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SEPTIN4 septin 4 [ Homo sapiens (human) ]

Gene ID: 5414, updated on 19-Jun-2019

Summary

Official Symbol
SEPTIN4provided by HGNC
Official Full Name
septin 4provided by HGNC
Primary source
HGNC:HGNC:9165
See related
Ensembl:ENSG00000108387 Ensembl:ENSG00000181013 MIM:603696
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; 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

Genomic context

See SEPTIN4 in Genome Data Viewer
Location:
17q22
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (58520250..58544372, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56597611..56618179, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene heat shock transcription factor 5 Neighboring gene SET pseudogene 3 Neighboring gene myotubularin related protein 4 Neighboring gene SEPT4 antisense RNA 1 Neighboring gene uncharacterized LOC107985048 Neighboring gene testis expressed 14, intercellular bridge forming factor Neighboring gene uncharacterized LOC105371842

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?

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis - multiple species, organism-specific biosystem (from KEGG)
    Apoptosis - multiple species, organism-specific biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
  • Apoptosis - multiple species, conserved biosystem (from KEGG)
    Apoptosis - multiple species, conserved biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40121, MGC33599

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
magnesium ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm capacitation IEA
Inferred from Electronic Annotation
more info
 
sperm mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin complex IDA
Inferred from Direct Assay
more info
PubMed 
septin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm annulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm annulus IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    5001..25569
    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_001198713.1NP_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, AK294094, 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_001256782.1NP_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_001256822.1NP_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/Swiss-Prot
    O43236
    Related
    ENSP00000463768.1, ENST00000583114.5
    Conserved Domains (1) summary
    pfam00735
    Location:1267
    Septin; Septin
  5. NM_001363803.1NP_001350732.1  septin-4 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC005666
    Consensus CDS
    CCDS86620.1
    Conserved Domains (1) summary
    pfam00735
    Location:43315
    Septin; Septin
  6. NM_001368771.1NP_001355700.1  septin-4 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC005666
  7. NM_001368772.1NP_001355701.1  septin-4 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC005666, DB447493
  8. NM_004574.4NP_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, AK294094, DA076433, DA180095
    Consensus CDS
    CCDS11610.1
    UniProtKB/Swiss-Prot
    O43236
    Related
    ENSP00000321674.3, ENST00000317268.7
    Conserved Domains (1) summary
    pfam00735
    Location:142414
    Septin; Septin
  9. NM_080415.3NP_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, AK294094, 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_080416.3NP_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, AK294094, 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_037155.2 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, DA180095
    Related
    ENST00000583273.5
  2. NR_104196.1 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_104197.1 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: 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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    58520250..58544372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721949.3XP_006722012.1  septin-4 isoform X1

    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
  2. XM_011524911.1XP_011523213.1  septin-4 isoform X2

    See identical proteins and their annotated locations for XP_011523213.1

    UniProtKB/Swiss-Prot
    O43236
    Conserved Domains (1) summary
    pfam00735
    Location:1267
    Septin; Septin
  3. XM_024450808.1XP_024306576.1  septin-4 isoform X2

    Conserved Domains (1) summary
    pfam00735
    Location:1267
    Septin; Septin
  4. XM_006721954.3XP_006722017.1  septin-4 isoform X2

    See identical proteins and their annotated locations for XP_006722017.1

    UniProtKB/Swiss-Prot
    O43236
    Conserved Domains (1) summary
    pfam00735
    Location:1267
    Septin; Septin
  5. XM_006721950.4XP_006722013.1  septin-4 isoform X3

    Conserved Domains (2) summary
    COG5019
    Location:30382
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00735
    Location:47320
    Septin; Septin
  6. XM_006721952.3XP_006722015.1  septin-4 isoform X5

    Conserved Domains (2) summary
    COG5019
    Location:6358
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00735
    Location:23296
    Septin; Septin
  7. XM_024450807.1XP_024306575.1  septin-4 isoform X2

    Conserved Domains (1) summary
    pfam00735
    Location:1267
    Septin; Septin
  8. XM_006721955.3XP_006722018.1  septin-4 isoform X2

    See identical proteins and their annotated locations for XP_006722018.1

    UniProtKB/Swiss-Prot
    O43236
    Conserved Domains (1) summary
    pfam00735
    Location:1267
    Septin; Septin
  9. XM_011524912.2XP_011523214.1  septin-4 isoform X2

    See identical proteins and their annotated locations for XP_011523214.1

    UniProtKB/Swiss-Prot
    O43236
    Conserved Domains (1) summary
    pfam00735
    Location:1267
    Septin; Septin
  10. XM_011524637.2XP_011522939.1  septin-4 isoform X1

  11. XM_017024498.2XP_016879987.1  septin-4 isoform X2

RNA

  1. XR_002958033.1 RNA Sequence

  2. XR_002958039.1 RNA Sequence

  3. XR_002958032.1 RNA Sequence

    Related
    ENST00000577440.5
  4. XR_002958034.1 RNA Sequence

  5. XR_002958036.1 RNA Sequence

  6. XR_002958031.1 RNA Sequence

  7. XR_002958035.1 RNA Sequence

  8. XR_002958038.1 RNA Sequence

  9. XR_002958040.1 RNA Sequence

  10. XR_002958037.1 RNA Sequence

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.
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