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| {{Infobox_gene}} | | {{Infobox gene |
| '''26S proteasome complex subunit DSS1''' is a [[protein]] that in humans is encoded by the ''SHFM1'' [[gene]].<ref name="pmid1895319">{{cite journal | vauthors = Roberts SH, Hughes HE, Davies SJ, Meredith AL | title = Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3 | journal = Journal of Medical Genetics | volume = 28 | issue = 7 | pages = 479–81 | date = July 1991 | pmid = 1895319 | pmc = 1016960 | doi = 10.1136/jmg.28.7.479 }}</ref><ref name="pmid8733122">{{cite journal | vauthors = Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC | title = Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development | journal = Human Molecular Genetics | volume = 5 | issue = 5 | pages = 571–9 | date = May 1996 | pmid = 8733122 | pmc = | doi = 10.1093/hmg/5.5.571 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7979| accessdate = }}</ref>
| | | name = SHFM1 |
| | | HGNCid = 10833 |
| | | symbol = SHFM1 |
| | | alternative_symbols = DSS1 |
| | | EntrezGene = 7979 |
| | | OMIM = 183850 |
| | | RefSeq = NM_003026 |
| | | UniProt = Q9Y3A5 |
| | | chromosome = 7 |
| | | arm = q |
| | | band = 21.3 |
| | | locussupplementarydata = |
| | }} |
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| == Function ==
| | '''SHFM1''' ('''Split hand/foot malformation type 1'''), also known as '''DSS1''' (26S proteasome complex subunit DSS1), is a [[protein-coding gene]] in humans. It encodes a small protein involved in several cellular processes including limb development, proteasome function, and DNA repair. |
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| The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle.<ref name="entrez"/> | | ==Function== |
| | The SHFM1 gene is located on [[chromosome 7]] at the locus 7q21.3, a region associated with [[split hand/foot malformation]] type 1 (SHFM1), a congenital [[limb malformation]] disorder. The protein product, DSS1, is a conserved subunit of the [[26S proteasome complex]] and is implicated in the degradation of ubiquitinated proteins. |
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| == Interactions ==
| | SHFM1 is also known to interact with the tumor suppressor protein [[BRCA2]], indicating a potential role in [[DNA repair]], particularly in [[homologous recombination]]. Moreover, it may be involved in [[cell cycle]] regulation and completion. |
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| SHFM1 has been shown to [[Protein-protein interaction|interact]] with [[BRCA2]].<ref name=pmid10373512>{{cite journal | vauthors = Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A | title = Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals | journal = Molecular and Cellular Biology | volume = 19 | issue = 7 | pages = 4633–42 | date = July 1999 | pmid = 10373512 | pmc = 84261 | doi=10.1128/mcb.19.7.4633}}</ref><ref name=pmid12228710>{{cite journal | vauthors = Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP | title = BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure | journal = Science | volume = 297 | issue = 5588 | pages = 1837–48 | date = September 2002 | pmid = 12228710 | doi = 10.1126/science.297.5588.1837 }}</ref> | | ==Clinical significance== |
| | SHFM1 is considered a candidate gene for the autosomal dominant form of [[split hand/foot malformation]] (SHFM), a condition characterized by the absence or underdevelopment of central digits of the hands and feet. Mutations or deletions in the SHFM1 locus may contribute to the phenotypic manifestations of SHFM type 1. |
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| == References == | | ==Interactions== |
| {{reflist}}
| | The SHFM1 protein has been shown to directly interact with: |
| | * '''[[BRCA2]]''' – a key player in [[DNA double-strand break repair]] via homologous recombination. |
| | This interaction supports the role of SHFM1 in maintaining genome stability. |
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| == Further reading == | | ==See also== |
| {{refbegin | 2}}
| | * [[Split hand/foot malformation]] |
| * {{cite journal | vauthors = Sharland M, Patton MA, Hill L | title = Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2 | journal = American Journal of Medical Genetics | volume = 39 | issue = 4 | pages = 413–4 | date = June 1991 | pmid = 1877619 | doi = 10.1002/ajmg.1320390410 }}
| | * [[BRCA2]] |
| * {{cite journal | vauthors = | title = Toward a complete human genome sequence | journal = Genome Research | volume = 8 | issue = 11 | pages = 1097–108 | date = November 1998 | pmid = 9847074 | doi = 10.1101/gr.8.11.1097 | doi-access = free }}
| | * [[26S proteasome]] |
| * {{cite journal | vauthors = Jäntti J, Lahdenranta J, Olkkonen VM, Söderlund H, Keränen S | title = SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 96 | issue = 3 | pages = 909–14 | date = February 1999 | pmid = 9927667 | pmc = 15324 | doi = 10.1073/pnas.96.3.909 }} | | * [[Homologous recombination]] |
| * {{cite journal | vauthors = Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A | title = Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals | journal = Molecular and Cellular Biology | volume = 19 | issue = 7 | pages = 4633–42 | date = July 1999 | pmid = 10373512 | pmc = 84261 | doi = 10.1128/mcb.19.7.4633}} | |
| * {{cite journal | vauthors = Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP | title = BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure | journal = Science | volume = 297 | issue = 5588 | pages = 1837–48 | date = September 2002 | pmid = 12228710 | doi = 10.1126/science.297.5588.1837 }}
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| * {{cite journal | vauthors = Sone T, Saeki Y, Toh-e A, Yokosawa H | title = Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae | journal = The Journal of Biological Chemistry | volume = 279 | issue = 27 | pages = 28807–16 | date = July 2004 | pmid = 15117943 | doi = 10.1074/jbc.M403165200 | doi-access = free }} | |
| * {{cite journal | vauthors = 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 | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = October 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }} | |
| * {{cite journal | vauthors = Baillat D, Hakimi MA, Näär AM, Shilatifard A, Cooch N, Shiekhattar R | title = Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II | journal = Cell | volume = 123 | issue = 2 | pages = 265–76 | date = October 2005 | pmid = 16239144 | doi = 10.1016/j.cell.2005.08.019 }}
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| * {{cite journal | vauthors = Kharrat N, Ayadi I, Rebaï A | title = Sample size computation for association studies using case-parents design | journal = Journal of Genetics | volume = 85 | issue = 3 | pages = 187–91 | date = December 2006 | pmid = 17406092 | doi = 10.1007/BF02935329 }}
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| {{refend}}
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| {{PDB Gallery|geneid=7979}} | | ==External links== |
| | * {{OMIM|183850|SHFM1}} |
| | * [https://www.genecards.org/cgi-bin/carddisp.pl?gene=SHFM1 GeneCards: SHFM1] |
| | * [https://www.ncbi.nlm.nih.gov/gene/7979 NCBI Gene: SHFM1] |
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| {{gene-7-stub}}
| | [[Category:Genes]] |
| {{dictionary-stub1}}
| | [[Category:Proteasome subunits]] |
| | [[Category:Human proteins]] |
| | [[Category:Developmental genes]] |
| | [[Category:Genes associated with limb abnormalities]] |
SHFM1
| Symbol
|
SHFM1
|
| HGNC ID
|
10833
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| Alternative symbols
|
DSS1
|
| Entrez Gene
|
7979
|
| OMIM
|
183850
|
| RefSeq
|
NM_003026
|
| UniProt
|
Q9Y3A5
|
| Chromosome
|
7q21.3
|
| Locus supplementary data
|
|
SHFM1 (Split hand/foot malformation type 1), also known as DSS1 (26S proteasome complex subunit DSS1), is a protein-coding gene in humans. It encodes a small protein involved in several cellular processes including limb development, proteasome function, and DNA repair.
Function[edit]
The SHFM1 gene is located on chromosome 7 at the locus 7q21.3, a region associated with split hand/foot malformation type 1 (SHFM1), a congenital limb malformation disorder. The protein product, DSS1, is a conserved subunit of the 26S proteasome complex and is implicated in the degradation of ubiquitinated proteins.
SHFM1 is also known to interact with the tumor suppressor protein BRCA2, indicating a potential role in DNA repair, particularly in homologous recombination. Moreover, it may be involved in cell cycle regulation and completion.
Clinical significance[edit]
SHFM1 is considered a candidate gene for the autosomal dominant form of split hand/foot malformation (SHFM), a condition characterized by the absence or underdevelopment of central digits of the hands and feet. Mutations or deletions in the SHFM1 locus may contribute to the phenotypic manifestations of SHFM type 1.
Interactions[edit]
The SHFM1 protein has been shown to directly interact with:
This interaction supports the role of SHFM1 in maintaining genome stability.
See also[edit]
External links[edit]
