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P29992

- GNA11_HUMAN

UniProt

P29992 - GNA11_HUMAN

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Protein

Guanine nucleotide-binding protein subunit alpha-11

Gene

GNA11

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

Functioni

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi53 – 531MagnesiumBy similarity
Metal bindingi186 – 1861MagnesiumBy similarity
Binding sitei331 – 3311GTP; via amide nitrogenBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi46 – 538GTPBy similarity
Nucleotide bindingi180 – 1867GTPBy similarity
Nucleotide bindingi205 – 2095GTPBy similarity
Nucleotide bindingi274 – 2774GTPBy similarity

GO - Molecular functioni

  1. G-protein beta/gamma-subunit complex binding Source: RefGenome
  2. GTPase activity Source: RefGenome
  3. GTP binding Source: UniProtKB-KW
  4. metal ion binding Source: UniProtKB-KW
  5. signal transducer activity Source: RefGenome
  6. type 2A serotonin receptor binding Source: RefGenome

GO - Biological processi

  1. action potential Source: RefGenome
  2. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: RefGenome
  3. blood coagulation Source: Reactome
  4. cellular response to pH Source: Ensembl
  5. developmental pigmentation Source: Ensembl
  6. heart development Source: Ensembl
  7. phospholipase C-activating dopamine receptor signaling pathway Source: RefGenome
  8. platelet activation Source: Reactome
  9. regulation of melanocyte differentiation Source: Ensembl
  10. signal transduction Source: ProtInc
  11. skeletal system development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Transducer

Keywords - Ligandi

GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_18283. G alpha (q) signalling events.
REACT_18405. Acetylcholine regulates insulin secretion.
REACT_19140. ADP signalling through P2Y purinoceptor 1.
REACT_19193. Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion.
REACT_20647. Thromboxane signalling through TP receptor.
REACT_21384. Thrombin signalling through proteinase activated receptors (PARs).

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein subunit alpha-11
Short name:
G alpha-11
Short name:
G-protein subunit alpha-11
Alternative name(s):
Guanine nucleotide-binding protein G(y) subunit alpha
Gene namesi
Name:GNA11
Synonyms:GA11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:4379. GNA11.

Subcellular locationi

Cell membrane 1 Publication; Lipid-anchor 1 Publication. Cytoplasm 1 Publication
Note: In testicular cells, expressed exclusively in the cytoplasm.

GO - Cellular componenti

  1. cytoplasm Source: ProtInc
  2. extracellular vesicular exosome Source: UniProtKB
  3. heterotrimeric G-protein complex Source: RefGenome
  4. lysosomal membrane Source: UniProtKB
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351L → Q in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 Publication
VAR_070166
Natural varianti200 – 2001Missing in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 Publication
VAR_070168
Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]: A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601R → C in HYPOC2. 1 Publication
VAR_070165
Natural varianti181 – 1811R → Q in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 Publication
VAR_070167
Natural varianti211 – 2111S → W in HYPOC2. 1 Publication
VAR_070169
Natural varianti341 – 3411F → L in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 Publication
VAR_070170

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi145981. phenotype.
615361. phenotype.
Orphaneti428. Autosomal dominant hypocalcemia.
101049. Familial hypocalciuric hypercalcemia type 2.
PharmGKBiPA28764.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 359359Guanine nucleotide-binding protein subunit alpha-11PRO_0000203746Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi9 – 91S-palmitoyl cysteine1 Publication
Lipidationi10 – 101S-palmitoyl cysteine1 Publication
Modified residuei183 – 1831ADP-ribosylarginine; by cholera toxinBy similarity

Keywords - PTMi

ADP-ribosylation, Lipoprotein, Palmitate

Proteomic databases

MaxQBiP29992.
PaxDbiP29992.
PRIDEiP29992.

PTM databases

PhosphoSiteiP29992.

Expressioni

Tissue specificityi

Expressed in testis.1 Publication

Gene expression databases

BgeeiP29992.
CleanExiHS_GNA11.
ExpressionAtlasiP29992. baseline and differential.
GenevestigatoriP29992.

Organism-specific databases

HPAiHPA048886.

Interactioni

Subunit structurei

G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with RGS22. Interacts with NTSR1.2 Publications

Protein-protein interaction databases

BioGridi109029. 25 interactions.
IntActiP29992. 2 interactions.
MINTiMINT-4999662.
STRINGi9606.ENSP00000078429.

Structurei

3D structure databases

ProteinModelPortaliP29992.
SMRiP29992. Positions 37-354.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the G-alpha family. G(q) subfamily.Curated

Phylogenomic databases

eggNOGiNOG322962.
GeneTreeiENSGT00760000118851.
HOGENOMiHOG000038729.
HOVERGENiHBG063184.
InParanoidiP29992.
KOiK04635.
OMAiKTLWDDP.
OrthoDBiEOG7ZWD1W.
PhylomeDBiP29992.
TreeFamiTF300673.

Family and domain databases

Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR000654. Gprotein_alpha_Q.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10218. PTHR10218. 1 hit.
PfamiPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSiPR00318. GPROTEINA.
PR00442. GPROTEINAQ.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.

Sequencei

Sequence statusi: Complete.

P29992-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MTLESMMACC LSDEVKESKR INAEIEKQLR RDKRDARREL KLLLLGTGES
60 70 80 90 100
GKSTFIKQMR IIHGAGYSEE DKRGFTKLVY QNIFTAMQAM IRAMETLKIL
110 120 130 140 150
YKYEQNKANA LLIREVDVEK VTTFEHQYVS AIKTLWEDPG IQECYDRRRE
160 170 180 190 200
YQLSDSAKYY LTDVDRIATL GYLPTQQDVL RVRVPTTGII EYPFDLENII
210 220 230 240 250
FRMVDVGGQR SERRKWIHCF ENVTSIMFLV ALSEYDQVLV ESDNENRMEE
260 270 280 290 300
SKALFRTIIT YPWFQNSSVI LFLNKKDLLE DKILYSHLVD YFPEFDGPQR
310 320 330 340 350
DAQAAREFIL KMFVDLNPDS DKIIYSHFTC ATDTENIRFV FAAVKDTILQ

LNLKEYNLV
Length:359
Mass (Da):42,123
Last modified:July 15, 1998 - v2
Checksum:iDD37176589E66046
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti6 – 61M → I in AAB64303. 1 PublicationCurated
Sequence conflicti266 – 2661N → H in AAA99949. (PubMed:7492305)Curated
Sequence conflicti285 – 2851Y → H in AAA99949. (PubMed:7492305)Curated
Sequence conflicti301 – 3022DA → EP in AAA58624. (PubMed:1902575)Curated
Sequence conflicti310 – 3101L → P in AAB64303. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601R → C in HYPOC2. 1 Publication
VAR_070165
Natural varianti135 – 1351L → Q in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 Publication
VAR_070166
Natural varianti181 – 1811R → Q in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 Publication
VAR_070167
Natural varianti200 – 2001Missing in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 Publication
VAR_070168
Natural varianti211 – 2111S → W in HYPOC2. 1 Publication
VAR_070169
Natural varianti341 – 3411F → L in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 Publication
VAR_070170

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M69013 mRNA. Translation: AAA58624.1.
AF011497 mRNA. Translation: AAB64303.1.
AF493900 mRNA. Translation: AAM12614.1.
CR457004 mRNA. Translation: CAG33285.1.
AC005262 Genomic DNA. Translation: AAC25615.1.
BC089041 mRNA. Translation: AAH89041.1.
BC096225 mRNA. Translation: AAH96225.1.
BC096226 mRNA. Translation: AAH96226.1.
BC096227 mRNA. Translation: AAH96227.1.
L40630 mRNA. Translation: AAA99949.1.
CCDSiCCDS12103.1.
PIRiA39394. RGHUGY.
RefSeqiNP_002058.2. NM_002067.4.
UniGeneiHs.650575.
Hs.654784.

Genome annotation databases

EnsembliENST00000078429; ENSP00000078429; ENSG00000088256.
GeneIDi2767.
KEGGihsa:2767.
UCSCiuc002lxd.3. human.

Polymorphism databases

DMDMi3041682.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M69013 mRNA. Translation: AAA58624.1 .
AF011497 mRNA. Translation: AAB64303.1 .
AF493900 mRNA. Translation: AAM12614.1 .
CR457004 mRNA. Translation: CAG33285.1 .
AC005262 Genomic DNA. Translation: AAC25615.1 .
BC089041 mRNA. Translation: AAH89041.1 .
BC096225 mRNA. Translation: AAH96225.1 .
BC096226 mRNA. Translation: AAH96226.1 .
BC096227 mRNA. Translation: AAH96227.1 .
L40630 mRNA. Translation: AAA99949.1 .
CCDSi CCDS12103.1.
PIRi A39394. RGHUGY.
RefSeqi NP_002058.2. NM_002067.4.
UniGenei Hs.650575.
Hs.654784.

3D structure databases

ProteinModelPortali P29992.
SMRi P29992. Positions 37-354.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109029. 25 interactions.
IntActi P29992. 2 interactions.
MINTi MINT-4999662.
STRINGi 9606.ENSP00000078429.

PTM databases

PhosphoSitei P29992.

Polymorphism databases

DMDMi 3041682.

Proteomic databases

MaxQBi P29992.
PaxDbi P29992.
PRIDEi P29992.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000078429 ; ENSP00000078429 ; ENSG00000088256 .
GeneIDi 2767.
KEGGi hsa:2767.
UCSCi uc002lxd.3. human.

Organism-specific databases

CTDi 2767.
GeneCardsi GC19P003094.
HGNCi HGNC:4379. GNA11.
HPAi HPA048886.
MIMi 139313. gene.
145981. phenotype.
615361. phenotype.
neXtProti NX_P29992.
Orphaneti 428. Autosomal dominant hypocalcemia.
101049. Familial hypocalciuric hypercalcemia type 2.
PharmGKBi PA28764.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG322962.
GeneTreei ENSGT00760000118851.
HOGENOMi HOG000038729.
HOVERGENi HBG063184.
InParanoidi P29992.
KOi K04635.
OMAi KTLWDDP.
OrthoDBi EOG7ZWD1W.
PhylomeDBi P29992.
TreeFami TF300673.

Enzyme and pathway databases

Reactomei REACT_18283. G alpha (q) signalling events.
REACT_18405. Acetylcholine regulates insulin secretion.
REACT_19140. ADP signalling through P2Y purinoceptor 1.
REACT_19193. Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion.
REACT_20647. Thromboxane signalling through TP receptor.
REACT_21384. Thrombin signalling through proteinase activated receptors (PARs).

Miscellaneous databases

ChiTaRSi GNA11. human.
GeneWikii GNA11.
GenomeRNAii 2767.
NextBioi 10884.
PROi P29992.
SOURCEi Search...

Gene expression databases

Bgeei P29992.
CleanExi HS_GNA11.
ExpressionAtlasi P29992. baseline and differential.
Genevestigatori P29992.

Family and domain databases

Gene3Di 1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProi IPR000654. Gprotein_alpha_Q.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR10218. PTHR10218. 1 hit.
Pfami PF00503. G-alpha. 1 hit.
[Graphical view ]
PRINTSi PR00318. GPROTEINA.
PR00442. GPROTEINAQ.
SMARTi SM00275. G_alpha. 1 hit.
[Graphical view ]
SUPFAMi SSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells."
    Jiang M., Pandey S., Tran V.T., Fong H.K.W.
    Proc. Natl. Acad. Sci. U.S.A. 88:3907-3911(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Retina.
  2. Bai X.H., Acharya R., Bai Y.H., Murtagh J.J.
    Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
    Puhl H.L. III, Ikeda S.R., Aronstam R.S.
    Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas.
  7. Bienvenut W.V., Calvo F., Kolch W.
    Submitted (MAR-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 42-52 AND 159-166, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Cervix carcinoma.
  8. "Ca2+ signalling in K562 human erythroleukaemia cells: effect of dimethyl sulphoxide and role of G-proteins in thrombin- and thromboxane A2-activated pathways."
    Thomas C.P., Dunn M.J., Mattera R.
    Biochem. J. 312:151-158(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 244-337.
    Tissue: Hematopoietic.
  9. "RGS22, a novel testis-specific regulator of G-protein signaling involved in human and mouse spermiogenesis along with GNA12/13 subunits."
    Hu Y., Xing J., Chen L., Guo X., Du Y., Zhao C., Zhu Y., Lin M., Zhou Z., Sha J.
    Biol. Reprod. 79:1021-1029(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RGS22, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Testis.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Neurotensin receptor-1 inducible palmitoylation is required for efficient receptor-mediated mitogenic-signaling within structured membrane microdomains."
    Heakal Y., Woll M.P., Fox T., Seaton K., Levenson R., Kester M.
    Cancer Biol. Ther. 12:427-435(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NTSR1.
  12. "Site-specific analysis of protein S-acylation by resin-assisted capture."
    Forrester M.T., Hess D.T., Thompson J.W., Hultman R., Moseley M.A., Stamler J.S., Casey P.J.
    J. Lipid Res. 52:393-398(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PALMITOYLATION AT CYS-9 AND CYS-10.
  13. "A rude awakening--the perioperative sleep apnea epidemic."
    Memtsoudis S.G., Besculides M.C., Mazumdar M.
    N. Engl. J. Med. 368:2352-2353(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HYPOC2 CYS-60 AND TRP-211.
  14. Cited for: VARIANTS HHC2 GLN-135 AND ILE-200 DEL, VARIANTS HYPOC2 GLN-181 AND LEU-341, CHARACTERIZATION OF VARIANTS HHC2 GLN-135 AND ILE-200 DEL, CHARACTERIZATION OF VARIANTS HYPOC2 GLN-181 AND LEU-341.

Entry informationi

Entry nameiGNA11_HUMAN
AccessioniPrimary (citable) accession number: P29992
Secondary accession number(s): O15109, Q14350, Q6IB00
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: July 15, 1998
Last modified: October 29, 2014
This is version 145 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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

External Data

Dasty 3