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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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