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    LZTFL1 leucine zipper transcription factor like 1 [ Homo sapiens (human) ]

    Gene ID: 54585, updated on 8-Jul-2021

    Summary

    Official Symbol
    LZTFL1provided by HGNC
    Official Full Name
    leucine zipper transcription factor like 1provided by HGNC
    Primary source
    HGNC:HGNC:6741
    See related
    Ensembl:ENSG00000163818 MIM:606568
    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
    BBS17
    Summary
    This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]
    Expression
    Broad expression in testis (RPKM 18.3), thyroid (RPKM 11.9) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LZTFL1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (45823316..45916037, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (45864808..45957216, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SAC1 like phosphatidylinositide phosphatase Neighboring gene RNA, 7SL, cytoplasmic 145, pseudogene Neighboring gene solute carrier family 6 member 20 Neighboring gene uncharacterized LOC107986082 Neighboring gene uncharacterized LOC107986083 Neighboring gene CCR9 promoter region Neighboring gene succinate dehydrogenase complex subunit D pseudogene 4 Neighboring gene C-C motif chemokine receptor 9 Neighboring gene FYVE and coiled-coil domain autophagy adaptor 1 Neighboring gene C-X-C motif chemokine receptor 6 Neighboring gene Sharpr-MPRA regulatory region 2695

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bardet-Biedl syndrome 17
    MedGen: C3714980 OMIM: 615994 GeneReviews: Not available
    Compare labs
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ36386

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    leucine zipper transcription factor-like protein 1

    NCBI Reference Sequences (RefSeq)

    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_033917.1 RefSeqGene

      Range
      5001..97409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001276378.2NP_001263307.1  leucine zipper transcription factor-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001263307.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream in-frame AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC098476, AK093705, BX112707
      Consensus CDS
      CCDS63608.1
      UniProtKB/Swiss-Prot
      Q9NQ48
      Related
      ENSP00000506925.1, ENST00000684620.1
      Conserved Domains (1) summary
      pfam15294
      Location:3277
      Leu_zip; Leucine zipper
    2. NM_001276379.2NP_001263308.1  leucine zipper transcription factor-like protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR, has multiple coding region differences, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (3) is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AC098476, AK303416, BX112707, CN429018, DC410047
      Consensus CDS
      CCDS63609.1
      UniProtKB/Swiss-Prot
      Q9NQ48
      Related
      ENSP00000441784.1, ENST00000539217.5
      Conserved Domains (1) summary
      pfam15294
      Location:40255
      Leu_zip; Leucine zipper
    3. NM_001386451.1NP_001373380.1  leucine zipper transcription factor-like protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC098476, AC099782
      Conserved Domains (1) summary
      pfam15294
      Location:3277
      Leu_zip; Leucine zipper
    4. NM_001386452.1NP_001373381.1  leucine zipper transcription factor-like protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC098476, AC099782
      Conserved Domains (1) summary
      pfam15294
      Location:20259
      Leu_zip; Leucine zipper
    5. NM_020347.4NP_065080.1  leucine zipper transcription factor-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_065080.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC098476, AJ297351, BX112707, HY159348
      Consensus CDS
      CCDS2731.1
      UniProtKB/Swiss-Prot
      Q9NQ48
      Related
      ENSP00000296135.6, ENST00000296135.11
      Conserved Domains (1) summary
      pfam15294
      Location:20294
      Leu_zip; Leucine zipper

    RNA

    1. NR_075080.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC098476, AJ297351, BX112707, DA408809
    2. NR_170121.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC099782

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      45823316..45916037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006645.2XP_016862134.1  leucine zipper transcription factor-like protein 1 isoform X3

    2. XM_011533838.2XP_011532140.1  leucine zipper transcription factor-like protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011532140.1

      UniProtKB/Swiss-Prot
      Q9NQ48
      Related
      ENSP00000416083.2, ENST00000440576.2
      Conserved Domains (1) summary
      pfam15294
      Location:3277
      Leu_zip; Leucine zipper
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