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SEPTIN12 septin 12 [ Homo sapiens (human) ]

Gene ID: 124404, updated on 18-Jun-2019

Summary

Official Symbol
SEPTIN12provided by HGNC
Official Full Name
septin 12provided by HGNC
Primary source
HGNC:HGNC:26348
See related
Ensembl:ENSG00000140623 MIM:611562
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
SEPT12; SPGF10
Summary
This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Expression
Restricted expression toward testis (RPKM 30.1) See more
Orthologs

Genomic context

See SEPTIN12 in Genome Data Viewer
Location:
16p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (4777590..4791610, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4827615..4838522, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 3 Neighboring gene Sharpr-MPRA regulatory region 8628 Neighboring gene chromosome 16 open reading frame 71 Neighboring gene zinc finger protein 500 Neighboring gene small integral membrane protein 22 Neighboring gene rogdi atypical leucine zipper Neighboring gene glyoxylate reductase 1 homolog Neighboring gene ubinuclein 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?

Pathways from BioSystems

  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
    Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
    Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ25410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cleavage furrow ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm 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 complex ISS
Inferred from Sequence or Structural Similarity
more info
 
septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm annulus IDA
Inferred from Direct Assay
more info
PubMed 
spindle IDA
Inferred from Direct Assay
more info
PubMed 
stress fiber ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
septin-12
Names
testicular tissue protein Li 168

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_030315.1 RefSeqGene

    Range
    5001..15908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001154458.3NP_001147930.1  septin-12 isoform 1

    See identical proteins and their annotated locations for NP_001147930.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AC020663, DQ456996, EF620906
    Consensus CDS
    CCDS53987.1
    UniProtKB/Swiss-Prot
    Q8IYM1
    UniProtKB/TrEMBL
    A0A140VJU2
    Related
    ENSP00000379922.4, ENST00000396693.9
    Conserved Domains (1) summary
    cd01850
    Location:46271
    CDC_Septin; CDC/Septin GTPase family
  2. NM_144605.5NP_653206.2  septin-12 isoform 2

    See identical proteins and their annotated locations for NP_653206.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the coding region compared to variant 1. The encoded isoform (2) is longer but has the identical N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC020663, EF620906
    Consensus CDS
    CCDS10522.1
    UniProtKB/Swiss-Prot
    Q8IYM1
    Related
    ENSP00000268231.7, ENST00000268231.12
    Conserved Domains (1) summary
    cd01850
    Location:46317
    CDC_Septin; CDC/Septin GTPase family

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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    4777590..4791610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450155.1XP_024305923.1  septin-12 isoform X2

    Conserved Domains (1) summary
    cd01850
    Location:46317
    CDC_Septin; CDC/Septin GTPase family
  2. XM_017022938.1XP_016878427.1  septin-12 isoform X1

  3. XM_011522379.3XP_011520681.1  septin-12 isoform X3

    Conserved Domains (1) summary
    cd01850
    Location:2253
    CDC_Septin; CDC/Septin GTPase family
  4. XM_006720846.2XP_006720909.1  septin-12 isoform X2

    See identical proteins and their annotated locations for XP_006720909.1

    UniProtKB/Swiss-Prot
    Q8IYM1
    Conserved Domains (1) summary
    cd01850
    Location:46317
    CDC_Septin; CDC/Septin GTPase family
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