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Protein

Structural maintenance of chromosomes protein 1B

Gene

SMC1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

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 similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi32 – 39ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell cycle, Meiosis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000077935-MONOMER.
ReactomeiR-HSA-1221632. Meiotic synapsis.

Names & Taxonomyi

Protein namesi
Recommended name:
Structural maintenance of chromosomes protein 1B
Short name:
SMC protein 1B
Short name:
SMC-1-beta
Short name:
SMC-1B
Gene namesi
Name:SMC1B
Synonyms:SMC1L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:11112. SMC1B.

Subcellular locationi

  • Nucleus
  • Chromosome By similarity
  • Chromosomecentromere 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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Centromere, Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi27127.
PharmGKBiPA35962.

Polymorphism and mutation databases

BioMutaiSMC1B.
DMDMi57015410.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001189931 – 1235Structural maintenance of chromosomes protein 1BAdd BLAST1235

Proteomic databases

EPDiQ8NDV3.
MaxQBiQ8NDV3.
PaxDbiQ8NDV3.
PeptideAtlasiQ8NDV3.
PRIDEiQ8NDV3.

PTM databases

iPTMnetiQ8NDV3.
PhosphoSitePlusiQ8NDV3.

Expressioni

Gene expression databases

BgeeiENSG00000077935.
CleanExiHS_SMC1B.
GenevisibleiQ8NDV3. HS.

Organism-specific databases

HPAiHPA001500.

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 hinge domain, RAD21 (or its meiosis-specific related protein REC8), which link them, and STAG3, which interacts with RAD21 or REC8 (By similarity).By similarity

Protein-protein interaction databases

BioGridi118018. 6 interactors.
STRINGi9606.ENSP00000350036.

Structurei

3D structure databases

ProteinModelPortaliQ8NDV3.
SMRiQ8NDV3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni491 – 665Flexible hingeAdd BLAST175

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili156 – 490Sequence analysisAdd BLAST335
Coiled coili666 – 934Sequence analysisAdd BLAST269
Coiled coili970 – 994Sequence analysisAdd BLAST25
Coiled coili1022 – 1049Sequence analysisAdd BLAST28

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1124 – 1159Ala/Asp-rich (DA-box)Add BLAST36

Domaini

The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC3, forming a V-shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 or REC8 protein, forming a ring structure (By similarity).By similarity

Sequence similaritiesi

Belongs to the SMC family. SMC1 subfamily.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0018. Eukaryota.
COG1196. LUCA.
HOVERGENiHBG039593.
InParanoidiQ8NDV3.
KOiK06636.
OrthoDBiEOG091G00R5.
PhylomeDBiQ8NDV3.
TreeFamiTF101156.

Family and domain databases

Gene3Di3.40.50.300. 3 hits.
InterProiIPR027417. P-loop_NTPase.
IPR003395. RecF/RecN/SMC_N.
IPR024704. SMC.
IPR010935. SMC_hinge.
[Graphical view]
PfamiPF06470. SMC_hinge. 1 hit.
PF02463. SMC_N. 1 hit.
[Graphical view]
PIRSFiPIRSF005719. SMC. 1 hit.
SMARTiSM00968. SMC_hinge. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 4 hits.
SSF75553. SSF75553. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NDV3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:1,235
Mass (Da):143,908
Last modified:January 4, 2005 - v2
Checksum:iA06223197817017F
GO
Isoform 2 (identifier: Q8NDV3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     808-814: YFYKKML → LEFEKQK
     1092-1165: Missing.

Note: No experimental confirmation available.
Show »
Length:1,161
Mass (Da):135,838
Checksum:iAE2578854CC1A3BE
GO
Isoform 3 (identifier: Q8NDV3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     808-814: YFYKKML → LEFEKQK

Note: No experimental confirmation available.
Show »
Length:1,235
Mass (Da):143,837
Checksum:iBF22F243CA070B15
GO

Sequence cautioni

The sequence BAC86266 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti99R → L in CAD43404 (PubMed:14660695).Curated1
Sequence conflicti731Y → D in BAC86266 (PubMed:14702039).Curated1
Sequence conflicti752S → G in BAC86266 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045913473F → V.1 PublicationCorresponds to variant rs136603dbSNPEnsembl.1
Natural variantiVAR_057324758R → Q.Corresponds to variant rs9614653dbSNPEnsembl.1
Natural variantiVAR_0573251008S → A.Corresponds to variant rs16993928dbSNPEnsembl.1
Natural variantiVAR_0459141050L → M.2 PublicationsCorresponds to variant rs5764698dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_035027808 – 814YFYKKML → LEFEKQK in isoform 2 and isoform 3. 2 Publications7
Alternative sequenceiVSP_0350281092 – 1165Missing in isoform 2. 1 PublicationAdd BLAST74

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ504806 mRNA. Translation: CAD43404.2.
AL008718, AL021391 Genomic DNA. Translation: CAQ08671.1.
AL008718, AL021391 Genomic DNA. Translation: CAQ08672.1.
BC126208 mRNA. Translation: AAI26209.1.
AK125736 mRNA. Translation: BAC86266.1. Different initiation.
CCDSiCCDS43027.1. [Q8NDV3-3]
CCDS74876.1. [Q8NDV3-2]
RefSeqiNP_001278430.1. NM_001291501.1.
NP_683515.4. NM_148674.4.
UniGeneiHs.334176.

Genome annotation databases

EnsembliENST00000357450; ENSP00000350036; ENSG00000077935.
ENST00000404354; ENSP00000385902; ENSG00000077935.
GeneIDi27127.
KEGGihsa:27127.
UCSCiuc003bgc.4. human. [Q8NDV3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ504806 mRNA. Translation: CAD43404.2.
AL008718, AL021391 Genomic DNA. Translation: CAQ08671.1.
AL008718, AL021391 Genomic DNA. Translation: CAQ08672.1.
BC126208 mRNA. Translation: AAI26209.1.
AK125736 mRNA. Translation: BAC86266.1. Different initiation.
CCDSiCCDS43027.1. [Q8NDV3-3]
CCDS74876.1. [Q8NDV3-2]
RefSeqiNP_001278430.1. NM_001291501.1.
NP_683515.4. NM_148674.4.
UniGeneiHs.334176.

3D structure databases

ProteinModelPortaliQ8NDV3.
SMRiQ8NDV3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118018. 6 interactors.
STRINGi9606.ENSP00000350036.

PTM databases

iPTMnetiQ8NDV3.
PhosphoSitePlusiQ8NDV3.

Polymorphism and mutation databases

BioMutaiSMC1B.
DMDMi57015410.

Proteomic databases

EPDiQ8NDV3.
MaxQBiQ8NDV3.
PaxDbiQ8NDV3.
PeptideAtlasiQ8NDV3.
PRIDEiQ8NDV3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357450; ENSP00000350036; ENSG00000077935.
ENST00000404354; ENSP00000385902; ENSG00000077935.
GeneIDi27127.
KEGGihsa:27127.
UCSCiuc003bgc.4. human. [Q8NDV3-1]

Organism-specific databases

CTDi27127.
DisGeNETi27127.
GeneCardsiSMC1B.
H-InvDBHIX0027884.
HGNCiHGNC:11112. SMC1B.
HPAiHPA001500.
MIMi608685. gene.
neXtProtiNX_Q8NDV3.
PharmGKBiPA35962.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0018. Eukaryota.
COG1196. LUCA.
HOVERGENiHBG039593.
InParanoidiQ8NDV3.
KOiK06636.
OrthoDBiEOG091G00R5.
PhylomeDBiQ8NDV3.
TreeFamiTF101156.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000077935-MONOMER.
ReactomeiR-HSA-1221632. Meiotic synapsis.

Miscellaneous databases

GeneWikiiSMC1B.
GenomeRNAii27127.
PROiQ8NDV3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000077935.
CleanExiHS_SMC1B.
GenevisibleiQ8NDV3. HS.

Family and domain databases

Gene3Di3.40.50.300. 3 hits.
InterProiIPR027417. P-loop_NTPase.
IPR003395. RecF/RecN/SMC_N.
IPR024704. SMC.
IPR010935. SMC_hinge.
[Graphical view]
PfamiPF06470. SMC_hinge. 1 hit.
PF02463. SMC_N. 1 hit.
[Graphical view]
PIRSFiPIRSF005719. SMC. 1 hit.
SMARTiSM00968. SMC_hinge. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 4 hits.
SSF75553. SSF75553. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSMC1B_HUMAN
AccessioniPrimary (citable) accession number: Q8NDV3
Secondary accession number(s): A0AV46
, B0QY23, B0QY24, Q5TIC3, Q6ZUF9, Q9Y3G5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 25, 2003
Last sequence update: January 4, 2005
Last modified: November 2, 2016
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.