Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q92562

- FIG4_HUMAN

UniProt

Q92562 - FIG4_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Polyphosphoinositide phosphatase

Gene

FIG4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.1 Publication

GO - Molecular functioni

  1. phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity Source: Reactome
  2. phosphatidylinositol-3-phosphatase activity Source: Ensembl
  3. phosphatidylinositol-4-phosphate phosphatase activity Source: Ensembl

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. locomotory behavior Source: Ensembl
  3. myelin assembly Source: Ensembl
  4. negative regulation of myelination Source: Ensembl
  5. neuron development Source: Ensembl
  6. phosphatidylinositol-3-phosphate biosynthetic process Source: GOC
  7. phosphatidylinositol biosynthetic process Source: Reactome
  8. phospholipid metabolic process Source: Reactome
  9. pigmentation Source: Ensembl
  10. positive regulation of neuron projection development Source: Ensembl
  11. small molecule metabolic process Source: Reactome
  12. vacuole organization Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS12771-MONOMER.
ReactomeiREACT_120756. Synthesis of PIPs at the early endosome membrane.
REACT_120836. Synthesis of PIPs at the Golgi membrane.
REACT_120918. Synthesis of PIPs at the late endosome membrane.
REACT_198970. Synthesis of PIPs at the Golgi membrane.
REACT_198972. Synthesis of PIPs at the late endosome membrane.
REACT_198975. Synthesis of PIPs at the early endosome membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Polyphosphoinositide phosphatase (EC:3.1.3.-)
Alternative name(s):
Phosphatidylinositol 3,5-bisphosphate 5-phosphatase
SAC domain-containing protein 3
Gene namesi
Name:FIG4
Synonyms:KIAA0274, SAC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:16873. FIG4.

Subcellular locationi

Endosome membrane 1 Publication
Note: Localization requires VAC14 and PIKFYVE.

GO - Cellular componenti

  1. early endosome membrane Source: Reactome
  2. endosome membrane Source: UniProtKB
  3. Golgi membrane Source: Reactome
  4. late endosome membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]: A recessive 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. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411I → T in CMT4J; the mutant protein is unstable; low levels of the protein results from impaired interaction with VAC14; is a hypomorphic allele. 1 Publication
Corresponds to variant rs121908287 [ dbSNP | Ensembl ].
VAR_036974
Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531D → Y in ALS11. 1 Publication
VAR_054832
Yunis-Varon syndrome (YVS) [MIM:216340]: A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1041G → D in YVS; complete loss of functiom mutation. 1 Publication
VAR_070051
Natural varianti175 – 1751L → P in YVS; complete loss of functiom mutation. 1 Publication
VAR_070052

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi488 – 4881D → A: Loss of activity. 1 Publication

Keywords - Diseasei

Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi216340. phenotype.
611228. phenotype.
612577. phenotype.
Orphaneti803. Amyotrophic lateral sclerosis.
208441. Bilateral parasagittal parieto-occipital polymicrogyria.
139515. Charcot-Marie-Tooth disease type 4J.
35689. Primary lateral sclerosis.
3472. Yunis-Varon syndrome.
PharmGKBiPA162388528.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 907907Polyphosphoinositide phosphatasePRO_0000209743Add
BLAST

Proteomic databases

MaxQBiQ92562.
PaxDbiQ92562.
PRIDEiQ92562.

PTM databases

PhosphoSiteiQ92562.

Expressioni

Gene expression databases

BgeeiQ92562.
CleanExiHS_FIG4.
ExpressionAtlasiQ92562. baseline and differential.
GenevestigatoriQ92562.

Organism-specific databases

HPAiCAB017823.

Interactioni

Subunit structurei

Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold.2 Publications

Protein-protein interaction databases

BioGridi115225. 8 interactions.
IntActiQ92562. 1 interaction.
MINTiMINT-2812974.
STRINGi9606.ENSP00000230124.

Structurei

3D structure databases

ProteinModelPortaliQ92562.
SMRiQ92562. Positions 15-549.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini154 – 547394SACPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi746 – 7494Poly-Pro
Compositional biasi755 – 7584Poly-Ser

Sequence similaritiesi

Contains 1 SAC domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5329.
GeneTreeiENSGT00550000074943.
HOGENOMiHOG000168063.
InParanoidiQ92562.
OMAiRDFMPKN.
OrthoDBiEOG73FQM1.
PhylomeDBiQ92562.
TreeFamiTF105702.

Family and domain databases

InterProiIPR002013. Syja_N.
[Graphical view]
PfamiPF02383. Syja_N. 1 hit.
[Graphical view]
PROSITEiPS50275. SAC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q92562-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPTAAAPIIS SVQKLVLYET RARYFLVGSN NAETKYRVLK IDRTEPKDLV
60 70 80 90 100
IIDDRHVYTQ QEVRELLGRL DLGNRTKMGQ KGSSGLFRAV SAFGVVGFVR
110 120 130 140 150
FLEGYYIVLI TKRRKMADIG GHAIYKVEDT NMIYIPNDSV RVTHPDEARY
160 170 180 190 200
LRIFQNVDLS SNFYFSYSYD LSHSLQYNLT VLRMPLEMLK SEMTQNRQES
210 220 230 240 250
FDIFEDEGLI TQGGSGVFGI CSEPYMKYVW NGELLDIIKS TVHRDWLLYI
260 270 280 290 300
IHGFCGQSKL LIYGRPVYVT LIARRSSKFA GTRFLKRGAN CEGDVANEVE
310 320 330 340 350
TEQILCDASV MSFTAGSYSS YVQVRGSVPL YWSQDISTMM PKPPITLDQA
360 370 380 390 400
DPFAHVAALH FDQMFQRFGS PIIILNLVKE REKRKHERIL SEELVAAVTY
410 420 430 440 450
LNQFLPPEHT IVYIPWDMAK YTKSKLCNVL DRLNVIAESV VKKTGFFVNR
460 470 480 490 500
PDSYCSILRP DEKWNELGGC VIPTGRLQTG ILRTNCVDCL DRTNTAQFMV
510 520 530 540 550
GKCALAYQLY SLGLIDKPNL QFDTDAVRLF EELYEDHGDT LSLQYGGSQL
560 570 580 590 600
VHRVKTYRKI APWTQHSKDI MQTLSRYYSN AFSDADRQDS INLFLGVFHP
610 620 630 640 650
TEGKPHLWEL PTDFYLHHKN TMRLLPTRRS YTYWWTPEVI KHLPLPYDEV
660 670 680 690 700
ICAVNLKKLI VKKFHKYEEE IDIHNEFFRP YELSSFDDTF CLAMTSSARD
710 720 730 740 750
FMPKTVGIDP SPFTVRKPDE TGKSVLGNKS NREEAVLQRK TAASAPPPPS
760 770 780 790 800
EEAVSSSSED DSGTDREEEG SVSQRSTPVK MTDAGDSAKV TENVVQPMKE
810 820 830 840 850
LYGINLSDGL SEEDFSIYSR FVQLGQSQHK QDKNSQQPCS RCSDGVIKLT
860 870 880 890 900
PISAFSQDNI YEVQPPRVDR KSTEIFQAHI QASQGIMQPL GKEDSSMYRE

YIRNRYL
Length:907
Mass (Da):103,635
Last modified:February 1, 1997 - v1
Checksum:i7B6F115C095EC332
GO

Sequence cautioni

The sequence BAA13403.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti310 – 3101V → A in BAD96452. 1 PublicationCurated
Sequence conflicti453 – 4531S → P in BAD96452. 1 PublicationCurated
Sequence conflicti598 – 5981F → S in BAD96452. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411I → T in CMT4J; the mutant protein is unstable; low levels of the protein results from impaired interaction with VAC14; is a hypomorphic allele. 1 Publication
Corresponds to variant rs121908287 [ dbSNP | Ensembl ].
VAR_036974
Natural varianti48 – 481D → G.1 Publication
VAR_054831
Natural varianti53 – 531D → Y in ALS11. 1 Publication
VAR_054832
Natural varianti104 – 1041G → D in YVS; complete loss of functiom mutation. 1 Publication
VAR_070051
Natural varianti175 – 1751L → P in YVS; complete loss of functiom mutation. 1 Publication
VAR_070052
Natural varianti364 – 3641M → L.
Corresponds to variant rs2295837 [ dbSNP | Ensembl ].
VAR_020378
Natural varianti388 – 3881R → G.1 Publication
VAR_054833
Natural varianti411 – 4111I → V.1 Publication
VAR_054834
Natural varianti647 – 6471Y → C.1 Publication
VAR_054835
Natural varianti654 – 6541V → A.1 Publication
Corresponds to variant rs9885672 [ dbSNP | Ensembl ].
VAR_022826
Natural varianti902 – 9021I → T.1 Publication
VAR_054836

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D87464 mRNA. Translation: BAA13403.2. Different initiation.
AK222732 mRNA. Translation: BAD96452.1.
AL133472, AL512303 Genomic DNA. Translation: CAI19669.1.
AL512303, AL133472 Genomic DNA. Translation: CAI42494.1.
BC041338 mRNA. Translation: AAH41338.1.
CCDSiCCDS5078.1.
RefSeqiNP_055660.1. NM_014845.5.
UniGeneiHs.529959.

Genome annotation databases

EnsembliENST00000230124; ENSP00000230124; ENSG00000112367.
GeneIDi9896.
KEGGihsa:9896.
UCSCiuc003ptt.2. human.

Polymorphism databases

DMDMi2497367.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D87464 mRNA. Translation: BAA13403.2 . Different initiation.
AK222732 mRNA. Translation: BAD96452.1 .
AL133472 , AL512303 Genomic DNA. Translation: CAI19669.1 .
AL512303 , AL133472 Genomic DNA. Translation: CAI42494.1 .
BC041338 mRNA. Translation: AAH41338.1 .
CCDSi CCDS5078.1.
RefSeqi NP_055660.1. NM_014845.5.
UniGenei Hs.529959.

3D structure databases

ProteinModelPortali Q92562.
SMRi Q92562. Positions 15-549.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115225. 8 interactions.
IntActi Q92562. 1 interaction.
MINTi MINT-2812974.
STRINGi 9606.ENSP00000230124.

PTM databases

PhosphoSitei Q92562.

Polymorphism databases

DMDMi 2497367.

Proteomic databases

MaxQBi Q92562.
PaxDbi Q92562.
PRIDEi Q92562.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000230124 ; ENSP00000230124 ; ENSG00000112367 .
GeneIDi 9896.
KEGGi hsa:9896.
UCSCi uc003ptt.2. human.

Organism-specific databases

CTDi 9896.
GeneCardsi GC06P110012.
GeneReviewsi FIG4.
HGNCi HGNC:16873. FIG4.
HPAi CAB017823.
MIMi 216340. phenotype.
609390. gene.
611228. phenotype.
612577. phenotype.
neXtProti NX_Q92562.
Orphaneti 803. Amyotrophic lateral sclerosis.
208441. Bilateral parasagittal parieto-occipital polymicrogyria.
139515. Charcot-Marie-Tooth disease type 4J.
35689. Primary lateral sclerosis.
3472. Yunis-Varon syndrome.
PharmGKBi PA162388528.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5329.
GeneTreei ENSGT00550000074943.
HOGENOMi HOG000168063.
InParanoidi Q92562.
OMAi RDFMPKN.
OrthoDBi EOG73FQM1.
PhylomeDBi Q92562.
TreeFami TF105702.

Enzyme and pathway databases

BioCyci MetaCyc:HS12771-MONOMER.
Reactomei REACT_120756. Synthesis of PIPs at the early endosome membrane.
REACT_120836. Synthesis of PIPs at the Golgi membrane.
REACT_120918. Synthesis of PIPs at the late endosome membrane.
REACT_198970. Synthesis of PIPs at the Golgi membrane.
REACT_198972. Synthesis of PIPs at the late endosome membrane.
REACT_198975. Synthesis of PIPs at the early endosome membrane.

Miscellaneous databases

GeneWikii Fig4.
GenomeRNAii 9896.
NextBioi 37311.
PROi Q92562.
SOURCEi Search...

Gene expression databases

Bgeei Q92562.
CleanExi HS_FIG4.
ExpressionAtlasi Q92562. baseline and differential.
Genevestigatori Q92562.

Family and domain databases

InterProi IPR002013. Syja_N.
[Graphical view ]
Pfami PF02383. Syja_N. 1 hit.
[Graphical view ]
PROSITEi PS50275. SAC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."
    Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
    DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-654.
    Tissue: Colon.
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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].
    Tissue: Brain.
  5. "Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex."
    Sbrissa D., Ikonomov O.C., Fu Z., Ijuin T., Gruenberg J., Takenawa T., Shisheva A.
    J. Biol. Chem. 282:23878-23891(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE PI(3,5)P2 REGULATORY COMPLEX, MUTAGENESIS OF ASP-488.
  6. "ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality."
    Sbrissa D., Ikonomov O.C., Fenner H., Shisheva A.
    J. Mol. Biol. 384:766-779(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE PI(3,5)P2 REGULATORY COMPLEX.
  7. "Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J."
    Chow C.Y., Zhang Y., Dowling J.J., Jin N., Adamska M., Shiga K., Szigeti K., Shy M.E., Li J., Zhang X., Lupski J.R., Weisman L.S., Meisler M.H.
    Nature 448:68-72(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT4J THR-41.
  8. Cited for: VARIANT ALS11 TYR-53, VARIANTS GLY-48; GLY-388; VAL-411; CYS-647 AND THR-902.
  9. "Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J."
    Lenk G.M., Ferguson C.J., Chow C.Y., Jin N., Jones J.M., Grant A.E., Zolov S.N., Winters J.J., Giger R.J., Dowling J.J., Weisman L.S., Meisler M.H.
    PLoS Genet. 7:E1002104-E1002104(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT CMT4J THR-41.
  10. Cited for: VARIANTS YVS ASP-104 AND PRO-175, CHARACTERIZATION OF VARIANTS YVS ASP-104 AND PRO-175.

Entry informationi

Entry nameiFIG4_HUMAN
AccessioniPrimary (citable) accession number: Q92562
Secondary accession number(s): Q53H49, Q5TCS6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: October 29, 2014
This is version 117 of the entry and version 1 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 6
    Human chromosome 6: 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