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SEPTIN7 septin 7 [ Homo sapiens (human) ]

Gene ID: 989, updated on 19-Jun-2019

Summary

Official Symbol
SEPTIN7provided by HGNC
Official Full Name
septin 7provided by HGNC
Primary source
HGNC:HGNC:1717
See related
Ensembl:ENSG00000122545 MIM:603151
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
CDC3; CDC10; SEPT7; SEPT7A; NBLA02942
Summary
This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]
Expression
Ubiquitous expression in brain (RPKM 77.8), lymph node (RPKM 34.7) and 24 other tissues See more
Orthologs

Genomic context

See SEPTIN7 in Genome Data Viewer
Location:
7p14.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (35800986..35915763)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (35840596..35946715)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506725 Neighboring gene SEPT7 antisense RNA 1 (head to head) Neighboring gene glycine cleavage system protein H (aminomethyl carrier) pseudogene Neighboring gene gem-associated protein 7-like Neighboring gene zinc finger protein 383 pseudogene Neighboring gene RNA, U6 small nuclear 1085, pseudogene

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

  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • MAPK6/MAPK4 signaling, organism-specific biosystem (from REACTOME)
    MAPK6/MAPK4 signaling, organism-specific biosystemMAPK6 and MAPK4 (also known as ERK3 and ERK4) are vertebrate-specific atypical MAP kinases. Atypical MAPK are less well characterized than their conventional counterparts, and are generally classifi...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686M10191

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cadherin binding HDA PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein heterooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of embryonic cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
cleavage furrow IEA
Inferred from Electronic Annotation
more info
 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midbody IEA
Inferred from Electronic Annotation
more info
 
non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
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 ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm annulus IDA
Inferred from Direct Assay
more info
PubMed 
spindle IEA
Inferred from Electronic Annotation
more info
 
stress fiber IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
septin-7
Names
CDC10 (cell division cycle 10, S. cerevisiae, homolog)
CDC10 protein homolog
septin 7 variant 4

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.

mRNA and Protein(s)

  1. NM_001011553.3NP_001011553.2  septin-7 isoform 2

    See identical proteins and their annotated locations for NP_001011553.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
    Source sequence(s)
    AC007551, AC087072, AI651908, AK290545, DC414394
    UniProtKB/TrEMBL
    A8K3D0
    Related
    ENSP00000344868.7, ENST00000350320.10
    Conserved Domains (2) summary
    cd01850
    Location:46316
    CDC_Septin; CDC/Septin GTPase family
    cl25602
    Location:336432
    DUF3552; Domain of unknown function (DUF3552)
  2. NM_001242956.1NP_001229885.1  septin-7 isoform 3

    See identical proteins and their annotated locations for NP_001229885.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is 36 aa shorter than isoform 1.
    Source sequence(s)
    AC007551, AC087072, AI651908, AK297883, DC414394
    Consensus CDS
    CCDS75582.1
    UniProtKB/TrEMBL
    B4DNE4, G3V1Q4
    Related
    ENSP00000413507.2, ENST00000435235.6
    Conserved Domains (2) summary
    cd01850
    Location:21281
    CDC_Septin; CDC/Septin GTPase family
    pfam17380
    Location:259393
    DUF5401; Family of unknown function (DUF5401)
  3. NM_001363715.2NP_001350644.1  septin-7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC007551, AC087072
    Consensus CDS
    CCDS87494.1
    Conserved Domains (2) summary
    cd01850
    Location:1264
    CDC_Septin; CDC/Septin GTPase family
    pfam17380
    Location:242376
    DUF5401; Family of unknown function (DUF5401)
  4. NM_001788.5NP_001779.3  septin-7 isoform 1

    See identical proteins and their annotated locations for NP_001779.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC007551, AC087072, AI651908, BC093640, DC414394
    UniProtKB/Swiss-Prot
    Q16181
    Conserved Domains (2) summary
    cd01850
    Location:47317
    CDC_Septin; CDC/Septin GTPase family
    pfam17380
    Location:295429
    DUF5401; Family of unknown function (DUF5401)

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    35800986..35915763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515661.2XP_011513963.1  septin-7 isoform X4

    Conserved Domains (2) summary
    cd01850
    Location:47317
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:29407
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  2. XM_011515656.2XP_011513958.1  septin-7 isoform X1

    Conserved Domains (2) summary
    cd01850
    Location:47317
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:29419
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  3. XM_006715806.3XP_006715869.1  septin-7 isoform X2

    Conserved Domains (3) summary
    cd01850
    Location:47317
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:29421
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cl19842
    Location:349446
    DUF2213; Uncharacterized protein conserved in bacteria (DUF2213)
  4. XM_017012857.1XP_016868346.1  septin-7 isoform X7

    Conserved Domains (2) summary
    cd01850
    Location:44314
    CDC_Septin; CDC/Septin GTPase family
    cl25602
    Location:334430
    DUF3552; Domain of unknown function (DUF3552)
  5. XM_017012856.1XP_016868345.1  septin-7 isoform X6

    Conserved Domains (2) summary
    cd01850
    Location:45315
    CDC_Septin; CDC/Septin GTPase family
    cl25602
    Location:359431
    DUF3552; Domain of unknown function (DUF3552)
  6. XM_017012855.1XP_016868344.1  septin-7 isoform X3

  7. XM_024447010.1XP_024302778.1  septin-7 isoform X5

    Conserved Domains (2) summary
    cd01850
    Location:46316
    CDC_Septin; CDC/Septin GTPase family
    cl25602
    Location:336432
    DUF3552; Domain of unknown function (DUF3552)
  8. XM_017012859.1XP_016868348.1  septin-7 isoform X8

    UniProtKB/TrEMBL
    A0A023T695
    Conserved Domains (3) summary
    cd01850
    Location:27287
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:27380
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cl19842
    Location:308405
    DUF2213; Uncharacterized protein conserved in bacteria (DUF2213)
  9. XM_017012861.1XP_016868350.1  septin-7 isoform X8

    UniProtKB/TrEMBL
    A0A023T695
    Conserved Domains (3) summary
    cd01850
    Location:27287
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:27380
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cl19842
    Location:308405
    DUF2213; Uncharacterized protein conserved in bacteria (DUF2213)
  10. XM_017012860.1XP_016868349.1  septin-7 isoform X8

    UniProtKB/TrEMBL
    A0A023T695
    Conserved Domains (3) summary
    cd01850
    Location:27287
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:27380
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cl19842
    Location:308405
    DUF2213; Uncharacterized protein conserved in bacteria (DUF2213)
  11. XM_017012862.1XP_016868351.1  septin-7 isoform X9

    UniProtKB/TrEMBL
    A0A024RA87
    Related
    ENSP00000381992.4, ENST00000399034.7
    Conserved Domains (2) summary
    cd01850
    Location:1264
    CDC_Septin; CDC/Septin GTPase family
    pfam17380
    Location:242376
    DUF5401; Family of unknown function (DUF5401)
  12. XM_017012858.2XP_016868347.1  septin-7 isoform X8

    UniProtKB/TrEMBL
    A0A023T695
    Conserved Domains (3) summary
    cd01850
    Location:27287
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:27380
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cl19842
    Location:308405
    DUF2213; Uncharacterized protein conserved in bacteria (DUF2213)
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