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SEPTIN7 septin 7 [ Homo sapiens (human) ]

Gene ID: 989, updated on 9-Aug-2021

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
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Genomic context

See SEPTIN7 in Genome Data Viewer
Location:
7p14.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (35800986..35915763)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (35840596..35946720)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506725 Neighboring gene SEPTIN7 divergent transcript 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 Functions

What's a GeneRIF?

Pathways from PubChem

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
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cadherin binding HDA PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of embryonic cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in 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
 
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cell division site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cleavage furrow IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in kinetochore IEA
Inferred from Electronic Annotation
more info
 
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in midbody IEA
Inferred from Electronic Annotation
more info
 
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of septin complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sperm annulus IDA
Inferred from Direct Assay
more info
PubMed 
located_in spindle IEA
Inferred from Electronic Annotation
more info
 
located_in 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)

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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_001011553.4NP_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, AK290545, DC414394
    UniProtKB/TrEMBL
    A8K3D0
    Conserved Domains (2) summary
    cd01850
    Location:46316
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:336432
    PRK12704; phosphodiesterase; Provisional
  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
    PRK12704
    Location:301397
    PRK12704; phosphodiesterase; Provisional
  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
    PRK12704
    Location:284380
    PRK12704; phosphodiesterase; Provisional
  4. NM_001375299.1NP_001362228.1  septin-7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC007551, AC087072
    Related
    ENSP00000381992.4, ENST00000399034.7
    Conserved Domains (2) summary
    cd01850
    Location:1264
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:284380
    PRK12704; phosphodiesterase; Provisional
  5. NM_001788.6NP_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, BF941061, DC414394
    UniProtKB/Swiss-Prot
    Q16181
    Related
    ENSP00000344868.7, ENST00000350320.10
    Conserved Domains (2) summary
    cd01850
    Location:47317
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:337433
    PRK12704; phosphodiesterase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    PRK12704
    Location:334430
    PRK12704; phosphodiesterase; Provisional
  5. XM_017012856.1XP_016868345.1  septin-7 isoform X6

    Conserved Domains (2) summary
    cd01850
    Location:45315
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:359431
    PRK12704; phosphodiesterase; Provisional
  6. XM_017012855.1XP_016868344.1  septin-7 isoform X3

  7. 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)
  8. 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)
  9. 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)
  10. 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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