Format

Send to:

Choose Destination

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

Gene ID: 10051, updated on 17-Jun-2019

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
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

Genomic context

See SMC4 in Genome Data Viewer
Location:
3q25.33
Exon count:
24
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (160399638..160434953)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (160117078..160152755)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene TRIM59-IFT80 protein Neighboring gene chromosome 3 open reading frame 80 Neighboring gene intraflagellar transport 80 Neighboring gene ribosomal protein L35a pseudogene 10 Neighboring gene microRNA 16-2 Neighboring gene microRNA 15b 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 FunctionsWhat'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 BioSystems

  • Aurora B signaling, organism-specific biosystem (from Pathway Interaction Database)
    Aurora B signaling, organism-specific biosystem
    Aurora B signaling
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Condensation of Prometaphase Chromosomes, organism-specific biosystem (from REACTOME)
    Condensation of Prometaphase Chromosomes, organism-specific biosystemThe condensin I complex is evolutionarily conserved and consists of five subunits: two SMC (structural maintenance of chromosomes) family subunits, SMC2 and SMC4, and three non-SMC subunits, NCAPD2, ...
  • Condensation of Prophase Chromosomes, organism-specific biosystem (from REACTOME)
    Condensation of Prophase Chromosomes, organism-specific biosystemIn mitotic prophase, the action of the condensin II complex enables initial chromosome condensation.The condensin II complex subunit NCAPD3 binds monomethylated histone H4 (H4K20me1), thereby associa...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • Mitotic Prophase, organism-specific biosystem (from REACTOME)
    Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
kinetochore organization IEA
Inferred from Electronic Annotation
more info
 
meiotic chromosome condensation IEA
Inferred from Electronic Annotation
more info
 
meiotic chromosome segregation IEA
Inferred from Electronic Annotation
more info
 
mitotic chromosome condensation IDA
Inferred from Direct Assay
more info
PubMed 
mitotic sister chromatid segregation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
condensin complex IDA
Inferred from Direct Assay
more info
PubMed 
condensin complex TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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
    5001..40659
    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
    Q9NTJ3
    UniProtKB/TrEMBL
    Q58F29
    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/Swiss-Prot
    Q9NTJ3
    UniProtKB/TrEMBL
    B3KXX5, E9PD53, Q58F29
    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
    Q9NTJ3
    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: Homo sapiens 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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    160399638..160434953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512311.2XP_011510613.1  structural maintenance of chromosomes protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011510613.1

    UniProtKB/Swiss-Prot
    Q9NTJ3
    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_006713459.4XP_006713522.1  structural maintenance of chromosomes protein 4 isoform X3

    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_011512312.2XP_011510614.1  structural maintenance of chromosomes protein 4 isoform X2

    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
  4. XM_017005491.2XP_016860980.1  structural maintenance of chromosomes protein 4 isoform X4

    Conserved Domains (3) summary
    cd03274
    Location:845939
    ABC_SMC4_euk; ATP-binding cassette domain of eukaryotic SMC4 proteins
    smart00968
    Location:277391
    SMC_hinge; SMC proteins Flexible Hinge Domain
    COG1196
    Location:2942
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

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
Support Center