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Protein

P2X purinoceptor 7

Gene

P2RX7

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

Functioni

Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells.

GO - Molecular functioni

  • ATP binding Source: BHF-UCL
  • extracellular ATP-gated cation channel activity Source: BHF-UCL
  • lipopolysaccharide binding Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL
  • purinergic nucleotide receptor activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000089041-MONOMER.
ReactomeiR-HSA-139853. Elevation of cytosolic Ca2+ levels.
R-HSA-418346. Platelet homeostasis.
R-HSA-844456. The NLRP3 inflammasome.
SignaLinkiQ99572.
SIGNORiQ99572.

Protein family/group databases

TCDBi1.A.7.1.3. the atp-gated p2x receptor cation channel (p2x receptor) family.

Names & Taxonomyi

Protein namesi
Recommended name:
P2X purinoceptor 7
Short name:
P2X7
Alternative name(s):
ATP receptor
P2Z receptor
Purinergic receptor
Gene namesi
Name:P2RX7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:8537. P2RX7.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 25CytoplasmicSequence analysisAdd BLAST25
Transmembranei26 – 46Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini47 – 334ExtracellularSequence analysisAdd BLAST288
Transmembranei335 – 355Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini356 – 595CytoplasmicSequence analysisAdd BLAST240

GO - Cellular componenti

  • bleb Source: BHF-UCL
  • cell-cell junction Source: Ensembl
  • cytoplasm Source: BHF-UCL
  • external side of plasma membrane Source: Ensembl
  • integral component of nuclear inner membrane Source: GO_Central
  • integral component of plasma membrane Source: BHF-UCL
  • membrane Source: BHF-UCL
  • neuromuscular junction Source: Ensembl
  • neuronal cell body Source: Ensembl
  • plasma membrane Source: UniProtKB
  • presynapse Source: GOC
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi187N → A: Alters cell surface expression. 1 Publication1

Organism-specific databases

DisGeNETi5027.
OpenTargetsiENSG00000089041.
PharmGKBiPA32866.

Chemistry databases

ChEMBLiCHEMBL4805.
GuidetoPHARMACOLOGYi484.

Polymorphism and mutation databases

BioMutaiP2RX7.
DMDMi395398617.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001615601 – 595P2X purinoceptor 7Add BLAST595

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi119 ↔ 168By similarity
Modified residuei125ADP-ribosylarginineBy similarity1
Disulfide bondi129 ↔ 152By similarity
Modified residuei133ADP-ribosylarginineBy similarity1
Disulfide bondi135 ↔ 162By similarity
Glycosylationi187N-linked (GlcNAc...)1 Publication1
Glycosylationi202N-linked (GlcNAc...)1 Publication1
Glycosylationi213N-linked (GlcNAc...)1 Publication1
Disulfide bondi216 ↔ 226By similarity
Glycosylationi241N-linked (GlcNAc...)1 Publication1
Disulfide bondi260 ↔ 269By similarity
Glycosylationi284N-linked (GlcNAc...)1 Publication1
Modified residuei343Phosphotyrosine1 Publication1
Modified residuei390PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation results in its inactivation.1 Publication
ADP-ribosylation at Arg-125 is necessary and sufficient to activate P2RX7 and gate the channel.By similarity
Palmitoylation of several cysteines in the C-terminal cytoplasmic tail is required for efficient localization to cell surface.1 Publication

Keywords - PTMi

ADP-ribosylation, Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

PaxDbiQ99572.
PeptideAtlasiQ99572.
PRIDEiQ99572.

PTM databases

iPTMnetiQ99572.
PhosphoSitePlusiQ99572.
SwissPalmiQ99572.

Expressioni

Tissue specificityi

Widely expressed with highest levels in brain and immune tissues.1 Publication

Gene expression databases

BgeeiENSG00000089041.
CleanExiHS_P2RX7.
ExpressionAtlasiQ99572. baseline and differential.
GenevisibleiQ99572. HS.

Organism-specific databases

HPAiHPA034968.
HPA042013.
HPA044141.

Interactioni

Subunit structurei

Functional P2XRs are organized as homomeric and heteromeric trimers. Interacts with LAMA3, ITGB2, ACTB, ACTN4, SVIL, MPP3, HSPA1, HSPCB, HSPA8, PIK230 and PTPRB. Interacts (via C-terminus) with EMP2 (PubMed:12107182).2 Publications

GO - Molecular functioni

  • protein homodimerization activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi111066. 5 interactors.
IntActiQ99572. 12 interactors.
MINTiMINT-3972963.
STRINGi9606.ENSP00000442349.

Chemistry databases

BindingDBiQ99572.

Structurei

3D structure databases

ProteinModelPortaliQ99572.
SMRiQ99572.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the P2X receptor family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IK4U. Eukaryota.
ENOG4110DDY. LUCA.
GeneTreeiENSGT00390000016028.
HOGENOMiHOG000232042.
HOVERGENiHBG053086.
InParanoidiQ99572.
KOiK05220.
OMAiLCPEYPT.
OrthoDBiEOG091G0A2U.
TreeFamiTF328633.

Family and domain databases

Gene3Di2.60.490.10. 1 hit.
InterProiIPR003050. P2X7_purnocptor.
IPR027309. P2X_extracellular_dom.
IPR001429. P2X_purnocptor.
[Graphical view]
PANTHERiPTHR10125. PTHR10125. 3 hits.
PTHR10125:SF13. PTHR10125:SF13. 3 hits.
PfamiPF00864. P2X_receptor. 1 hit.
[Graphical view]
PRINTSiPR01314. P2X7RECEPTOR.
PR01307. P2XRECEPTOR.
TIGRFAMsiTIGR00863. P2X. 1 hit.
PROSITEiPS01212. P2X_RECEPTOR. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform A (identifier: Q99572-1) [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
MPACCSCSDV FQYETNKVTR IQSMNYGTIK WFFHVIIFSY VCFALVSDKL
60 70 80 90 100
YQRKEPVISS VHTKVKGIAE VKEEIVENGV KKLVHSVFDT ADYTFPLQGN
110 120 130 140 150
SFFVMTNFLK TEGQEQRLCP EYPTRRTLCS SDRGCKKGWM DPQSKGIQTG
160 170 180 190 200
RCVVYEGNQK TCEVSAWCPI EAVEEAPRPA LLNSAENFTV LIKNNIDFPG
210 220 230 240 250
HNYTTRNILP GLNITCTFHK TQNPQCPIFR LGDIFRETGD NFSDVAIQGG
260 270 280 290 300
IMGIEIYWDC NLDRWFHHCR PKYSFRRLDD KTTNVSLYPG YNFRYAKYYK
310 320 330 340 350
ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI IQLVVYIGST LSYFGLAAVF
360 370 380 390 400
IDFLIDTYSS NCCRSHIYPW CKCCQPCVVN EYYYRKKCES IVEPKPTLKY
410 420 430 440 450
VSFVDESHIR MVNQQLLGRS LQDVKGQEVP RPAMDFTDLS RLPLALHDTP
460 470 480 490 500
PIPGQPEEIQ LLRKEATPRS RDSPVWCQCG SCLPSQLPES HRCLEELCCR
510 520 530 540 550
KKPGACITTS ELFRKLVLSR HVLQFLLLYQ EPLLALDVDS TNSRLRHCAY
560 570 580 590
RCYATWRFGS QDMADFAILP SCCRWRIRKE FPKSEGQYSG FKSPY
Length:595
Mass (Da):68,585
Last modified:July 11, 2012 - v4
Checksum:i584C17EF6D5EC899
GO
Isoform B (identifier: Q99572-2) [UniParc]FASTAAdd to basket
Also known as: Delta-C, cytoplasmic tail deleted

The sequence of this isoform differs from the canonical sequence as follows:
     347-364: AAVFIDFLIDTYSSNCCR → VRDSLFHALGKWFGEGSD
     365-595: Missing.

Note: Predominant form in many tissues.
Show »
Length:364
Mass (Da):41,792
Checksum:i3A9C0F1D110543FC
GO
Isoform C (identifier: Q99572-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     122-128: YPTRRTL → EFRPEGV
     129-595: Missing.

Show »
Length:128
Mass (Da):14,749
Checksum:iDBBA1D99D97E108E
GO
Isoform D (identifier: Q99572-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-7: MPACCSC → MDGPAEQ
     8-177: Missing.

Show »
Length:425
Mass (Da):49,165
Checksum:i9245A1363145ABD7
GO
Isoform E (identifier: Q99572-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-294: Missing.
     347-364: AAVFIDFLIDTYSSNCCR → VRDSLFHALGKWFGEGSD
     365-595: Missing.

Show »
Length:275
Mass (Da):31,294
Checksum:i6AE04D318BEB617C
GO
Isoform F (identifier: Q99572-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MPA → MWQ
     4-292: Missing.

Show »
Length:306
Mass (Da):35,544
Checksum:i28004164298DC12A
GO
Isoform G (identifier: Q99572-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MPACCSCSDV...DTADYTFPLQ → MTPGDHSW
     347-364: AAVFIDFLIDTYSSNCCR → VRDSLFHALGKWFGEGSD
     365-595: Missing.

Show »
Length:274
Mass (Da):31,446
Checksum:i48E9BBD37BFEFDA1
GO
Isoform H (identifier: Q99572-8) [UniParc]FASTAAdd to basket
Also known as: Delta-TM1

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MPACCSCSDV...DTADYTFPLQ → MTPGDHSW

Note: Non-functional channel.
Show »
Length:505
Mass (Da):58,239
Checksum:iD65D70EADCE5702A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti481S → R in CAA73360 (PubMed:9826911).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03644425N → S in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_05766576V → A.Corresponds to variant rs17525809dbSNPEnsembl.1
Natural variantiVAR_057666150G → R.Corresponds to variant rs28360447dbSNPEnsembl.1
Natural variantiVAR_019649155Y → H.4 PublicationsCorresponds to variant rs208294dbSNPEnsembl.1
Natural variantiVAR_057667270R → C.Corresponds to variant rs16950860dbSNPEnsembl.1
Natural variantiVAR_019648270R → H.3 PublicationsCorresponds to variant rs7958311dbSNPEnsembl.1
Natural variantiVAR_057668276R → H.Corresponds to variant rs7958316dbSNPEnsembl.1
Natural variantiVAR_057669307R → Q Polymorphism; results in a loss of function. 1 PublicationCorresponds to variant rs28360457dbSNPEnsembl.1
Natural variantiVAR_057670348A → T.1 PublicationCorresponds to variant rs1718119dbSNPEnsembl.1
Natural variantiVAR_019650357T → S.1 PublicationCorresponds to variant rs2230911dbSNPEnsembl.1
Natural variantiVAR_057671430P → R.Corresponds to variant rs10160951dbSNPEnsembl.1
Natural variantiVAR_057672433A → V.Corresponds to variant rs28360459dbSNPEnsembl.1
Natural variantiVAR_019651460Q → R.Corresponds to variant rs2230912dbSNPEnsembl.1
Natural variantiVAR_019652496E → A Polymorphism; results in a loss of function. 2 PublicationsCorresponds to variant rs3751143dbSNPEnsembl.1
Natural variantiVAR_057673521H → Q.Corresponds to variant rs2230913dbSNPEnsembl.1
Natural variantiVAR_057674522V → I.Corresponds to variant rs34219304dbSNPEnsembl.1
Natural variantiVAR_068011568I → N Polymorphism; results in trafficking defect and around 50% loss of function. 2 PublicationsCorresponds to variant rs1653624dbSNPEnsembl.1
Natural variantiVAR_036445574R → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_057675578R → Q.Corresponds to variant rs28360460dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0477761 – 98MPACC…TFPLQ → MTPGDHSW in isoform G and isoform H. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_0477771 – 7MPACCSC → MDGPAEQ in isoform D. 2 Publications7
Alternative sequenceiVSP_0477781 – 3MPA → MWQ in isoform F. 1 Publication3
Alternative sequenceiVSP_0477794 – 292Missing in isoform F. 1 PublicationAdd BLAST289
Alternative sequenceiVSP_0477808 – 177Missing in isoform D. 2 PublicationsAdd BLAST170
Alternative sequenceiVSP_047781122 – 128YPTRRTL → EFRPEGV in isoform C. 2 Publications7
Alternative sequenceiVSP_047782129 – 595Missing in isoform C. 2 PublicationsAdd BLAST467
Alternative sequenceiVSP_047783206 – 294Missing in isoform E. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_047784347 – 364AAVFI…SNCCR → VRDSLFHALGKWFGEGSD in isoform B, isoform E and isoform G. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_047785365 – 595Missing in isoform B, isoform E and isoform G. 1 PublicationAdd BLAST231

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y09561 mRNA. Translation: CAA70755.1.
Y12851
, Y12852, Y12853, Y12854, Y12855 Genomic DNA. Translation: CAA73360.1.
AY847298 mRNA. Translation: AAX82087.1.
AY847299 mRNA. Translation: AAX82088.1.
AY847300 mRNA. Translation: AAX82089.1.
AY847301 mRNA. Translation: AAX82090.1.
AY847302 mRNA. Translation: AAX82091.1.
AY847303 mRNA. Translation: AAX82092.1.
AY847304 mRNA. Translation: AAX82093.1.
AK290405 mRNA. Translation: BAF83094.1.
AK294126 mRNA. Translation: BAH11678.1.
AC069209 Genomic DNA. No translation available.
AC079602 Genomic DNA. No translation available.
Z98941 Genomic DNA. No translation available.
BC007679 mRNA. Translation: AAH07679.1.
BC011913 mRNA. Translation: AAH11913.1.
CCDSiCCDS9213.1. [Q99572-1]
RefSeqiNP_002553.3. NM_002562.5. [Q99572-1]
XP_011536722.1. XM_011538420.2. [Q99572-6]
UniGeneiHs.729169.

Genome annotation databases

EnsembliENST00000328963; ENSP00000330696; ENSG00000089041. [Q99572-1]
ENST00000535250; ENSP00000442572; ENSG00000089041. [Q99572-2]
ENST00000535600; ENSP00000442470; ENSG00000089041. [Q99572-5]
ENST00000541022; ENSP00000441230; ENSG00000089041. [Q99572-3]
ENST00000541716; ENSP00000437729; ENSG00000089041. [Q99572-3]
GeneIDi5027.
KEGGihsa:5027.
UCSCiuc001tzm.4. human. [Q99572-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Wikipedia

P2X receptor entry

Wikipedia

P2RX7 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y09561 mRNA. Translation: CAA70755.1.
Y12851
, Y12852, Y12853, Y12854, Y12855 Genomic DNA. Translation: CAA73360.1.
AY847298 mRNA. Translation: AAX82087.1.
AY847299 mRNA. Translation: AAX82088.1.
AY847300 mRNA. Translation: AAX82089.1.
AY847301 mRNA. Translation: AAX82090.1.
AY847302 mRNA. Translation: AAX82091.1.
AY847303 mRNA. Translation: AAX82092.1.
AY847304 mRNA. Translation: AAX82093.1.
AK290405 mRNA. Translation: BAF83094.1.
AK294126 mRNA. Translation: BAH11678.1.
AC069209 Genomic DNA. No translation available.
AC079602 Genomic DNA. No translation available.
Z98941 Genomic DNA. No translation available.
BC007679 mRNA. Translation: AAH07679.1.
BC011913 mRNA. Translation: AAH11913.1.
CCDSiCCDS9213.1. [Q99572-1]
RefSeqiNP_002553.3. NM_002562.5. [Q99572-1]
XP_011536722.1. XM_011538420.2. [Q99572-6]
UniGeneiHs.729169.

3D structure databases

ProteinModelPortaliQ99572.
SMRiQ99572.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111066. 5 interactors.
IntActiQ99572. 12 interactors.
MINTiMINT-3972963.
STRINGi9606.ENSP00000442349.

Chemistry databases

BindingDBiQ99572.
ChEMBLiCHEMBL4805.
GuidetoPHARMACOLOGYi484.

Protein family/group databases

TCDBi1.A.7.1.3. the atp-gated p2x receptor cation channel (p2x receptor) family.

PTM databases

iPTMnetiQ99572.
PhosphoSitePlusiQ99572.
SwissPalmiQ99572.

Polymorphism and mutation databases

BioMutaiP2RX7.
DMDMi395398617.

Proteomic databases

PaxDbiQ99572.
PeptideAtlasiQ99572.
PRIDEiQ99572.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328963; ENSP00000330696; ENSG00000089041. [Q99572-1]
ENST00000535250; ENSP00000442572; ENSG00000089041. [Q99572-2]
ENST00000535600; ENSP00000442470; ENSG00000089041. [Q99572-5]
ENST00000541022; ENSP00000441230; ENSG00000089041. [Q99572-3]
ENST00000541716; ENSP00000437729; ENSG00000089041. [Q99572-3]
GeneIDi5027.
KEGGihsa:5027.
UCSCiuc001tzm.4. human. [Q99572-1]

Organism-specific databases

CTDi5027.
DisGeNETi5027.
GeneCardsiP2RX7.
HGNCiHGNC:8537. P2RX7.
HPAiHPA034968.
HPA042013.
HPA044141.
MIMi602566. gene.
neXtProtiNX_Q99572.
OpenTargetsiENSG00000089041.
PharmGKBiPA32866.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK4U. Eukaryota.
ENOG4110DDY. LUCA.
GeneTreeiENSGT00390000016028.
HOGENOMiHOG000232042.
HOVERGENiHBG053086.
InParanoidiQ99572.
KOiK05220.
OMAiLCPEYPT.
OrthoDBiEOG091G0A2U.
TreeFamiTF328633.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000089041-MONOMER.
ReactomeiR-HSA-139853. Elevation of cytosolic Ca2+ levels.
R-HSA-418346. Platelet homeostasis.
R-HSA-844456. The NLRP3 inflammasome.
SignaLinkiQ99572.
SIGNORiQ99572.

Miscellaneous databases

ChiTaRSiP2RX7. human.
GeneWikiiP2RX7.
GenomeRNAii5027.
PROiQ99572.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000089041.
CleanExiHS_P2RX7.
ExpressionAtlasiQ99572. baseline and differential.
GenevisibleiQ99572. HS.

Family and domain databases

Gene3Di2.60.490.10. 1 hit.
InterProiIPR003050. P2X7_purnocptor.
IPR027309. P2X_extracellular_dom.
IPR001429. P2X_purnocptor.
[Graphical view]
PANTHERiPTHR10125. PTHR10125. 3 hits.
PTHR10125:SF13. PTHR10125:SF13. 3 hits.
PfamiPF00864. P2X_receptor. 1 hit.
[Graphical view]
PRINTSiPR01314. P2X7RECEPTOR.
PR01307. P2XRECEPTOR.
TIGRFAMsiTIGR00863. P2X. 1 hit.
PROSITEiPS01212. P2X_RECEPTOR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiP2RX7_HUMAN
AccessioniPrimary (citable) accession number: Q99572
Secondary accession number(s): A8K2Z0
, E7EMK6, F5H6P2, F5H7E8, F8W951, O14991, Q4VKH8, Q4VKH9, Q4VKI0, Q4VKI1, Q4VKI2, Q4VKI3, Q4VKI4, Q7Z771, Q96EV7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 11, 2012
Last modified: November 30, 2016
This is version 164 of the entry and version 4 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 12
    Human chromosome 12: 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.