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Protein

Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1

Gene

INPP5D

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

Functioni

Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Acts as a negative regulator of B-cell antigen receptor signaling. Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Acts as a negative regulator of myeloid cell proliferation/survival and chemotaxis, mast cell degranulation, immune cells homeostasis, integrin alpha-IIb/beta-3 signaling in platelets and JNK signaling in B-cells. Regulates proliferation of osteoclast precursors, macrophage programming, phagocytosis and activation and is required for endotoxin tolerance. Involved in the control of cell-cell junctions, CD32a signaling in neutrophils and modulation of EGF-induced phospholipase C activity. Key regulator of neutrophil migration, by governing the formation of the leading edge and polarization required for chemotaxis. Modulates FCGR3/CD16-mediated cytotoxicity in NK cells. Mediates the activin/TGF-beta-induced apoptosis through its Smad-dependent expression. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6.2 Publications

Catalytic activityi

1-phosphatidyl-1D-myo-inositol 3,4,5-triphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 3,4-diphosphate + phosphate.2 Publications

Activity regulationi

Activated upon translocation to the sites of synthesis of PtdIns(3,4,5)P3 in the membrane.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processApoptosis, Immunity

Enzyme and pathway databases

BioCyciMetaCyc:HS09849-MONOMER
BRENDAi3.1.3.86 2681
ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-202424 Downstream TCR signaling
R-HSA-210990 PECAM1 interactions
R-HSA-912526 Interleukin receptor SHC signaling
SignaLinkiQ92835
SIGNORiQ92835

Chemistry databases

SwissLipidsiSLP:000000951

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 (EC:3.1.3.86)
Alternative name(s):
Inositol polyphosphate-5-phosphatase of 145 kDa
Short name:
SIP-145
SH2 domain-containing inositol 5'-phosphatase 1
Short name:
SH2 domain-containing inositol phosphatase 1
Short name:
SHIP-1
p150Ship
Short name:
hp51CN
Gene namesi
Name:INPP5D
Synonyms:SHIP, SHIP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000168918.13
HGNCiHGNC:6079 INPP5D
MIMi601582 gene
neXtProtiNX_Q92835

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi3635
OpenTargetsiENSG00000168918
PharmGKBiPA29887

Chemistry databases

ChEMBLiCHEMBL1781870

Polymorphism and mutation databases

BioMutaiINPP5D
DMDMi158564077

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003028661 – 1189Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1Add BLAST1189

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei243PhosphoserineBy similarity1
Modified residuei915PhosphotyrosineCombined sources1
Modified residuei934PhosphoserineBy similarity1
Modified residuei944PhosphotyrosineBy similarity1
Modified residuei960PhosphoserineCombined sources1
Modified residuei963PhosphothreonineCombined sources1
Modified residuei971PhosphoserineCombined sources1
Modified residuei1022PhosphotyrosineBy similarity1

Post-translational modificationi

Tyrosine phosphorylated by the members of the SRC family after exposure to a diverse array of extracellular stimuli such as cytokines, growth factors, antibodies, chemokines, integrin ligands and hypertonic and oxidative stress. Phosphorylated upon IgG receptor FCGR2B-binding.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ92835
MaxQBiQ92835
PaxDbiQ92835
PeptideAtlasiQ92835
PRIDEiQ92835
ProteomicsDBi75518
75519 [Q92835-2]
75520 [Q92835-3]

PTM databases

DEPODiQ92835
iPTMnetiQ92835
PhosphoSitePlusiQ92835

Expressioni

Tissue specificityi

Specifically expressed in immune and hematopoietic cells. Expressed in bone marrow and blood cells. Levels vary considerably within this compartment. Present in at least 74% of immature CD34+ cells, whereas within the more mature population of CD33+ cells, it is present in only 10% of cells. Present in the majority of T-cells, while it is present in a minority of B-cells (at protein level).4 Publications

Gene expression databases

BgeeiENSG00000168918 Expressed in 168 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_INPP5D
ExpressionAtlasiQ92835 baseline and differential
GenevisibleiQ92835 HS

Organism-specific databases

HPAiCAB016300
HPA070455

Interactioni

Subunit structurei

Interacts with tyrosine phosphorylated form of SHC1 (PubMed:8874179). Interacts with tyrosine phosphorylated form of DOK1 (PubMed:10822173). Interacts with tyrosine phosphorylated form of DOK3 (By similarity). Interacts with tyrosine phosphorylated form of SLAMF1/CD150 (PubMed:10229804). Interacts with PTPN11 in response to IL-3 (By similarity). Interacts with receptor EPOR (By similarity). Interacts with receptors MS4A2/FCER1B and FCER1G (By similarity). Interacts with receptors FCGR2B and FCGR3 (By similarity). Interacts with receptor FCGR2A, leading to regulate gene expression during the phagocytic process (By similarity). Interacts with GRB2 (PubMed:8723348, PubMed:9108392). Interacts with PLCG1 (By similarity). Interacts with tyrosine kinases SRC and TEC (By similarity). Interacts with c-Met/MET (By similarity). Interacts with MILR1 (tyrosine-phosphorylated) (By similarity). Can weakly interact (via NPXY motif 2) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif (By similarity). Interacts with FCRL3 and FCRL6 (tyrosine phosphorylated form) (PubMed:20933011, PubMed:19843936).By similarity2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109847, 40 interactors
ELMiQ92835
IntActiQ92835, 27 interactors
MINTiQ92835
STRINGi9606.ENSP00000352575

Structurei

Secondary structure

11189
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ92835
SMRiQ92835
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ92835

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini5 – 101SH2PROSITE-ProRule annotationAdd BLAST97

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1016 – 1030Interaction with DAB2By similarityAdd BLAST15

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi124 – 129SH3-binding 16
Motifi912 – 915NPXY motif 14
Motifi969 – 974SH3-binding 26
Motifi1019 – 1022NPXY motif 24
Motifi1040 – 1051SH3-binding 3Add BLAST12

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi920 – 1148Pro-richAdd BLAST229

Domaini

The SH2 domain interacts with tyrosine phosphorylated forms of proteins such as SHC1 or PTPN11/SHP-2. It competes with that of GRB2 for binding to phosphorylated SHC1 to inhibit the Ras pathway. It is also required for tyrosine phosphorylation (By similarity).By similarity
The NPXY sequence motif found in many tyrosine-phosphorylated proteins is required for the specific binding of the PID domain.By similarity

Sequence similaritiesi

Keywords - Domaini

Repeat, SH2 domain, SH3-binding

Phylogenomic databases

eggNOGiKOG0565 Eukaryota
COG5411 LUCA
GeneTreeiENSGT00760000119075
HOVERGENiHBG106726
InParanoidiQ92835
KOiK03084
OMAiHFQGEIK
OrthoDBiEOG091G00P6
PhylomeDBiQ92835
TreeFamiTF323475

Family and domain databases

Gene3Di3.30.505.10, 1 hit
3.60.10.10, 1 hit
InterProiView protein in InterPro
IPR036691 Endo/exonu/phosph_ase_sf
IPR005135 Endo/exonuclease/phosphatase
IPR000300 IPPc
IPR000980 SH2
IPR036860 SH2_dom_sf
PfamiView protein in Pfam
PF03372 Exo_endo_phos, 1 hit
PF00017 SH2, 1 hit
PRINTSiPR00401 SH2DOMAIN
SMARTiView protein in SMART
SM00128 IPPc, 1 hit
SM00252 SH2, 1 hit
SUPFAMiSSF55550 SSF55550, 1 hit
SSF56219 SSF56219, 1 hit
PROSITEiView protein in PROSITE
PS50001 SH2, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92835-1) [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
MVPCWNHGNI TRSKAEELLS RTGKDGSFLV RASESISRAY ALCVLYRNCV
60 70 80 90 100
YTYRILPNED DKFTVQASEG VSMRFFTKLD QLIEFYKKEN MGLVTHLQYP
110 120 130 140 150
VPLEEEDTGD DPEEDTVESV VSPPELPPRN IPLTASSCEA KEVPFSNENP
160 170 180 190 200
RATETSRPSL SETLFQRLQS MDTSGLPEEH LKAIQDYLST QLAQDSEFVK
210 220 230 240 250
TGSSSLPHLK KLTTLLCKEL YGEVIRTLPS LESLQRLFDQ QLSPGLRPRP
260 270 280 290 300
QVPGEANPIN MVSKLSQLTS LLSSIEDKVK ALLHEGPESP HRPSLIPPVT
310 320 330 340 350
FEVKAESLGI PQKMQLKVDV ESGKLIIKKS KDGSEDKFYS HKKILQLIKS
360 370 380 390 400
QKFLNKLVIL VETEKEKILR KEYVFADSKK REGFCQLLQQ MKNKHSEQPE
410 420 430 440 450
PDMITIFIGT WNMGNAPPPK KITSWFLSKG QGKTRDDSAD YIPHDIYVIG
460 470 480 490 500
TQEDPLSEKE WLEILKHSLQ EITSVTFKTV AIHTLWNIRI VVLAKPEHEN
510 520 530 540 550
RISHICTDNV KTGIANTLGN KGAVGVSFMF NGTSLGFVNS HLTSGSEKKL
560 570 580 590 600
RRNQNYMNIL RFLALGDKKL SPFNITHRFT HLFWFGDLNY RVDLPTWEAE
610 620 630 640 650
TIIQKIKQQQ YADLLSHDQL LTERREQKVF LHFEEEEITF APTYRFERLT
660 670 680 690 700
RDKYAYTKQK ATGMKYNLPS WCDRVLWKSY PLVHVVCQSY GSTSDIMTSD
710 720 730 740 750
HSPVFATFEA GVTSQFVSKN GPGTVDSQGQ IEFLRCYATL KTKSQTKFYL
760 770 780 790 800
EFHSSCLESF VKSQEGENEE GSEGELVVKF GETLPKLKPI ISDPEYLLDQ
810 820 830 840 850
HILISIKSSD SDESYGEGCI ALRLEATETQ LPIYTPLTHH GELTGHFQGE
860 870 880 890 900
IKLQTSQGKT REKLYDFVKT ERDESSGPKT LKSLTSHDPM KQWEVTSRAP
910 920 930 940 950
PCSGSSITEI INPNYMGVGP FGPPMPLHVK QTLSPDQQPT AWSYDQPPKD
960 970 980 990 1000
SPLGPCRGES PPTPPGQPPI SPKKFLPSTA NRGLPPRTQE SRPSDLGKNA
1010 1020 1030 1040 1050
GDTLPQEDLP LTKPEMFENP LYGSLSSFPK PAPRKDQESP KMPRKEPPPC
1060 1070 1080 1090 1100
PEPGILSPSI VLTKAQEADR GEGPGKQVPA PRLRSFTCSS SAEGRAAGGD
1110 1120 1130 1140 1150
KSQGKPKTPV SSQAPVPAKR PIKPSRSEIN QQTPPTPTPR PPLPVKSPAV
1160 1170 1180
LHLQHSKGRD YRDNTELPHH GKHRPEEGPP GPLGRTAMQ
Length:1,189
Mass (Da):133,292
Last modified:September 11, 2007 - v2
Checksum:i7958E91A64A4B68B
GO
Isoform 2 (identifier: Q92835-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-117: Missing.

Show »
Length:1,188
Mass (Da):133,193
Checksum:i335673E161C5FFAD
GO
Isoform 3 (identifier: Q92835-3) [UniParc]FASTAAdd to basket
Also known as: SIP-110

The sequence of this isoform differs from the canonical sequence as follows:
     1-212: Missing.
     213-222: TTLLCKELYG → MFTLSPAPR

Show »
Length:976
Mass (Da):109,294
Checksum:i2B90E6DD584DD048
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y5Q9H0Y5Q9_HUMAN
Phosphatidylinositol 3,4,5-trisphos...
INPP5D
810Annotation score:
H7C403H7C403_HUMAN
Phosphatidylinositol 3,4,5-trisphos...
INPP5D
130Annotation score:
R4GMN8R4GMN8_HUMAN
Phosphatidylinositol 3,4,5-trisphos...
INPP5D
43Annotation score:

Sequence cautioni

The sequence AAC50454 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti25 – 26DG → GT in AAB49680 (PubMed:9058707).Curated2
Sequence conflicti1029P → H in AAB49680 (PubMed:9058707).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034979685V → E in one patient with acute myeloid leukemya; somatic mutation. 1 Publication1
Natural variantiVAR_0593581169H → Y2 PublicationsCorresponds to variant dbSNP:rs9247Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0279771 – 212Missing in isoform 3. 1 PublicationAdd BLAST212
Alternative sequenceiVSP_027978117Missing in isoform 2. 3 Publications1
Alternative sequenceiVSP_027979213 – 222TTLLCKELYG → MFTLSPAPR in isoform 3. 1 Publication10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98429 mRNA Translation: CAA67071.1
U57650 mRNA Translation: AAB53573.1
U50040 mRNA Translation: AAC50453.1
U50041 mRNA Translation: AAC50454.1 Different initiation.
U84400 mRNA Translation: AAB49680.1
U53470 mRNA Translation: AAD00081.1
BC062985 mRNA Translation: AAH62985.1
BC099920 mRNA Translation: AAH99920.1
BC113580 mRNA Translation: AAI13581.1
BC113582 mRNA Translation: AAI13583.1
CCDSiCCDS74672.1 [Q92835-1]
CCDS77543.1 [Q92835-2]
PIRiJC4889
RefSeqiNP_001017915.1, NM_001017915.2 [Q92835-1]
NP_005532.2, NM_005541.4 [Q92835-2]
UniGeneiHs.262886
Hs.601911

Genome annotation databases

EnsembliENST00000359570; ENSP00000352575; ENSG00000168918 [Q92835-2]
ENST00000445964; ENSP00000405338; ENSG00000168918 [Q92835-1]
ENST00000629761; ENSP00000486669; ENSG00000281614 [Q92835-2]
ENST00000630854; ENSP00000487191; ENSG00000281614 [Q92835-1]
GeneIDi3635
KEGGihsa:3635
UCSCiuc032ovq.2 human [Q92835-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98429 mRNA Translation: CAA67071.1
U57650 mRNA Translation: AAB53573.1
U50040 mRNA Translation: AAC50453.1
U50041 mRNA Translation: AAC50454.1 Different initiation.
U84400 mRNA Translation: AAB49680.1
U53470 mRNA Translation: AAD00081.1
BC062985 mRNA Translation: AAH62985.1
BC099920 mRNA Translation: AAH99920.1
BC113580 mRNA Translation: AAI13581.1
BC113582 mRNA Translation: AAI13583.1
CCDSiCCDS74672.1 [Q92835-1]
CCDS77543.1 [Q92835-2]
PIRiJC4889
RefSeqiNP_001017915.1, NM_001017915.2 [Q92835-1]
NP_005532.2, NM_005541.4 [Q92835-2]
UniGeneiHs.262886
Hs.601911

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YSXNMR-A1-112[»]
ProteinModelPortaliQ92835
SMRiQ92835
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109847, 40 interactors
ELMiQ92835
IntActiQ92835, 27 interactors
MINTiQ92835
STRINGi9606.ENSP00000352575

Chemistry databases

ChEMBLiCHEMBL1781870
SwissLipidsiSLP:000000951

PTM databases

DEPODiQ92835
iPTMnetiQ92835
PhosphoSitePlusiQ92835

Polymorphism and mutation databases

BioMutaiINPP5D
DMDMi158564077

Proteomic databases

EPDiQ92835
MaxQBiQ92835
PaxDbiQ92835
PeptideAtlasiQ92835
PRIDEiQ92835
ProteomicsDBi75518
75519 [Q92835-2]
75520 [Q92835-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359570; ENSP00000352575; ENSG00000168918 [Q92835-2]
ENST00000445964; ENSP00000405338; ENSG00000168918 [Q92835-1]
ENST00000629761; ENSP00000486669; ENSG00000281614 [Q92835-2]
ENST00000630854; ENSP00000487191; ENSG00000281614 [Q92835-1]
GeneIDi3635
KEGGihsa:3635
UCSCiuc032ovq.2 human [Q92835-1]

Organism-specific databases

CTDi3635
DisGeNETi3635
EuPathDBiHostDB:ENSG00000168918.13
GeneCardsiINPP5D
H-InvDBiHIX0057065
HGNCiHGNC:6079 INPP5D
HPAiCAB016300
HPA070455
MIMi601582 gene
neXtProtiNX_Q92835
OpenTargetsiENSG00000168918
PharmGKBiPA29887
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0565 Eukaryota
COG5411 LUCA
GeneTreeiENSGT00760000119075
HOVERGENiHBG106726
InParanoidiQ92835
KOiK03084
OMAiHFQGEIK
OrthoDBiEOG091G00P6
PhylomeDBiQ92835
TreeFamiTF323475

Enzyme and pathway databases

BioCyciMetaCyc:HS09849-MONOMER
BRENDAi3.1.3.86 2681
ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-202424 Downstream TCR signaling
R-HSA-210990 PECAM1 interactions
R-HSA-912526 Interleukin receptor SHC signaling
SignaLinkiQ92835
SIGNORiQ92835

Miscellaneous databases

ChiTaRSiINPP5D human
EvolutionaryTraceiQ92835
GeneWikiiINPP5D
GenomeRNAii3635
PROiPR:Q92835
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168918 Expressed in 168 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_INPP5D
ExpressionAtlasiQ92835 baseline and differential
GenevisibleiQ92835 HS

Family and domain databases

Gene3Di3.30.505.10, 1 hit
3.60.10.10, 1 hit
InterProiView protein in InterPro
IPR036691 Endo/exonu/phosph_ase_sf
IPR005135 Endo/exonuclease/phosphatase
IPR000300 IPPc
IPR000980 SH2
IPR036860 SH2_dom_sf
PfamiView protein in Pfam
PF03372 Exo_endo_phos, 1 hit
PF00017 SH2, 1 hit
PRINTSiPR00401 SH2DOMAIN
SMARTiView protein in SMART
SM00128 IPPc, 1 hit
SM00252 SH2, 1 hit
SUPFAMiSSF55550 SSF55550, 1 hit
SSF56219 SSF56219, 1 hit
PROSITEiView protein in PROSITE
PS50001 SH2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSHIP1_HUMAN
AccessioniPrimary (citable) accession number: Q92835
Secondary accession number(s): O00145
, Q13544, Q13545, Q6P5A4, Q92656, Q9UE80
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: November 7, 2018
This is version 151 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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