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SMC1B structural maintenance of chromosomes 1B [ Homo sapiens (human) ]

Gene ID: 27127, updated on 5-Jul-2020

Summary

Official Symbol
SMC1Bprovided by HGNC
Official Full Name
structural maintenance of chromosomes 1Bprovided by HGNC
Primary source
HGNC:HGNC:11112
See related
Ensembl:ENSG00000077935 MIM:608685
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMC1L2; SMC1BETA
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]
Expression
Restricted expression toward testis (RPKM 20.7) See more
Orthologs

Genomic context

See SMC1B in Genome Data Viewer
Location:
22q13.31
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (45344063..45413671, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45739944..45809500, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uroplakin 3A Neighboring gene family with sequence similarity 118 member A Neighboring gene RIB43A domain with coiled-coils 2 Neighboring gene uncharacterized LOC107985537

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr decreases the amount of Smc1 and Smc3 proteins in the chromatin PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43748

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
sister chromatid cohesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
lateral element IEA
Inferred from Electronic Annotation
more info
 
meiotic cohesin complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear meiotic cohesin complex IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
structural maintenance of chromosomes protein 1B
Names
SMC protein 1B
SMC1 (structural maintenance of chromosomes 1, yeast)-like 1
SMC1 structural maintenance of chromosomes 1-like 2
mitosis-specific chromosome segregation protein like protein beta

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001291501.2NP_001278430.1  structural maintenance of chromosomes protein 1B isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AJ504806, BC126208, BG194018
    Consensus CDS
    CCDS74876.1
    UniProtKB/Swiss-Prot
    Q8NDV3
    Related
    ENSP00000385902.3, ENST00000404354.3
    Conserved Domains (5) summary
    cd03275
    Location:4148
    ABC_SMC1_euk; ATP-binding cassette domain of eukaryotic SMC1 proteins
    smart00968
    Location:513628
    SMC_hinge; SMC proteins Flexible Hinge Domain
    COG1196
    Location:31092
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cl19219
    Location:421492
    DUF342; Protein of unknown function (DUF342)
    cl21455
    Location:10881142
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_148674.5NP_683515.4  structural maintenance of chromosomes protein 1B isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AJ504806, AK125736, BC126208, BG194018
    Consensus CDS
    CCDS43027.1
    UniProtKB/Swiss-Prot
    Q8NDV3
    Related
    ENSP00000350036.4, ENST00000357450.9
    Conserved Domains (4) summary
    cd03275
    Location:4148
    ABC_SMC1_euk; ATP-binding cassette domain of eukaryotic SMC1 proteins
    smart00968
    Location:513628
    SMC_hinge; SMC proteins Flexible Hinge Domain
    COG1196
    Location:31219
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cl19219
    Location:421492
    DUF342; Protein of unknown function (DUF342)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    45344063..45413671 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530144.2XP_011528446.1  structural maintenance of chromosomes protein 1B isoform X1

    Conserved Domains (5) summary
    cd03275
    Location:10721175
    ABC_SMC1_euk; ATP-binding cassette domain of eukaryotic SMC1 proteins
    smart00968
    Location:472587
    SMC_hinge; SMC proteins Flexible Hinge Domain
    COG1196
    Location:11178
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cl19219
    Location:380451
    DUF342; Protein of unknown function (DUF342)
    cl21455
    Location:1107
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_011530145.2XP_011528447.1  structural maintenance of chromosomes protein 1B isoform X2

    Conserved Domains (4) summary
    cd03275
    Location:4148
    ABC_SMC1_euk; ATP-binding cassette domain of eukaryotic SMC1 proteins
    smart00968
    Location:513628
    SMC_hinge; SMC proteins Flexible Hinge Domain
    pfam02463
    Location:31092
    SMC_N; RecF/RecN/SMC N terminal domain
    cl19219
    Location:421492
    DUF342; Protein of unknown function (DUF342)

RNA

  1. XR_244368.4 RNA Sequence

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