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Q99732 (LITAF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. 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·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:LITAF
Synonyms:PIG7, SIMPLE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length161 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with NEDD4 By similarity. Interacts with WWOX. Isoform 2 may interact with STAT6. Ref.9 Ref.10

Subcellular location

Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note: Associated with membranes of lysosomes. Ref.3

Tissue specificity

Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen. Ref.2 Ref.3

Induction

By bacterial lipopolysaccharides (LPS) or p53/TP53. In monocytes by the Bacillus Calmette-Guerin (BCG). Ref.1 Ref.2 Ref.3

Domain

The WW-binding motif mediates interaction with WWOX and, probably NEDD4. Ref.9

Involvement in disease

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. Ref.11 Ref.13 Ref.14

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. Ref.12

Sequence similarities

Belongs to the CDIP1/LITAF family.

Ontologies

Keywords
   Biological processApoptosis
Transcription
Transcription regulation
   Cellular componentLysosome
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCharcot-Marie-Tooth disease
Disease mutation
Neurodegeneration
Neuropathy
Proto-oncogene
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaging

Inferred from electronic annotation. Source: Ensembl

apoptotic process

Inferred from electronic annotation. Source: UniProtKB-KW

cellular response to lipopolysaccharide

Inferred from electronic annotation. Source: Ensembl

negative regulation of NF-kappaB import into nucleus

Inferred from electronic annotation. Source: Ensembl

positive regulation of I-kappaB kinase/NF-kappaB signaling

Inferred from mutant phenotype PubMed 12761501. Source: UniProtKB

regulation of cytokine production

Inferred from electronic annotation. Source: Ensembl

regulation of transcription from RNA polymerase II promoter

Traceable author statement Ref.2. Source: ProtInc

signal transduction

Inferred from mutant phenotype PubMed 12761501. Source: GOC

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentGolgi apparatus

Inferred from direct assay Ref.9. Source: UniProtKB

cytoplasm

Inferred from direct assay. Source: HPA

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

lysosomal membrane

Inferred from direct assay Ref.3. Source: MGI

nucleus

Inferred from direct assay. Source: HPA

plasma membrane

Inferred from mutant phenotype PubMed 16118794. Source: UniProtKB

   Molecular_functionWW domain binding

Inferred from physical interaction Ref.9. Source: UniProtKB

signal transducer activity

Inferred from mutant phenotype PubMed 12761501. Source: UniProtKB

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99732-1)

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: Q99732-2)

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.
Isoform 3 (identifier: Q99732-3)

The sequence of this isoform differs from the canonical sequence as follows:
     127-161: CIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKRL → QECSGTIVALRSFDLLGSCNPPSSAS
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 161161Lipopolysaccharide-induced tumor necrosis factor-alpha factor
PRO_0000084440

Regions

Motif20 – 234WW-binding

Natural variations

Alternative sequence127 – 16135CIAGC…TYKRL → VHSGLLLHPLLRGCPAGRGP LLSQLQSSPGHLQAFVGLSQ TWREPGAAGSPFHLSSSFTP GGGSALVVSPLQGAHLHVFF WGEYVAKLTNLQTPEIAAWS RA in isoform 2.
VSP_016461
Alternative sequence127 – 16135CIAGC…TYKRL → QECSGTIVALRSFDLLGSCN PPSSAS in isoform 3.
VSP_045701
Natural variant231Y → H in one EMPD primary tumor; somatic mutation. Ref.12
VAR_024014
Natural variant491T → M in CMT1C. Ref.14
Corresponds to variant rs141862602 [ dbSNP | Ensembl ].
VAR_024015
Natural variant921I → V. Ref.13 Ref.14
Corresponds to variant rs4280262 [ dbSNP | Ensembl ].
VAR_024016
Natural variant1121G → S in CMT1C. Ref.11 Ref.13 Ref.14
VAR_024017
Natural variant1151T → N in CMT1C. Ref.11
VAR_024018
Natural variant1161W → G in CMT1C. Ref.11
VAR_024019
Natural variant1221L → V in CMT1C. Ref.14
VAR_024020
Isoform 2:
Natural variant1741A → S Found as a somatic mutation in a EMPD primary tumor.

Experimental info

Mutagenesis231Y → A: Abolishes interactions with WWOX. Ref.9
Mutagenesis611Y → A: No effect on interaction with WWOX. Ref.9

Sequences

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

Last modified December 6, 2005. Version 2.
Checksum: 08D15BF1FDCA16F0

FASTA16117,107
        10         20         30         40         50         60 
MSVPGPYQAA TGPSSAPSAP PSYEETVAVN SYYPTPPAPM PGPTTGLVTG PDGKGMNPPS 

        70         80         90        100        110        120 
YYTQPAPIPN NNPITVQTVY VQHPITFLDR PIQMCCPSCN KMIVSQLSYN AGALTWLSCG 

       130        140        150        160 
SLCLLGCIAG CCFIPFCVDA LQDVDHYCPN CRALLGTYKR L 

« Hide

Isoform 2 [UniParc].

Checksum: 2672B55AD96FC4B5
Show »

FASTA22823,903
Isoform 3 [UniParc].

Checksum: E2270BD322D63344
Show »

FASTA15215,824

References

« Hide 'large scale' references
[1]"A model for p53-induced apoptosis."
Polyak K., Xia Y., Zweier J.L., Kinzler K.W., Vogelstein B.
Nature 389:300-306(1997) [PubMed] [Europe PMC] [Abstract]
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. 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] (ISOFORM 3).
Tissue: Hair follicle dermal papilla.
[5]"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: 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. expand/collapse author list , 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]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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001129944.1. NM_001136472.1.
NP_001129945.1. NM_001136473.1.
NP_004853.2. NM_004862.3.
UniGeneHs.459940.

3D structure databases

ProteinModelPortalQ99732.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114893. 8 interactions.
IntActQ99732. 6 interactions.
MINTMINT-1391850.
STRING9606.ENSP00000340118.

Chemistry

BindingDBQ99732.

PTM databases

PhosphoSiteQ99732.

Polymorphism databases

DMDM83304387.

Proteomic databases

PRIDEQ99732.

Protocols and materials databases

DNASU9516.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000339430; 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]
GeneID9516.
KEGGhsa:9516.
UCSCuc002daz.3. human. [Q99732-1]
uc002dba.3. human.

Organism-specific databases

CTD9516.
GeneCardsGC16M011641.
H-InvDBHIX0134387.
HGNCHGNC:16841. LITAF.
HPAHPA006960.
MIM601098. phenotype.
603795. gene.
neXtProtNX_Q99732.
Orphanet101083. Charcot-Marie-Tooth disease type 1C.
PharmGKBPA134879224.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41852.
HOGENOMHOG000039585.
HOVERGENHBG006272.
OMACIAGCCL.
OrthoDBEOG7XH6RR.
PhylomeDBQ99732.
TreeFamTF313294.

Gene expression databases

ArrayExpressQ99732.
BgeeQ99732.
CleanExHS_LITAF.
GenevestigatorQ99732.

Family and domain databases

InterProIPR006629. LITAF.
[Graphical view]
PfamPF10601. zf-LITAF-like. 1 hit.
[Graphical view]
SMARTSM00714. LITAF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLITAF. human.
GeneWikiLITAF.
GenomeRNAi9516.
NextBio35662.
PROQ99732.
SOURCESearch...

Entry information

Entry nameLITAF_HUMAN
AccessionPrimary (citable) accession number: Q99732
Secondary accession number(s): D3DUG1 expand/collapse secondary AC list , G5E9K0, Q05DW0, Q9C0L6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: December 6, 2005
Last modified: April 16, 2014
This is version 125 of the entry and version 2 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 16

Human chromosome 16: entries, gene names and cross-references to MIM