U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    SEPTIN4 septin 4 [ Homo sapiens (human) ]

    Gene ID: 5414, updated on 2-Nov-2024

    Summary

    Official Symbol
    SEPTIN4provided by HGNC
    Official Full Name
    septin 4provided by HGNC
    Primary source
    HGNC:HGNC:9165
    See related
    Ensembl:ENSG00000108387 MIM:603696; AllianceGenome:HGNC:9165
    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
    H5; ARTS; MART; SEP4; CE5B3; SEPT4; PNUTL2; hucep-7; BRADEION; C17orf47; Septin-4; hCDCREL-2
    Summary
    This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
    Expression
    Biased expression in brain (RPKM 37.9), adrenal (RPKM 26.6) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SEPTIN4 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (58520256..58544328, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59388127..59412197, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56597617..56621689, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene heat shock transcription factor 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8770 Neighboring gene SET pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8771 Neighboring gene myotubularin related protein 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56595757-56596502 Neighboring gene SEPTIN4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56606301-56606801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56608575-56609075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12485 Neighboring gene MPRA-validated peak2918 silencer Neighboring gene uncharacterized LOC107985048 Neighboring gene testis expressed 14, intercellular bridge forming factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12487 Neighboring gene uncharacterized LOC124904154

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    Meta-analysis identifies four new loci associated with testicular germ cell tumor.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ40121, MGC33599

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables magnesium ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cytoskeleton-dependent cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hematopoietic stem cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatid differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cell division site IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in dopaminergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in presynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of septin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of septin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of septin complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in septin ring IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in sperm annulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sperm annulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    septin-4
    Names
    CE5B3 beta
    apoptosis-related protein in the TGF-beta signaling pathway
    bradeion beta
    brain protein H5
    cell division control-related protein 2
    cerebral protein 7
    peanut-like protein 2
    septin-M
    uncharacterized protein C17orf47

    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_029570.1 RefSeqGene

      Range
      1491..25563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001038704.4NP_001033793.3  septin-4 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC005666, AK097440, BC022189
      Consensus CDS
      CCDS32691.1
      Related
      ENSP00000354874.2, ENST00000321691.3
      Conserved Domains (1) summary
      pfam15548
      Location:2534
      DUF4655; Domain of unknown function (DUF4655)
    2. NM_001198713.2NP_001185642.1  septin-4 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate 5' exon compared to variant 7, resulting in translation initiation from an alternate start codon and a shorter isoform (4) with a distinct N-terminus compared to isoform 5. This variant appears to be testis-specific.
      Source sequence(s)
      AF073312, AK301914
      Consensus CDS
      CCDS56041.1
      UniProtKB/Swiss-Prot
      O43236
      Related
      ENSP00000414779.3, ENST00000412945.7
      Conserved Domains (2) summary
      COG5019
      Location:116468
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00735
      Location:133406
      Septin; Septin
    3. NM_001256782.2NP_001243711.1  septin-4 isoform 5

      See identical proteins and their annotated locations for NP_001243711.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) encodes the longest isoform (5).
      Source sequence(s)
      AK294094, AK301914, BC142968
      Consensus CDS
      CCDS58582.1
      UniProtKB/Swiss-Prot
      O43236
      Related
      ENSP00000402000.2, ENST00000457347.6
      Conserved Domains (2) summary
      COG5019
      Location:139491
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00735
      Location:156429
      Septin; Septin
    4. NM_001256822.2NP_001243751.1  septin-4 isoform 6

      See identical proteins and their annotated locations for NP_001243751.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 7. The encoded isoform (6) is shorter than isoform 5.
      Source sequence(s)
      AC005666, AK294094, DA343015
      Consensus CDS
      CCDS58581.1
      UniProtKB/TrEMBL
      J3QRT6
      Related
      ENSP00000463768.1, ENST00000583114.5
      Conserved Domains (1) summary
      pfam00735
      Location:1267
      Septin; Septin
    5. NM_001363803.2NP_001350732.1  septin-4 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC005666
      Consensus CDS
      CCDS86620.1
      UniProtKB/TrEMBL
      J3KSZ7, J3QRT6
      Related
      ENSP00000462727.1, ENST00000580844.5
      Conserved Domains (1) summary
      pfam00735
      Location:43315
      Septin; Septin
    6. NM_001368771.2NP_001355700.1  septin-4 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC005666
      Consensus CDS
      CCDS92368.1
      Related
      ENSP00000500383.1, ENST00000672673.2
      Conserved Domains (2) summary
      pfam00735
      Location:660932
      Septin
      pfam15548
      Location:2534
      DUF4655; Domain of unknown function (DUF4655)
    7. NM_001368772.2NP_001355701.1  septin-4 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC005666
      Conserved Domains (1) summary
      pfam00735
      Location:135407
      Septin
    8. NM_004574.5NP_004565.1  septin-4 isoform 1

      See identical proteins and their annotated locations for NP_004565.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 7. It encodes isoform 1 (also known as PNUTL2a, H5, SEPT4_i1, bradeion beta, hcdcrel2a) which contains a distinct N-terminus and is shorter, compared to isoform 5.
      Source sequence(s)
      AF073312, DA076433
      Consensus CDS
      CCDS11610.1
      UniProtKB/Swiss-Prot
      A0A5F9ZHH3, B2RD42, B3KSX9, B4DXC6, B4DXV5, O43236, Q6IAP3, Q8N821, Q8NEP4, Q9H315, Q9UM58
      Related
      ENSP00000321674.3, ENST00000317268.7
      Conserved Domains (1) summary
      pfam00735
      Location:142414
      Septin; Septin
    9. NM_080415.4NP_536340.1  septin-4 isoform 2

      See identical proteins and their annotated locations for NP_536340.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 7. This transcript contains an early translation termination site, rendering this transcript a candidate for nonsense-mediated mRNA decay (NMD). However, the encoded protein (isoform 2, also known as ARTS, SEPT4_i2), with distinct N- and C-termini compared to isoform 5, has been shown to be expressed in vivo, and characterized as a mitochondrial pro-apoptotic, tumor suppressor protein having a role in cancer (PMIDs: 11146656, 15254396).
      Source sequence(s)
      AF176379, DC361494
      Consensus CDS
      CCDS45743.1
      UniProtKB/Swiss-Prot
      O43236
      Related
      ENSP00000402348.1, ENST00000426861.5
      Conserved Domains (1) summary
      cl21455
      Location:122250
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    10. NM_080416.4NP_536341.1  septin-4 isoform 3

      See identical proteins and their annotated locations for NP_536341.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 7. It encodes isoform 3 (also known as PNUTL2b, hcdcrel2b) with a distinct N-terminus compared to isoform 5.
      Source sequence(s)
      AF073312, DC361494
      Consensus CDS
      CCDS11609.1
      UniProtKB/Swiss-Prot
      O43236
      Related
      ENSP00000321071.6, ENST00000317256.10
      Conserved Domains (2) summary
      COG5019
      Location:105457
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00735
      Location:122395
      Septin; Septin

    RNA

    1. NR_037155.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' and 3' exon structure, compared to variant 7. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB002110, AK294094, DA076433
      Related
      ENST00000583273.5
    2. NR_104196.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate 5' and 3' exon structure, compared to variant 7. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC005666, AK294094, AK315045, DA180095
      Related
      ENST00000584488.5
    3. NR_104197.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) uses an alternate 5' exon structure and includes an alternate internal segment, compared to variant 7. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC005666, AK294094, BC018055, DC361494

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      58520256..58544328 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436309.1XP_047292265.1  septin-4 isoform X4

    2. XM_024450808.2XP_024306576.1  septin-4 isoform X8

      UniProtKB/TrEMBL
      J3QRT6
      Conserved Domains (1) summary
      pfam00735
      Location:1267
      Septin; Septin
    3. XM_006721952.4XP_006722015.1  septin-4 isoform X7

      UniProtKB/TrEMBL
      J3QRT6
      Conserved Domains (2) summary
      COG5019
      Location:6358
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00735
      Location:23296
      Septin; Septin
    4. XM_006721950.5XP_006722013.1  septin-4 isoform X6

      UniProtKB/TrEMBL
      J3QRT6
      Conserved Domains (2) summary
      COG5019
      Location:30382
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00735
      Location:47320
      Septin; Septin
    5. XM_006721949.4XP_006722012.1  septin-4 isoform X5

      See identical proteins and their annotated locations for XP_006722012.1

      Conserved Domains (2) summary
      COG5019
      Location:129481
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00735
      Location:146419
      Septin; Septin
    6. XM_006721955.4XP_006722018.1  septin-4 isoform X8

      See identical proteins and their annotated locations for XP_006722018.1

      UniProtKB/TrEMBL
      J3QRT6
      Conserved Domains (1) summary
      pfam00735
      Location:1267
      Septin; Septin
    7. XM_011524912.3XP_011523214.1  septin-4 isoform X8

      See identical proteins and their annotated locations for XP_011523214.1

      UniProtKB/TrEMBL
      J3QRT6
      Conserved Domains (1) summary
      pfam00735
      Location:1267
      Septin; Septin
    8. XM_047436307.1XP_047292263.1  septin-4 isoform X1

    9. XM_047436308.1XP_047292264.1  septin-4 isoform X2

    10. XM_011524637.3XP_011522939.1  septin-4 isoform X3

      Conserved Domains (1) summary
      pfam15548
      Location:2534
      DUF4655; Domain of unknown function (DUF4655)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      59388127..59412197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316522.1XP_054172497.1  septin-4 isoform X4

    2. XM_054316528.1XP_054172503.1  septin-4 isoform X8

    3. XM_054316525.1XP_054172500.1  septin-4 isoform X7

    4. XM_054316524.1XP_054172499.1  septin-4 isoform X6

    5. XM_054316523.1XP_054172498.1  septin-4 isoform X5

    6. XM_054316526.1XP_054172501.1  septin-4 isoform X8

    7. XM_054316527.1XP_054172502.1  septin-4 isoform X8

    8. XM_054316519.1XP_054172494.1  septin-4 isoform X1

    9. XM_054316520.1XP_054172495.1  septin-4 isoform X2

    10. XM_054316521.1XP_054172496.1  septin-4 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_080417.1: Suppressed sequence

      Description
      NM_080417.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.