SMC1B - structural maintenance of chromosomes 1B Gene

Also Known as SMC1L2; SMC1BETA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27127

About SMC1B

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:45,344,063-45,413,599 (from NCBI)

This gene has 2 transcripts (splice variants), 206 orthologues and 7 paralogues. Restricted expression toward testis (RPKM 20.7).

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]

SMC1B Products (2)

mRNA Protein Name
NM_001291501.2 NP_001278430.1 structural maintenance of chromosomes protein 1B isoform 2
NM_148674.5 NP_683515.4 structural maintenance of chromosomes protein 1B isoform 1
Cellular Component GO Annotation Evidence References Source
part of meiotic cohesin complex IDA
IDA: Inferred from direct assay
21242291 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMC1B Protein Structure

SMC_N

SMC_N: RecF/RecN/SMC N terminal domain (4 - 1203)

SMC_hinge

SMC_hinge: SMC proteins Flexible Hinge Domain (514 - 629)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1235 a.a.
Protein Preferred Names Protein Names

structural maintenance of chromosomes protein 1B

  • SMC protein 1B

SMC1B Antibodies

Cat. No. Product Name Application Reactivity
HY-P87031 Phospho-SMC1 (S957) Antibody (YA6724) WB, IHC-P, ICC/IF Human

Related Diseases

Diseases Alias
Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

Corneal Dystrophy, Subepithelial Mucinous
  • Subepithelial Mucinous Corneal Dystrophy

  • SMCD

46 Xx Gonadal Dysgenesis
  • Ovarian Dysgenesis

  • Gonadal Dysgenesis, 46,Xx

  • Dysgenesis, Ovarian

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta SMC1B VGNC VGNC:77657
Mus musculus SMC1B MGD MGI:2154049
Bos taurus SMC1B VGNC VGNC:34998
Canis familiaris SMC1B VGNC VGNC:46542
Rattus norvegicus SMC1B RGD RGD:1308791
Felis catus SMC1B VGNC VGNC:65475