Format

Send to:

Choose Destination

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

Gene ID: 54585, updated on 5-Aug-2018

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; Vega:OTTHUMG00000133452
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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Expression
Broad expression in testis (RPKM 18.3), thyroid (RPKM 11.9) and 24 other tissues See more
Orthologs

Genomic context

See LZTFL1 in Genome Data Viewer
Location:
3p21.31
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (45823316..45916037, complement)
105 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 succinate dehydrogenase complex subunit D pseudogene 4 Neighboring gene C-C motif chemokine receptor 9 Neighboring gene FYVE and coiled-coil domain containing 1 Neighboring gene C-X-C motif chemokine receptor 6 Neighboring gene uncharacterized LOC105377063

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bardet-Biedl syndrome 17
MedGen: C3714980 OMIM: 615994 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Pathways from BioSystems

  • BBSome-mediated cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
    BBSome-mediated cargo-targeting to cilium, organism-specific biosystemThe BBSome is a stable complex consisting of 7 Bardet-Biedl proteins (BBS1, 2, 4, 5, 7, 8 and 9) and BBIP10 that has roles in promoting IFT and trafficking proteins to the cilum (Blacque et al, 2004;...
  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

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
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
leucine zipper transcription factor-like protein 1

NCBI Reference Sequences (RefSeq)

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_001276378.1NP_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
    ENSP00000439522.1, ENST00000536047.5
    Conserved Domains (1) summary
    pfam15294
    Location:3277
    Leu_zip; Leucine zipper
  2. NM_001276379.1NP_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_020347.3NP_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, OTTHUMP00000164656, ENST00000296135.10, OTTHUMT00000257326
    Conserved Domains (1) summary
    pfam15294
    Location:20294
    Leu_zip; Leucine zipper

RNA

  1. NR_075080.1 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, HY159348

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006713207.3XP_006713270.2  leucine zipper transcription factor-like protein 1 isoform X1

    Conserved Domains (1) summary
    pfam15294
    Location:20259
    Leu_zip; Leucine zipper
  2. XM_017006645.2XP_016862134.1  leucine zipper transcription factor-like protein 1 isoform X3

  3. 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, OTTHUMP00000210185, ENST00000440576.2, OTTHUMT00000344815
    Conserved Domains (1) summary
    pfam15294
    Location:3277
    Leu_zip; Leucine zipper
Support Center