Q8NDV3

PR
Gene name
SMC1B (SMC1L2)
Protein name
Structural maintenance of chromosomes protein 1B
Names
SMC protein 1B, SMC-1-beta, SMC-1B
Species
Homo sapiens (Human)
KEGG Pathway
hsa:27127
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

622-725 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q8NDV3

Entry ID Method Resolution Chain Position Source
AF-Q8NDV3-F1 Predicted AlphaFoldDB

4 variants for Q8NDV3

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_045913
rs136603
CA325019005
 473 F>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
dbSNP
gnomAD
rs9614653
VAR_057324
CA10285464
 758 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_057325
rs16993928
CA325074495
 1008 S>A No ClinGen
UniProt
Ensembl
dbSNP
rs5764698
CA10285238
VAR_045914
 1050 L>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD

No associated diseases with Q8NDV3

4 regional properties for Q8NDV3

Type Name Position InterPro Accession
domain RecF/RecN/SMC, N-terminal 4 - 1203 IPR003395
domain SMCs flexible hinge 513 - 629 IPR010935
domain Smc1, ATP-binding cassette domain 4 - 148 IPR028468-1
domain Smc1, ATP-binding cassette domain 1113 - 1216 IPR028468-2

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Chromosome
  • Chromosome, centromere
  • 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)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
chromosome, centromeric region The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
cohesin complex A protein complex that is required for sister chromatid cohesion in eukaryotes. The cohesin complex forms a molecular ring complex, and is composed of structural maintenance of chromosomes (SMC) and kleisin proteins. For example, in yeast, the complex is composed of the SMC proteins Smc1p and Smc3p, and the kleisin protein Scc1p. In vertebrates, the complex is composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domains to a kleisin (RAD21, REC8 or RAD21L) which links them, and one STAG protein (STAG1, STAG2 or STAG3).
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
lateral element A proteinaceous core found between sister chromatids during meiotic prophase.
meiotic cohesin complex A cohesin complex that mediates sister chromatid cohesion during meiosis; has a subunit composition distinct from that of the mitotic cohesin complex.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

2 GO annotations of biological process

Name Definition
meiotic cell cycle Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions.
sister chromatid cohesion The cell cycle process in which the sister chromatids of a replicated chromosome become tethered to each other.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P32908 SMC1 Structural maintenance of chromosomes protein 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q14683 SMC1A Structural maintenance of chromosomes protein 1A Homo sapiens (Human) PR
Q9CU62 Smc1a Structural maintenance of chromosomes protein 1A Mus musculus (Mouse) PR
Q9Z1M9 Smc1a Structural maintenance of chromosomes protein 1A Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAHLELLLVE NFKSWRGRQV IGPFRRFTCI IGPNGSGKSN VMDALSFVMG EKIANLRVKN
70 80 90 100 110 120
IQELIHGAHI GKPISSSASV KIIYVEESGE EKTFARIIRG GCSEFRFNDN LVSRSVYIAE
130 140 150 160 170 180
LEKIGIIVKA QNCLVFQGTV ESISVKKPKE RTQFFEEIST SGELIGEYEE KKRKLQKAEE
190 200 210 220 230 240
DAQFNFNKKK NIAAERRQAK LEKEEAERYQ SLLEELKMNK IQLQLFQLYH NEKKIHLLNT
250 260 270 280 290 300
KLEHVNRDLS VKRESLSHHE NIVKARKKEH GMLTRQLQQT EKELKSVETL LNQKRPQYIK
310 320 330 340 350 360
AKENTSHHLK KLDVAKKSIK DSEKQCSKQE DDIKALETEL ADLDAAWRSF EKQIEEEILH
370 380 390 400 410 420
KKRDIELEAS QLDRYKELKE QVRKKVATMT QQLEKLQWEQ KTDEERLAFE KRRHGEVQGN
430 440 450 460 470 480
LKQIKEQIED HKKRIEKLEE YTKTCMDCLK EKKQQEETLV DEIEKTKSRM SEFNEELNLI
490 500 510 520 530 540
RSELQNAGID THEGKRQQKR AEVLEHLKRL YPDSVFGRLF DLCHPIHKKY QLAVTKVFGR
550 560 570 580 590 600
FITAIVVASE KVAKDCIRFL KEERAEPETF LALDYLDIKP INERLRELKG CKMVIDVIKT
610 620 630 640 650 660
QFPQLKKVIQ FVCGNGLVCE TMEEARHIAL SGPERQKTVA LDGTLFLKSG VISGGSSDLK
670 680 690 700 710 720
YKARCWDEKE LKNLRDRRSQ KIQELKGLMK TLRKETDLKQ IQTLIQGTQT RLKYSQNELE
730 740 750 760 770 780
MIKKKHLVAF YQEQSQLQSE LLNIESQCIM LSEGIKERQR RIKEFQEKID KVEDDIFQHF
790 800 810 820 830 840
CEEIGVENIR EFENKHVKRQ QEIDQKRYFY KKMLTRLNVQ LEYSRSHLKK KLNKINTLKE
850 860 870 880 890 900
TIQKGSEDID HLKKAEENCL QTVNELMAKQ QQLKDIRVTQ NSSAEKVQTQ IEEERKKFLA
910 920 930 940 950 960
VDREVGKLQK EVVSIQTSLE QKRLEKHNLL LDCKVQDIEI ILLSGSLDDI IEVEMGTEAE
970 980 990 1000 1010 1020
STQATIDIYE KEEAFEIDYS SLKEDLKALQ SDQEIEAHLR LLLQQVASQE DILLKTAAPN
1030 1040 1050 1060 1070 1080
LRALENLKTV RDKFQESTDA FEASRKEARL CRQEFEQVKK RRYDLFTQCF EHVSISIDQI
1090 1100 1110 1120 1130 1140
YKKLCRNNSA QAFLSPENPE EPYLEGISYN CVAPGKRFMP MDNLSGGEKC VAALALLFAV
1150 1160 1170 1180 1190 1200
HSFRPAPFFV LDEVDAALDN TNIGKVSSYI KEQTQDQFQM IVISLKEEFY SRADALIGIY
1210 1220 1230
PEYDDCMFSR VLTLDLSQYP DTEGQESSKR HGESR