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SEPTIN14 septin 14 [ Homo sapiens (human) ]

Gene ID: 346288, updated on 10-Dec-2019

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

Genomic context

See SEPTIN14 in Genome Data Viewer
Location:
7p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (55793540..55862752, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (55861237..55930482, 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 FRA7A repeat instability region Neighboring gene zinc finger protein 713

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

Phenotypes

NHGRI GWAS Catalog

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

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
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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.

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.

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)
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