SMC1B
Structural maintenance of chromosomes protein 1B
Also known as: bK268H5, SMC1B_HUMAN, SMC1L2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NDV3
- Gene
- SMC1B
- Ensembl
- ENSG00000077935
- Chromosome
- 22
- Canonical length
- 1235 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
1235 residues, UniProt reviewed canonical sequence.
>Q8NDV3|SMC1B
1 MAHLELLLVE NFKSWRGRQV IGPFRRFTCI IGPNGSGKSN VMDALSFVMG EKIANLRVKN
61 IQELIHGAHI GKPISSSASV KIIYVEESGE EKTFARIIRG GCSEFRFNDN LVSRSVYIAE
121 LEKIGIIVKA QNCLVFQGTV ESISVKKPKE RTQFFEEIST SGELIGEYEE KKRKLQKAEE
181 DAQFNFNKKK NIAAERRQAK LEKEEAERYQ SLLEELKMNK IQLQLFQLYH NEKKIHLLNT
241 KLEHVNRDLS VKRESLSHHE NIVKARKKEH GMLTRQLQQT EKELKSVETL LNQKRPQYIK
301 AKENTSHHLK KLDVAKKSIK DSEKQCSKQE DDIKALETEL ADLDAAWRSF EKQIEEEILH
361 KKRDIELEAS QLDRYKELKE QVRKKVATMT QQLEKLQWEQ KTDEERLAFE KRRHGEVQGN
421 LKQIKEQIED HKKRIEKLEE YTKTCMDCLK EKKQQEETLV DEIEKTKSRM SEVNEELNLI
481 RSELQNAGID THEGKRQQKR AEVLEHLKRL YPDSVFGRLF DLCHPIHKKY QLAVTKVFGR
541 FITAIVVASE KVAKDCIRFL KEERAEPETF LALDYLDIKP INERLRELKG CKMVIDVIKT
601 QFPQLKKVIQ FVCGNGLVCE TMEEARHIAL SGPERQKTVA LDGTLFLKSG VISGGSSDLK
661 YKARCWDEKE LKNLRDRRSQ KIQELKGLMK TLRKETDLKQ IQTLIQGTQT RLKYSQNELE
721 MIKKKHLVAF YQEQSQLQSE LLNIESQCIM LSEGIKERQR RIKEFQEKID KVEDDIFQHF
781 CEEIGVENIR EFENKHVKRQ QEIDQKRLEF EKQKTRLNVQ LEYSRSHLKK KLNKINTLKE
841 TIQKGSEDID HLKKAEENCL QTVNELMAKQ QQLKDIRVTQ NSSAEKVQTQ IEEERKKFLA
901 VDREVGKLQK EVVSIQTSLE QKRLEKHNLL LDCKVQDIEI ILLSGSLDDI IEVEMGTEAE
961 STQATIDIYE KEEAFEIDYS SLKEDLKALQ SDQEIEAHLR LLLQQVASQE DILLKTAAPN
1021 LRALENLKTV RDKFQESTDA FEASRKEARL CRQEFEQVKK RRYDLFTQCF EHVSISIDQI
1081 YKKLCRNNSA QAFLSPENPE EPYLEGISYN CVAPGKRFMP MDNLSGGEKC VAALALLFAV
1141 HSFRPAPFFV LDEVDAALDN TNIGKVSSYI KEQTQDQFQM IVISLKEEFY SRADALIGIY
1201 PEYDDCMFSR VLTLDLSQYP DTEGQESSKR HGESRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SMC1B 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)
- 0.31
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- testis: 29 nTPM
- bone marrow: 0.2 nTPM
- lymph node: 0.2 nTPM
- tonsil: 0.2 nTPM
- appendix: 0.1 nTPM
- placenta: 0.1 nTPM
Single-cell type
- early primary spermatocytes: 1,349 nCPM
- differentiating spermatogonia: 511 nCPM
- late primary spermatocytes: 105 nCPM
- early spermatids: 101 nCPM
- undifferentiated spermatogonia: 89 nCPM
- oocytes: 37 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 0.7 nTPM
- choroid plexus: 0.6 nTPM
- amygdala: 0.4 nTPM
- basal ganglia: 0.4 nTPM
- cerebral cortex: 0.4 nTPM
- hippocampal formation: 0.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SMC1B.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 166 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Disease | ImmuneIEDB
Conditions an epitope on SMC1B was assayed in.
- hepatocellular carcinoma T cell
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)
- 0.36
- gnomAD pLI
- 0.1
- gnomAD missense Z
- 1.95
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SMC1B as an antibody target. Whether an autoantibody or antibody against SMC1B could matter depends on whether native SMC1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SMC1B 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 SMC1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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