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    SMC4 structural maintenance of chromosomes 4 [ Homo sapiens (human) ]

    Gene ID: 10051, updated on 10-Dec-2024

    Summary

    Official Symbol
    SMC4provided by HGNC
    Official Full Name
    structural maintenance of chromosomes 4provided by HGNC
    Primary source
    HGNC:HGNC:14013
    See related
    Ensembl:ENSG00000113810 MIM:605575; AllianceGenome:HGNC:14013
    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
    CAPC; CAP-C; SMC-4; SMC4L1
    Summary
    This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]
    Expression
    Broad expression in testis (RPKM 22.9), bone marrow (RPKM 22.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SMC4 in Genome Data Viewer
    Location:
    3q25.33
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (160399650..160434953)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (163174262..163209567)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (160117438..160152741)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14854 Neighboring gene TRIM59-IFT80 readthrough (NMD candidate) Neighboring gene chromosome 3 open reading frame 80 Neighboring gene intraflagellar transport 80 Neighboring gene ribosomal protein L35a pseudogene 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:160117119-160117481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14855 Neighboring gene microRNA 16-2 Neighboring gene microRNA 15b Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:160149190-160150389 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:160166710-160167230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20758 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:160167750-160168269 Neighboring gene tripartite motif containing 59 Neighboring gene beta-1,3-glucuronyltransferase 3 pseudogene 1

    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
    Tat tat Interaction of HIV-1 Tat with SMC4 in T-cells is identified by a proteomic strategy based on affinity chromatography coupled with mass spectrometry 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in condensed nuclear chromosome ISO
    Inferred from Sequence Orthology
    more info
     
    part_of condensin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of condensin complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of condensin complex 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 nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    structural maintenance of chromosomes protein 4
    Names
    SMC protein 4
    SMC4 structural maintenance of chromosomes 4-like 1
    chromosome-associated polypeptide C

    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_050987.1 RefSeqGene

      Range
      5347..40650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002800.3NP_001002800.1  structural maintenance of chromosomes protein 4 isoform 1

      See identical proteins and their annotated locations for NP_001002800.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB019987, AL136877, BC106033
      Consensus CDS
      CCDS3189.1
      UniProtKB/Swiss-Prot
      A6NLT9, D3DNL8, O95752, Q8NDL4, Q9NTJ3, Q9UNT9
      UniProtKB/TrEMBL
      B3KXX5
      Related
      ENSP00000349961.3, ENST00000357388.8
      Conserved Domains (4) summary
      cd03274
      Location:82241
      ABC_SMC4_euk; ATP-binding cassette domain of eukaryotic SMC4 proteins
      smart00968
      Location:613727
      SMC_hinge; SMC proteins Flexible Hinge Domain
      pfam02463
      Location:831274
      SMC_N; RecF/RecN/SMC N terminal domain
      cl23887
      Location:327427
      DUF4349; Domain of unknown function (DUF4349)
    2. NM_001288753.2NP_001275682.1  structural maintenance of chromosomes protein 4 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 5' coding region, compared to variant 2. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK128143, AL136877
      Consensus CDS
      CCDS75046.1
      UniProtKB/TrEMBL
      B3KXX5, E9PD53
      Related
      ENSP00000417964.1, ENST00000469762.5
      Conserved Domains (4) summary
      cd03274
      Location:57216
      ABC_SMC4_euk; ATP-binding cassette domain of eukaryotic SMC4 proteins
      smart00968
      Location:588702
      SMC_hinge; SMC proteins Flexible Hinge Domain
      pfam02463
      Location:581249
      SMC_N; RecF/RecN/SMC N terminal domain
      cl23887
      Location:302402
      DUF4349; Domain of unknown function (DUF4349)
    3. NM_005496.3NP_005487.3  structural maintenance of chromosomes protein 4 isoform 1

      See identical proteins and their annotated locations for NP_005487.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 2. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL136877, AL833949
      Consensus CDS
      CCDS3189.1
      UniProtKB/Swiss-Prot
      A6NLT9, D3DNL8, O95752, Q8NDL4, Q9NTJ3, Q9UNT9
      UniProtKB/TrEMBL
      B3KXX5
      Related
      ENSP00000341382.5, ENST00000344722.5
      Conserved Domains (4) summary
      cd03274
      Location:82241
      ABC_SMC4_euk; ATP-binding cassette domain of eukaryotic SMC4 proteins
      smart00968
      Location:613727
      SMC_hinge; SMC proteins Flexible Hinge Domain
      pfam02463
      Location:831274
      SMC_N; RecF/RecN/SMC N terminal domain
      cl23887
      Location:327427
      DUF4349; Domain of unknown function (DUF4349)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      160399650..160434953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512311.3XP_011510613.1  structural maintenance of chromosomes protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011510613.1

      UniProtKB/Swiss-Prot
      A6NLT9, D3DNL8, O95752, Q8NDL4, Q9NTJ3, Q9UNT9
      UniProtKB/TrEMBL
      B3KXX5
      Conserved Domains (4) summary
      cd03274
      Location:82241
      ABC_SMC4_euk; ATP-binding cassette domain of eukaryotic SMC4 proteins
      smart00968
      Location:613727
      SMC_hinge; SMC proteins Flexible Hinge Domain
      pfam02463
      Location:831274
      SMC_N; RecF/RecN/SMC N terminal domain
      cl23887
      Location:327427
      DUF4349; Domain of unknown function (DUF4349)
    2. XM_006713459.5XP_006713522.1  structural maintenance of chromosomes protein 4 isoform X3

      UniProtKB/TrEMBL
      B3KXX5
      Conserved Domains (4) summary
      cd03274
      Location:82241
      ABC_SMC4_euk; ATP-binding cassette domain of eukaryotic SMC4 proteins
      smart00968
      Location:535649
      SMC_hinge; SMC proteins Flexible Hinge Domain
      pfam02463
      Location:831196
      SMC_N; RecF/RecN/SMC N terminal domain
      cl23887
      Location:327427
      DUF4349; Domain of unknown function (DUF4349)
    3. XM_011512312.3XP_011510614.1  structural maintenance of chromosomes protein 4 isoform X2

      UniProtKB/TrEMBL
      B3KXX5
      Conserved Domains (3) summary
      cd03274
      Location:10169
      ABC_SMC4_euk; ATP-binding cassette domain of eukaryotic SMC4 proteins
      smart00968
      Location:541655
      SMC_hinge; SMC proteins Flexible Hinge Domain
      pfam02463
      Location:111202
      SMC_N; RecF/RecN/SMC N terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      163174262..163209567
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344823.1XP_054200798.1  structural maintenance of chromosomes protein 4 isoform X1

      UniProtKB/Swiss-Prot
      A6NLT9, D3DNL8, O95752, Q8NDL4, Q9NTJ3, Q9UNT9
      UniProtKB/TrEMBL
      B3KXX5
    2. XM_054344825.1XP_054200800.1  structural maintenance of chromosomes protein 4 isoform X3

      UniProtKB/TrEMBL
      B3KXX5
    3. XM_054344824.1XP_054200799.1  structural maintenance of chromosomes protein 4 isoform X2

      UniProtKB/TrEMBL
      B3KXX5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001002799.1: Suppressed sequence

      Description
      NM_001002799.1: This RefSeq was permanently suppressed because it contains an unsupported deletion in the CDS that causes a frameshift resulting in premature translation termination. NM_001002799.1 is therefore a nonsense-mediated m