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

Gene ID: 8243, updated on 4-Jan-2025

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; AllianceGenome:HGNC:11111
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (53374149..53422728, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (52660456..52709071, complement)
RS_2024_09 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 MPV17L2 pseudogene 1 Neighboring gene uncharacterized LOC124905191 Neighboring gene NANOG hESC enhancer GRCh37_chrX:53426719-53427254 Neighboring gene microRNA 6857 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:53448761-53449734 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:53449735-53450706 Neighboring gene RIB43A domain with coiled-coils 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 10

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

General gene information

Clone Names

  • KIAA0178, MGC138332, DKFZp686L19178

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables ATP hydrolysis activity  
enables DNA binding  
enables RNA binding PubMed 
enables chromatin binding PubMed 
enables mediator complex binding  
enables protein binding PubMed 
enables protein heterodimerization activity PubMed 
Component Evidence Code Pubs
located_in chromosome  
located_in chromosome, centromeric region  
part_of cohesin complex PubMed 
part_of cohesin complex PubMed 
located_in condensed nuclear chromosome PubMed 
located_in cytosol  
located_in cytosol  
located_in kinetochore PubMed 
part_of meiotic cohesin complex  
part_of meiotic cohesin complex PubMed 
part_of meiotic cohesin complex PubMed 
part_of mitotic cohesin complex PubMed 
part_of mitotic cohesin complex  
located_in mitotic spindle pole PubMed 
located_in nuclear matrix PubMed 
located_in nucleoplasm  
located_in nucleoplasm  
is_active_in nucleus  
located_in nucleus PubMed 
located_in nucleus 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)

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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
    A0A6Q8PHC3, 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
    O14995, Q14683, Q16351, Q2M228
    UniProtKB/TrEMBL
    A0A384MR33
    Related
    ENSP00000323421.3, ENST00000322213.9
    Conserved Domains (1) summary
    pfam02463
    Location:31210
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    52660456..52709071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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