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Protein

Lipopolysaccharide-induced tumor necrosis factor-alpha factor

Gene

LITAF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • signal transducer activity Source: UniProtKB
  • WW domain binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Apoptosis, Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:G66-32684-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: 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

  • cytoplasm Source: HPA
  • Golgi apparatus Source: UniProtKB
  • intracellular membrane-bounded organelle Source: HPA
  • lysosomal membrane Source: MGI
  • nucleoplasm Source: HPA
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 1C (CMT1C)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601098
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02401549T → M in CMT1C. 1 PublicationCorresponds to variant rs141862602dbSNPEnsembl.1
Natural variantiVAR_024017112G → S in CMT1C. 3 PublicationsCorresponds to variant rs104894519dbSNPEnsembl.1
Natural variantiVAR_024018115T → N in CMT1C. 1 PublicationCorresponds to variant rs104894520dbSNPEnsembl.1
Natural variantiVAR_024019116W → G in CMT1C. 1 PublicationCorresponds to variant rs104894521dbSNPEnsembl.1
Natural variantiVAR_024020122L → V in CMT1C. 1 PublicationCorresponds to variant rs104894522dbSNPEnsembl.1

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)DescriptionActionsGraphical viewLength
Mutagenesisi23Y → A: Abolishes interactions with WWOX. 1 Publication1
Mutagenesisi61Y → A: No effect on interaction with WWOX. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi9516.
MalaCardsiLITAF.
MIMi601098. phenotype.
OpenTargetsiENSG00000189067.
Orphaneti101083. Charcot-Marie-Tooth disease type 1C.
PharmGKBiPA134879224.

Polymorphism and mutation databases

BioMutaiLITAF.
DMDMi83304387.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000844401 – 161Lipopolysaccharide-induced tumor necrosis factor-alpha factorAdd BLAST161

Proteomic databases

PaxDbiQ99732.
PeptideAtlasiQ99732.
PRIDEiQ99732.

PTM databases

iPTMnetiQ99732.
PhosphoSitePlusiQ99732.

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

BgeeiENSG00000189067.
CleanExiHS_LITAF.
ExpressionAtlasiQ99732. baseline and differential.
GenevisibleiQ99732. HS.

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
BAG3O958175EBI-725647,EBI-747185
CALCOCO2Q131374EBI-725647,EBI-739580
HGSO149644EBI-725647,EBI-740220
NEDD4P469344EBI-725647,EBI-726944
REEP6Q96HR96EBI-725647,EBI-750345
STAM2O758866EBI-725647,EBI-373258
TSG101Q998163EBI-725647,EBI-346882
UBQLN1Q9UMX04EBI-725647,EBI-741480
UBQLN1Q9UMX0-24EBI-725647,EBI-10173939
WWOXQ9NZC75EBI-725647,EBI-4320739

GO - Molecular functioni

  • WW domain binding Source: UniProtKB

Protein-protein interaction databases

BioGridi114893. 40 interactors.
IntActiQ99732. 22 interactors.
MINTiMINT-1391850.
STRINGi9606.ENSP00000340118.

Structurei

3D structure databases

ProteinModelPortaliQ99732.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi20 – 23WW-binding4

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

eggNOGiENOG410IVVU. Eukaryota.
ENOG41122PJ. LUCA.
GeneTreeiENSGT00540000071542.
HOGENOMiHOG000039585.
HOVERGENiHBG006272.
InParanoidiQ99732.
KOiK19363.
OMAiPFCIDAL.
OrthoDBiEOG091G0XNM.
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. AlignAdd to basket

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

        10         20         30         40         50
MSVPGPYQAA TGPSSAPSAP PSYEETVAVN SYYPTPPAPM PGPTTGLVTG
60 70 80 90 100
PDGKGMNPPS YYTQPAPIPN NNPITVQTVY VQHPITFLDR PIQMCCPSCN
110 120 130 140 150
KMIVSQLSYN AGALTWLSCG SLCLLGCIAG CCFIPFCVDA LQDVDHYCPN
160
CRALLGTYKR L
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_02401423Y → H in one EMPD primary tumor; somatic mutation. 1 Publication1
Natural variantiVAR_02401549T → M in CMT1C. 1 PublicationCorresponds to variant rs141862602dbSNPEnsembl.1
Natural variantiVAR_02401692I → V.2 PublicationsCorresponds to variant rs4280262dbSNPEnsembl.1
Natural variantiVAR_024017112G → S in CMT1C. 3 PublicationsCorresponds to variant rs104894519dbSNPEnsembl.1
Natural variantiVAR_024018115T → N in CMT1C. 1 PublicationCorresponds to variant rs104894520dbSNPEnsembl.1
Natural variantiVAR_024019116W → G in CMT1C. 1 PublicationCorresponds to variant rs104894521dbSNPEnsembl.1
Natural variantiVAR_024020122L → V in CMT1C. 1 PublicationCorresponds to variant rs104894522dbSNPEnsembl.1
Isoform 2 (identifier: Q99732-2)
Natural varianti174A → S Found as a somatic mutation in a EMPD primary tumor. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016461127 – 161CIAGC…TYKRL → VHSGLLLHPLLRGCPAGRGP LLSQLQSSPGHLQAFVGLSQ TWREPGAAGSPFHLSSSFTP GGGSALVVSPLQGAHLHVFF WGEYVAKLTNLQTPEIAAWS RA in isoform 2. 2 PublicationsAdd BLAST35
Alternative sequenceiVSP_045701127 – 161CIAGC…TYKRL → QECSGTIVALRSFDLLGSCN PPSSAS in isoform 3. 1 PublicationAdd BLAST35

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_006720982.2. [Q99732-1]
XP_006721046.1. XM_006720983.3. [Q99732-1]
XP_006721047.1. XM_006720984.3. [Q99732-1]
XP_006721048.1. XM_006720985.3. [Q99732-1]
XP_016879385.1. XM_017023896.1. [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]
ENST00000620789; ENSP00000481589; ENSG00000189067. [Q99732-3]
ENST00000622633; ENSP00000483114; ENSG00000189067. [Q99732-1]
GeneIDi9516.
KEGGihsa:9516.
UCSCiuc002daz.4. human. [Q99732-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_006720982.2. [Q99732-1]
XP_006721046.1. XM_006720983.3. [Q99732-1]
XP_006721047.1. XM_006720984.3. [Q99732-1]
XP_006721048.1. XM_006720985.3. [Q99732-1]
XP_016879385.1. XM_017023896.1. [Q99732-1]
UniGeneiHs.459940.

3D structure databases

ProteinModelPortaliQ99732.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114893. 40 interactors.
IntActiQ99732. 22 interactors.
MINTiMINT-1391850.
STRINGi9606.ENSP00000340118.

PTM databases

iPTMnetiQ99732.
PhosphoSitePlusiQ99732.

Polymorphism and mutation databases

BioMutaiLITAF.
DMDMi83304387.

Proteomic databases

PaxDbiQ99732.
PeptideAtlasiQ99732.
PRIDEiQ99732.

Protocols and materials databases

DNASUi9516.
Structural Biology KnowledgebaseSearch...

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]
ENST00000620789; ENSP00000481589; ENSG00000189067. [Q99732-3]
ENST00000622633; ENSP00000483114; ENSG00000189067. [Q99732-1]
GeneIDi9516.
KEGGihsa:9516.
UCSCiuc002daz.4. human. [Q99732-1]

Organism-specific databases

CTDi9516.
DisGeNETi9516.
GeneCardsiLITAF.
GeneReviewsiLITAF.
H-InvDBHIX0134387.
HGNCiHGNC:16841. LITAF.
HPAiHPA006960.
MalaCardsiLITAF.
MIMi601098. phenotype.
603795. gene.
neXtProtiNX_Q99732.
OpenTargetsiENSG00000189067.
Orphaneti101083. Charcot-Marie-Tooth disease type 1C.
PharmGKBiPA134879224.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVVU. Eukaryota.
ENOG41122PJ. LUCA.
GeneTreeiENSGT00540000071542.
HOGENOMiHOG000039585.
HOVERGENiHBG006272.
InParanoidiQ99732.
KOiK19363.
OMAiPFCIDAL.
OrthoDBiEOG091G0XNM.
PhylomeDBiQ99732.
TreeFamiTF313294.

Enzyme and pathway databases

BioCyciZFISH:G66-32684-MONOMER.

Miscellaneous databases

ChiTaRSiLITAF. human.
GeneWikiiLITAF.
GenomeRNAii9516.
PROiQ99732.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000189067.
CleanExiHS_LITAF.
ExpressionAtlasiQ99732. baseline and differential.
GenevisibleiQ99732. HS.

Family and domain databases

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

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: November 30, 2016
This is version 150 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.