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Protein

Nucleoporin GLE1

Gene

GLE1

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

Functioni

Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC).3 Publications

GO - Molecular functioni

  1. identical protein binding Source: IntAct

GO - Biological processi

  1. mRNA export from nucleus Source: ProtInc
  2. poly(A)+ mRNA export from nucleus Source: InterPro
  3. protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

mRNA transport, Protein transport, Translocation, Transport

Protein family/group databases

TCDBi3.A.18.1.1. the nuclear mrna exporter (mrna-e) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Nucleoporin GLE1
Short name:
hGLE1
Alternative name(s):
GLE1-like protein
Gene namesi
Name:GLE1
Synonyms:GLE1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:4315. GLE1.

Subcellular locationi

Nucleus 1 Publication. Cytoplasm 1 Publication
Note: Shuttles between the nucleus and the cytoplasm. Shuttling is essential for its mRNA export function.
Isoform 1 : Cytoplasm. Nucleusnuclear pore complex
Note: Shuttles between the nucleus and the cytoplasm. In the nucleus, isoform 1 localizes to the nuclear pore complex and nuclear envelope. Shuttling is essential for its mRNA export function.

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. extracellular space Source: UniProtKB
  3. membrane Source: UniProtKB
  4. nuclear pore Source: ProtInc
  5. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nuclear pore complex, Nucleus

Pathology & Biotechi

Involvement in diseasei

Lethal congenital contracture syndrome 1 (LCCS1)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death.

See also OMIM:253310
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti144 – 1441T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication
VAR_043874
Natural varianti569 – 5691R → H in LCCS1. 1 Publication
VAR_043875
Lethal arthrogryposis with anterior horn cell disease (LAAHD)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe.

See also OMIM:611890
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti617 – 6171V → M in LAAHD. 1 Publication
VAR_043876
Natural varianti684 – 6841I → T in LAAHD. 1 Publication
VAR_043877

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi253310. phenotype.
611890. phenotype.
Orphaneti53696. Lethal arthrogryposis - anterior horn cell disease.
1486. Lethal congenital contracture syndrome type 1.
PharmGKBiPA28718.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 698698Nucleoporin GLE1PRO_0000204822Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei88 – 881Phosphoserine2 Publications
Modified residuei99 – 991Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ53GS7.
PaxDbiQ53GS7.
PRIDEiQ53GS7.

PTM databases

PhosphoSiteiQ53GS7.

Expressioni

Gene expression databases

BgeeiQ53GS7.
CleanExiHS_GLE1.
ExpressionAtlasiQ53GS7. baseline and differential.
GenevestigatoriQ53GS7.

Organism-specific databases

HPAiHPA041689.
HPA043538.

Interactioni

Subunit structurei

Associated with the NPC, it however may not be a stable component of the NPC complex since it shuttles between the nucleus and the cytoplasm. Interacts with nuclear pore complex proteins NUP155 and NUPL2. Isoform 2 does not interact with NUPL2. Able to form a heterotrimer with NUP155 and NUPL2 in vitro.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself5EBI-1955541,EBI-1955541
EIF3FO003032EBI-1955541,EBI-711990

Protein-protein interaction databases

BioGridi108995. 11 interactions.
IntActiQ53GS7. 4 interactions.
MINTiMINT-4535009.
STRINGi9606.ENSP00000308622.

Structurei

3D structure databases

ProteinModelPortaliQ53GS7.
SMRiQ53GS7. Positions 480-656.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 2929Interaction with NUP155Add
BLAST
Regioni444 – 48340Mediates the shuttling between the nucleus and the cytoplasmAdd
BLAST
Regioni656 – 69843Interaction with NUPL2Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili151 – 277127Sequence AnalysisAdd
BLAST
Coiled coili305 – 35652Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the GLE1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG330485.
GeneTreeiENSGT00390000012903.
HOGENOMiHOG000246966.
HOVERGENiHBG081558.
InParanoidiQ53GS7.
KOiK18723.
OMAiSQHTESM.
OrthoDBiEOG7FFMRB.
PhylomeDBiQ53GS7.
TreeFamiTF324158.

Family and domain databases

InterProiIPR012476. GLE1.
[Graphical view]
PANTHERiPTHR12960. PTHR12960. 1 hit.
PfamiPF07817. GLE1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q53GS7-1) [UniParc]FASTAAdd to basket

Also known as: hGle1B

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
MPSEGRCWET LKALRSSDKG RLCYYRDWLL RREDVLEECM SLPKLSSYSG
60 70 80 90 100
WVVEHVLPHM QENQPLSETS PSSTSASALD QPSFVPKSPD ASSAFSPASP
110 120 130 140 150
ATPNGTKGKD ESQHTESMVL QSSRGIKVEG CVRMYELVHR MKGTEGLRLW
160 170 180 190 200
QEEQERKVQA LSEMASEQLK RFDEWKELKQ HKEFQDLREV MEKSSREALG
210 220 230 240 250
HQEKLKAEHR HRAKILNLKL REAEQQRVKQ AEQERLRKEE GQIRLRALYA
260 270 280 290 300
LQEEMLQLSQ QLDASEQHKA LLKVDLAAFQ TRGNQLCSLI SGIIRASSES
310 320 330 340 350
SYPTAESQAE AERALREMRD LLMNLGQEIT RACEDKRRQD EEEAQVKLQE
360 370 380 390 400
AQMQQGPEAH KEPPAPSQGP GGKQNEDLQV KVQDITMQWY QQLQDASMQC
410 420 430 440 450
VLTFEGLTNS KDSQAKKIKM DLQKAATIPV SQISTIAGSK LKEIFDKIHS
460 470 480 490 500
LLSGKPVQSG GRSVSVTLNP QGLDFVQYKL AEKFVKQGEE EVASHHEAAF
510 520 530 540 550
PIAVVASGIW ELHPRVGDLI LAHLHKKCPY SVPFYPTFKE GMALEDYQRM
560 570 580 590 600
LGYQVKDSKV EQQDNFLKRM SGMIRLYAAI IQLRWPYGNR QEIHPHGLNH
610 620 630 640 650
GWRWLAQILN MEPLSDVTAT LLFDFLEVCG NALMKQYQVQ FWKMLILIKE
660 670 680 690
DYFPRIEAIT SSGQMGSFIR LKQFLEKCLQ HKDIPVPKGF LTSSFWRS

Note: Major isoform.

Length:698
Mass (Da):79,836
Last modified:December 6, 2005 - v2
Checksum:iF9FC04683BCCDBB2
GO
Isoform 2 (identifier: Q53GS7-2) [UniParc]FASTAAdd to basket

Also known as: hGle1A

The sequence of this isoform differs from the canonical sequence as follows:
     656-659: IEAI → YQAC
     660-698: Missing.

Show »
Length:659
Mass (Da):75,407
Checksum:iC97A3FFE7E7581B5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti83 – 831S → P in BAD96574 (Ref. 2) Curated
Sequence conflicti172 – 1721F → S in BAD96562 (Ref. 2) Curated
Sequence conflicti549 – 5491R → G in BAD96562 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti130 – 1301G → D.1 Publication
Corresponds to variant rs17852725 [ dbSNP | Ensembl ].
VAR_024056
Natural varianti144 – 1441T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication
VAR_043874
Natural varianti243 – 2431I → V.
Corresponds to variant rs2275260 [ dbSNP | Ensembl ].
VAR_024057
Natural varianti569 – 5691R → H in LCCS1. 1 Publication
VAR_043875
Natural varianti590 – 5901R → Q.1 Publication
Corresponds to variant rs17856852 [ dbSNP | Ensembl ].
VAR_024058
Natural varianti617 – 6171V → M in LAAHD. 1 Publication
VAR_043876
Natural varianti684 – 6841I → T in LAAHD. 1 Publication
VAR_043877

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei656 – 6594IEAI → YQAC in isoform 2. 2 PublicationsVSP_016486
Alternative sequencei660 – 69839Missing in isoform 2. 2 PublicationsVSP_016487Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF058922 mRNA. Translation: AAC25561.1.
AK222842 mRNA. Translation: BAD96562.1.
AK222854 mRNA. Translation: BAD96574.1.
AL445287, AL356481 Genomic DNA. Translation: CAH71064.1.
AL445287, AL356481 Genomic DNA. Translation: CAH71065.1.
AL356481, AL445287 Genomic DNA. Translation: CAH71402.1.
AL356481, AL445287 Genomic DNA. Translation: CAH71403.1.
BC030012 mRNA. Translation: AAH30012.1.
AL117584 mRNA. Translation: CAB56006.1.
CCDSiCCDS35154.1. [Q53GS7-1]
CCDS6904.1. [Q53GS7-2]
PIRiT17316.
RefSeqiNP_001003722.1. NM_001003722.1. [Q53GS7-1]
NP_001490.1. NM_001499.2. [Q53GS7-2]
UniGeneiHs.522418.

Genome annotation databases

EnsembliENST00000309971; ENSP00000308622; ENSG00000119392. [Q53GS7-1]
ENST00000372770; ENSP00000361856; ENSG00000119392. [Q53GS7-2]
GeneIDi2733.
KEGGihsa:2733.
UCSCiuc004bvi.3. human. [Q53GS7-2]
uc004bvj.3. human. [Q53GS7-1]

Polymorphism databases

DMDMi83288218.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF058922 mRNA. Translation: AAC25561.1.
AK222842 mRNA. Translation: BAD96562.1.
AK222854 mRNA. Translation: BAD96574.1.
AL445287, AL356481 Genomic DNA. Translation: CAH71064.1.
AL445287, AL356481 Genomic DNA. Translation: CAH71065.1.
AL356481, AL445287 Genomic DNA. Translation: CAH71402.1.
AL356481, AL445287 Genomic DNA. Translation: CAH71403.1.
BC030012 mRNA. Translation: AAH30012.1.
AL117584 mRNA. Translation: CAB56006.1.
CCDSiCCDS35154.1. [Q53GS7-1]
CCDS6904.1. [Q53GS7-2]
PIRiT17316.
RefSeqiNP_001003722.1. NM_001003722.1. [Q53GS7-1]
NP_001490.1. NM_001499.2. [Q53GS7-2]
UniGeneiHs.522418.

3D structure databases

ProteinModelPortaliQ53GS7.
SMRiQ53GS7. Positions 480-656.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108995. 11 interactions.
IntActiQ53GS7. 4 interactions.
MINTiMINT-4535009.
STRINGi9606.ENSP00000308622.

Protein family/group databases

TCDBi3.A.18.1.1. the nuclear mrna exporter (mrna-e) family.

PTM databases

PhosphoSiteiQ53GS7.

Polymorphism databases

DMDMi83288218.

Proteomic databases

MaxQBiQ53GS7.
PaxDbiQ53GS7.
PRIDEiQ53GS7.

Protocols and materials databases

DNASUi2733.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000309971; ENSP00000308622; ENSG00000119392. [Q53GS7-1]
ENST00000372770; ENSP00000361856; ENSG00000119392. [Q53GS7-2]
GeneIDi2733.
KEGGihsa:2733.
UCSCiuc004bvi.3. human. [Q53GS7-2]
uc004bvj.3. human. [Q53GS7-1]

Organism-specific databases

CTDi2733.
GeneCardsiGC09P131266.
HGNCiHGNC:4315. GLE1.
HPAiHPA041689.
HPA043538.
MIMi253310. phenotype.
603371. gene.
611890. phenotype.
neXtProtiNX_Q53GS7.
Orphaneti53696. Lethal arthrogryposis - anterior horn cell disease.
1486. Lethal congenital contracture syndrome type 1.
PharmGKBiPA28718.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG330485.
GeneTreeiENSGT00390000012903.
HOGENOMiHOG000246966.
HOVERGENiHBG081558.
InParanoidiQ53GS7.
KOiK18723.
OMAiSQHTESM.
OrthoDBiEOG7FFMRB.
PhylomeDBiQ53GS7.
TreeFamiTF324158.

Miscellaneous databases

ChiTaRSiGLE1. human.
GeneWikiiGLE1L.
GenomeRNAii2733.
NextBioi10770.
PROiQ53GS7.
SOURCEiSearch...

Gene expression databases

BgeeiQ53GS7.
CleanExiHS_GLE1.
ExpressionAtlasiQ53GS7. baseline and differential.
GenevestigatoriQ53GS7.

Family and domain databases

InterProiIPR012476. GLE1.
[Graphical view]
PANTHERiPTHR12960. PTHR12960. 1 hit.
PfamiPF07817. GLE1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export."
    Watkins J.L., Murphy R., Emtage J.L.T., Wente S.R.
    Proc. Natl. Acad. Sci. U.S.A. 95:6779-6784(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION.
    Tissue: Brain.
  2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Liver.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ASP-130 AND GLN-590.
    Tissue: Testis.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 136-698 (ISOFORM 1).
  6. "An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export."
    Kendirgi F., Barry D.M., Griffis E.R., Powers M.A., Wente S.R.
    J. Cell Biol. 160:1029-1040(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR LOCATION.
  7. "The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155."
    Rayala H.J., Kendirgi F., Barry D.M., Majerus P.W., Wente S.R.
    Mol. Cell. Proteomics 3:145-155(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NUP155.
  8. "Interaction between the shuttling mRNA export factor Gle1 and the nucleoporin hCG1: a conserved mechanism in the export of Hsp70 mRNA."
    Kendirgi F., Rexer D.J., Alcazar-Roman A.R., Onishko H.M., Wente S.R.
    Mol. Biol. Cell 16:4304-4315(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH NUPL2 AND NUP155.
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-88, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-88 AND SER-99, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: VARIANTS LCCS1 PRO-PHE-GLN-144 INS AND HIS-569, VARIANTS LAAHD MET-617 AND THR-684, CHARACTERIZATION OF VARIANT LCCS1 PRO-PHE-GLN-144 INS.

Entry informationi

Entry nameiGLE1_HUMAN
AccessioniPrimary (citable) accession number: Q53GS7
Secondary accession number(s): O75458
, Q53GT9, Q5VVU1, Q8NCP6, Q9UFL6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: March 4, 2015
This is version 100 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 9
    Human chromosome 9: 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

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 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.