P56539 (CAV3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 111.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Caveolin-3 Alternative name(s): M-caveolin | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 151 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress. |
| Subunit structure | Homooligomer. Interacts with DLG1 and KCNA5; forms a ternary complex By similarity. Interacts with TRIM72 By similarity. Interacts with MUSK; may regulate MUSK signaling By similarity. Interacts with DAG1 (via its C-terminal); the interaction prevents binding of DAG1 with DMD. Interacts with DYSF. Ref.5 Ref.6 |
| Subcellular location | Golgi apparatus membrane; Peripheral membrane protein By similarity. Cell membrane; Peripheral membrane protein By similarity. Membrane › caveola; Peripheral membrane protein By similarity. Note: Potential hairpin-like structure in the membrane. Membrane protein of caveolae By similarity. |
| Tissue specificity | Expressed predominantly in muscle. Ref.2 |
| Involvement in disease | Defects in CAV3 are the cause of limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]. LGMD1C is a myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. LGMD1C inheritance can be autosomal dominant or recessive. Ref.1 Ref.6 Ref.7 Ref.16 Ref.18 Ref.22 Ref.24 Defects in CAV3 are a cause of hyperCKmia (HYPCK) [MIM:123320]. It is a disease characterized by persistent elevated levels of serum creatine kinase without muscle weakness. Ref.8 Ref.12 Ref.19 Ref.21 Ref.24 Defects in CAV3 are a cause of rippling muscle disease (RMD) [MIM:606072]. RMD is a rare disorder characterized by mechanically triggered contractions of skeletal muscle. In RMD, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. Ref.10 Ref.11 Ref.16 Ref.17 Ref.23 Ref.25 Defects in CAV3 are a cause of familial hypertrophic cardiomyopathy (CMH) [MIM:192600]; also designated FHC or HCM. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Ref.20 Defects in CAV3 are the cause of long QT syndrome type 9 (LQT9) [MIM:611818]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. They can present with a sentinel event of sudden cardiac death in infancy. Ref.26 Ref.27 Defects in CAV3 can be a cause of sudden infant death syndrome (SIDS) [MIM:272120]. SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Long QT syndromes-associated mutations can be responsible for some SIDS cases. Defects in CAV3 are the cause of myopathy distal Tateyama type (MPDT) [MIM:614321]. A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet. Ref.14 Ref.24 |
| Sequence similarities | Belongs to the caveolin family. |
| Caution | It is uncertain whether Met-1 or Met-2 is the initiator. |
| Sequence caution | The sequence AAC14931.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 151 | 151 | Caveolin-3 | PRO_0000144140 | |||||
Regions | |||||||||
| Topological domain | 1 – 83 | 83 | Cytoplasmic Potential | ||||||
| Intramembrane | 84 – 104 | 21 | Helical; Potential | ||||||
| Topological domain | 105 – 151 | 47 | Cytoplasmic Potential | ||||||
| Region | 64 – 114 | 51 | Required for interaction with DAG1 | ||||||
Natural variations | |||||||||
| Natural variant | 14 | 1 | V → L in SIDS. Ref.27 | VAR_043694 | |||||
| Natural variant | 27 | 1 | R → Q in HYPCK, RMD, LGMD1C and MPDT. Ref.8 Ref.10 Ref.11 Ref.14 Ref.18 Ref.24 | VAR_011512 | |||||
| Natural variant | 28 | 1 | D → E in RMD and LGMD1C. Ref.16 | VAR_015374 | |||||
| Natural variant | 29 | 1 | P → L in HYPCK. Ref.12 | VAR_029540 | |||||
| Natural variant | 33 | 1 | N → K in LGMD1C and MPDT. Ref.22 Ref.24 | VAR_021016 | |||||
| Natural variant | 44 | 1 | V → E in LGMD1C. Ref.22 | VAR_021017 | |||||
| Natural variant | 46 | 1 | A → T in LGMD1C and RMD; decreased surface expression of the CAV3 protein. Ref.7 Ref.10 Ref.24 | VAR_011513 | |||||
| Natural variant | 46 | 1 | A → V in RMD. Ref.10 | VAR_011514 | |||||
| Natural variant | 53 | 1 | S → G in RMD. Ref.25 | VAR_029541 | |||||
| Natural variant | 56 | 1 | G → S. Ref.3 Ref.9 Ref.26 | VAR_029542 | |||||
| Natural variant | 57 | 1 | V → M in HYPCK. Ref.21 | VAR_010742 | |||||
| Natural variant | 61 | 1 | S → R in a patient with mild proximal myopathy. Ref.24 | VAR_026696 | |||||
| Natural variant | 64 – 66 | 3 | Missing in LGMD1C. | VAR_001402 | |||||
| Natural variant | 64 | 1 | T → P in LGMD1C. Ref.6 | VAR_021018 | |||||
| Natural variant | 64 | 1 | T → S in CMH. Ref.20 | VAR_029543 | |||||
| Natural variant | 72 | 1 | C → W. Ref.3 Ref.9 Ref.26 | VAR_010743 | |||||
| Natural variant | 78 | 1 | T → M in LQT9 and SIDS. Ref.26 Ref.27 | VAR_043695 | |||||
| Natural variant | 79 | 1 | L → R in LQT9 and SIDS. Ref.27 | VAR_043696 | |||||
| Natural variant | 85 | 1 | A → T in LQT9. Ref.26 | VAR_043697 | |||||
| Natural variant | 87 | 1 | L → P in RMD. Ref.17 Corresponds to variant rs28936685 [ dbSNP | Ensembl ]. | VAR_016207 | |||||
| Natural variant | 93 | 1 | A → T in RMD. Ref.17 Ref.23 Corresponds to variant rs28936686 [ dbSNP | Ensembl ]. | VAR_016208 | |||||
| Natural variant | 97 | 1 | F → C in LQT9; increase in late sodium current. Ref.26 | VAR_043698 | |||||
| Natural variant | 97 | 1 | Missing in HYPCK. | VAR_029544 | |||||
| Natural variant | 105 | 1 | P → L in LGMD1C and RMD. Ref.1 Ref.10 | VAR_001403 | |||||
| Natural variant | 126 | 1 | R → H. Ref.9 | VAR_029545 | |||||
| Natural variant | 141 | 1 | S → R in LQT9; increase in late sodium current. Ref.26 | VAR_043699 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy." Minetti C., Sotgia F., Bruno C., Scartezzini P., Broda P., Bado M., Masetti E., Mazzocco M., Egeo A., Donati M.A., Volonte D., Galbiati F., Cordone G., Bricarelli F.D., Lisanti M.P., Zara F. Nat. Genet. 18:365-368(1998) [PubMed: 9537420] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LGMD1C 64-THR--THR-66 DEL AND LEU-105. |
| [2] | "Molecular cloning of human caveolin 3." Biederer C., Ries S., Drobnik W., Schmitz G. Biochim. Biophys. Acta 1406:5-9(1998) [PubMed: 9545514] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Skeletal muscle. |
| [3] | "Caveolin-3 in muscular dystrophy." McNally E.M., de Sa Moreira E., Duggan D.J., Bonnemann C.G., Lisanti M.P., Lidov H.G.W., Vainzof M., Passos-Bueno M.R., Hoffman E.P., Zatz M., Kunkel L.M. Hum. Mol. Genet. 7:871-877(1998) [PubMed: 9536092] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS SER-56 AND TRP-72. |
| [4] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [5] | "Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members." Sotgia F., Lee J.K., Das K., Bedford M., Petrucci T.C., Macioce P., Sargiacomo M., Bricarelli F.D., Minetti C., Sudol M., Lisanti M.P. J. Biol. Chem. 275:38048-38058(2000) [PubMed: 10988290] [Abstract] Cited for: INTERACTION WITH DAG1. |
| [6] | "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle." Matsuda C., Hayashi Y.K., Ogawa M., Aoki M., Murayama K., Nishino I., Nonaka I., Arahata K., Brown R.H. Jr. Hum. Mol. Genet. 10:1761-1766(2001) [PubMed: 11532985] [Abstract] Cited for: INTERACTION WITH DYSF, VARIANT LGMD1C PRO-64. |
| [7] | "Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy." Herrmann R., Straub V., Blank M., Kutzick C., Franke N., Jacob E.N., Lenard H.-G., Kroger S., Voit T. Hum. Mol. Genet. 9:2335-2340(2000) [PubMed: 11001938] [Abstract] Cited for: VARIANT LGMD1C THR-46. |
| [8] | "Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia." Carbone I., Bruno C., Sotgia F., Bado M., Broda P., Masetti E., Panella A., Zara F., Bricarelli F.D., Cordone G., Lisanti M.P., Minetti C. Neurology 54:1373-1376(2000) [PubMed: 10746614] [Abstract] Cited for: VARIANT HYPCK GLN-27. |
| [9] | "Mutations in the caveolin-3 gene: when are they pathogenic?" de Paula F., Vainzof M., Bernardino A.L.F., McNally E., Kunkel L.M., Zatz M. Am. J. Med. Genet. 99:303-307(2001) [PubMed: 11251997] [Abstract] Cited for: VARIANTS SER-56; TRP-72 AND HIS-126. |
| [10] | "Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease." Betz R.C., Schoser B.G.H., Kasper D., Ricker K., Ramirez A., Stein V., Torbergsen T., Lee Y.-A., Nothen M.M., Wienker T.F., Malin J.-P., Propping P., Reis A., Mortier W., Jentsch T.J., Vorgerd M., Kubisch C. Nat. Genet. 28:218-219(2001) [PubMed: 11431690] [Abstract] Cited for: VARIANTS RMD GLN-27; THR-46; VAL-46 AND LEU-105, SURFACE EXPRESSION OF VARIANT RMD THR-46. |
| [11] | "A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation." Vorgerd M., Ricker K., Ziemssen F., Kress W., Goebel H.H., Nix W.A., Kubisch C., Schoser B.G.H., Mortier W. Neurology 57:2273-2277(2001) [PubMed: 11756609] [Abstract] Cited for: VARIANT RMD GLN-27. |
| [12] | "Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene." Merlini L., Carbone I., Capanni C., Sabatelli P., Tortorelli S., Sotgia F., Lisanti M.P., Bruno C., Minetti C. J. Neurol. Neurosurg. Psych. 73:65-67(2002) [PubMed: 12082049] [Abstract] Cited for: VARIANT HYPCK LEU-29. |
| [13] | Erratum Merlini L., Carbone I., Capanni C., Sabatelli P., Tortorelli S., Sotgia F., Lisanti M.P., Bruno C., Minetti C. J. Neurol. Neurosurg. Psych. 74:142-142(2003) |
| [14] | "Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy." Tateyama M., Aoki M., Nishino I., Hayashi Y.K., Sekiguchi S., Shiga Y., Takahashi T., Onodera Y., Haginoya K., Kobayashi K., Iinuma K., Nonaka I., Arahata K., Itoyama Y. Neurology 58:323-325(2002) [PubMed: 11805270] [Abstract] Cited for: VARIANT MPDT GLN-27. |
| [15] | Erratum Tateyama M., Aoki M., Nishino I., Hayashi Y.K., Sekiguchi S., Shiga Y., Takahashi T., Onodera Y., Haginoya K., Kobayashi K., Iinuma K., Nonaka I., Arahata K., Itoyama Y. Neurology 58:839-839(2002) |
| [16] | "Consequences of a novel caveolin-3 mutation in a large German family." Fischer D., Schroers A., Blumcke I., Urbach H., Zerres K., Mortier W., Vorgerd M., Schroder R. Ann. Neurol. 53:233-241(2003) [PubMed: 12557291] [Abstract] Cited for: VARIANT RMD GLU-28, VARIANT LGMD1C GLU-28. |
| [17] | "Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease." Kubisch C., Schoser B.G.H., von Duering M., Betz R.C., Goebel H.-H., Zahn S., Ehrbrecht A., Aasly J., Schroers A., Popovic N., Lochmueller H., Schroeder J.M., Bruening T., Malin J.-P., Fricke B., Meinck H.-M., Torbergsen T., Engels H., Voss B., Vorgerd M. Ann. Neurol. 53:512-520(2003) [PubMed: 12666119] [Abstract] Cited for: VARIANTS RMD PRO-87 AND THR-93. |
| [18] | "Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene." Figarella-Branger D., Pouget J., Bernard R., Krahn M., Fernandez C., Levy N., Pellissier J.F. Neurology 61:562-564(2003) [PubMed: 12939441] [Abstract] Cited for: VARIANT LGMD1C GLN-27. |
| [19] | "A CAV3 microdeletion differentially affects skeletal muscle and myocardium." Cagliani R., Bresolin N., Prelle A., Gallanti A., Fortunato F., Sironi M., Ciscato P., Fagiolari G., Bonato S., Galbiati S., Corti S., Lamperti C., Moggio M., Comi G.P. Neurology 61:1513-1519(2003) [PubMed: 14663034] [Abstract] Cited for: VARIANT HYPCK PHE-97 DEL. |
| [20] | "Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy." Hayashi T., Arimura T., Ueda K., Shibata H., Hohda S., Takahashi M., Hori H., Koga Y., Oka N., Imaizumi T., Yasunami M., Kimura A. Biochem. Biophys. Res. Commun. 313:178-184(2004) [PubMed: 14672715] [Abstract] Cited for: VARIANT CMH SER-64. |
| [21] | "A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia." Alias L., Gallano P., Moreno D., Pujol R., Martinez-Matos J.A., Baiget M., Ferrer I., Olive M. Neuromuscul. Disord. 14:321-324(2004) [PubMed: 15099591] [Abstract] Cited for: VARIANT HYPCK MET-57. |
| [22] | "Two novel CAV3 gene mutations in Japanese families." Sugie K., Murayama K., Noguchi S., Murakami N., Mochizuki M., Hayashi Y.K., Nonaka I., Nishino I. Neuromuscul. Disord. 14:810-814(2004) [PubMed: 15564037] [Abstract] Cited for: VARIANTS LGMD1C LYS-33 AND GLU-44. |
| [23] | "Autosomal recessive rippling muscle disease with homozygous CAV3 mutations." Kubisch C., Ketelsen U.-P., Goebel I., Omran H. Ann. Neurol. 57:303-304(2005) [PubMed: 15668980] [Abstract] Cited for: VARIANT RMD THR-93. |
| [24] | "Molecular and muscle pathology in a series of caveolinopathy patients." Fulizio L., Chiara-Nascimbeni A., Fanin M., Piluso G., Politano L., Nigro V., Angelini C. Hum. Mutat. 25:82-89(2005) [PubMed: 15580566] [Abstract] Cited for: VARIANT HYPCK GLN-27, VARIANT LGMD1C THR-46, VARIANT MPDT LYS-33, VARIANT MYOPATHY ARG-61. |
| [25] | "A new missense mutation in caveolin-3 gene causes rippling muscle disease." Dotti M.T., Malandrini A., Gambelli S., Salvadori C., De Stefano N., Federico A. J. Neurol. Sci. 243:61-64(2006) [PubMed: 16458928] [Abstract] Cited for: VARIANT RMD GLY-53. |
| [26] | "Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome." Vatta M., Ackerman M.J., Ye B., Makielski J.C., Ughanze E.E., Taylor E.W., Tester D.J., Balijepalli R.C., Foell J.D., Li Z., Kamp T.J., Towbin J.A. Circulation 114:2104-2112(2006) [PubMed: 17060380] [Abstract] Cited for: VARIANTS LQT9 MET-78; THR-85; CYS-97 AND ARG-141, VARIANTS SER-56 AND TRP-72, CHARACTERIZATION OF VARIANTS LQT9 CYS-97 AND ARG-141. |
| [27] | "Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3." Cronk L.B., Ye B., Kaku T., Tester D.J., Vatta M., Makielski J.C., Ackerman M.J. Heart Rhythm 4:161-166(2007) [PubMed: 17275750] [Abstract] Cited for: VARIANTS LQT9/SIDS LEU-14; MET-78 AND ARG-79. |
| + | Additional computationally mapped references. |
Web resources
| CAV3/LGMD1C Caveolin-3/LGMD-1C page |
| GeneReviews |
| Wikipedia Caveolin entry |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF043101 mRNA. Translation: AAC14931.1. Different initiation. Y14747 mRNA. Translation: CAA75042.1. AF036367, AF036366 Genomic DNA. Translation: AAC39758.1. AF036365 mRNA. Translation: AAC39756.1. BC069368 mRNA. Translation: AAH69368.1. BC102033 mRNA. Translation: AAI02034.1. BC102036 mRNA. Translation: AAI02037.1. BC102037 mRNA. Translation: AAI02038.1. |
| IPI | IPI00790433. |
| RefSeq | NP_001225.1. NM_001234.4. NP_203123.1. NM_033337.2. |
| UniGene | Hs.98303. |
3D structure databases | |
| ProteinModelPortal | P56539. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P56539. 2 interactions. |
| STRING | P56539. |
Polymorphism databases | |
| DMDM | 3182930. |
Proteomic databases | |
| PRIDE | P56539. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000343849; ENSP00000341940; ENSG00000182533. ENST00000397368; ENSP00000380525; ENSG00000182533. |
| GeneID | 859. |
| KEGG | hsa:859. |
| UCSC | uc003bra.1. human. |
Organism-specific databases | |
| CTD | 859. |
| GeneCards | GC03P008775. |
| H-InvDB | HIX0030704. |
| HGNC | HGNC:1529. CAV3. |
| HPA | CAB017518. CAB018557. |
| MIM | 123320. phenotype. 192600. phenotype. 272120. phenotype. 601253. gene. 606072. phenotype. 607801. phenotype. 611818. phenotype. 614321. phenotype. |
| neXtProt | NX_P56539. |
| Orphanet | 265. Autosomal dominant limb-girdle muscular dystrophy type 1C. 155. Familial isolated hypertrophic cardiomyopathy. 97238. Rippling muscle disease. 101016. Romano-Ward syndrome. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG12264. |
| GeneTree | ENSGT00390000014924. |
| HOGENOM | HBG443750. |
| HOVERGEN | HBG003422. |
| InParanoid | P56539. |
| OMA | EDIVKVD. |
| OrthoDB | EOG4DFPPG. |
| PhylomeDB | P56539. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | pdgfrapathway. PDGFR-alpha signaling pathway. |
Gene expression databases | |
| ArrayExpress | P56539. |
| Bgee | P56539. |
| CleanEx | HS_CAV3. |
| Genevestigator | P56539. |
| GermOnline | ENSG00000182533. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001612. Caveolin. IPR018361. Caveolin_CS. [Graphical view] |
| KO | K12959. |
| PANTHER | PTHR10844. Caveolin. 1 hit. |
| Pfam | PF01146. Caveolin. 1 hit. [Graphical view] |
| PROSITE | PS01210. CAVEOLIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 3566. |
| SOURCE | Search... |
Entry information
| Entry name | CAV3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P56539 Secondary accession number(s): Q3T1A4 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with