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P08151 (GLI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 162. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein GLI1
Alternative name(s):
Glioma-associated oncogene
Oncogene GLI
Gene names
Name:GLI1
Synonyms:GLI
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1106 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts as a transcriptional activator. May regulate the transcription of specific genes during normal development. May play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling and thus cell proliferation and differentiation. Ref.6 Ref.7

Subunit structure

Interacts with KIF7 By similarity. Interacts with ZIC1; the interaction enhances transcription activation. Ref.6 Ref.7

Subcellular location

Cytoplasm. Nucleus. Note: Tethered in the cytoplasm by binding to SUFU. Activation and translocation to the nucleus is promoted by interaction with STK36. Phosphorylation by ULK3 may promote nuclear localization. Translocation to the nucleus is promoted by interaction with ZIC1. Ref.6 Ref.7 Ref.8

Tissue specificity

Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract. Ref.8

Induction

Amplified in glioblastoma cells.

Post-translational modification

Phosphorylated in vitro by ULK3. Ref.8

Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1. Ref.9

Sequence similarities

Belongs to the GLI C2H2-type zinc-finger protein family.

Contains 5 C2H2-type zinc fingers.

Ontologies

Keywords
   Biological processDifferentiation
Transcription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseProto-oncogene
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Molecular functionActivator
Developmental protein
   PTMAcetylation
Phosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcerebellar cortex morphogenesis

Inferred from electronic annotation. Source: Ensembl

digestive tract morphogenesis

Traceable author statement PubMed 11001584. Source: BHF-UCL

dorsal/ventral pattern formation

Inferred from electronic annotation. Source: Ensembl

epidermal cell differentiation

Inferred from direct assay PubMed 12165851. Source: UniProtKB

lung development

Inferred from electronic annotation. Source: Ensembl

negative regulation of canonical Wnt signaling pathway

Inferred from mutant phenotype PubMed 17035233. Source: UniProtKB

notochord regression

Inferred from electronic annotation. Source: Ensembl

osteoblast differentiation

Inferred from direct assay PubMed 12165851. Source: UniProtKB

pituitary gland development

Inferred from electronic annotation. Source: Ensembl

positive regulation of DNA replication

Inferred from direct assay PubMed 12165851. Source: UniProtKB

positive regulation of cell proliferation

Inferred from mutant phenotype PubMed 12165851. Source: UniProtKB

positive regulation of smoothened signaling pathway

Inferred from direct assay PubMed 17035233. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 12165851. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from direct assay Ref.7PubMed 12165851PubMed 17035233. Source: UniProtKB

proximal/distal pattern formation

Inferred from electronic annotation. Source: Ensembl

regulation of smoothened signaling pathway

Traceable author statement Ref.7. Source: UniProtKB

smoothened signaling pathway

Inferred from direct assay Ref.8. Source: UniProtKB

smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation

Inferred from electronic annotation. Source: Ensembl

spermatogenesis

Inferred from electronic annotation. Source: Ensembl

ventral midline development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 10504446Ref.7Ref.8. Source: UniProtKB

cytosol

Inferred from direct assay PubMed 18559511. Source: UniProtKB

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay Ref.6Ref.7Ref.8. Source: UniProtKB

primary cilium

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from direct assay PubMed 9118802. Source: MGI

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

chromatin binding

Inferred from electronic annotation. Source: Ensembl

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

transcription regulatory region DNA binding

Inferred from direct assay PubMed 17035233. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P08151-1)

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.
Isoform 2 (identifier: P08151-2)

The sequence of this isoform differs from the canonical sequence as follows:
     34-74: Missing.
Note: Undetectable in normal cells but highly expressed in cancer cells.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11061106Zinc finger protein GLI1
PRO_0000047197

Regions

Zinc finger235 – 26026C2H2-type 1
Zinc finger268 – 29528C2H2-type 2
Zinc finger301 – 32525C2H2-type 3
Zinc finger331 – 35626C2H2-type 4
Zinc finger362 – 38726C2H2-type 5
Region1 – 2020SNAG domain By similarity
Compositional bias1038 – 105518Asp/Glu-rich (acidic)

Amino acid modifications

Modified residue5181N6-acetyllysine Ref.9

Natural variations

Alternative sequence34 – 7441Missing in isoform 2.
VSP_042215
Natural variant2101P → A in a breast cancer sample; somatic mutation. Ref.12
VAR_035557
Natural variant5141T → I in a breast cancer sample; somatic mutation. Ref.12
VAR_035558
Natural variant8171E → Q in a breast cancer sample; somatic mutation. Ref.12
VAR_035559
Natural variant8841D → A. Ref.11
VAR_015114
Natural variant9331G → D. Ref.2 Ref.11
Corresponds to variant rs2228224 [ dbSNP | Ensembl ].
VAR_015115
Natural variant10121G → V.
Corresponds to variant rs2229300 [ dbSNP | Ensembl ].
VAR_052723
Natural variant11001E → Q. Ref.2 Ref.11
Corresponds to variant rs2228226 [ dbSNP | Ensembl ].
VAR_015116

Experimental info

Sequence conflict11061A → AS in ACX35434. Ref.3

Secondary structure

......................... 1106
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 1, 1988. Version 1.
Checksum: E29B11D1A6CD3D91

FASTA1,106117,904
        10         20         30         40         50         60 
MFNSMTPPPI SSYGEPCCLR PLPSQGAPSV GTEGLSGPPF CHQANLMSGP HSYGPARETN 

        70         80         90        100        110        120 
SCTEGPLFSS PRSAVKLTKK RALSISPLSD ASLDLQTVIR TSPSSLVAFI NSRCTSPGGS 

       130        140        150        160        170        180 
YGHLSIGTMS PSLGFPAQMN HQKGPSPSFG VQPCGPHDSA RGGMIPHPQS RGPFPTCQLK 

       190        200        210        220        230        240 
SELDMLVGKC REEPLEGDMS SPNSTGIQDP LLGMLDGRED LEREEKREPE SVYETDCRWD 

       250        260        270        280        290        300 
GCSQEFDSQE QLVHHINSEH IHGERKEFVC HWGGCSRELR PFKAQYMLVV HMRRHTGEKP 

       310        320        330        340        350        360 
HKCTFEGCRK SYSRLENLKT HLRSHTGEKP YMCEHEGCSK AFSNASDRAK HQNRTHSNEK 

       370        380        390        400        410        420 
PYVCKLPGCT KRYTDPSSLR KHVKTVHGPD AHVTKRHRGD GPLPRAPSIS TVEPKREREG 

       430        440        450        460        470        480 
GPIREESRLT VPEGAMKPQP SPGAQSSCSS DHSPAGSAAN TDSGVEMTGN AGGSTEDLSS 

       490        500        510        520        530        540 
LDEGPCIAGT GLSTLRRLEN LRLDQLHQLR PIGTRGLKLP SLSHTGTTVS RRVGPPVSLE 

       550        560        570        580        590        600 
RRSSSSSSIS SAYTVSRRSS LASPFPPGSP PENGASSLPG LMPAQHYLLR ARYASARGGG 

       610        620        630        640        650        660 
TSPTAASSLD RIGGLPMPPW RSRAEYPGYN PNAGVTRRAS DPAQAADRPA PARVQRFKSL 

       670        680        690        700        710        720 
GCVHTPPTVA GGGQNFDPYL PTSVYSPQPP SITENAAMDA RGLQEEPEVG TSMVGSGLNP 

       730        740        750        760        770        780 
YMDFPPTDTL GYGGPEGAAA EPYGARGPGS LPLGPGPPTN YGPNPCPQQA SYPDPTQETW 

       790        800        810        820        830        840 
GEFPSHSGLY PGPKALGGTY SQCPRLEHYG QVQVKPEQGC PVGSDSTGLA PCLNAHPSEG 

       850        860        870        880        890        900 
PPHPQPLFSH YPQPSPPQYL QSGPYTQPPP DYLPSEPRPC LDFDSPTHST GQLKAQLVCN 

       910        920        930        940        950        960 
YVQSQQELLW EGGGREDAPA QEPSYQSPKF LGGSQVSPSR AKAPVNTYGP GFGPNLPNHK 

       970        980        990       1000       1010       1020 
SGSYPTPSPC HENFVVGANR ASHRAAAPPR LLPPLPTCYG PLKVGGTNPS CGHPEVGRLG 

      1030       1040       1050       1060       1070       1080 
GGPALYPPPE GQVCNPLDSL DLDNTQLDFV AILDEPQGLS PPPSHDQRGS SGHTPPPSGP 

      1090       1100 
PNMAVGNMSV LLRSLPGETE FLNSSA 

« Hide

Isoform 2 [UniParc].

Checksum: BEDBBC5D160A6A1C
Show »

FASTA1,065113,676

References

« Hide 'large scale' references
[1]"The GLI gene is a member of the Kruppel family of zinc finger proteins."
Kinzler K.W., Ruppert J.M., Bigner S.H., Vogelstein B.
Nature 332:371-374(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Polymorphic variants of the human oncogene GLI1 function similarly."
Yoon J.W., Kent P., Clark A., Patterson J., Villavicencio E., Iannaccone P., Walterhouse D.
Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ASP-933 AND GLN-1100.
[3]"A novel splice variant of GLI1 that promotes glioblastoma cell migration and invasion."
Lo H.W., Zhu H., Cao X., Aldrich A., Ali-Osman F.
Cancer Res. 69:6790-6798(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
[4]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORM 1).
Tissue: Muscle.
[6]"Gli regulation by the opposing activities of fused and suppressor of fused."
Murone M., Luoh S.-L., Stone D., Li W., Gurney A., Armanini M., Grey C., Rosenthal A., de Sauvage F.J.
Nat. Cell Biol. 2:310-312(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH STK36 AND SUFU.
[7]"Physical and functional interactions between Zic and Gli proteins."
Koyabu Y., Nakata K., Mizugishi K., Aruga J., Mikoshiba K.
J. Biol. Chem. 276:6889-6892(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH ZIC1, SUBCELLULAR LOCATION.
[8]"Identification of a novel serine/threonine kinase ULK3 as a positive regulator of Hedgehog pathway."
Maloverjan A., Piirsoo M., Michelson P., Kogerman P., Osterlund T.
Exp. Cell Res. 316:627-637(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, PHOSPHORYLATION.
[9]"Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation."
Canettieri G., Di Marcotullio L., Greco A., Coni S., Antonucci L., Infante P., Pietrosanti L., De Smaele E., Ferretti E., Miele E., Pelloni M., De Simone G., Pedone E.M., Gallinari P., Giorgi A., Steinkuhler C., Vitagliano L., Pedone C. expand/collapse author list , Schinin M.E., Screpanti I., Gulino A.
Nat. Cell Biol. 12:132-142(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION AT LYS-518.
[10]"Crystal structure of a five-finger GLI-DNA complex: new perspectives on zinc fingers."
Pavletich N.P., Pabo C.O.
Science 261:1701-1707(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 234-388.
[11]"Identification of polymorphic variants of the GLI1 oncogene."
Wang X.Q., Chan N., Rothnagel J.A.
J. Invest. Dermatol. 115:328-329(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ALA-884; ASP-933 AND GLN-1100.
[12]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-210; ILE-514 AND GLN-817.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X07384 mRNA. Translation: CAA30297.1.
AF316573 Genomic DNA. Translation: AAM13391.1.
GQ890670 mRNA. Translation: ACX35434.1.
AC022506 Genomic DNA. No translation available.
BC013000 mRNA. Translation: AAH13000.1.
PIRTVHUGL. S00672.
RefSeqNP_001153517.1. NM_001160045.1.
NP_001161081.1. NM_001167609.1.
NP_005260.1. NM_005269.2.
UniGeneHs.632702.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2GLIX-ray2.60A234-388[»]
4BLBX-ray2.80E/F/G/H115-131[»]
4KMDX-ray1.70B112-128[»]
ProteinModelPortalP08151.
SMRP08151. Positions 196-388.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108997. 20 interactions.
DIPDIP-32536N.
IntActP08151. 14 interactions.
MINTMINT-189932.
STRING9606.ENSP00000228682.

Chemistry

BindingDBP08151.
ChEMBLCHEMBL5461.

PTM databases

PhosphoSiteP08151.

Polymorphism databases

DMDM121323.

Proteomic databases

PaxDbP08151.
PRIDEP08151.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000228682; ENSP00000228682; ENSG00000111087. [P08151-1]
ENST00000528467; ENSP00000434408; ENSG00000111087. [P08151-2]
ENST00000546141; ENSP00000441006; ENSG00000111087. [P08151-2]
GeneID2735.
KEGGhsa:2735.
UCSCuc001snx.3. human. [P08151-1]
uc021qzi.1. human. [P08151-2]

Organism-specific databases

CTD2735.
GeneCardsGC12P057853.
H-InvDBHIX0010767.
HGNCHGNC:4317. GLI1.
HPACAB009460.
HPA034585.
MIM165220. gene.
neXtProtNX_P08151.
PharmGKBPA28720.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000290688.
HOVERGENHBG080668.
InParanoidP08151.
KOK16797.
OMACPRLEHY.
OrthoDBEOG7X6KZ8.
PhylomeDBP08151.
TreeFamTF350216.

Enzyme and pathway databases

SignaLinkP08151.

Gene expression databases

ArrayExpressP08151.
BgeeP08151.
CleanExHS_GLI1.
GenevestigatorP08151.

Family and domain databases

Gene3D3.30.160.60. 5 hits.
InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 5 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP08151.
GeneWikiGLI1.
GenomeRNAi2735.
NextBio10780.
PROP08151.
SOURCESearch...

Entry information

Entry nameGLI1_HUMAN
AccessionPrimary (citable) accession number: P08151
Secondary accession number(s): D0EUY3, E9PQQ9, Q8TDN9
Entry history
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: April 16, 2014
This is version 162 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM