SEPTIN14 septin 14 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 7p11.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (55793540..55862752, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (55953761..56022991, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (55861233..55930445, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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)