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    SMC1A structural maintenance of chromosomes 1A [ Homo sapiens (human) ]

    Gene ID: 8243, updated on 4-Jul-2021

    Summary

    Official Symbol
    SMC1Aprovided by HGNC
    Official Full Name
    structural maintenance of chromosomes 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:11111
    See related
    Ensembl:ENSG00000072501 MIM:300040
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SMC1; SMCB; CDLS2; DEE85; SB1.8; EIEE85; SMC1L1; DXS423E; SMC1alpha
    Summary
    Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in lymph node (RPKM 13.2), appendix (RPKM 13.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SMC1A in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (53374149..53422728, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (53401070..53449677, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 62 Neighboring gene MPV17L2 pseudogene 1 Neighboring gene microRNA 6857 Neighboring gene RIB43A domain with coiled-coils 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 10

    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?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-07-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2018-07-23)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify structural maintenance of chromosomes 1A (SMC1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify structural maintenance of chromosomes 1A (SMC1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify structural maintenance of chromosomes 1A (SMC1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify structural maintenance of chromosomes 1A (SMC1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    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

    • KIAA0178, MGC138332, DKFZp686L19178

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mediator complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in meiotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitotic sister chromatid cohesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mitotic sister chromatid segregation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to DNA damage checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to radiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromosome TAS
    Traceable Author Statement
    more info
     
    located_in chromosome, centromeric region TAS
    Traceable Author Statement
    more info
     
    part_of cohesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of cohesin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cohesin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in condensed nuclear chromosome TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of meiotic cohesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of meiotic cohesin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    structural maintenance of chromosomes protein 1A
    Names
    SMC protein 1A
    SMC-1-alpha
    SMC1 (structural maintenance of chromosomes 1, yeast)-like 1
    epididymis secretory sperm binding protein
    segregation of mitotic chromosomes 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_006988.2 RefSeqGene

      Range
      4943..53522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_773

    mRNA and Protein(s)

    1. NM_001281463.1NP_001268392.1  structural maintenance of chromosomes protein 1A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC233728
      Consensus CDS
      CCDS75985.1
      UniProtKB/TrEMBL
      G8JLG1
      Related
      ENSP00000364489.7, ENST00000375340.10
      Conserved Domains (1) summary
      pfam02463
      Location:151188
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_006306.4NP_006297.2  structural maintenance of chromosomes protein 1A isoform 1

      See identical proteins and their annotated locations for NP_006297.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC233728, BC080185, D80000
      Consensus CDS
      CCDS14352.1
      UniProtKB/Swiss-Prot
      Q14683
      UniProtKB/TrEMBL
      Q68EN4
      Related
      ENSP00000323421.3, ENST00000322213.9
      Conserved Domains (1) summary
      pfam02463
      Location:31210
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      53374149..53422728 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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