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Q99732

- LITAF_HUMAN

UniProt

Q99732 - LITAF_HUMAN

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Protein
Lipopolysaccharide-induced tumor necrosis factor-alpha factor
Gene
LITAF, PIG7, SIMPLE
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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. WW domain binding Source: UniProtKB
  2. protein binding Source: IntAct
  3. signal transducer activity 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
Complete GO annotation...

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

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.1 Publication

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 factor
PRO_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 STAT6.2 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.

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.

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.
VSP_016461Add
BLAST
Alternative sequencei127 – 16135CIAGC…TYKRL → QECSGTIVALRSFDLLGSCN PPSSAS in isoform 3.
VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 128 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

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