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SEPTIN14 septin 14 [ Homo sapiens (human) ]

Gene ID: 346288, updated on 11-Apr-2024

Summary

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Official Symbol
SEPTIN14provided by HGNC
Official Full Name
septin 14provided by HGNC
Primary source
HGNC:HGNC:33280
See related
Ensembl:ENSG00000154997 MIM:612140; AllianceGenome:HGNC:33280
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; Septin-14
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
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Genomic context

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Location:
7p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (55793540..55862752, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (55953761..56022991, complement)
105.20220307 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 H3K4me1 hESC enhancer GRCh37_chr7:55842651-55843150 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 ATAC-STARR-seq lymphoblastoid active region 26042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18191 Neighboring gene zinc finger protein 713 Neighboring gene fragile site, folic acid type, rare, fra(7)(p11.2) Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:55979512-55980711

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Expression and localization of Septin 14 gene and protein in infertile men testis. Vahabi Barzi N, et al. Reprod Biol, 2020 Jun. PMID 32249155
  2. SEPT14 Mutations and Teratozoospermia: Genetic Effects on Sperm Head Morphology and DNA Integrity. Wang YY, et al. J Clin Med, 2019 Aug 23. PMID 31450874, Free PMC Article
  3. SEPT14 Is Associated with a Reduced Risk for Parkinson's Disease and Expressed in Human Brain. Rozenkrantz L, et al. J Mol Neurosci, 2016 Jul. PMID 27115672
  4. Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin. Peterson EA, et al. Mamm Genome, 2007 Nov. PMID 17922164
  5. ACTN4 Mediates SEPT14 Mutation-Induced Sperm Head Defects. Lin YH, et al. Biomedicines, 2020 Nov 19. PMID 33228246, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. X-ray structure of the metastable SEPT14-SEPT7 coiled coil reveals a hendecad region crucial for heterodimerization.
    Title: X-ray structure of the metastable SEPT14-SEPT7 coiled coil reveals a hendecad region crucial for heterodimerization.
  2. Expression and localization of Septin 14 gene and protein in infertile men testis.
    Title: Expression and localization of Septin 14 gene and protein in infertile men testis.
  3. The three SEPT14 SNPs defined a protective haplotype which significantly reduced the risk for Parkinson disease was found to be expressed in the brain.
    Title: SEPT14 Is Associated with a Reduced Risk for Parkinson's Disease and Expressed in Human Brain.
  4. SEPT14 maps to 7p11.2 and includes a conserved GTPase domain and a predicted carboxy-terminus coiled-coil domain characteristic of other septins.
    Title: Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
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
  
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
  
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
  
is_active_in septin ring IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
septin-14

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_207366.3 → NP_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
    A6NCC2, B4DXD6, Q6ZU15
    Related
    ENSP00000373627.3, ENST00000388975.4
    Conserved Domains (3) summary
    cd01850
    Location:49 → 317
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:34 → 403
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cl19219
    Location:328 → 403
    DUF342; Protein of unknown function (DUF342)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    55953761..56022991 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZU15.2 GenPept UniProtKB/Swiss-Prot:Q6ZU15

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
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