Format

Send to:

Choose Destination

SEPTIN14 septin 14 [ Homo sapiens (human) ]

Gene ID: 346288, updated on 23-Nov-2021

Summary

Official Symbol
SEPTIN14provided by HGNC
Official Full Name
septin 14provided by HGNC
Primary source
HGNC:HGNC:33280
See related
Ensembl:ENSG00000154997 MIM:612140
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SEPT14
Summary
SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]
Expression
Restricted expression toward testis (RPKM 12.4) See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SEPTIN14 in Genome Data Viewer
Location:
7p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (55793540..55862752, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (55861233..55930445, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene phosphoserine phosphatase pseudogene 1 Neighboring gene RNA, U6 small nuclear 1126, pseudogene Neighboring gene cell division cycle associated 8 pseudogene Neighboring gene capicua transcriptional repressor pseudogene 12 Neighboring gene cell division cycle 42 pseudogene Neighboring gene zinc finger protein 713 Neighboring gene fragile site, folic acid type, rare, fra(7)(p11.2)

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44060

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 molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein localization to perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in spermatid development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in acrosomal vesicle IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perikaryon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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.

mRNA and Protein(s)

  1. NM_207366.3NP_997249.2  septin-14

    See identical proteins and their annotated locations for NP_997249.2

    Status: VALIDATED

    Source sequence(s)
    AC092647, AI337138, AL041480, DB087561, DB341209, DC400351
    Consensus CDS
    CCDS5519.2
    UniProtKB/Swiss-Prot
    Q6ZU15
    Related
    ENSP00000373627.3, ENST00000388975.4
    Conserved Domains (3) summary
    cd01850
    Location:49317
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:34403
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cl19219
    Location:328403
    DUF342; Protein of unknown function (DUF342)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    55793540..55862752 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515373.2XP_011513675.1  septin-14 isoform X1

    See identical proteins and their annotated locations for XP_011513675.1

    UniProtKB/Swiss-Prot
    Q6ZU15
    Conserved Domains (3) summary
    cd01850
    Location:49317
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:34403
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cl19219
    Location:328403
    DUF342; Protein of unknown function (DUF342)
Support Center