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Q99732

- LITAF_HUMAN

UniProt

Q99732 - LITAF_HUMAN

Protein

Lipopolysaccharide-induced tumor necrosis factor-alpha factor

Gene

LITAF

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 2 (06 Dec 2005)
      Previous versions | rss
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    Functioni

    Probable role in regulating transcription of specific genes. May regulate through NFKB1 the expression of the CCL2/MCP-1 chemokine. May play a role in tumor necrosis factor alpha (TNF-alpha) gene expression.

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. signal transducer activity Source: UniProtKB
    3. WW domain binding Source: UniProtKB

    GO - Biological processi

    1. aging Source: Ensembl
    2. apoptotic process Source: UniProtKB-KW
    3. cellular response to lipopolysaccharide Source: Ensembl
    4. negative regulation of NF-kappaB import into nucleus Source: Ensembl
    5. positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
    6. regulation of cytokine production Source: Ensembl
    7. regulation of transcription from RNA polymerase II promoter Source: ProtInc
    8. signal transduction Source: GOC
    9. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Apoptosis, Transcription, Transcription regulation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lipopolysaccharide-induced tumor necrosis factor-alpha factor
    Short name:
    LPS-induced TNF-alpha factor
    Alternative name(s):
    Small integral membrane protein of lysosome/late endosome
    p53-induced gene 7 protein
    Gene namesi
    Name:LITAF
    Synonyms:PIG7, SIMPLE
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:16841. LITAF.

    Subcellular locationi

    Lysosome membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication
    Note: Associated with membranes of lysosomes.

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. Golgi apparatus Source: UniProtKB
    3. intracellular membrane-bounded organelle Source: HPA
    4. lysosomal membrane Source: MGI
    5. nucleus Source: HPA
    6. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491T → M in CMT1C. 1 Publication
    Corresponds to variant rs141862602 [ dbSNP | Ensembl ].
    VAR_024015
    Natural varianti112 – 1121G → S in CMT1C. 3 Publications
    VAR_024017
    Natural varianti115 – 1151T → N in CMT1C. 1 Publication
    VAR_024018
    Natural varianti116 – 1161W → G in CMT1C. 1 Publication
    VAR_024019
    Natural varianti122 – 1221L → V in CMT1C. 1 Publication
    VAR_024020
    Defects in LITAF may be involved in extramammary Paget disease (EMPD) carcinogenesis. EMPD is a cancerous disease representing about 8% of all malignant skin cancers; it usually appears in the anogenital area and can be fatal by metastasizing to internal organs when left untreated for a long time. The clinical features are usually those of eczematous eruptions with weeping and crust formation.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi23 – 231Y → A: Abolishes interactions with WWOX. 1 Publication
    Mutagenesisi61 – 611Y → A: No effect on interaction with WWOX. 1 Publication

    Keywords - Diseasei

    Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy, Proto-oncogene

    Organism-specific databases

    MIMi601098. phenotype.
    Orphaneti101083. Charcot-Marie-Tooth disease type 1C.
    PharmGKBiPA134879224.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 161161Lipopolysaccharide-induced tumor necrosis factor-alpha factorPRO_0000084440Add
    BLAST

    Proteomic databases

    PRIDEiQ99732.

    PTM databases

    PhosphoSiteiQ99732.

    Expressioni

    Tissue specificityi

    Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen.2 Publications

    Inductioni

    By bacterial lipopolysaccharides (LPS) or p53/TP53. In monocytes by the Bacillus Calmette-Guerin (BCG).3 Publications

    Gene expression databases

    ArrayExpressiQ99732.
    BgeeiQ99732.
    CleanExiHS_LITAF.
    GenevestigatoriQ99732.

    Organism-specific databases

    HPAiHPA006960.

    Interactioni

    Subunit structurei

    Interacts with NEDD4 By similarity. Interacts with WWOX. Isoform 2 may interact with STAT6.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NEDD4P469344EBI-725647,EBI-726944
    TSG101Q998163EBI-725647,EBI-346882
    WWOXQ9NZC75EBI-725647,EBI-4320739

    Protein-protein interaction databases

    BioGridi114893. 8 interactions.
    IntActiQ99732. 6 interactions.
    MINTiMINT-1391850.
    STRINGi9606.ENSP00000340118.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99732.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi20 – 234WW-binding

    Domaini

    The WW-binding motif mediates interaction with WWOX and, probably NEDD4.1 Publication

    Sequence similaritiesi

    Belongs to the CDIP1/LITAF family.Curated

    Phylogenomic databases

    eggNOGiNOG41852.
    HOGENOMiHOG000039585.
    HOVERGENiHBG006272.
    OMAiPFCIDAL.
    OrthoDBiEOG7XH6RR.
    PhylomeDBiQ99732.
    TreeFamiTF313294.

    Family and domain databases

    InterProiIPR006629. LITAF.
    [Graphical view]
    PfamiPF10601. zf-LITAF-like. 1 hit.
    [Graphical view]
    SMARTiSM00714. LITAF. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99732-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MSVPGPYQAA TGPSSAPSAP PSYEETVAVN SYYPTPPAPM PGPTTGLVTG    50
    PDGKGMNPPS YYTQPAPIPN NNPITVQTVY VQHPITFLDR PIQMCCPSCN 100
    KMIVSQLSYN AGALTWLSCG SLCLLGCIAG CCFIPFCVDA LQDVDHYCPN 150
    CRALLGTYKR L 161
    Length:161
    Mass (Da):17,107
    Last modified:December 6, 2005 - v2
    Checksum:i08D15BF1FDCA16F0
    GO
    Isoform 2 (identifier: Q99732-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         127-161: CIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKRL → VHSGLLLHPL...TPEIAAWSRA

    Note: May be due to a frameshift that creates an unconventional splicing site. Data inferred from this isoform must be interpreted with caution.

    Show »
    Length:228
    Mass (Da):23,903
    Checksum:i2672B55AD96FC4B5
    GO
    Isoform 3 (identifier: Q99732-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         127-161: CIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKRL → QECSGTIVALRSFDLLGSCNPPSSAS

    Note: No experimental confirmation available.

    Show »
    Length:152
    Mass (Da):15,824
    Checksum:iE2270BD322D63344
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti23 – 231Y → H in one EMPD primary tumor; somatic mutation. 1 Publication
    VAR_024014
    Natural varianti49 – 491T → M in CMT1C. 1 Publication
    Corresponds to variant rs141862602 [ dbSNP | Ensembl ].
    VAR_024015
    Natural varianti92 – 921I → V.2 Publications
    Corresponds to variant rs4280262 [ dbSNP | Ensembl ].
    VAR_024016
    Natural varianti112 – 1121G → S in CMT1C. 3 Publications
    VAR_024017
    Natural varianti115 – 1151T → N in CMT1C. 1 Publication
    VAR_024018
    Natural varianti116 – 1161W → G in CMT1C. 1 Publication
    VAR_024019
    Natural varianti122 – 1221L → V in CMT1C. 1 Publication
    VAR_024020
    Isoform 2 (identifier: Q99732-2)
    Natural varianti174 – 1741A → S Found as a somatic mutation in a EMPD primary tumor.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei127 – 16135CIAGC…TYKRL → VHSGLLLHPLLRGCPAGRGP LLSQLQSSPGHLQAFVGLSQ TWREPGAAGSPFHLSSSFTP GGGSALVVSPLQGAHLHVFF WGEYVAKLTNLQTPEIAAWS RA in isoform 2. 2 PublicationsVSP_016461Add
    BLAST
    Alternative sequencei127 – 16135CIAGC…TYKRL → QECSGTIVALRSFDLLGSCN PPSSAS in isoform 3. 1 PublicationVSP_045701Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF010312 mRNA. Translation: AAC39530.1.
    U77396 mRNA. Translation: AAB36550.1.
    AB034747 mRNA. Translation: BAB32547.1.
    AK095955 mRNA. No translation available.
    BX537543 mRNA. Translation: CAD97778.1.
    AC007616 Genomic DNA. No translation available.
    AC099489 Genomic DNA. No translation available.
    CH471112 Genomic DNA. Translation: EAW85150.1.
    CH471112 Genomic DNA. Translation: EAW85151.1.
    CH471112 Genomic DNA. Translation: EAW85152.1.
    CH471112 Genomic DNA. Translation: EAW85153.1.
    BC000053 mRNA. Translation: AAH00053.1.
    BC008309 mRNA. Translation: AAH08309.1.
    BC016491 mRNA. Translation: AAH16491.1.
    BC039840 mRNA. Translation: AAH39840.1.
    BC046154 mRNA. Translation: AAH46154.1.
    BC096063 mRNA. Translation: AAH96063.1.
    BC096065 mRNA. Translation: AAH96065.1.
    BC096066 mRNA. Translation: AAH96066.1.
    BC101401 mRNA. Translation: AAI01402.1.
    BC101402 mRNA. Translation: AAI01403.1.
    BC101969 mRNA. Translation: AAI01970.1.
    CCDSiCCDS32386.1. [Q99732-1]
    CCDS45411.1. [Q99732-3]
    RefSeqiNP_001129944.1. NM_001136472.1. [Q99732-1]
    NP_001129945.1. NM_001136473.1. [Q99732-3]
    NP_004853.2. NM_004862.3. [Q99732-1]
    XP_006721045.1. XM_006720982.1. [Q99732-1]
    XP_006721046.1. XM_006720983.1. [Q99732-1]
    XP_006721047.1. XM_006720984.1. [Q99732-1]
    XP_006721048.1. XM_006720985.1. [Q99732-1]
    UniGeneiHs.459940.

    Genome annotation databases

    EnsembliENST00000339430; ENSP00000340118; ENSG00000189067. [Q99732-1]
    ENST00000381810; ENSP00000371231; ENSG00000189067. [Q99732-2]
    ENST00000413364; ENSP00000397958; ENSG00000189067. [Q99732-3]
    ENST00000570904; ENSP00000459138; ENSG00000189067. [Q99732-1]
    ENST00000571688; ENSP00000459533; ENSG00000189067. [Q99732-1]
    ENST00000574763; ENSP00000461813; ENSG00000189067. [Q99732-1]
    ENST00000576036; ENSP00000461667; ENSG00000189067. [Q99732-1]
    GeneIDi9516.
    KEGGihsa:9516.
    UCSCiuc002daz.3. human. [Q99732-1]
    uc002dba.3. human.

    Polymorphism databases

    DMDMi83304387.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Inherited peripheral neuropathies mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF010312 mRNA. Translation: AAC39530.1 .
    U77396 mRNA. Translation: AAB36550.1 .
    AB034747 mRNA. Translation: BAB32547.1 .
    AK095955 mRNA. No translation available.
    BX537543 mRNA. Translation: CAD97778.1 .
    AC007616 Genomic DNA. No translation available.
    AC099489 Genomic DNA. No translation available.
    CH471112 Genomic DNA. Translation: EAW85150.1 .
    CH471112 Genomic DNA. Translation: EAW85151.1 .
    CH471112 Genomic DNA. Translation: EAW85152.1 .
    CH471112 Genomic DNA. Translation: EAW85153.1 .
    BC000053 mRNA. Translation: AAH00053.1 .
    BC008309 mRNA. Translation: AAH08309.1 .
    BC016491 mRNA. Translation: AAH16491.1 .
    BC039840 mRNA. Translation: AAH39840.1 .
    BC046154 mRNA. Translation: AAH46154.1 .
    BC096063 mRNA. Translation: AAH96063.1 .
    BC096065 mRNA. Translation: AAH96065.1 .
    BC096066 mRNA. Translation: AAH96066.1 .
    BC101401 mRNA. Translation: AAI01402.1 .
    BC101402 mRNA. Translation: AAI01403.1 .
    BC101969 mRNA. Translation: AAI01970.1 .
    CCDSi CCDS32386.1. [Q99732-1 ]
    CCDS45411.1. [Q99732-3 ]
    RefSeqi NP_001129944.1. NM_001136472.1. [Q99732-1 ]
    NP_001129945.1. NM_001136473.1. [Q99732-3 ]
    NP_004853.2. NM_004862.3. [Q99732-1 ]
    XP_006721045.1. XM_006720982.1. [Q99732-1 ]
    XP_006721046.1. XM_006720983.1. [Q99732-1 ]
    XP_006721047.1. XM_006720984.1. [Q99732-1 ]
    XP_006721048.1. XM_006720985.1. [Q99732-1 ]
    UniGenei Hs.459940.

    3D structure databases

    ProteinModelPortali Q99732.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114893. 8 interactions.
    IntActi Q99732. 6 interactions.
    MINTi MINT-1391850.
    STRINGi 9606.ENSP00000340118.

    Chemistry

    BindingDBi Q99732.

    PTM databases

    PhosphoSitei Q99732.

    Polymorphism databases

    DMDMi 83304387.

    Proteomic databases

    PRIDEi Q99732.

    Protocols and materials databases

    DNASUi 9516.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000339430 ; ENSP00000340118 ; ENSG00000189067 . [Q99732-1 ]
    ENST00000381810 ; ENSP00000371231 ; ENSG00000189067 . [Q99732-2 ]
    ENST00000413364 ; ENSP00000397958 ; ENSG00000189067 . [Q99732-3 ]
    ENST00000570904 ; ENSP00000459138 ; ENSG00000189067 . [Q99732-1 ]
    ENST00000571688 ; ENSP00000459533 ; ENSG00000189067 . [Q99732-1 ]
    ENST00000574763 ; ENSP00000461813 ; ENSG00000189067 . [Q99732-1 ]
    ENST00000576036 ; ENSP00000461667 ; ENSG00000189067 . [Q99732-1 ]
    GeneIDi 9516.
    KEGGi hsa:9516.
    UCSCi uc002daz.3. human. [Q99732-1 ]
    uc002dba.3. human.

    Organism-specific databases

    CTDi 9516.
    GeneCardsi GC16M011641.
    GeneReviewsi LITAF.
    H-InvDB HIX0134387.
    HGNCi HGNC:16841. LITAF.
    HPAi HPA006960.
    MIMi 601098. phenotype.
    603795. gene.
    neXtProti NX_Q99732.
    Orphaneti 101083. Charcot-Marie-Tooth disease type 1C.
    PharmGKBi PA134879224.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41852.
    HOGENOMi HOG000039585.
    HOVERGENi HBG006272.
    OMAi PFCIDAL.
    OrthoDBi EOG7XH6RR.
    PhylomeDBi Q99732.
    TreeFami TF313294.

    Miscellaneous databases

    ChiTaRSi LITAF. human.
    GeneWikii LITAF.
    GenomeRNAii 9516.
    NextBioi 35662.
    PROi Q99732.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99732.
    Bgeei Q99732.
    CleanExi HS_LITAF.
    Genevestigatori Q99732.

    Family and domain databases

    InterProi IPR006629. LITAF.
    [Graphical view ]
    Pfami PF10601. zf-LITAF-like. 1 hit.
    [Graphical view ]
    SMARTi SM00714. LITAF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INDUCTION BY TP53.
      Tissue: Colon cancer.
    2. "A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment."
      Myokai F., Takashiba S., Lebo R., Amar S.
      Proc. Natl. Acad. Sci. U.S.A. 96:4518-4523(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INDUCTION, TISSUE SPECIFICITY.
      Tissue: Monocyte.
    3. "Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1."
      Moriwaki Y., Begum N.A., Kobayashi M., Matsumoto M., Toyoshima K., Seya T.
      J. Biol. Chem. 276:23065-23076(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INDUCTION, SUBCELLULAR LOCATION.
      Tissue: Monocyte.
    4. "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.
      , 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] (ISOFORM 3).
      Tissue: Hair follicle dermal papilla.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Esophageal carcinoma.
    6. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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).
      Tissue: Kidney, Pancreas, PNS and Skin.
    9. "WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins."
      Ludes-Meyers J.H., Kil H., Bednarek A.K., Drake J., Bedford M.T., Aldaz C.M.
      Oncogene 23:5049-5055(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH WWOX, DOMAIN, MUTAGENESIS OF TYR-23 AND TYR-61.
    10. "LPS induces the interaction of a transcription factor, LPS-induced TNF-alpha factor, and STAT6(B) with effects on multiple cytokines."
      Tang X., Marciano D.L., Leeman S.E., Amar S.
      Proc. Natl. Acad. Sci. U.S.A. 102:5132-5137(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH STAT6.
    11. "Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C."
      Street V.A., Bennett C.L., Goldy J.D., Shirk A.J., Kleopa K.A., Tempel B.L., Lipe H.P., Scherer S.S., Bird T.D., Chance P.F.
      Neurology 60:22-26(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMT1C SER-112; ASN-115 AND GLY-116.
    12. "PIG7/LITAF gene mutation and overexpression of its gene product in extramammary Paget's disease."
      Matsumura Y., Matsumura Y., Nishigori C., Horio T., Miyachi Y.
      Int. J. Cancer 111:218-223(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EMPD HIS-23.
    13. "Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease."
      Meggouh F., de Visser M., Arts W.F.M., De Coo R.I.F.M., van Schaik I.N., Baas F.
      Ann. Neurol. 57:589-591(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMT1C SER-112, VARIANT VAL-92.
    14. "SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation."
      Saifi G.M., Szigeti K., Wiszniewski W., Shy M.E., Krajewski K., Hausmanowa-Petrusewicz I., Kochanski A., Reeser S., Mancias P., Butler I., Lupski J.R.
      Hum. Mutat. 25:372-383(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMT1C MET-49; SER-112 AND VAL-122, VARIANT VAL-92.

    Entry informationi

    Entry nameiLITAF_HUMAN
    AccessioniPrimary (citable) accession number: Q99732
    Secondary accession number(s): D3DUG1
    , G5E9K0, Q05DW0, Q9C0L6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: December 6, 2005
    Last modified: October 1, 2014
    This is version 129 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3