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Protein

Aquaporin-2

Gene

AQP2

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

Functioni

Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.

GO - Molecular functioni

GO - Biological processi

  • cellular response to copper ion Source: UniProtKB
  • cellular response to mercury ion Source: UniProtKB
  • cellular response to water deprivation Source: Ensembl
  • cellular water homeostasis Source: GO_Central
  • excretion Source: ProtInc
  • glycerol transport Source: UniProtKB
  • ion transmembrane transport Source: GO_Central
  • metanephric collecting duct development Source: Ensembl
  • renal water homeostasis Source: Reactome
  • renal water transport Source: Ensembl
  • water transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiR-HSA-432040. Vasopressin regulates renal water homeostasis via Aquaporins.
R-HSA-432047. Passive transport by Aquaporins.

Protein family/group databases

TCDBi1.A.8.8.8. the major intrinsic protein (mip) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Aquaporin-2
Short name:
AQP-2
Alternative name(s):
ADH water channel
Aquaporin-CD
Short name:
AQP-CD
Collecting duct water channel protein
WCH-CD
Water channel protein for renal collecting duct
Gene namesi
Name:AQP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:634. AQP2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1616CytoplasmicSequence analysisAdd
BLAST
Transmembranei17 – 3418HelicalSequence analysisAdd
BLAST
Topological domaini35 – 406ExtracellularSequence analysis
Transmembranei41 – 5919HelicalSequence analysisAdd
BLAST
Topological domaini60 – 8526CytoplasmicSequence analysisAdd
BLAST
Transmembranei86 – 10722HelicalSequence analysisAdd
BLAST
Topological domaini108 – 12720ExtracellularSequence analysisAdd
BLAST
Transmembranei128 – 14821HelicalSequence analysisAdd
BLAST
Topological domaini149 – 1568CytoplasmicSequence analysis
Transmembranei157 – 17620HelicalSequence analysisAdd
BLAST
Topological domaini177 – 20226ExtracellularSequence analysisAdd
BLAST
Transmembranei203 – 22422HelicalSequence analysisAdd
BLAST
Topological domaini225 – 27147CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • basolateral plasma membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB-SubCell
  • integral component of plasma membrane Source: GO_Central
  • membrane Source: MGI
  • plasma membrane Source: UniProtKB
  • recycling endosome Source: Ensembl
  • transport vesicle membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Diabetes insipidus, nephrogenic, autosomal (ANDI)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive.
See also OMIM:125800
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221L → V in ANDI. 1 Publication
Corresponds to variant rs104894336 [ dbSNP | Ensembl ].
VAR_015239
Natural varianti28 – 281L → P in ANDI. 1 Publication
VAR_015240
Natural varianti47 – 471A → V in ANDI. 1 Publication
VAR_015241
Natural varianti57 – 571Q → P in ANDI. 1 Publication
Corresponds to variant rs28931580 [ dbSNP | Ensembl ].
VAR_015256
Natural varianti64 – 641G → R in ANDI. 1 Publication
Corresponds to variant rs104894326 [ dbSNP | Ensembl ].
VAR_004401
Natural varianti68 – 681N → S in ANDI. 1 Publication
Corresponds to variant rs104894331 [ dbSNP | Ensembl ].
VAR_015242
Natural varianti70 – 701A → D in ANDI. 1 Publication
VAR_062585
Natural varianti71 – 711V → M in ANDI. 1 Publication
VAR_015243
Natural varianti100 – 1001G → R in ANDI. 1 Publication
VAR_062586
Natural varianti100 – 1001G → V in ANDI. 1 Publication
Corresponds to variant rs28929477 [ dbSNP | Ensembl ].
VAR_015257
Natural varianti108 – 1081T → M in ANDI. 1 Publication
VAR_071370
Natural varianti125 – 1251T → M in ANDI. 3 Publications
Corresponds to variant rs104894333 [ dbSNP | Ensembl ].
VAR_015244
Natural varianti126 – 1261T → M in ANDI. 1 Publication
Corresponds to variant rs104894330 [ dbSNP | Ensembl ].
VAR_015245
Natural varianti147 – 1471A → T in ANDI. 1 Publication
Corresponds to variant rs104894334 [ dbSNP | Ensembl ].
VAR_015246
Natural varianti168 – 1681V → M in ANDI. 1 Publication
Corresponds to variant rs755694590 [ dbSNP | Ensembl ].
VAR_015247
Natural varianti175 – 1751G → R in ANDI. 3 Publications
Corresponds to variant rs104894335 [ dbSNP | Ensembl ].
VAR_015248
Natural varianti180 – 1801G → S in ANDI. 1 Publication
VAR_062587
Natural varianti181 – 1811C → W in ANDI. 1 Publication
Corresponds to variant rs104894337 [ dbSNP | Ensembl ].
VAR_015249
Natural varianti185 – 1851P → A in ANDI. 1 Publication
Corresponds to variant rs761713751 [ dbSNP | Ensembl ].
VAR_015250
Natural varianti187 – 1871R → C in ANDI; mutant protein does not fold properly and is not functional. 2 Publications
Corresponds to variant rs104894328 [ dbSNP | Ensembl ].
VAR_004402
Natural varianti187 – 1871R → H in ANDI. 1 Publication
Corresponds to variant rs193922495 [ dbSNP | Ensembl ].
VAR_062588
Natural varianti190 – 1901A → T in ANDI; mutant protein does not fold properly and is not functional. 2 Publications
Corresponds to variant rs104894341 [ dbSNP | Ensembl ].
VAR_015251
Natural varianti202 – 2021W → C in ANDI. 1 Publication
VAR_015253
Natural varianti216 – 2161S → P in ANDI. 2 Publications
Corresponds to variant rs104894329 [ dbSNP | Ensembl ].
VAR_004403
Natural varianti254 – 2541R → L in ANDI; results in the loss of arginine vasopressin-mediated phosphorylation at S-256. 1 Publication
VAR_062589
Natural varianti254 – 2541R → Q in ANDI; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus. 1 Publication
VAR_062590
Natural varianti258 – 2581E → K in ANDI; retained in the Golgi compartment. 2 Publications
Corresponds to variant rs104894332 [ dbSNP | Ensembl ].
VAR_015254
Natural varianti262 – 2621P → L in ANDI; mutant protein folds properly and is functional but is retained in intracellular vesicles and does not localize to the ER; upon coexpression with wild-type AQP2 mutant protein interacts with wild-type AQP2 and the resulting heterotetramer properly localizes to the apical membrane. 2 Publications
Corresponds to variant rs104894339 [ dbSNP | Ensembl ].
VAR_015255

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi148 – 1481S → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication
Mutagenesisi148 – 1481S → D: Retained in the endoplasmic reticulum. 1 Publication
Mutagenesisi229 – 2291S → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication
Mutagenesisi229 – 2291S → D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication
Mutagenesisi231 – 2311S → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication
Mutagenesisi231 – 2311S → D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication
Mutagenesisi244 – 2441T → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication
Mutagenesisi244 – 2441T → E: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication
Mutagenesisi256 – 2561S → A: Retained in vesicles. 1 Publication
Mutagenesisi256 – 2561S → D: Expressed in the apical membrane. 1 Publication

Keywords - Diseasei

Diabetes insipidus, Disease mutation

Organism-specific databases

MalaCardsiAQP2.
MIMi125800. phenotype.
Orphaneti223. Nephrogenic diabetes insipidus.
PharmGKBiPA24920.

Polymorphism and mutation databases

BioMutaiAQP2.
DMDMi728874.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 271271Aquaporin-2PRO_0000063934Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi123 – 1231N-linked (GlcNAc...)Sequence analysis
Modified residuei256 – 2561Phosphoserine; by PKA1 Publication

Post-translational modificationi

Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP41181.
PeptideAtlasiP41181.
PRIDEiP41181.

PTM databases

iPTMnetiP41181.
PhosphoSiteiP41181.

Expressioni

Tissue specificityi

Expressed in renal collecting tubules.

Gene expression databases

BgeeiENSG00000167580.
CleanExiHS_AQP2.
ExpressionAtlasiP41181. baseline and differential.
GenevisibleiP41181. HS.

Organism-specific databases

HPAiHPA046834.

Interactioni

Protein-protein interaction databases

BioGridi106855. 1 interaction.
STRINGi9606.ENSP00000199280.

Structurei

Secondary structure

1
271
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi7 – 3226Combined sources
Beta strandi35 – 373Combined sources
Helixi41 – 6323Combined sources
Helixi69 – 779Combined sources
Helixi83 – 10725Combined sources
Helixi110 – 1134Combined sources
Helixi127 – 14822Combined sources
Helixi159 – 17921Combined sources
Helixi185 – 19511Combined sources
Turni199 – 2024Combined sources
Helixi203 – 22119Combined sources
Helixi232 – 2376Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4NEFX-ray2.75A/B/C/D3-241[»]
4OJ2X-ray3.05X1-271[»]
ProteinModelPortaliP41181.
SMRiP41181. Positions 3-240.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi68 – 703NPA 1
Motifi184 – 1863NPA 2

Domaini

Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0223. Eukaryota.
COG0580. LUCA.
GeneTreeiENSGT00760000119223.
HOGENOMiHOG000288286.
HOVERGENiHBG000312.
InParanoidiP41181.
KOiK09865.
OMAiDHSPADY.
OrthoDBiEOG091G166T.
PhylomeDBiP41181.
TreeFamiTF312940.

Family and domain databases

CDDicd00333. MIP. 1 hit.
Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERiPTHR19139. PTHR19139. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PRINTSiPR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
TIGRFAMsiTIGR00861. MIP. 1 hit.
PROSITEiPS00221. MIP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P41181-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL
60 70 80 90 100
GIGTLVQALG HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG
110 120 130 140 150
AALLHEITPA DIRGDLAVNA LSNSTTAGQA VTVELFLTLQ LVLCIFASTD
160 170 180 190 200
ERRGENPGTP ALSIGFSVAL GHLLGIHYTG CSMNPARSLA PAVVTGKFDD
210 220 230 240 250
HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL EPDTDWEERE
260 270
VRRRQSVELH SPQSLPRGTK A
Length:271
Mass (Da):28,837
Last modified:February 1, 1995 - v1
Checksum:iC2DDE2AF4DDD192A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti35 – 384PQAL → ATAP (PubMed:7510718).Curated
Sequence conflicti83 – 831V → F (PubMed:7510718).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221L → V in ANDI. 1 Publication
Corresponds to variant rs104894336 [ dbSNP | Ensembl ].
VAR_015239
Natural varianti28 – 281L → P in ANDI. 1 Publication
VAR_015240
Natural varianti47 – 471A → V in ANDI. 1 Publication
VAR_015241
Natural varianti57 – 571Q → P in ANDI. 1 Publication
Corresponds to variant rs28931580 [ dbSNP | Ensembl ].
VAR_015256
Natural varianti64 – 641G → R in ANDI. 1 Publication
Corresponds to variant rs104894326 [ dbSNP | Ensembl ].
VAR_004401
Natural varianti68 – 681N → S in ANDI. 1 Publication
Corresponds to variant rs104894331 [ dbSNP | Ensembl ].
VAR_015242
Natural varianti70 – 701A → D in ANDI. 1 Publication
VAR_062585
Natural varianti71 – 711V → M in ANDI. 1 Publication
VAR_015243
Natural varianti100 – 1001G → R in ANDI. 1 Publication
VAR_062586
Natural varianti100 – 1001G → V in ANDI. 1 Publication
Corresponds to variant rs28929477 [ dbSNP | Ensembl ].
VAR_015257
Natural varianti108 – 1081T → M in ANDI. 1 Publication
VAR_071370
Natural varianti121 – 1211L → F.
Corresponds to variant rs11169226 [ dbSNP | Ensembl ].
VAR_037577
Natural varianti125 – 1251T → M in ANDI. 3 Publications
Corresponds to variant rs104894333 [ dbSNP | Ensembl ].
VAR_015244
Natural varianti126 – 1261T → M in ANDI. 1 Publication
Corresponds to variant rs104894330 [ dbSNP | Ensembl ].
VAR_015245
Natural varianti147 – 1471A → T in ANDI. 1 Publication
Corresponds to variant rs104894334 [ dbSNP | Ensembl ].
VAR_015246
Natural varianti168 – 1681V → M in ANDI. 1 Publication
Corresponds to variant rs755694590 [ dbSNP | Ensembl ].
VAR_015247
Natural varianti175 – 1751G → R in ANDI. 3 Publications
Corresponds to variant rs104894335 [ dbSNP | Ensembl ].
VAR_015248
Natural varianti180 – 1801G → S in ANDI. 1 Publication
VAR_062587
Natural varianti181 – 1811C → W in ANDI. 1 Publication
Corresponds to variant rs104894337 [ dbSNP | Ensembl ].
VAR_015249
Natural varianti185 – 1851P → A in ANDI. 1 Publication
Corresponds to variant rs761713751 [ dbSNP | Ensembl ].
VAR_015250
Natural varianti187 – 1871R → C in ANDI; mutant protein does not fold properly and is not functional. 2 Publications
Corresponds to variant rs104894328 [ dbSNP | Ensembl ].
VAR_004402
Natural varianti187 – 1871R → H in ANDI. 1 Publication
Corresponds to variant rs193922495 [ dbSNP | Ensembl ].
VAR_062588
Natural varianti190 – 1901A → T in ANDI; mutant protein does not fold properly and is not functional. 2 Publications
Corresponds to variant rs104894341 [ dbSNP | Ensembl ].
VAR_015251
Natural varianti194 – 1941V → I.1 Publication
Corresponds to variant rs772051028 [ dbSNP | Ensembl ].
VAR_015252
Natural varianti202 – 2021W → C in ANDI. 1 Publication
VAR_015253
Natural varianti216 – 2161S → P in ANDI. 2 Publications
Corresponds to variant rs104894329 [ dbSNP | Ensembl ].
VAR_004403
Natural varianti254 – 2541R → L in ANDI; results in the loss of arginine vasopressin-mediated phosphorylation at S-256. 1 Publication
VAR_062589
Natural varianti254 – 2541R → Q in ANDI; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus. 1 Publication
VAR_062590
Natural varianti258 – 2581E → K in ANDI; retained in the Golgi compartment. 2 Publications
Corresponds to variant rs104894332 [ dbSNP | Ensembl ].
VAR_015254
Natural varianti262 – 2621P → L in ANDI; mutant protein folds properly and is functional but is retained in intracellular vesicles and does not localize to the ER; upon coexpression with wild-type AQP2 mutant protein interacts with wild-type AQP2 and the resulting heterotetramer properly localizes to the apical membrane. 2 Publications
Corresponds to variant rs104894339 [ dbSNP | Ensembl ].
VAR_015255

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z29491 Genomic DNA. Translation: CAA82627.1.
D31846 Genomic DNA. Translation: BAA06632.1.
S73196 mRNA. Translation: AAB31999.1.
S73197 mRNA. Translation: AAB31998.1.
AF147093, AF147092 Genomic DNA. Translation: AAD38692.1.
BC042496 mRNA. Translation: AAH42496.1.
CCDSiCCDS8792.1.
PIRiA53442.
I64818.
RefSeqiNP_000477.1. NM_000486.5.
UniGeneiHs.130730.

Genome annotation databases

EnsembliENST00000199280; ENSP00000199280; ENSG00000167580.
GeneIDi359.
KEGGihsa:359.
UCSCiuc001rvn.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z29491 Genomic DNA. Translation: CAA82627.1.
D31846 Genomic DNA. Translation: BAA06632.1.
S73196 mRNA. Translation: AAB31999.1.
S73197 mRNA. Translation: AAB31998.1.
AF147093, AF147092 Genomic DNA. Translation: AAD38692.1.
BC042496 mRNA. Translation: AAH42496.1.
CCDSiCCDS8792.1.
PIRiA53442.
I64818.
RefSeqiNP_000477.1. NM_000486.5.
UniGeneiHs.130730.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4NEFX-ray2.75A/B/C/D3-241[»]
4OJ2X-ray3.05X1-271[»]
ProteinModelPortaliP41181.
SMRiP41181. Positions 3-240.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106855. 1 interaction.
STRINGi9606.ENSP00000199280.

Protein family/group databases

TCDBi1.A.8.8.8. the major intrinsic protein (mip) family.

PTM databases

iPTMnetiP41181.
PhosphoSiteiP41181.

Polymorphism and mutation databases

BioMutaiAQP2.
DMDMi728874.

Proteomic databases

PaxDbiP41181.
PeptideAtlasiP41181.
PRIDEiP41181.

Protocols and materials databases

DNASUi359.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000199280; ENSP00000199280; ENSG00000167580.
GeneIDi359.
KEGGihsa:359.
UCSCiuc001rvn.4. human.

Organism-specific databases

CTDi359.
GeneCardsiAQP2.
GeneReviewsiAQP2.
HGNCiHGNC:634. AQP2.
HPAiHPA046834.
MalaCardsiAQP2.
MIMi107777. gene.
125800. phenotype.
neXtProtiNX_P41181.
Orphaneti223. Nephrogenic diabetes insipidus.
PharmGKBiPA24920.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0223. Eukaryota.
COG0580. LUCA.
GeneTreeiENSGT00760000119223.
HOGENOMiHOG000288286.
HOVERGENiHBG000312.
InParanoidiP41181.
KOiK09865.
OMAiDHSPADY.
OrthoDBiEOG091G166T.
PhylomeDBiP41181.
TreeFamiTF312940.

Enzyme and pathway databases

ReactomeiR-HSA-432040. Vasopressin regulates renal water homeostasis via Aquaporins.
R-HSA-432047. Passive transport by Aquaporins.

Miscellaneous databases

GeneWikiiAquaporin_2.
GenomeRNAii359.
PROiP41181.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167580.
CleanExiHS_AQP2.
ExpressionAtlasiP41181. baseline and differential.
GenevisibleiP41181. HS.

Family and domain databases

CDDicd00333. MIP. 1 hit.
Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERiPTHR19139. PTHR19139. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PRINTSiPR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
TIGRFAMsiTIGR00861. MIP. 1 hit.
PROSITEiPS00221. MIP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAQP2_HUMAN
AccessioniPrimary (citable) accession number: P41181
Secondary accession number(s): Q9UD68
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: September 7, 2016
This is version 164 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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.