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Protein

Exostosin-2

Gene

EXT2

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

Functioni

Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).1 Publication

Catalytic activityi

UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan.
UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.

Cofactori

Mn2+By similarity

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei490SubstrateBy similarity1
Metal bindingi540Manganese; catalyticBy similarity1
Binding sitei569SubstrateBy similarity1
Active sitei628By similarity1

GO - Molecular functioni

  • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Source: UniProtKB-EC
  • glucuronosyltransferase activity Source: BHF-UCL
  • heparan sulfate N-acetylglucosaminyltransferase activity Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Source: BHF-UCL
  • protein heterodimerization activity Source: BHF-UCL
  • transferase activity, transferring glycosyl groups Source: BHF-UCL

GO - Biological processi

  • cell differentiation Source: Ensembl
  • cellular polysaccharide biosynthetic process Source: BHF-UCL
  • glycosaminoglycan biosynthetic process Source: BHF-UCL
  • heparan sulfate proteoglycan biosynthetic process Source: BHF-UCL
  • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: BHF-UCL
  • mesoderm formation Source: Ensembl
  • ossification Source: BHF-UCL
  • protein glycosylation Source: UniProtKB-UniPathway
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS07726-MONOMER.
ZFISH:HS07726-MONOMER.
BRENDAi2.4.1.224. 2681.
2.4.1.225. 2681.
ReactomeiR-HSA-2022928. HS-GAG biosynthesis.
SIGNORiQ93063.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT47. Glycosyltransferase Family 47.
GT64. Glycosyltransferase Family 64.

Names & Taxonomyi

Protein namesi
Recommended name:
Exostosin-2 (EC:2.4.1.224, EC:2.4.1.225)
Alternative name(s):
Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
Multiple exostoses protein 2
Putative tumor suppressor protein EXT2
Gene namesi
Name:EXT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:3513. EXT2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 25CytoplasmicSequence analysisAdd BLAST25
Transmembranei26 – 46Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini47 – 718LumenalSequence analysisAdd BLAST672

GO - Cellular componenti

  • endoplasmic reticulum Source: BHF-UCL
  • endoplasmic reticulum membrane Source: ProtInc
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: BHF-UCL
  • Golgi membrane Source: Reactome
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • UDP-N-acetylglucosamine transferase complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Hereditary multiple exostoses 2 (EXT2)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionEXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.
See also OMIM:133701
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01282385C → R in EXT2. 1 Publication1
Natural variantiVAR_07646987M → R in SSMS; decreased protein abundance; levels of the EXT2-interacting protein NDST1 are abolished in patient cells. 1 PublicationCorresponds to variant rs140075817dbSNPEnsembl.1
Natural variantiVAR_07647095R → C in SSMS; decreased protein abundance; levels of the EXT2-interacting protein NDST1 are abolished in patient cells. 1 PublicationCorresponds to variant rs376292686dbSNPEnsembl.1
Natural variantiVAR_012824152L → R in EXT2. 1 Publication1
Natural variantiVAR_012825179R → S in EXT2. 1 Publication1
Natural variantiVAR_012826202A → V in EXT2. 1 PublicationCorresponds to variant rs771803942dbSNPEnsembl.1
Natural variantiVAR_012827223R → P in EXT2. 1 PublicationCorresponds to variant rs764379119dbSNPEnsembl.1
Natural variantiVAR_002378227D → N in EXT2; no effect on oligomeric complex formation with EXT1. 4 PublicationsCorresponds to variant rs121918280dbSNPEnsembl.1
Natural variantiVAR_012828380I → T in EXT2. 1 Publication1
Potocki-Shaffer syndrome (POSHS)
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionA syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.
See also OMIM:601224
Seizures, scoliosis, and macrocephaly syndrome (SSMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.
See also OMIM:616682
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07646987M → R in SSMS; decreased protein abundance; levels of the EXT2-interacting protein NDST1 are abolished in patient cells. 1 PublicationCorresponds to variant rs140075817dbSNPEnsembl.1
Natural variantiVAR_07647095R → C in SSMS; decreased protein abundance; levels of the EXT2-interacting protein NDST1 are abolished in patient cells. 1 PublicationCorresponds to variant rs376292686dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Hereditary multiple exostoses, Mental retardation, Tumor suppressor

Organism-specific databases

DisGeNETi2132.
MalaCardsiEXT2.
MIMi133701. phenotype.
601224. phenotype.
616682. phenotype.
OpenTargetsiENSG00000151348.
Orphaneti321. Multiple osteochondromas.
52022. Potocki-Shaffer syndrome.
PharmGKBiPA27925.

Polymorphism and mutation databases

BioMutaiEXT2.
DMDMi3023739.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001496511 – 718Exostosin-2Add BLAST718

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi288N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi626 ↔ 676By similarity
Glycosylationi637N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ93063.
MaxQBiQ93063.
PaxDbiQ93063.
PeptideAtlasiQ93063.
PRIDEiQ93063.

PTM databases

iPTMnetiQ93063.
PhosphoSitePlusiQ93063.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000151348.
CleanExiHS_EXT2.
ExpressionAtlasiQ93063. baseline and differential.
GenevisibleiQ93063. HS.

Organism-specific databases

HPAiHPA051715.

Interactioni

Subunit structurei

Forms a homo/hetero-oligomeric complex with EXT1. Interacts with GALNT5. Interacts with NDST1.3 Publications

GO - Molecular functioni

  • protein heterodimerization activity Source: BHF-UCL

Protein-protein interaction databases

BioGridi108433. 31 interactors.
IntActiQ93063. 8 interactors.
MINTiMINT-120303.
STRINGi9606.ENSP00000379032.

Structurei

3D structure databases

ProteinModelPortaliQ93063.
SMRiQ93063.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni517 – 522Substrate bindingBy similarity6
Regioni538 – 540Substrate bindingBy similarity3
Regioni624 – 628Substrate bindingBy similarity5
Regioni662 – 673Substrate bindingBy similarityAdd BLAST12

Sequence similaritiesi

Belongs to the glycosyltransferase 47 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1021. Eukaryota.
ENOG410XTFH. LUCA.
GeneTreeiENSGT00550000074496.
HOGENOMiHOG000266990.
HOVERGENiHBG101211.
InParanoidiQ93063.
KOiK02367.
OMAiQFGYEVW.
OrthoDBiEOG091G02GW.
PhylomeDBiQ93063.
TreeFamiTF314231.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR004263. Exostosin.
IPR027673. Exostosin-2.
IPR015338. EXT_C.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR11062:SF93. PTHR11062:SF93. 2 hits.
PfamiPF03016. Exostosin. 1 hit.
PF09258. Glyco_transf_64. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q93063-1) [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
MCASVKYNIR GPALIPRMKT KHRIYYITLF SIVLLGLIAT GMFQFWPHSI
60 70 80 90 100
ESSNDWNVEK RSIRDVPVVR LPADSPIPER GDLSCRMHTC FDVYRCGFNP
110 120 130 140 150
KNKIKVYIYA LKKYVDDFGV SVSNTISREY NELLMAISDS DYYTDDINRA
160 170 180 190 200
CLFVPSIDVL NQNTLRIKET AQAMAQLSRW DRGTNHLLFN MLPGGPPDYN
210 220 230 240 250
TALDVPRDRA LLAGGGFSTW TYRQGYDVSI PVYSPLSAEV DLPEKGPGPR
260 270 280 290 300
QYFLLSSQVG LHPEYREDLE ALQVKHGESV LVLDKCTNLS EGVLSVRKRC
310 320 330 340 350
HKHQVFDYPQ VLQEATFCVV LRGARLGQAV LSDVLQAGCV PVVIADSYIL
360 370 380 390 400
PFSEVLDWKR ASVVVPEEKM SDVYSILQSI PQRQIEEMQR QARWFWEAYF
410 420 430 440 450
QSIKAIALAT LQIINDRIYP YAAISYEEWN DPPAVKWGSV SNPLFLPLIP
460 470 480 490 500
PQSQGFTAIV LTYDRVESLF RVITEVSKVP SLSKLLVVWN NQNKNPPEDS
510 520 530 540 550
LWPKIRVPLK VVRTAENKLS NRFFPYDEIE TEAVLAIDDD IIMLTSDELQ
560 570 580 590 600
FGYEVWREFP DRLVGYPGRL HLWDHEMNKW KYESEWTNEV SMVLTGAAFY
610 620 630 640 650
HKYFNYLYTY KMPGDIKNWV DAHMNCEDIA MNFLVANVTG KAVIKVTPRK
660 670 680 690 700
KFKCPECTAI DGLSLDQTHM VERSECINKF ASVFGTMPLK VVEHRADPVL
710
YKDDFPEKLK SFPNIGSL
Length:718
Mass (Da):82,255
Last modified:February 1, 1997 - v1
Checksum:i9048CD3A5B63C5CB
GO
Isoform 2 (identifier: Q93063-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     392-411: ARWFWEAYFQSIKAIALATL → LFMEPARRENWSAANHQMNSLIWPREQWDS

Show »
Length:728
Mass (Da):83,570
Checksum:i5CF31DFAB03E4023
GO
Isoform 3 (identifier: Q93063-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSCASGSGGGLRHPLRCQKPWDEECEEEAVCVIM

Note: No experimental confirmation available.
Show »
Length:751
Mass (Da):85,815
Checksum:iFB2DA6738A36F4B8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti322R → H in BX648142 (PubMed:14702039).Curated1
Sequence conflicti568G → D in AAB62718 (Ref. 4) Curated1
Isoform 2 (identifier: Q93063-2)
Sequence conflicti397A → V in AAB62718 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03392142M → V.Corresponds to variant rs4755779dbSNPEnsembl.1
Natural variantiVAR_01282385C → R in EXT2. 1 Publication1
Natural variantiVAR_07646987M → R in SSMS; decreased protein abundance; levels of the EXT2-interacting protein NDST1 are abolished in patient cells. 1 PublicationCorresponds to variant rs140075817dbSNPEnsembl.1
Natural variantiVAR_07647095R → C in SSMS; decreased protein abundance; levels of the EXT2-interacting protein NDST1 are abolished in patient cells. 1 PublicationCorresponds to variant rs376292686dbSNPEnsembl.1
Natural variantiVAR_012824152L → R in EXT2. 1 Publication1
Natural variantiVAR_012825179R → S in EXT2. 1 Publication1
Natural variantiVAR_012826202A → V in EXT2. 1 PublicationCorresponds to variant rs771803942dbSNPEnsembl.1
Natural variantiVAR_012827223R → P in EXT2. 1 PublicationCorresponds to variant rs764379119dbSNPEnsembl.1
Natural variantiVAR_002378227D → N in EXT2; no effect on oligomeric complex formation with EXT1. 4 PublicationsCorresponds to variant rs121918280dbSNPEnsembl.1
Natural variantiVAR_012828380I → T in EXT2. 1 Publication1
Natural variantiVAR_012829576E → K in osteochondroma. 1 PublicationCorresponds to variant rs373582542dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0460531M → MSCASGSGGGLRHPLRCQKP WDEECEEEAVCVIM in isoform 3. 1 Publication1
Alternative sequenceiVSP_001798392 – 411ARWFW…ALATL → LFMEPARRENWSAANHQMNS LIWPREQWDS in isoform 2. CuratedAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U62740 mRNA. Translation: AAB07008.1.
U64511 mRNA. Translation: AAC50764.1.
U67368
, U67356, U67357, U67358, U67360, U67361, U67362, U67363, U67364, U67365, U67366, U67367 Genomic DNA. Translation: AAC51219.1.
U72263 mRNA. Translation: AAB62718.1.
AK312375 mRNA. Translation: BAG35293.1.
BX648142 mRNA. No translation available.
AC068457 Genomic DNA. No translation available.
AC103854 Genomic DNA. No translation available.
AC134775 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68068.1.
CH471064 Genomic DNA. Translation: EAW68070.1.
CH471064 Genomic DNA. Translation: EAW68071.1.
BC010058 mRNA. Translation: AAH10058.1.
CCDSiCCDS53618.1. [Q93063-3]
CCDS53619.1. [Q93063-2]
CCDS7908.1. [Q93063-1]
RefSeqiNP_000392.3. NM_000401.3. [Q93063-3]
NP_001171554.1. NM_001178083.1. [Q93063-2]
NP_997005.1. NM_207122.1. [Q93063-1]
UniGeneiHs.368404.

Genome annotation databases

EnsembliENST00000343631; ENSP00000342656; ENSG00000151348. [Q93063-1]
ENST00000358681; ENSP00000351509; ENSG00000151348. [Q93063-2]
ENST00000395673; ENSP00000379032; ENSG00000151348. [Q93063-3]
ENST00000533608; ENSP00000431173; ENSG00000151348. [Q93063-1]
GeneIDi2132.
KEGGihsa:2132.
UCSCiuc001mxz.4. human. [Q93063-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U62740 mRNA. Translation: AAB07008.1.
U64511 mRNA. Translation: AAC50764.1.
U67368
, U67356, U67357, U67358, U67360, U67361, U67362, U67363, U67364, U67365, U67366, U67367 Genomic DNA. Translation: AAC51219.1.
U72263 mRNA. Translation: AAB62718.1.
AK312375 mRNA. Translation: BAG35293.1.
BX648142 mRNA. No translation available.
AC068457 Genomic DNA. No translation available.
AC103854 Genomic DNA. No translation available.
AC134775 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68068.1.
CH471064 Genomic DNA. Translation: EAW68070.1.
CH471064 Genomic DNA. Translation: EAW68071.1.
BC010058 mRNA. Translation: AAH10058.1.
CCDSiCCDS53618.1. [Q93063-3]
CCDS53619.1. [Q93063-2]
CCDS7908.1. [Q93063-1]
RefSeqiNP_000392.3. NM_000401.3. [Q93063-3]
NP_001171554.1. NM_001178083.1. [Q93063-2]
NP_997005.1. NM_207122.1. [Q93063-1]
UniGeneiHs.368404.

3D structure databases

ProteinModelPortaliQ93063.
SMRiQ93063.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108433. 31 interactors.
IntActiQ93063. 8 interactors.
MINTiMINT-120303.
STRINGi9606.ENSP00000379032.

Protein family/group databases

CAZyiGT47. Glycosyltransferase Family 47.
GT64. Glycosyltransferase Family 64.

PTM databases

iPTMnetiQ93063.
PhosphoSitePlusiQ93063.

Polymorphism and mutation databases

BioMutaiEXT2.
DMDMi3023739.

Proteomic databases

EPDiQ93063.
MaxQBiQ93063.
PaxDbiQ93063.
PeptideAtlasiQ93063.
PRIDEiQ93063.

Protocols and materials databases

DNASUi2132.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343631; ENSP00000342656; ENSG00000151348. [Q93063-1]
ENST00000358681; ENSP00000351509; ENSG00000151348. [Q93063-2]
ENST00000395673; ENSP00000379032; ENSG00000151348. [Q93063-3]
ENST00000533608; ENSP00000431173; ENSG00000151348. [Q93063-1]
GeneIDi2132.
KEGGihsa:2132.
UCSCiuc001mxz.4. human. [Q93063-1]

Organism-specific databases

CTDi2132.
DisGeNETi2132.
GeneCardsiEXT2.
GeneReviewsiEXT2.
HGNCiHGNC:3513. EXT2.
HPAiHPA051715.
MalaCardsiEXT2.
MIMi133701. phenotype.
601224. phenotype.
608210. gene.
616682. phenotype.
neXtProtiNX_Q93063.
OpenTargetsiENSG00000151348.
Orphaneti321. Multiple osteochondromas.
52022. Potocki-Shaffer syndrome.
PharmGKBiPA27925.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1021. Eukaryota.
ENOG410XTFH. LUCA.
GeneTreeiENSGT00550000074496.
HOGENOMiHOG000266990.
HOVERGENiHBG101211.
InParanoidiQ93063.
KOiK02367.
OMAiQFGYEVW.
OrthoDBiEOG091G02GW.
PhylomeDBiQ93063.
TreeFamiTF314231.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:HS07726-MONOMER.
ZFISH:HS07726-MONOMER.
BRENDAi2.4.1.224. 2681.
2.4.1.225. 2681.
ReactomeiR-HSA-2022928. HS-GAG biosynthesis.
SIGNORiQ93063.

Miscellaneous databases

ChiTaRSiEXT2. human.
GeneWikiiEXT2_(gene).
GenomeRNAii2132.
PROiQ93063.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151348.
CleanExiHS_EXT2.
ExpressionAtlasiQ93063. baseline and differential.
GenevisibleiQ93063. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR004263. Exostosin.
IPR027673. Exostosin-2.
IPR015338. EXT_C.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR11062:SF93. PTHR11062:SF93. 2 hits.
PfamiPF03016. Exostosin. 1 hit.
PF09258. Glyco_transf_64. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiEXT2_HUMAN
AccessioniPrimary (citable) accession number: Q93063
Secondary accession number(s): B2R5Z6
, C9JU51, J3KPT2, O15288
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 1, 1997
Last modified: November 30, 2016
This is version 168 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 11
    Human chromosome 11: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. 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.