Kash5 KASH domain containing 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kash5provided by MGI
Official Full Name: KASH domain containing 5provided by MGI
Primary source: MGI:MGI:2687329
See related: Ensembl:ENSMUSG00000038292 AllianceGenome:MGI:2687329
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm1434; Ccdc155
Summary: Enables dynein complex binding activity and identical protein binding activity. Involved in cytoskeleton organization; spindle localization; and telomere localization. Acts upstream of or within several processes, including double-strand break repair via homologous recombination; homologous chromosome segregation; and spermatogenesis. Located in chromosome; meiotic spindle pole; and nuclear outer membrane. Part of meiotic nuclear membrane microtubule tethering complex. Is expressed in ovary; primary spermatocyte; spermatocyte; and testis. Human ortholog(s) of this gene implicated in primary ovarian insufficiency and spermatogenic failure 88. Orthologous to human KASH5 (KASH domain containing 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 31.9) and lung adult (RPKM 1.5) See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.17 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (44833043..44854344, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (45183619..45204919, complement)

Chromosome 7 - NC_000073.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia.
Title: Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia.
Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing.
Title: Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing.
Results provide evidence that SUN1 and KASH5 are essential factors in the regulation of meiotic resumption and spindle formation.
Title: Depletion of the LINC complex disrupts cytoskeleton dynamics and meiotic resumption in mouse oocytes.
ablation of the kinase CDK2 alters the nuclear envelope in mouse spermatocytes, and that the proteins SUN1, KASH5 (also known as CCDC155) and lamin C2 show an abnormal cap-like distribution facing the centrosome.
Title: CDK2 regulates nuclear envelope protein dynamics and telomere attachment in mouse meiotic prophase.
It was shown KASH5 possesses hitherto unknown KASH-related sequences that directly interacted with SUN1 and mediated telomere localization. KASH5 interacted with the microtubule-associated dynein- dynactin complex.
Title: A conserved KASH domain protein associates with telomeres, SUN1, and dynactin during mammalian meiosis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables dynein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein complex binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome localization to nuclear envelope involved in homologous chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chromosome localization to nuclear envelope involved in homologous chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homologous chromosome pairing at meiosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within homologous chromosome pairing at meiosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within meiotic telomere clustering	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within oogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spindle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spindle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in spindle localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in spindle localization	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere localization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in chromosome, telomeric region	IBA Inferred from Biological aspect of Ancestor more info
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
is_active_in lateral element	IBA Inferred from Biological aspect of Ancestor more info
located_in lateral element	IDA Inferred from Direct Assay more info	PubMed
part_of meiotic nuclear membrane microtubule tethering complex	IBA Inferred from Biological aspect of Ancestor more info
part_of meiotic nuclear membrane microtubule tethering complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in meiotic spindle pole	IBA Inferred from Biological aspect of Ancestor more info
located_in meiotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
is_active_in nuclear outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein KASH5

Names: KASH domain-containing protein 5; coiled-coil domain containing 155; coiled-coil domain-containing protein 155

NP_958762.2

EC 3.1.3.48

XP_006541031.1

EC 3.1.3.48

XP_011249173.1

EC 3.1.3.48

XP_017177818.1

EC 3.1.3.48

XP_017177820.1

EC 3.1.3.48

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_201374.2 → NP_958762.2 protein KASH5

See identical proteins and their annotated locations for NP_958762.2

Status: VALIDATED

Source sequence(s)

AC149868

Consensus CDS

CCDS21234.2

UniProtKB/Swiss-Prot

E9QNS3, E9QQ69, Q80VJ8

Related

ENSMUSP00000113616.3, ENSMUST00000121017.5

Conserved Domains (3) summary

pfam14658
Location:108 → 175

EF-hand_9; EF-hand domain

pfam14662
Location:227 → 418

KASH_CCD; Coiled-coil region of CCDC155 or KASH

cl12013
Location:253 → 415

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

44833043..44854344 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011250871.3 → XP_011249173.1 protein KASH5 isoform X2

Conserved Domains (2) summary

pfam14658
Location:38 → 105

EF-hand_9; EF-hand domain

pfam14662
Location:157 → 347

KASH_CCD; Coiled-coil region of CCDC155 or KASH
XM_017322329.2 → XP_017177818.1 protein KASH5 isoform X3

Conserved Domains (2) summary

pfam14658
Location:77 → 144

EF-hand_9; EF-hand domain

pfam14662
Location:196 → 371

KASH_CCD; Coiled-coil region of CCDC155 or KASH
XM_006540968.4 → XP_006541031.1 protein KASH5 isoform X1

Conserved Domains (2) summary

pfam14658
Location:77 → 144

EF-hand_9; EF-hand domain

pfam14662
Location:196 → 386

KASH_CCD; Coiled-coil region of CCDC155 or KASH
XM_017322331.3 → XP_017177820.1 protein KASH5 isoform X4

Conserved Domains (2) summary

pfam14658
Location:77 → 144

EF-hand_9; EF-hand domain

pfam14662
Location:196 → 305

KASH_CCD; Coiled-coil region of CCDC155 or KASH