SMC1B (structural maintenance of chromosomes 1B)

Gene

• Entrez ID: 27127
• Gene name: Structural maintenance of chromosomes 1B
• Gene symbol: SMC1B
• Synonyms (NCBI Gene): SMC1BETA, SMC1L2
• Chromosome: 22
• Chromosome location: 22q13.31
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2334009	hsa-miR-4698	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0000800	Component	Lateral element	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007062	Process	Sister chromatid cohesion	IBA
GO:0007062	Process	Sister chromatid cohesion	IEA
GO:0007062	Process	Sister chromatid cohesion	IEA
GO:0008278	Component	Cohesin complex	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030893	Component	Meiotic cohesin complex	IBA
GO:0030893	Component	Meiotic cohesin complex	IDA	21242291
GO:0030893	Component	Meiotic cohesin complex	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051321	Process	Meiotic cell cycle	IEA

Other IDs

• MIM: 608685
• HGNC: 11112
• e!Ensembl: ENSG00000077935

Protein

• UniProt ID: Q8NDV3
• Protein name: Structural maintenance of chromosomes protein 1B (SMC protein 1B) (SMC-1-beta) (SMC-1B)
• Protein function: 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02463	SMC_N	3 → 1207	RecF/RecN/SMC N terminal domain	Domain
  PF06470	SMC_hinge	512 → 629	SMC proteins Flexible Hinge Domain	Domain

• Sequence:

  MAHLELLLVENFKSWRGRQVIGPFRRFTCIIGPNGSGKSNVMDALSFVMGEKIANLRVKN
  IQELIHGAHIGKPISSSASVKIIYVEESGEEKTFARIIRGGCSEFRFNDNLVSRSVYIAE
  LEKIGIIVKAQNCLVFQGTVESISVKKPKERTQFFEEISTSGELIGEYEEKKRKLQKAEE
  DAQFNFNKKKNIAAERRQAKLEKEEAERYQSLLEELKMNKIQLQLFQLYHNEKKIHLLNT
  KLEHVNRDLSVKRESLSHHENIVKARKKEHGMLTRQLQQTEKELKSVETLLNQKRPQYIK
  AKENTSHHLKKLDVAKKSIKDSEKQCSKQEDDIKALETELADLDAAWRSFEKQIEEEILH
  KKRDIELEASQLDRYKELKEQVRKKVATMTQQLEKLQWEQKTDEERLAFEKRRHGEVQGN
  LKQIKEQIEDHKKRIEKLEEYTKTCMDCLKEKKQQEETLVDEIEKTKSRMSEFNEELNLI
  RSELQNAGIDTHEGKRQQKRAEVLEHLKRLYPDSVFGRLFDLCHPIHKKYQLAVTKVFGR
  FITAIVVASEKVAKDCIRFLKEERAEPETFLALDYLDIKPINERLRELKGCKMVIDVIKT
  QFPQLKKVIQFVCGNGLVCETMEEARHIALSGPERQKTVALDGTLFLKSGVISGGSSDLK
  YKARCWDEKELKNLRDRRSQKIQELKGLMKTLRKETDLKQIQTLIQGTQTRLKYSQNELE
  MIKKKHLVAFYQEQSQLQSELLNIESQCIMLSEGIKERQRRIKEFQEKIDKVEDDIFQHF
  CEEIGVENIREFENKHVKRQQEIDQKRYFYKKMLTRLNVQLEYSRSHLKKKLNKINTLKE
  TIQKGSEDIDHLKKAEENCLQTVNELMAKQQQLKDIRVTQNSSAEKVQTQIEEERKKFLA
  VDREVGKLQKEVVSIQTSLEQKRLEKHNLLLDCKVQDIEIILLSGSLDDIIEVEMGTEAE
  STQATIDIYEKEEAFEIDYSSLKEDLKALQSDQEIEAHLRLLLQQVASQEDILLKTAAPN
  LRALENLKTVRDKFQESTDAFEASRKEARLCRQEFEQVKKRRYDLFTQCFEHVSISIDQI
  YKKLCRNNSAQAFLSPENPEEPYLEGISYNCVAPGKRFMPMDNLSGGEKCVAALALLFAV
  HSFRPAPFFVLDEVDAALDNTNIGKVSSYIKEQTQDQFQMIVISLKEEFYSRADALIGIY
  PEYDDCMFSRVLTLDLSQYPDTEGQESSKRHGESR

• Sequence length: 1235

Pathways

KEGG:

Cell cycle
Oocyte meiosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Genetic non-acquired premature ovarian failure	Likely pathogenic	rs781614640	RCV001661782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinoma Squamous Cell	Stimulate	36689258	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Associate	20819778	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	30364933, 36179046	★☆☆☆☆ Found in Text Mining only
Neoplasms Second Primary	Associate	20819778	★☆☆☆☆ Found in Text Mining only
Papillomavirus Infections	Associate	30364933	★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Associate	30364933	★☆☆☆☆ Found in Text Mining only