UniProtKB - Q8NDV3 (SMC1B_HUMAN)
Structural maintenance of chromosomes protein 1B
SMC1B
Functioni
Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I (By similarity).
By similarityRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 32 – 39 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- ATP hydrolysis activity Source: InterPro
- DNA binding Source: GO_Central
GO - Biological processi
- meiotic cell cycle Source: UniProtKB-KW
- mitotic sister chromatid cohesion Source: InterPro
- sister chromatid cohesion Source: GO_Central
Keywordsi
Biological process | Cell cycle, Meiosis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8NDV3 |
Reactomei | R-HSA-1221632, Meiotic synapsis |
SignaLinki | Q8NDV3 |
Names & Taxonomyi
Protein namesi | Recommended name: Structural maintenance of chromosomes protein 1BShort name: SMC protein 1B Short name: SMC-1-beta Short name: SMC-1B |
Gene namesi | Name:SMC1B Synonyms:SMC1L2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11112, SMC1B |
MIMi | 608685, gene |
neXtProti | NX_Q8NDV3 |
VEuPathDBi | HostDB:ENSG00000077935 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Other locations
- Chromosome By similarity
- centromere By similarity
Note: Associates with chromatin. In prophase I stage of meiosis, localizes along the AE of synaptonemal complexes. In late-pachytene-diplotene, the bulk of protein dissociates from the chromosome arms probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. Remains chromatin associated at the centromeres up to metaphase II. At anaphase II, dissociates from centromeres, allowing chromosomes segregation (By similarity).By similarity
Cytosol
- cytosol Source: HPA
Nucleus
- lateral element Source: Ensembl
- nuclear meiotic cohesin complex Source: Ensembl
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Other locations
- chromosome, centromeric region Source: UniProtKB-SubCell
- cohesin complex Source: GO_Central
- meiotic cohesin complex Source: UniProtKB
Keywords - Cellular componenti
Centromere, Chromosome, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 27127 |
PharmGKBi | PA35962 |
Miscellaneous databases
Pharosi | Q8NDV3, Tbio |
Genetic variation databases
BioMutai | SMC1B |
DMDMi | 57015410 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000118993 | 1 – 1235 | Structural maintenance of chromosomes protein 1BAdd BLAST | 1235 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 648 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 713 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 1033 | N6-acetyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q8NDV3 |
jPOSTi | Q8NDV3 |
MassIVEi | Q8NDV3 |
MaxQBi | Q8NDV3 |
PaxDbi | Q8NDV3 |
PeptideAtlasi | Q8NDV3 |
PRIDEi | Q8NDV3 |
ProteomicsDBi | 73058 [Q8NDV3-1] 73059 [Q8NDV3-2] 73060 [Q8NDV3-3] |
PTM databases
iPTMneti | Q8NDV3 |
PhosphoSitePlusi | Q8NDV3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000077935, Expressed in testis and 21 other tissues |
Genevisiblei | Q8NDV3, HS |
Organism-specific databases
HPAi | ENSG00000077935, Tissue enriched (testis) |
Interactioni
Subunit structurei
Forms a heterodimer with SMC3.
Component of a meiosis-specific cohesin complex, probably composed of the SMC1B and SMC3 heterodimer attached via their SMC hinge domain, RAD21 (or its meiosis-specific related protein REC8), which link them, and STAG3, which interacts with RAD21 or REC8 (By similarity).
By similarityProtein-protein interaction databases
BioGRIDi | 118018, 9 interactors |
IntActi | Q8NDV3, 4 interactors |
STRINGi | 9606.ENSP00000350036 |
Miscellaneous databases
RNActi | Q8NDV3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 514 – 629 | SMC hingeAdd BLAST | 116 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 156 – 490 | Sequence analysisAdd BLAST | 335 | |
Coiled coili | 666 – 934 | Sequence analysisAdd BLAST | 269 | |
Coiled coili | 970 – 994 | Sequence analysisAdd BLAST | 25 | |
Coiled coili | 1022 – 1049 | Sequence analysisAdd BLAST | 28 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0018, Eukaryota |
HOGENOMi | CLU_001042_0_2_1 |
InParanoidi | Q8NDV3 |
OrthoDBi | 326079at2759 |
PhylomeDBi | Q8NDV3 |
TreeFami | TF101156 |
Family and domain databases
CDDi | cd03275, ABC_SMC1_euk, 2 hits |
Gene3Di | 3.40.50.300, 2 hits |
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR003395, RecF/RecN/SMC_N IPR024704, SMC IPR028468, Smc1_ABC IPR010935, SMC_hinge IPR036277, SMC_hinge_sf |
Pfami | View protein in Pfam PF06470, SMC_hinge, 1 hit PF02463, SMC_N, 1 hit |
PIRSFi | PIRSF005719, SMC, 1 hit |
SMARTi | View protein in SMART SM00968, SMC_hinge, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits SSF75553, SSF75553, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAHLELLLVE NFKSWRGRQV IGPFRRFTCI IGPNGSGKSN VMDALSFVMG
60 70 80 90 100
EKIANLRVKN IQELIHGAHI GKPISSSASV KIIYVEESGE EKTFARIIRG
110 120 130 140 150
GCSEFRFNDN LVSRSVYIAE LEKIGIIVKA QNCLVFQGTV ESISVKKPKE
160 170 180 190 200
RTQFFEEIST SGELIGEYEE KKRKLQKAEE DAQFNFNKKK NIAAERRQAK
210 220 230 240 250
LEKEEAERYQ SLLEELKMNK IQLQLFQLYH NEKKIHLLNT KLEHVNRDLS
260 270 280 290 300
VKRESLSHHE NIVKARKKEH GMLTRQLQQT EKELKSVETL LNQKRPQYIK
310 320 330 340 350
AKENTSHHLK KLDVAKKSIK DSEKQCSKQE DDIKALETEL ADLDAAWRSF
360 370 380 390 400
EKQIEEEILH KKRDIELEAS QLDRYKELKE QVRKKVATMT QQLEKLQWEQ
410 420 430 440 450
KTDEERLAFE KRRHGEVQGN LKQIKEQIED HKKRIEKLEE YTKTCMDCLK
460 470 480 490 500
EKKQQEETLV DEIEKTKSRM SEFNEELNLI RSELQNAGID THEGKRQQKR
510 520 530 540 550
AEVLEHLKRL YPDSVFGRLF DLCHPIHKKY QLAVTKVFGR FITAIVVASE
560 570 580 590 600
KVAKDCIRFL KEERAEPETF LALDYLDIKP INERLRELKG CKMVIDVIKT
610 620 630 640 650
QFPQLKKVIQ FVCGNGLVCE TMEEARHIAL SGPERQKTVA LDGTLFLKSG
660 670 680 690 700
VISGGSSDLK YKARCWDEKE LKNLRDRRSQ KIQELKGLMK TLRKETDLKQ
710 720 730 740 750
IQTLIQGTQT RLKYSQNELE MIKKKHLVAF YQEQSQLQSE LLNIESQCIM
760 770 780 790 800
LSEGIKERQR RIKEFQEKID KVEDDIFQHF CEEIGVENIR EFENKHVKRQ
810 820 830 840 850
QEIDQKRYFY KKMLTRLNVQ LEYSRSHLKK KLNKINTLKE TIQKGSEDID
860 870 880 890 900
HLKKAEENCL QTVNELMAKQ QQLKDIRVTQ NSSAEKVQTQ IEEERKKFLA
910 920 930 940 950
VDREVGKLQK EVVSIQTSLE QKRLEKHNLL LDCKVQDIEI ILLSGSLDDI
960 970 980 990 1000
IEVEMGTEAE STQATIDIYE KEEAFEIDYS SLKEDLKALQ SDQEIEAHLR
1010 1020 1030 1040 1050
LLLQQVASQE DILLKTAAPN LRALENLKTV RDKFQESTDA FEASRKEARL
1060 1070 1080 1090 1100
CRQEFEQVKK RRYDLFTQCF EHVSISIDQI YKKLCRNNSA QAFLSPENPE
1110 1120 1130 1140 1150
EPYLEGISYN CVAPGKRFMP MDNLSGGEKC VAALALLFAV HSFRPAPFFV
1160 1170 1180 1190 1200
LDEVDAALDN TNIGKVSSYI KEQTQDQFQM IVISLKEEFY SRADALIGIY
1210 1220 1230
PEYDDCMFSR VLTLDLSQYP DTEGQESSKR HGESR
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 99 | R → L in CAD43404 (PubMed:14660695).Curated | 1 | |
Sequence conflicti | 731 | Y → D in BAC86266 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 752 | S → G in BAC86266 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_045913 | 473 | F → V1 PublicationCorresponds to variant dbSNP:rs136603Ensembl. | 1 | |
Natural variantiVAR_057324 | 758 | R → Q. Corresponds to variant dbSNP:rs9614653Ensembl. | 1 | |
Natural variantiVAR_057325 | 1008 | S → A. Corresponds to variant dbSNP:rs16993928Ensembl. | 1 | |
Natural variantiVAR_045914 | 1050 | L → M2 PublicationsCorresponds to variant dbSNP:rs5764698Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_035027 | 808 – 814 | YFYKKML → LEFEKQK in isoform 2 and isoform 3. 2 Publications | 7 | |
Alternative sequenceiVSP_035028 | 1092 – 1165 | Missing in isoform 2. 1 PublicationAdd BLAST | 74 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ504806 mRNA Translation: CAD43404.2 AL008718 Genomic DNA No translation available. AL021391 Genomic DNA No translation available. BC126208 mRNA Translation: AAI26209.1 AK125736 mRNA Translation: BAC86266.1 Different initiation. |
CCDSi | CCDS43027.1 [Q8NDV3-3] CCDS74876.1 [Q8NDV3-2] |
RefSeqi | NP_001278430.1, NM_001291501.1 NP_683515.4, NM_148674.4 |
Genome annotation databases
Ensembli | ENST00000357450; ENSP00000350036; ENSG00000077935 ENST00000404354; ENSP00000385902; ENSG00000077935 |
GeneIDi | 27127 |
KEGGi | hsa:27127 |
MANE-Selecti | ENST00000357450.9; ENSP00000350036.4; NM_148674.5; NP_683515.4 |
UCSCi | uc003bgc.4, human [Q8NDV3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ504806 mRNA Translation: CAD43404.2 AL008718 Genomic DNA No translation available. AL021391 Genomic DNA No translation available. BC126208 mRNA Translation: AAI26209.1 AK125736 mRNA Translation: BAC86266.1 Different initiation. |
CCDSi | CCDS43027.1 [Q8NDV3-3] CCDS74876.1 [Q8NDV3-2] |
RefSeqi | NP_001278430.1, NM_001291501.1 NP_683515.4, NM_148674.4 |
3D structure databases
SMRi | Q8NDV3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 118018, 9 interactors |
IntActi | Q8NDV3, 4 interactors |
STRINGi | 9606.ENSP00000350036 |
PTM databases
iPTMneti | Q8NDV3 |
PhosphoSitePlusi | Q8NDV3 |
Genetic variation databases
BioMutai | SMC1B |
DMDMi | 57015410 |
Proteomic databases
EPDi | Q8NDV3 |
jPOSTi | Q8NDV3 |
MassIVEi | Q8NDV3 |
MaxQBi | Q8NDV3 |
PaxDbi | Q8NDV3 |
PeptideAtlasi | Q8NDV3 |
PRIDEi | Q8NDV3 |
ProteomicsDBi | 73058 [Q8NDV3-1] 73059 [Q8NDV3-2] 73060 [Q8NDV3-3] |
Protocols and materials databases
Antibodypediai | 233, 126 antibodies from 23 providers |
DNASUi | 27127 |
Genome annotation databases
Ensembli | ENST00000357450; ENSP00000350036; ENSG00000077935 ENST00000404354; ENSP00000385902; ENSG00000077935 |
GeneIDi | 27127 |
KEGGi | hsa:27127 |
MANE-Selecti | ENST00000357450.9; ENSP00000350036.4; NM_148674.5; NP_683515.4 |
UCSCi | uc003bgc.4, human [Q8NDV3-1] |
Organism-specific databases
CTDi | 27127 |
DisGeNETi | 27127 |
GeneCardsi | SMC1B |
HGNCi | HGNC:11112, SMC1B |
HPAi | ENSG00000077935, Tissue enriched (testis) |
MIMi | 608685, gene |
neXtProti | NX_Q8NDV3 |
PharmGKBi | PA35962 |
VEuPathDBi | HostDB:ENSG00000077935 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0018, Eukaryota |
HOGENOMi | CLU_001042_0_2_1 |
InParanoidi | Q8NDV3 |
OrthoDBi | 326079at2759 |
PhylomeDBi | Q8NDV3 |
TreeFami | TF101156 |
Enzyme and pathway databases
PathwayCommonsi | Q8NDV3 |
Reactomei | R-HSA-1221632, Meiotic synapsis |
SignaLinki | Q8NDV3 |
Miscellaneous databases
BioGRID-ORCSi | 27127, 7 hits in 1040 CRISPR screens |
ChiTaRSi | SMC1B, human |
GeneWikii | SMC1B |
GenomeRNAii | 27127 |
Pharosi | Q8NDV3, Tbio |
PROi | PR:Q8NDV3 |
RNActi | Q8NDV3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000077935, Expressed in testis and 21 other tissues |
Genevisiblei | Q8NDV3, HS |
Family and domain databases
CDDi | cd03275, ABC_SMC1_euk, 2 hits |
Gene3Di | 3.40.50.300, 2 hits |
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR003395, RecF/RecN/SMC_N IPR024704, SMC IPR028468, Smc1_ABC IPR010935, SMC_hinge IPR036277, SMC_hinge_sf |
Pfami | View protein in Pfam PF06470, SMC_hinge, 1 hit PF02463, SMC_N, 1 hit |
PIRSFi | PIRSF005719, SMC, 1 hit |
SMARTi | View protein in SMART SM00968, SMC_hinge, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits SSF75553, SSF75553, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SMC1B_HUMAN | |
Accessioni | Q8NDV3Primary (citable) accession number: Q8NDV3 Secondary accession number(s): A0AV46 Q9Y3G5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 25, 2003 |
Last sequence update: | January 4, 2005 | |
Last modified: | February 23, 2022 | |
This is version 168 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families