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O43435

- TBX1_HUMAN

UniProt

O43435 - TBX1_HUMAN

Protein

T-box transcription factor TBX1

Gene

TBX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    Functioni

    Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi119 – 297179T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. protein dimerization activity Source: UniProtKB
    3. protein homodimerization activity Source: UniProtKB
    4. sequence-specific DNA binding Source: UniProtKB

    GO - Biological processi

    1. angiogenesis Source: UniProtKB
    2. anterior/posterior pattern specification Source: UniProtKB
    3. aorta morphogenesis Source: UniProtKB
    4. artery morphogenesis Source: UniProtKB
    5. blood vessel development Source: UniProtKB
    6. blood vessel morphogenesis Source: UniProtKB
    7. blood vessel remodeling Source: Ensembl
    8. cell fate specification Source: UniProtKB
    9. cell proliferation Source: UniProtKB
    10. cellular response to fibroblast growth factor stimulus Source: UniProtKB
    11. cellular response to retinoic acid Source: UniProtKB
    12. cochlea morphogenesis Source: UniProtKB
    13. coronary artery morphogenesis Source: UniProtKB
    14. determination of left/right symmetry Source: UniProtKB
    15. ear morphogenesis Source: UniProtKB
    16. embryonic cranial skeleton morphogenesis Source: UniProtKB
    17. embryonic viscerocranium morphogenesis Source: UniProtKB
    18. enamel mineralization Source: UniProtKB
    19. epithelial cell differentiation Source: UniProtKB
    20. face morphogenesis Source: UniProtKB
    21. heart development Source: UniProtKB
    22. heart morphogenesis Source: UniProtKB
    23. inner ear morphogenesis Source: UniProtKB
    24. lymph vessel development Source: UniProtKB
    25. mesenchymal cell apoptotic process Source: UniProtKB
    26. mesoderm development Source: UniProtKB
    27. middle ear morphogenesis Source: UniProtKB
    28. muscle cell fate commitment Source: UniProtKB
    29. muscle organ development Source: UniProtKB
    30. muscle organ morphogenesis Source: UniProtKB
    31. muscle tissue morphogenesis Source: UniProtKB
    32. negative regulation of cell differentiation Source: UniProtKB
    33. negative regulation of mesenchymal cell apoptotic process Source: UniProtKB
    34. neural crest cell migration Source: UniProtKB
    35. odontogenesis of dentin-containing tooth Source: UniProtKB
    36. otic vesicle morphogenesis Source: Ensembl
    37. outer ear morphogenesis Source: UniProtKB
    38. outflow tract morphogenesis Source: UniProtKB
    39. outflow tract septum morphogenesis Source: UniProtKB
    40. parathyroid gland development Source: UniProtKB
    41. pattern specification process Source: UniProtKB
    42. pharyngeal system development Source: UniProtKB
    43. positive regulation of cell proliferation Source: UniProtKB
    44. positive regulation of epithelial cell proliferation Source: UniProtKB
    45. positive regulation of MAPK cascade Source: UniProtKB
    46. positive regulation of mesenchymal cell proliferation Source: UniProtKB
    47. positive regulation of protein phosphorylation Source: UniProtKB
    48. positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
    49. positive regulation of tongue muscle cell differentiation Source: UniProtKB
    50. positive regulation of transcription, DNA-templated Source: UniProtKB
    51. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    52. regulation of organ morphogenesis Source: UniProtKB
    53. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    54. retinoic acid receptor signaling pathway Source: UniProtKB
    55. semicircular canal morphogenesis Source: UniProtKB
    56. sensory perception of sound Source: UniProtKB
    57. social behavior Source: UniProtKB
    58. soft palate development Source: UniProtKB
    59. thymus development Source: UniProtKB
    60. thyroid gland development Source: UniProtKB
    61. tongue morphogenesis Source: UniProtKB
    62. transcription, DNA-templated Source: UniProtKB-KW
    63. vagus nerve morphogenesis Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-box transcription factor TBX1
    Short name:
    T-box protein 1
    Alternative name(s):
    Testis-specific T-box protein
    Gene namesi
    Name:TBX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:11592. TBX1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.
    DiGeorge syndrome (DGS) [MIM:188400]: A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti310 – 3101G → S in DGS. 1 Publication
    Corresponds to variant rs41298838 [ dbSNP | Ensembl ].
    VAR_034545
    Velocardiofacial syndrome (VCFS) [MIM:192430]: A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti148 – 1481F → Y in CTHM and VCFS. 1 Publication
    Corresponds to variant rs28939675 [ dbSNP | Ensembl ].
    VAR_035025
    Natural varianti194 – 1941H → Q in VCFS. 1 Publication
    VAR_035026
    Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti148 – 1481F → Y in CTHM and VCFS. 1 Publication
    Corresponds to variant rs28939675 [ dbSNP | Ensembl ].
    VAR_035025

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi188400. phenotype.
    192430. phenotype.
    217095. phenotype.
    Orphaneti567. 22q11.2 deletion syndrome.
    1727. 22q11.2 microduplication syndrome.
    PharmGKBiPA36355.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 398398T-box transcription factor TBX1PRO_0000184423Add
    BLAST

    Proteomic databases

    MaxQBiO43435.
    PaxDbiO43435.
    PRIDEiO43435.

    PTM databases

    PhosphoSiteiO43435.

    Expressioni

    Gene expression databases

    ArrayExpressiO43435.
    BgeeiO43435.
    CleanExiHS_TBX1.
    GenevestigatoriO43435.

    Organism-specific databases

    HPAiHPA060863.

    Interactioni

    Subunit structurei

    Interacts with DSCR6.By similarity

    Protein-protein interaction databases

    BioGridi112762. 2 interactions.
    STRINGi9606.ENSP00000331791.

    Structurei

    Secondary structure

    1
    398
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi111 – 1144
    Helixi117 – 12610
    Beta strandi129 – 1313
    Beta strandi143 – 1497
    Beta strandi154 – 16512
    Beta strandi167 – 1737
    Turni174 – 1774
    Beta strandi178 – 1847
    Beta strandi200 – 2023
    Helixi203 – 2086
    Beta strandi211 – 2133
    Beta strandi217 – 2193
    Beta strandi236 – 24510
    Beta strandi260 – 2645
    Helixi266 – 2683
    Beta strandi270 – 2756
    Helixi279 – 28810
    Helixi290 – 2956

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4A04X-ray2.58A/B109-297[»]
    ProteinModelPortaliO43435.
    SMRiO43435. Positions 108-297.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi43 – 486Poly-Pro
    Compositional biasi54 – 574Poly-Ala
    Compositional biasi61 – 677Poly-Pro
    Compositional biasi94 – 996Poly-Ala

    Sequence similaritiesi

    Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG272513.
    HOGENOMiHOG000286000.
    HOVERGENiHBG014448.
    KOiK10175.
    OMAiANMYSAT.
    OrthoDBiEOG7GN2PM.
    PhylomeDBiO43435.
    TreeFamiTF106341.

    Family and domain databases

    Gene3Di2.60.40.820. 1 hit.
    InterProiIPR008967. p53-like_TF_DNA-bd.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view]
    PANTHERiPTHR11267. PTHR11267. 1 hit.
    PfamiPF00907. T-box. 1 hit.
    [Graphical view]
    PRINTSiPR00937. TBOX.
    SMARTiSM00425. TBOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF49417. SSF49417. 1 hit.
    PROSITEiPS01283. TBOX_1. 1 hit.
    PS01264. TBOX_2. 1 hit.
    PS50252. TBOX_3. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: O43435-1) [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

    MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY    50
    DPCAAAAPGA PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP 100
    VKKNAKVAGV SVQLEMKALW DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM 150
    DPMADYMLLM DFVPVDDKRY RYAFHSSSWL VAGKADPATP GRVHYHPDSP 200
    AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR FHVVYVDPRK 250
    DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP 300
    EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGGHV LKDKEVKAET 350
    SRNTPEREVE LLRDAGGCVN LGLPCPAECQ PFNTQGLVAG RTAGDRLC 398
    Length:398
    Mass (Da):43,133
    Last modified:June 1, 1998 - v1
    Checksum:iFAF0F3FA0CDC6176
    GO
    Isoform B (identifier: O43435-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         338-398: GHVLKDKEVK...AGRTAGDRLC → LVTEGSGLQPGLLDVLLKPPSKKSESLRPPHCKDT

    Show »
    Length:372
    Mass (Da):40,353
    Checksum:iDC6B41E913C8BB25
    GO
    Isoform C (identifier: O43435-3) [UniParc]FASTAAdd to Basket

    Also known as: TBX1C

    The sequence of this isoform differs from the canonical sequence as follows:
         337-398: GGHVLKDKEV...AGRTAGDRLC → DAAEARREFQ...PPGSYDYCPR

    Show »
    Length:495
    Mass (Da):52,666
    Checksum:iFB0C150FEA6155FC
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti148 – 1481F → Y in CTHM and VCFS. 1 Publication
    Corresponds to variant rs28939675 [ dbSNP | Ensembl ].
    VAR_035025
    Natural varianti194 – 1941H → Q in VCFS. 1 Publication
    VAR_035026
    Natural varianti310 – 3101G → S in DGS. 1 Publication
    Corresponds to variant rs41298838 [ dbSNP | Ensembl ].
    VAR_034545
    Natural varianti337 – 3371G → E in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036065
    Natural varianti350 – 3501T → M.
    Corresponds to variant rs4819522 [ dbSNP | Ensembl ].
    VAR_024657

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei337 – 39862GGHVL…GDRLC → DAAEARREFQRDAGGPAVLG DPAHPPQLLARVLSPSLPGA GGAGGLVPLPGAPGGRPSPP NPELRLEAPGASEPLHHHPY KYPAAAYDHYLGAKSRPAPY PLPGLRGHGYHPHAHPHHHH HPVSPAAAAAAAAAAAAAAA NMYSSAGAAPPGSYDYCPR in isoform C. 1 PublicationVSP_007423Add
    BLAST
    Alternative sequencei338 – 39861GHVLK…GDRLC → LVTEGSGLQPGLLDVLLKPP SKKSESLRPPHCKDT in isoform B. 1 PublicationVSP_006383Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF012130 mRNA. Translation: AAB94018.1.
    AF012131 mRNA. Translation: AAB94019.1.
    AF373867 mRNA. Translation: AAK58955.1.
    FJ515849 Genomic DNA. Translation: ACS13741.1.
    FJ515849 Genomic DNA. Translation: ACS13742.1.
    CH471176 Genomic DNA. Translation: EAX03024.1.
    CH471176 Genomic DNA. Translation: EAX03025.1.
    CCDSiCCDS13765.1. [O43435-2]
    CCDS13766.1. [O43435-1]
    CCDS13767.1. [O43435-3]
    RefSeqiNP_005983.1. NM_005992.1. [O43435-2]
    NP_542377.1. NM_080646.1. [O43435-1]
    NP_542378.1. NM_080647.1. [O43435-3]
    XP_006724375.1. XM_006724312.1. [O43435-3]
    UniGeneiHs.173984.

    Genome annotation databases

    EnsembliENST00000329705; ENSP00000331176; ENSG00000184058. [O43435-1]
    ENST00000332710; ENSP00000331791; ENSG00000184058. [O43435-3]
    ENST00000359500; ENSP00000352483; ENSG00000184058. [O43435-2]
    GeneIDi6899.
    KEGGihsa:6899.
    UCSCiuc002zqb.3. human. [O43435-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF012130 mRNA. Translation: AAB94018.1 .
    AF012131 mRNA. Translation: AAB94019.1 .
    AF373867 mRNA. Translation: AAK58955.1 .
    FJ515849 Genomic DNA. Translation: ACS13741.1 .
    FJ515849 Genomic DNA. Translation: ACS13742.1 .
    CH471176 Genomic DNA. Translation: EAX03024.1 .
    CH471176 Genomic DNA. Translation: EAX03025.1 .
    CCDSi CCDS13765.1. [O43435-2 ]
    CCDS13766.1. [O43435-1 ]
    CCDS13767.1. [O43435-3 ]
    RefSeqi NP_005983.1. NM_005992.1. [O43435-2 ]
    NP_542377.1. NM_080646.1. [O43435-1 ]
    NP_542378.1. NM_080647.1. [O43435-3 ]
    XP_006724375.1. XM_006724312.1. [O43435-3 ]
    UniGenei Hs.173984.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4A04 X-ray 2.58 A/B 109-297 [» ]
    ProteinModelPortali O43435.
    SMRi O43435. Positions 108-297.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112762. 2 interactions.
    STRINGi 9606.ENSP00000331791.

    PTM databases

    PhosphoSitei O43435.

    Proteomic databases

    MaxQBi O43435.
    PaxDbi O43435.
    PRIDEi O43435.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329705 ; ENSP00000331176 ; ENSG00000184058 . [O43435-1 ]
    ENST00000332710 ; ENSP00000331791 ; ENSG00000184058 . [O43435-3 ]
    ENST00000359500 ; ENSP00000352483 ; ENSG00000184058 . [O43435-2 ]
    GeneIDi 6899.
    KEGGi hsa:6899.
    UCSCi uc002zqb.3. human. [O43435-1 ]

    Organism-specific databases

    CTDi 6899.
    GeneCardsi GC22P019747.
    GeneReviewsi TBX1.
    HGNCi HGNC:11592. TBX1.
    HPAi HPA060863.
    MIMi 188400. phenotype.
    192430. phenotype.
    217095. phenotype.
    602054. gene.
    neXtProti NX_O43435.
    Orphaneti 567. 22q11.2 deletion syndrome.
    1727. 22q11.2 microduplication syndrome.
    PharmGKBi PA36355.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG272513.
    HOGENOMi HOG000286000.
    HOVERGENi HBG014448.
    KOi K10175.
    OMAi ANMYSAT.
    OrthoDBi EOG7GN2PM.
    PhylomeDBi O43435.
    TreeFami TF106341.

    Miscellaneous databases

    GenomeRNAii 6899.
    NextBioi 26967.
    PROi O43435.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43435.
    Bgeei O43435.
    CleanExi HS_TBX1.
    Genevestigatori O43435.

    Family and domain databases

    Gene3Di 2.60.40.820. 1 hit.
    InterProi IPR008967. p53-like_TF_DNA-bd.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view ]
    PANTHERi PTHR11267. PTHR11267. 1 hit.
    Pfami PF00907. T-box. 1 hit.
    [Graphical view ]
    PRINTSi PR00937. TBOX.
    SMARTi SM00425. TBOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49417. SSF49417. 1 hit.
    PROSITEi PS01283. TBOX_1. 1 hit.
    PS01264. TBOX_2. 1 hit.
    PS50252. TBOX_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene."
      Chieffo C., Garvey N., Gong W., Roe B., Zhang G., Silver L., Emanuel B.S., Budarf M.L.
      Genomics 43:267-277(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B).
      Tissue: Skeletal muscle and Testis.
    2. "Mutation analysis of TBX1 in 105 patients."
      Gong W., Gottlieb S., Budarf M.L.
      Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM C).
    3. NHLBI resequencing and genotyping service (RS&G)
      Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: VARIANT CTMH/VCFS TYR-148, VARIANT DGS SER-310.
    6. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-337.
    7. "Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions."
      Zweier C., Sticht H., Aydin-Yaylagul I., Campbell C.E., Rauch A.
      Am. J. Hum. Genet. 80:510-517(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VCFS GLN-194.

    Entry informationi

    Entry nameiTBX1_HUMAN
    AccessioniPrimary (citable) accession number: O43435
    Secondary accession number(s): C6G493
    , C6G494, O43436, Q96RJ2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: June 1, 1998
    Last modified: October 1, 2014
    This is version 131 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 22
      Human chromosome 22: 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

    External Data

    Dasty 3