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Homeobox protein SIX1

From Wikipedia, the free encyclopedia
(Redirected fromSIX1)
Protein-coding gene in humans

SIX1
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

4EGC

Identifiers
AliasesSIX1, BOS3, DFNA23, TIP39, SIX homeobox 1
External IDsOMIM:601205;MGI:102780;HomoloGene:4360;GeneCards:SIX1;OMA:SIX1 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for SIX1
Genomic location for SIX1
Band14q23.1Start60,643,421bp[1]
End60,658,259bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for SIX1
Genomic location for SIX1
Band12 C3|12 30.34 cMStart73,086,789bp[2]
End73,100,661bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Skeletal muscle tissue of biceps brachii

  • parotid gland

  • Skeletal muscle tissue of rectus abdominis

  • bronchial epithelial cell

  • vastus lateralis muscle

  • body of tongue

  • muscle of thigh

  • olfactory zone of nasal mucosa

  • triceps brachii muscle

  • palpebral conjunctiva
Top expressed in
  • lumbar spinal ganglion

  • extensor digitorum longus muscle

  • plantaris muscle

  • muscle of thigh

  • parotid gland

  • lacrimal gland

  • saccule

  • otic vesicle

  • soleus muscle

  • triceps brachii muscle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6495

20471

Ensembl

ENSG00000126778

ENSMUSG00000051367

UniProt

Q15475

Q62231

RefSeq (mRNA)

NM_005982

NM_009189

RefSeq (protein)

NP_005973

NP_033215

Location (UCSC)Chr 14: 60.64 – 60.66 MbChr 12: 73.09 – 73.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein SIX1 (Sine oculis homeobox homolog 1) is aprotein that in humans is encoded by theSIX1gene.[5][6][7]

Function

[edit]

The vertebrate SIX genes are homologs of the Drosophila 'sine oculis' (so) gene, which is expressed primarily in the developing visual system of the fly. Members of the SIX gene family encode proteins that are characterized by a divergent DNA-bindinghomeodomain and an upstream SIX domain, which may be involved both in determining DNA-binding specificity and in mediating protein–protein interactions. Genes in the SIX family have been shown to play roles in vertebrate and insect development or have been implicated in maintenance of the differentiated state of tissues.[supplied by OMIM][7]

Interactions

[edit]

SIX1 has been shown tointeract withEYA1,[8] DACH, GRO andMDFI.[9]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000126778Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000051367Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Boucher CA, Carey N, Edwards YH, Siciliano MJ, Johnson KJ (April 1996). "Cloning of the human SIX1 gene and its assignment to chromosome 14".Genomics.33 (1):140–2.doi:10.1006/geno.1996.0172.PMID 8617500.
  6. ^Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F (May 2004)."SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes".Proceedings of the National Academy of Sciences of the United States of America.101 (21):8090–5.Bibcode:2004PNAS..101.8090R.doi:10.1073/pnas.0308475101.PMC 419562.PMID 15141091.
  7. ^ab"Entrez Gene: SIX1 sine oculis homeobox homolog 1 (Drosophila)".
  8. ^Buller C, Xu X, Marquis V, Schwanke R, Xu PX (November 2001)."Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome".Human Molecular Genetics.10 (24):2775–81.doi:10.1093/hmg/10.24.2775.PMID 11734542.
  9. ^Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J,Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein–protein interaction network".Nature.437 (7062):1173–8.Bibcode:2005Natur.437.1173R.doi:10.1038/nature04209.PMID 16189514.S2CID 4427026.

Further reading

[edit]
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous


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