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UniProtKB - Q8NDV3 (SMC1B_HUMAN)

Protein

Structural maintenance of chromosomes protein 1B

Gene

SMC1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell cycle, Meiosis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000077935.16
HGNCiHGNC:11112 SMC1B
MIMi608685 gene
neXtProtiNX_Q8NDV3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei648N6-acetyllysineBy similarity1
Modified residuei713N6-acetyllysineBy similarity1
Modified residuei1033N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8NDV3
MaxQBiQ8NDV3
PaxDbiQ8NDV3
PeptideAtlasiQ8NDV3
PRIDEiQ8NDV3
ProteomicsDBi73058
73059 [Q8NDV3-2]
73060 [Q8NDV3-3]

PTM databases

iPTMnetiQ8NDV3
PhosphoSitePlusiQ8NDV3

Expressioni

Gene expression databases

BgeeiENSG00000077935 Expressed in 14 organ(s), highest expression level in testis
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 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 similarity

Protein-protein interaction databases

BioGridi118018, 6 interactors
IntActiQ8NDV3, 1 interactor
STRINGi9606.ENSP00000350036

Structurei

3D structure databases

ProteinModelPortaliQ8NDV3
SMRiQ8NDV3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini514 – 629SMC hingeAdd BLAST116

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 SMC 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

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR003395 RecF/RecN/SMC_N
IPR024704 SMC
IPR010935 SMC_hinge
IPR036277 SMC_hinge_sf
PfamiView protein in Pfam
PF06470 SMC_hinge, 1 hit
PF02463 SMC_N, 1 hit
PIRSFiPIRSF005719 SMC, 1 hit
SMARTiView protein in SMART
SM00968 SMC_hinge, 1 hit
SUPFAMiSSF52540 SSF52540, 2 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 → V1 PublicationCorresponds to variant dbSNP:rs136603Ensembl.1
Natural variantiVAR_057324758R → Q. Corresponds to variant dbSNP:rs9614653Ensembl.1
Natural variantiVAR_0573251008S → A. Corresponds to variant dbSNP:rs16993928Ensembl.1
Natural variantiVAR_0459141050L → M2 PublicationsCorresponds to variant dbSNP:rs5764698Ensembl.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 Genomic DNA No translation available.
AL021391 Genomic DNA No translation available.
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

Similar 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.
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
IntActiQ8NDV3, 1 interactor
STRINGi9606.ENSP00000350036

PTM databases

iPTMnetiQ8NDV3
PhosphoSitePlusiQ8NDV3

Polymorphism and mutation databases

BioMutaiSMC1B
DMDMi57015410

Proteomic databases

EPDiQ8NDV3
MaxQBiQ8NDV3
PaxDbiQ8NDV3
PeptideAtlasiQ8NDV3
PRIDEiQ8NDV3
ProteomicsDBi73058
73059 [Q8NDV3-2]
73060 [Q8NDV3-3]

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
EuPathDBiHostDB:ENSG00000077935.16
GeneCardsiSMC1B
H-InvDBiHIX0027884
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

ReactomeiR-HSA-1221632 Meiotic synapsis

Miscellaneous databases

GeneWikiiSMC1B
GenomeRNAii27127
PROiPR:Q8NDV3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000077935 Expressed in 14 organ(s), highest expression level in testis
CleanExiHS_SMC1B
GenevisibleiQ8NDV3 HS

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR003395 RecF/RecN/SMC_N
IPR024704 SMC
IPR010935 SMC_hinge
IPR036277 SMC_hinge_sf
PfamiView protein in Pfam
PF06470 SMC_hinge, 1 hit
PF02463 SMC_N, 1 hit
PIRSFiPIRSF005719 SMC, 1 hit
SMARTiView protein in SMART
SM00968 SMC_hinge, 1 hit
SUPFAMiSSF52540 SSF52540, 2 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 historyiIntegrated into UniProtKB/Swiss-Prot: March 25, 2003
Last sequence update: January 4, 2005
Last modified: November 7, 2018
This is version 151 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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