518879.1  lamin tail domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011518879.1

      UniProtKB/Swiss-Prot
      Q8N9Z9
      Conserved Domains (1) summary
      pfam00932
      Location:163 → 272
      LTD; Lamin Tail Domain

    8. XM_047428411.1 → XP_047284367.1  lamin tail domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      pfam00932
      Location:163 → 272
      LTD; Lamin Tail Domain

    9. XM_011520583.2 → XP_011518885.1  lamin tail domain-containing protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011518885.1

      Conserved Domains (1) summary
      pfam00932
      Location:118 → 226
      LTD; Lamin Tail Domain

    10. XM_047428409.1 → XP_047284365.1  lamin tail domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      pfam00932
      Location:163 → 272
      LTD; Lamin Tail Domain

    11. XM_011520582.2 → XP_011518884.1  lamin tail domain-containing protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011518884.1

      Conserved Domains (1) summary
      pfam00932
      Location:118 → 226
      LTD; Lamin Tail Domain

    12. XM_011520584.3 → XP_011518886.1  lamin tail domain-containing protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011518886.1

      Conserved Domains (1) summary
      pfam00932
      Location:118 → 226
      LTD; Lamin Tail Domain

    13. XM_011520588.2 → XP_011518890.1  lamin tail domain-containing protein 1 isoform X6

      Conserved Domains (1) summary
      pfam00932
      Location:3 → 81
      LTD; Lamin Tail Domain

    14. XM_011520587.3 → XP_011518889.1  lamin tail domain-containing protein 1 isoform X5

      Conserved Domains (1) summary
      pfam00932
      Location:21 → 129
      LTD; Lamin Tail Domain

    15. XM_011520579.3 → XP_011518881.1  lamin tail domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      pfam00932
      Location:162 → 272
      LTD; Lamin Tail Domain

    16. XM_017018894.2 → XP_016874383.1  lamin tail domain-containing protein 1 isoform X4

    17. XM_017018895.2 → XP_016874384.1  lamin tail domain-containing protein 1 isoform X7

    RNA

    1. XR_931277.2 RNA Sequence

    2. XR_931276.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      25349099..25521179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371247.1 → XP_054227222.1  lamin tail domain-containing protein 1 isoform X1

    2. XM_054371246.1 → XP_054227221.1  lamin tail domain-containing protein 1 isoform X1

    3. XM_054371245.1 → XP_054227220.1  lamin tail domain-containing protein 1 isoform X1

    4. XM_054371257.1 → XP_054227232.1  lamin tail domain-containing protein 1 isoform X3

    5. XM_054371250.1 → XP_054227225.1  lamin tail domain-containing protein 1 isoform X1

    6. XM_054371249.1 → XP_054227224.1  lamin tail domain-containing protein 1 isoform X1

    7. XM_054371248.1 → XP_054227223.1  lamin tail domain-containing protein 1 isoform X1

    8. XM_054371252.1 → XP_054227227.1  lamin tail domain-containing protein 1 isoform X3

    9. XM_054371244.1 → XP_054227219.1  lamin tail domain-containing protein 1 isoform X1

    10. XM_054371253.1 → XP_054227228.1  lamin tail domain-containing protein 1 isoform X3

    11. XM_054371254.1 → XP_054227229.1  lamin tail domain-containing protein 1 isoform X3

    12. XM_054371258.1 → XP_054227233.1  lamin tail domain-containing protein 1 isoform X6

    13. XM_054371256.1 → XP_054227231.1  lamin tail domain-containing protein 1 isoform X5

    14. XM_054371251.1 → XP_054227226.1  lamin tail domain-containing protein 1 isoform X2

    15. XM_054371255.1 → XP_054227230.1  lamin tail domain-containing protein 1 isoform X4

    16. XM_054371259.1 → XP_054227234.1  lamin tail domain-containing protein 1 isoform X7

    RNA

    1. XR_008488547.1 RNA Sequence

    2. XR_008488546.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9Z9.2 GenPept UniProtKB/Swiss-Prot:Q8N9Z9

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