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Q9NQ48 (LZTL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Leucine zipper transcription factor-like protein 1
Gene names
Name:LZTFL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length299 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function. Ref.7 Ref.9 Ref.10

Subunit structure

Self-associates. Interacts with BBS9; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking. Ref.9

Subcellular location

Cytoplasm Ref.7 Ref.9.

Tissue specificity

Expressed in prostate, ovary, stomach, pancreas, esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at protein level). Down-regulated in multiple primary tumors (at protein level). Detected in testis, heart, skeletal muscle, thymus, spleen, small intestine, and peripheral blood leukocytes. Ref.1 Ref.7

Developmental stage

Expressed in brain, lung, liver, and kidney. Ref.1

Involvement in disease

Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Note: The disease may be caused by mutations affecting the gene represented in this entry. BBS patients carrying LZTFL1 mutations manifest mesoaxial polydactyly, a clinical feature very uncommon for Bardet-Biedl syndrome (Ref.10 and Ref.11). Some patients manifest situs inversus (Ref.10). Ref.9 Ref.10 Ref.11

Sequence similarities

Belongs to the LZTFL1 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

itself3EBI-2824799,EBI-2824799
BBS9Q3SYG46EBI-2824799,EBI-2826852

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NQ48-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9NQ48-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.
Isoform 3 (identifier: Q9NQ48-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: MAELGLNEHH...SCFQDLKESR → MRNQDPGKMG...SWAKFQEKAL
     260-299: ELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED → I

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 299299Leucine zipper transcription factor-like protein 1
PRO_0000318757

Regions

Region145 – 299155Interaction with BSS9
Coiled coil96 – 296201 Potential

Natural variations

Alternative sequence1 – 4343MAELG…LKESR → MRNQDPGKMGRQRKSIKLYP THPLVTFPRSWAKFQEKAL in isoform 3.
VSP_053428
Alternative sequence1 – 1717Missing in isoform 2.
VSP_053429
Alternative sequence260 – 29940ELEKK…YEPED → I in isoform 3.
VSP_053430
Natural variant871L → P in BBS. Ref.11
VAR_070104
Natural variant1521K → E. Ref.6
Corresponds to variant rs17855512 [ dbSNP | Ensembl ].
VAR_038877
Natural variant2461D → N. Ref.1
Corresponds to variant rs1129183 [ dbSNP | Ensembl ].
VAR_038878
Natural variant2511Q → R. Ref.6
Corresponds to variant rs17852322 [ dbSNP | Ensembl ].
VAR_038879

Experimental info

Mutagenesis24 – 252KR → AS: Increases BBS4, BBS8 and BBS9 ciliary localization. Ref.9
Sequence conflict1081R → Q in AAH25988. Ref.6
Sequence conflict2241K → R in BAG64469. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: DCCD59AB98ED2C8A

FASTA29934,592
        10         20         30         40         50         60 
MAELGLNEHH QNEVINYMRF ARSKRGLRLK TVDSCFQDLK ESRLVEDTFT IDEVSEVLNG 

        70         80         90        100        110        120 
LQAVVHSEVE SELINTAYTN VLLLRQLFAQ AEKWYLKLQT DISELENREL LEQVAEFEKA 

       130        140        150        160        170        180 
EITSSNKKPI LDVTKPKLAP LNEGGTAELL NKEILRLQEE NEKLKSRLKT IEIQATNALD 

       190        200        210        220        230        240 
EKSKLEKALQ DLQLDQGNQK DFIKAQDLSN LENTVAALKS EFQKTLNDKT ENQKSLEENL 

       250        260        270        280        290 
ATAKHDLLRV QEQLHMAEKE LEKKFQQTAA YRNMKEILTK KNDQIKDLRK RLAQYEPED 

« Hide

Isoform 2 [UniParc].

Checksum: 93484845102E01AB
Show »

FASTA28232,599
Isoform 3 [UniParc].

Checksum: 6A4C0DBFF9E07403
Show »

FASTA25629,332

References

« Hide 'large scale' references
[1]"The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3."
Kiss H., Kedra D., Kiss C., Kost-Alimova M., Yang Y., Klein G., Imreh S., Dumanski J.P.
Genomics 73:10-19(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT ASN-246.
Tissue: Testis.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Endometrial adenocarcinoma.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
[4]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLU-152 AND ARG-251.
Tissue: Testis.
[7]"Tumor-suppressive functions of leucine zipper transcription factor-like 1."
Wei Q., Zhou W., Wang W., Gao B., Wang L., Cao J., Liu Z.P.
Cancer Res. 70:2942-2950(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION AS TUMOR SUPPRESSOR, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SELF-ASSOCIATION, INTERACTION WITH BBS9, ASSOCIATION WITH THE BBSOME COMPLEX, SUBCELLULAR LOCATION, MUTAGENESIS OF 24-LYS-ARG-25.
[10]"Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly."
Marion V., Stutzmann F., Gerard M., De Melo C., Schaefer E., Claussmann A., Helle S., Delague V., Souied E., Barrey C., Verloes A., Stoetzel C., Dollfus H.
J. Med. Genet. 49:317-321(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN SONIC HEDGEHOG PATHWAY, INVOLVEMENT IN BBS.
[11]"Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations."
Schaefer E., Lauer J., Durand M., Pelletier V., Obringer C., Claussmann A., Braun J.J., Redin C., Mathis C., Muller J., Schmidt-Mutter C., Flori E., Marion V., Stoetzel C., Dollfus H.
Clin. Genet. 85:476-481(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BBS PRO-87.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ289880 Genomic DNA. Translation: CAB96873.1.
AJ297351 mRNA. Translation: CAB95836.1.
BX640604 mRNA. Translation: CAE45710.1.
AK093705 mRNA. Translation: BAG52751.1.
AK303416 mRNA. Translation: BAG64469.1.
AC098476 Genomic DNA. No translation available.
AC099782 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64749.1.
CH471055 Genomic DNA. Translation: EAW64750.1.
BC025988 mRNA. Translation: AAH25988.1.
BC042483 mRNA. Translation: AAH42483.1.
CCDSCCDS2731.1. [Q9NQ48-1]
CCDS63608.1. [Q9NQ48-2]
CCDS63609.1. [Q9NQ48-3]
RefSeqNP_001263307.1. NM_001276378.1. [Q9NQ48-2]
NP_001263308.1. NM_001276379.1. [Q9NQ48-3]
NP_065080.1. NM_020347.3. [Q9NQ48-1]
UniGeneHs.30824.

3D structure databases

ProteinModelPortalQ9NQ48.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120062. 8 interactions.
IntActQ9NQ48. 5 interactions.
STRING9606.ENSP00000296135.

PTM databases

PhosphoSiteQ9NQ48.

Polymorphism databases

DMDM74734310.

2D gel databases

REPRODUCTION-2DPAGEIPI00478250.

Proteomic databases

MaxQBQ9NQ48.
PaxDbQ9NQ48.
PRIDEQ9NQ48.

Protocols and materials databases

DNASU54585.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296135; ENSP00000296135; ENSG00000163818. [Q9NQ48-1]
ENST00000536047; ENSP00000439522; ENSG00000163818. [Q9NQ48-2]
ENST00000539217; ENSP00000441784; ENSG00000163818. [Q9NQ48-3]
GeneID54585.
KEGGhsa:54585.
UCSCuc003cox.2. human. [Q9NQ48-1]

Organism-specific databases

CTD54585.
GeneCardsGC03M045840.
H-InvDBHIX0003243.
HGNCHGNC:6741. LZTFL1.
HPAHPA043466.
HPA048447.
MIM209900. phenotype.
606568. gene.
neXtProtNX_Q9NQ48.
Orphanet110. Bardet-Biedl syndrome.
PharmGKBPA30505.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG68368.
HOGENOMHOG000067838.
HOVERGENHBG054284.
InParanoidQ9NQ48.
OMAGFNEHHQ.
OrthoDBEOG7ZWD2H.
PhylomeDBQ9NQ48.
TreeFamTF329023.

Gene expression databases

ArrayExpressQ9NQ48.
BgeeQ9NQ48.
CleanExHS_LZTFL1.
GenevestigatorQ9NQ48.

Family and domain databases

InterProIPR026157. LZTFL1.
[Graphical view]
PANTHERPTHR21635. PTHR21635. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi54585.
NextBio35469723.
PROQ9NQ48.
SOURCESearch...

Entry information

Entry nameLZTL1_HUMAN
AccessionPrimary (citable) accession number: Q9NQ48
Secondary accession number(s): B3KSI9 expand/collapse secondary AC list , B4E0K7, Q8TC61, Q9NQ56
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 93 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM