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Protein

Target of rapamycin complex 2 subunit MAPKAP1

Gene

MAPKAP1

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

Functioni

Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. mTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. Within mTORC2, MAPKAP1 is required for complex formation and mTORC2 kinase activity. MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation. Inhibits HRAS and KRAS signaling. Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription. Involved in ciliogenesis, regulates cilia length through its interaction with CCDC28B independently of mTORC2 complex.6 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processStress response

Enzyme and pathway databases

ReactomeiR-HSA-1257604 PIP3 activates AKT signaling
R-HSA-389357 CD28 dependent PI3K/Akt signaling
R-HSA-5218920 VEGFR2 mediated vascular permeability
R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer
R-HSA-6804757 Regulation of TP53 Degradation
SIGNORiQ9BPZ7

Names & Taxonomyi

Protein namesi
Recommended name:
Target of rapamycin complex 2 subunit MAPKAP1
Short name:
TORC2 subunit MAPKAP1
Alternative name(s):
Mitogen-activated protein kinase 2-associated protein 1
Stress-activated map kinase-interacting protein 1
Short name:
SAPK-interacting protein 1
Short name:
mSIN1
Gene namesi
Name:MAPKAP1
Synonyms:MIP1, SIN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000119487.16
HGNCiHGNC:18752 MAPKAP1
MIMi610558 gene
neXtProtiNX_Q9BPZ7

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, Cytoplasmic vesicle, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi79109
OpenTargetsiENSG00000119487
PharmGKBiPA38674

Polymorphism and mutation databases

BioMutaiMAPKAP1
DMDMi15214282

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002187682 – 522Target of rapamycin complex 2 subunit MAPKAP1Add BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1
Modified residuei186PhosphoserineCombined sources1
Modified residuei510PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9BPZ7
MaxQBiQ9BPZ7
PaxDbiQ9BPZ7
PeptideAtlasiQ9BPZ7
PRIDEiQ9BPZ7
ProteomicsDBi78599
78600 [Q9BPZ7-2]
78601 [Q9BPZ7-3]
78602 [Q9BPZ7-4]
78603 [Q9BPZ7-5]
78604 [Q9BPZ7-6]

PTM databases

iPTMnetiQ9BPZ7
PhosphoSitePlusiQ9BPZ7

Expressioni

Tissue specificityi

Ubiquitously expressed, with highest levels in heart and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000119487 Expressed in 224 organ(s), highest expression level in urinary bladder
ExpressionAtlasiQ9BPZ7 baseline and differential
GenevisibleiQ9BPZ7 HS

Organism-specific databases

HPAiHPA029091
HPA029092

Interactioni

Subunit structurei

All isoforms except isoform 4 can be incorporated into the mammalian target of rapamycin complex 2 (mTORC2) which contains MTOR, MLST8, PRR5, RICTOR, MAPKAP1 and DEPTOR. Contrary to mTORC1, mTORC2 does not bind to and is not sensitive to FKBP12-rapamycin. Interacts with ATF2, MAP3K2 and MAPK8. Interacts with GTP-bound HRAS and KRAS. Interacts with IFNAR2 and SGK1. Isoform 2 interacts with NBN. Isoform 1 interacts with CCDC28B.7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PRKDCP785272EBI-749938,EBI-352053

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122551, 74 interactors
CORUMiQ9BPZ7
DIPiDIP-39480N
IntActiQ9BPZ7, 27 interactors
MINTiQ9BPZ7
STRINGi9606.ENSP00000265960

Structurei

Secondary structure

1522
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9BPZ7
SMRiQ9BPZ7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 267Interaction with NBN1 PublicationAdd BLAST266
Regioni2 – 184Interaction with MAP3K21 PublicationAdd BLAST183
Regioni468 – 522Interaction with ATF21 PublicationAdd BLAST55

Sequence similaritiesi

Belongs to the SIN1 family.Curated

Phylogenomic databases

eggNOGiKOG3739 Eukaryota
ENOG410XR57 LUCA
GeneTreeiENSGT00390000000642
HOVERGENiHBG023148
InParanoidiQ9BPZ7
KOiK20410
OMAiNAKFWPQ
OrthoDBiEOG091G0AVW
PhylomeDBiQ9BPZ7
TreeFamiTF315174

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR031567 CRIM_dom
IPR011993 PH-like_dom_sf
IPR032679 Sin1_N
IPR031313 Sin1_PH_dom
PfamiView protein in Pfam
PF16978 CRIM, 1 hit
PF05422 SIN1, 1 hit
PF16979 SIN1_PH, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BPZ7-1) [UniParc]FASTAAdd to basket
Also known as: beta, gamma

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
MAFLDNPTII LAHIRQSHVT SDDTGMCEMV LIDHDVDLEK IHPPSMPGDS
60 70 80 90 100
GSEIQGSNGE TQGYVYAQSV DITSSWDFGI RRRSNTAQRL ERLRKERQNQ
110 120 130 140 150
IKCKNIQWKE RNSKQSAQEL KSLFEKKSLK EKPPISGKQS ILSVRLEQCP
160 170 180 190 200
LQLNNPFNEY SKFDGKGHVG TTATKKIDVY LPLHSSQDRL LPMTVVTMAS
210 220 230 240 250
ARVQDLIGLI CWQYTSEGRE PKLNDNVSAY CLHIAEDDGE VDTDFPPLDS
260 270 280 290 300
NEPIHKFGFS TLALVEKYSS PGLTSKESLF VRINAAHGFS LIQVDNTKVT
310 320 330 340 350
MKEILLKAVK RRKGSQKVSG PQYRLEKQSE PNVAVDLDST LESQSAWEFC
360 370 380 390 400
LVRENSSRAD GVFEEDSQID IATVQDMLSS HHYKSFKVSM IHRLRFTTDV
410 420 430 440 450
QLGISGDKVE IDPVTNQKAS TKFWIKQKPI SIDSDLLCAC DLAEEKSPSH
460 470 480 490 500
AIFKLTYLSN HDYKHLYFES DAATVNEIVL KVNYILESRA STARADYFAQ
510 520
KQRKLNRRTS FSFQKEKKSG QQ
Length:522
Mass (Da):59,123
Last modified:August 14, 2001 - v2
Checksum:iE3B808C6E58F7C48
GO
Isoform 2 (identifier: Q9BPZ7-2) [UniParc]FASTAAdd to basket
Also known as: alpha, beta

The sequence of this isoform differs from the canonical sequence as follows:
     321-356: Missing.

Show »
Length:486
Mass (Da):54,971
Checksum:iC880D5047EEEC4A0
GO
Isoform 3 (identifier: Q9BPZ7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     357-403: Missing.

Show »
Length:475
Mass (Da):53,744
Checksum:iAC1274FBE11ED04E
GO
Isoform 4 (identifier: Q9BPZ7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-192: Missing.

Note: Not involved in a TORC2 complex.
Show »
Length:330
Mass (Da):37,320
Checksum:iE9ABF4B32E394142
GO
Isoform 5 (identifier: Q9BPZ7-5) [UniParc]FASTAAdd to basket
Also known as: alpha

The sequence of this isoform differs from the canonical sequence as follows:
     321-438: Missing.
     442-522: Missing.

Show »
Length:323
Mass (Da):36,237
Checksum:iFECEC53E16862340
GO
Isoform 6 (identifier: Q9BPZ7-6) [UniParc]FASTAAdd to basket
Also known as: gamma

The sequence of this isoform differs from the canonical sequence as follows:
     357-372: SRADGVFEEDSQIDIA → TLAASLHARFVRCKLA
     373-522: Missing.

Show »
Length:372
Mass (Da):41,838
Checksum:i228CE1A0DB9E2CD8
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AMB2B1AMB2_HUMAN
Target of rapamycin complex 2 subun...
MAPKAP1
132Annotation score:
E9PGB8E9PGB8_HUMAN
Target of rapamycin complex 2 subun...
MAPKAP1
245Annotation score:
B1AMA5B1AMA5_HUMAN
Target of rapamycin complex 2 subun...
MAPKAP1
253Annotation score:
B1AMA6B1AMA6_HUMAN
Target of rapamycin complex 2 subun...
MAPKAP1
127Annotation score:
H0Y7F8H0Y7F8_HUMAN
Target of rapamycin complex 2 subun...
MAPKAP1
94Annotation score:
H0Y866H0Y866_HUMAN
Target of rapamycin complex 2 subun...
MAPKAP1
133Annotation score:
B1AMB1B1AMB1_HUMAN
Target of rapamycin complex 2 subun...
MAPKAP1
93Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti76 – 86WDFGIRRRSNT → ADPARSVEAAS in AAA36551 (PubMed:1849280).CuratedAdd BLAST11
Sequence conflicti178D → N in AAT46480 (PubMed:15988011).Curated1
Sequence conflicti178D → N in AAT46478 (PubMed:15988011).Curated1
Sequence conflicti178D → N in AAT46479 (PubMed:15988011).Curated1
Sequence conflicti305L → F in BAF82749 (PubMed:14702039).Curated1
Sequence conflicti478I → T in CAH56311 (PubMed:17974005).Curated1
Sequence conflicti491S → N in AAT46478 (PubMed:15988011).Curated1
Sequence conflicti491S → N in AAT46479 (PubMed:15988011).Curated1
Sequence conflicti502Q → K in AAA36551 (PubMed:1849280).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0332021 – 192Missing in isoform 4. 2 PublicationsAdd BLAST192
Alternative sequenceiVSP_033203321 – 438Missing in isoform 5. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_006098321 – 356Missing in isoform 2. 4 PublicationsAdd BLAST36
Alternative sequenceiVSP_033204357 – 403Missing in isoform 3. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_033205357 – 372SRADG…QIDIA → TLAASLHARFVRCKLA in isoform 6. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_033206373 – 522Missing in isoform 6. 1 PublicationAdd BLAST150
Alternative sequenceiVSP_033207442 – 522Missing in isoform 5. 1 PublicationAdd BLAST81

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY524429 mRNA Translation: AAS90839.1
AY524430 mRNA Translation: AAS90840.1
AY524431 mRNA Translation: AAS90841.1
AY524432 mRNA Translation: AAS90842.1
AY633624 mRNA Translation: AAT46478.1
AY633625 mRNA Translation: AAT46479.1
AY633626 mRNA Translation: AAT46480.1
AK290060 mRNA Translation: BAF82749.1
AK295364 mRNA Translation: BAH12045.1
AK316149 mRNA Translation: BAH14520.1
AL833042 mRNA Translation: CAH56311.1
AL162584 Genomic DNA No translation available.
AL359632 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87630.1
CH471090 Genomic DNA Translation: EAW87631.1
CH471090 Genomic DNA Translation: EAW87632.1
BC003044 mRNA Translation: AAH03044.1
BC002326 mRNA Translation: AAH02326.1
M37191 mRNA Translation: AAA36551.1
CCDSiCCDS35139.1 [Q9BPZ7-3]
CCDS35140.1 [Q9BPZ7-1]
CCDS35141.1 [Q9BPZ7-4]
CCDS48020.1 [Q9BPZ7-5]
CCDS6864.1 [Q9BPZ7-2]
PIRiC38637
RefSeqiNP_001006618.1, NM_001006617.1 [Q9BPZ7-1]
NP_001006619.1, NM_001006618.1 [Q9BPZ7-5]
NP_001006620.1, NM_001006619.1 [Q9BPZ7-3]
NP_001006621.1, NM_001006620.1 [Q9BPZ7-4]
NP_001006622.1, NM_001006621.1 [Q9BPZ7-4]
NP_077022.1, NM_024117.3 [Q9BPZ7-2]
XP_011517312.1, XM_011519010.2 [Q9BPZ7-4]
XP_016870615.1, XM_017015126.1 [Q9BPZ7-1]
XP_016870616.1, XM_017015127.1 [Q9BPZ7-2]
UniGeneiHs.495138

Genome annotation databases

EnsembliENST00000265960; ENSP00000265960; ENSG00000119487 [Q9BPZ7-1]
ENST00000350766; ENSP00000265961; ENSG00000119487 [Q9BPZ7-2]
ENST00000373498; ENSP00000362597; ENSG00000119487 [Q9BPZ7-1]
ENST00000373503; ENSP00000362602; ENSG00000119487 [Q9BPZ7-4]
ENST00000373511; ENSP00000362610; ENSG00000119487 [Q9BPZ7-3]
ENST00000394060; ENSP00000377624; ENSG00000119487 [Q9BPZ7-5]
ENST00000394063; ENSP00000377627; ENSG00000119487 [Q9BPZ7-4]
GeneIDi79109
KEGGihsa:79109
UCSCiuc004bpv.3 human [Q9BPZ7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY524429 mRNA Translation: AAS90839.1
AY524430 mRNA Translation: AAS90840.1
AY524431 mRNA Translation: AAS90841.1
AY524432 mRNA Translation: AAS90842.1
AY633624 mRNA Translation: AAT46478.1
AY633625 mRNA Translation: AAT46479.1
AY633626 mRNA Translation: AAT46480.1
AK290060 mRNA Translation: BAF82749.1
AK295364 mRNA Translation: BAH12045.1
AK316149 mRNA Translation: BAH14520.1
AL833042 mRNA Translation: CAH56311.1
AL162584 Genomic DNA No translation available.
AL359632 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87630.1
CH471090 Genomic DNA Translation: EAW87631.1
CH471090 Genomic DNA Translation: EAW87632.1
BC003044 mRNA Translation: AAH03044.1
BC002326 mRNA Translation: AAH02326.1
M37191 mRNA Translation: AAA36551.1
CCDSiCCDS35139.1 [Q9BPZ7-3]
CCDS35140.1 [Q9BPZ7-1]
CCDS35141.1 [Q9BPZ7-4]
CCDS48020.1 [Q9BPZ7-5]
CCDS6864.1 [Q9BPZ7-2]
PIRiC38637
RefSeqiNP_001006618.1, NM_001006617.1 [Q9BPZ7-1]
NP_001006619.1, NM_001006618.1 [Q9BPZ7-5]
NP_001006620.1, NM_001006619.1 [Q9BPZ7-3]
NP_001006621.1, NM_001006620.1 [Q9BPZ7-4]
NP_001006622.1, NM_001006621.1 [Q9BPZ7-4]
NP_077022.1, NM_024117.3 [Q9BPZ7-2]
XP_011517312.1, XM_011519010.2 [Q9BPZ7-4]
XP_016870615.1, XM_017015126.1 [Q9BPZ7-1]
XP_016870616.1, XM_017015127.1 [Q9BPZ7-2]
UniGeneiHs.495138

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3VOQX-ray2.00A/B372-493[»]
5ZCSelectron microscopy4.90G/H141-522[»]
ProteinModelPortaliQ9BPZ7
SMRiQ9BPZ7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122551, 74 interactors
CORUMiQ9BPZ7
DIPiDIP-39480N
IntActiQ9BPZ7, 27 interactors
MINTiQ9BPZ7
STRINGi9606.ENSP00000265960

PTM databases

iPTMnetiQ9BPZ7
PhosphoSitePlusiQ9BPZ7

Polymorphism and mutation databases

BioMutaiMAPKAP1
DMDMi15214282

Proteomic databases

EPDiQ9BPZ7
MaxQBiQ9BPZ7
PaxDbiQ9BPZ7
PeptideAtlasiQ9BPZ7
PRIDEiQ9BPZ7
ProteomicsDBi78599
78600 [Q9BPZ7-2]
78601 [Q9BPZ7-3]
78602 [Q9BPZ7-4]
78603 [Q9BPZ7-5]
78604 [Q9BPZ7-6]

Protocols and materials databases

DNASUi79109
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265960; ENSP00000265960; ENSG00000119487 [Q9BPZ7-1]
ENST00000350766; ENSP00000265961; ENSG00000119487 [Q9BPZ7-2]
ENST00000373498; ENSP00000362597; ENSG00000119487 [Q9BPZ7-1]
ENST00000373503; ENSP00000362602; ENSG00000119487 [Q9BPZ7-4]
ENST00000373511; ENSP00000362610; ENSG00000119487 [Q9BPZ7-3]
ENST00000394060; ENSP00000377624; ENSG00000119487 [Q9BPZ7-5]
ENST00000394063; ENSP00000377627; ENSG00000119487 [Q9BPZ7-4]
GeneIDi79109
KEGGihsa:79109
UCSCiuc004bpv.3 human [Q9BPZ7-1]

Organism-specific databases

CTDi79109
DisGeNETi79109
EuPathDBiHostDB:ENSG00000119487.16
GeneCardsiMAPKAP1
HGNCiHGNC:18752 MAPKAP1
HPAiHPA029091
HPA029092
MIMi610558 gene
neXtProtiNX_Q9BPZ7
OpenTargetsiENSG00000119487
PharmGKBiPA38674
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3739 Eukaryota
ENOG410XR57 LUCA
GeneTreeiENSGT00390000000642
HOVERGENiHBG023148
InParanoidiQ9BPZ7
KOiK20410
OMAiNAKFWPQ
OrthoDBiEOG091G0AVW
PhylomeDBiQ9BPZ7
TreeFamiTF315174

Enzyme and pathway databases

ReactomeiR-HSA-1257604 PIP3 activates AKT signaling
R-HSA-389357 CD28 dependent PI3K/Akt signaling
R-HSA-5218920 VEGFR2 mediated vascular permeability
R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer
R-HSA-6804757 Regulation of TP53 Degradation
SIGNORiQ9BPZ7

Miscellaneous databases

ChiTaRSiMAPKAP1 human
GeneWikiiMAPKAP1
GenomeRNAii79109
PROiPR:Q9BPZ7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119487 Expressed in 224 organ(s), highest expression level in urinary bladder
ExpressionAtlasiQ9BPZ7 baseline and differential
GenevisibleiQ9BPZ7 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR031567 CRIM_dom
IPR011993 PH-like_dom_sf
IPR032679 Sin1_N
IPR031313 Sin1_PH_dom
PfamiView protein in Pfam
PF16978 CRIM, 1 hit
PF05422 SIN1, 1 hit
PF16979 SIN1_PH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSIN1_HUMAN
AccessioniPrimary (citable) accession number: Q9BPZ7
Secondary accession number(s): A8K1Z5
, B1AMA4, B7Z309, Q00426, Q5JSV5, Q5JSV6, Q5JSV9, Q658R0, Q699U1, Q699U2, Q699U3, Q699U4, Q6GVJ0, Q6GVJ1, Q6GVJ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: August 14, 2001
Last modified: September 12, 2018
This is version 153 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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