SMC5
Structural maintenance of chromosomes protein 5
Also known as: KIAA0594, SMC5_HUMAN, SMC5L1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IY18
- Gene
- SMC5
- Ensembl
- ENSG00000198887
- Chromosome
- 9
- Canonical length
- 1101 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nuclear speckles
OverviewNCBI Gene
Enables DNA secondary structure binding activity. Involved in several processes, including DNA recombination; negative regulation by host of viral genome replication; and positive regulation of cell cycle process. Located in cell junction; chromosome; and nuclear body. Part of Smc5-Smc6 complex. Is active in nucleus. Implicated in mosaic variegated aneuploidy syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
1101 residues, UniProt reviewed canonical sequence.
>Q8IY18|SMC5
1 MATPSKKTST PSPQPSKRAL PRDPSSEVPS KRKNSAPQLP LLQSSGPFVE GSIVRISMEN
61 FLTYDICEVS PGPHLNMIVG ANGTGKSSIV CAICLGLAGK PAFMGRADKV GFFVKRGCSR
121 GMVEIELFRA SGNLVITREI DVAKNQSFWF INKKSTTQKI VEEKVAALNI QVGNLCQFLP
181 QDKVGEFAKL SKIELLEATE KSIGPPEMHK YHCELKNLRE KEKQLETSCK EKTEYLQKMV
241 QRNERYKQDV ERFYERKRHL DLIEMLEAKR PWVEYENVRQ EYEEVKLVRD RVKEEVRKLK
301 EGQIPVTCRI EEMENERHNL EARIKEKATD IKEASQKCKQ KQDVIERKDK HIEELQQALI
361 VKQNEELDRQ RRIGNTRKMI EDLQNELKTT ENCENLQPQI DAITNDLRRI QDEKALCEGE
421 IIDKRRERET LEKEKKSVDD HIVRFDNLMN QKEDKLRQRF RDTYDAVLWL RNNRDKFKQR
481 VCEPIMLTIN MKDNKNAKYI ENHIPSNDLR AFVFESQEDM EVFLKEVRDN KKLRVNAVIA
541 PKSSYADKAP SRSLNELKQY GFFSYLRELF DAPDPVMSYL CCQYHIHEVP VGTEKTRERI
601 ERVIQETRLK QIYTAEEKYV VKTSFYSNKV ISSNTSLKVA QFLTVTVDLE QRRHLEEQLK
661 EIHRKLQAVD SGLIALRETS KHLEHKDNEL RQKKKELLER KTKKRQLEQK ISSKLGSLKL
721 MEQDTCNLEE EERKASTKIK EINVQKAKLV TELTNLIKIC TSLHIQKVDL ILQNTTVISE
781 KNKLESDYMA ASSQLRLTEQ HFIELDENRQ RLLQKCKELM KRARQVCNLG AEQTLPQEYQ
841 TQVPTIPNGH NSSLPMVFQD LPNTLDEIDA LLTEERSRAS CFTGLNPTIV QEYTKREEEI
901 EQLTEELKGK KVELDQYREN ISQVKERWLN PLKELVEKIN EKFSNFFSSM QCAGEVDLHT
961 ENEEDYDKYG IRIRVKFRSS TQLHELTPHH QSGGERSVST MLYLMALQEL NRCPFRVVDE
1021 INQGMDPINE RRVFEMVVNT ACKENTSQYF FITPKLLQNL PYSEKMTVLF VYNGPHMLEP
1081 NTWNLKAFQR RRRRITFTQP SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SMC5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 25 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 25 nTPM
- ovary: 23 nTPM
- pancreas: 18 nTPM
- lymph node: 17 nTPM
- thymus: 17 nTPM
- salivary gland: 16 nTPM
Single-cell type
- salivary myoepithelial cells: 475 nCPM
- urothelial cells: 381 nCPM
- endometrial luminal cells: 379 nCPM
- salivary acinar cells: 377 nCPM
- pancreatic duct cells: 328 nCPM
- endometrial glandular cells: 318 nCPM
Immune cell
- basophil: 14 nTPM
- eosinophil: 10 nTPM
- plasmacytoid DC: 8.7 nTPM
- gdT-cell: 8.5 nTPM
- memory B-cell: 8.4 nTPM
- T-reg: 8.4 nTPM
Brain region
- cerebellum: 25 nTPM
- choroid plexus: 23 nTPM
- white matter: 19 nTPM
- hypothalamus: 17 nTPM
- midbrain: 16 nTPM
- medulla oblongata: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SMC5.
Disease | AllUniProt
Conditions SMC5 is implicated in, by any mechanism.
- Atelis syndrome 2 (ATELS2) MIM:620185
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 159 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Atelis syndrome 2
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.49
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.08
- DepMap mean gene effect
- -0.75
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell division
- cellular senescence
- chromatin looping
- chromosome condensation
- chromosome segregation
- DNA damage response
- double-strand break repair via homologous recombination
- host-mediated suppression of viral genome replication
- mitotic cell cycle phase transition
- positive regulation of chromosome segregation
- positive regulation of maintenance of mitotic sister chromatid cohesion
- protein localization to chromosome, centromeric region
- protein sumoylation
- regulation of telomere maintenance
- stem cell population maintenance
- telomere maintenance via recombination
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SMC5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SMC5 as an antibody target. Whether an autoantibody or antibody against SMC5 could matter depends on whether native SMC5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SMC5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SMC5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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