KASH5 KASH domain containing 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KASH5provided by HGNC
Official Full Name: KASH domain containing 5provided by HGNC
Primary source: HGNC:HGNC:26520
See related: Ensembl:ENSG00000161609 MIM:618125; AllianceGenome:HGNC:26520
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: POF22; SPGF88; CCDC155
Summary: Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cytoskeleton organization; homologous chromosome segregation; and spindle localization. Predicted to act upstream of or within double-strand break repair via homologous recombination; oogenesis; and spermatogenesis. Predicted to be integral component of membrane. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in chromosome; meiotic spindle pole; and nuclear outer membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 13.2) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49388249..49417990)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52385679..52415421)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49891506..49921247)

Chromosome 19 - NC_000019.10 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
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?

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.
A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans.
Title: A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans.
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.
Title: Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.
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.
A human infertility-associated KASH5 variant promotes mitochondrial localization.
Title: A human infertility-associated KASH5 variant promotes mitochondrial localization.
Structural Analysis of Different LINC Complexes Reveals Distinct Binding Modes.
Title: Structural Analysis of Different LINC Complexes Reveals Distinct Binding Modes.

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

Associated conditions

Description	Tests
Premature ovarian failure 22 MedGen: CN375626 OMIM: 620548 GeneReviews: Not available	not available
Spermatogenic failure 88 MedGen: CN375625 OMIM: 620547 GeneReviews: Not available	not available

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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Markers

SHGC-152437 (e-PCR)
- UniSTS:183058

SHGC-151229 (e-PCR)
- UniSTS:173590

RH104123 (e-PCR)
- UniSTS:98448

RH92075 (e-PCR)
- UniSTS:83634

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
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 chromosome localization to nuclear envelope involved in homologous chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IEA Inferred from Electronic Annotation more info
involved_in homologous chromosome pairing at meiosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in meiotic telomere clustering	IEA Inferred from Electronic Annotation more info
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in spindle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spindle localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere localization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in chromosome, telomeric region	IBA Inferred from Biological aspect of Ancestor more info
located_in chromosome, telomeric region	ISS Inferred from Sequence or Structural Similarity more info
is_active_in lateral element	IBA Inferred from Biological aspect of Ancestor more info
part_of meiotic nuclear membrane microtubule tethering complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in meiotic spindle pole	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nuclear outer membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein KASH5

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

NP_653289.3

EC 3.1.3.48

XP_005258606.1

EC 3.1.3.48

XP_011524790.1

EC 3.1.3.48

XP_011524791.1

EC 3.1.3.48

XP_011524792.1

EC 3.1.3.48

XP_011524796.1

EC 3.1.3.48

XP_011524797.1

EC 3.1.3.48

XP_011524799.1

EC 3.1.3.48

XP_016881822.1

EC 3.1.3.48

XP_054175863.1

EC 3.1.3.48

XP_054175864.1

EC 3.1.3.48

XP_054175865.1

EC 3.1.3.48

XP_054175866.1

EC 3.1.3.48

XP_054175867.1

EC 3.1.3.48

XP_054175868.1

EC 3.1.3.48

XP_054175869.1

EC 3.1.3.48

XP_054175870.1

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_144688.5 → NP_653289.3 protein KASH5

See identical proteins and their annotated locations for NP_653289.3

Status: VALIDATED

Source sequence(s)

AK057220, DB024870, DB517121

Consensus CDS

CCDS46140.1

UniProtKB/Swiss-Prot

Q8N6L0, Q96MC3

UniProtKB/TrEMBL

M0QZW6

Related

ENSP00000404220.2, ENST00000447857.8

Conserved Domains (4) summary

COG3352
Location:211 → 354

FlaC; Archaellum component FlaC [Cell motility]

pfam14658
Location:38 → 105

EF-hand_9; EF-hand domain

pfam14662
Location:173 → 348

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam16046
Location:197 → 273

FAM76; FAM76 protein

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

49388249..49417990

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526489.4 → XP_011524791.1 protein KASH5 isoform X1

See identical proteins and their annotated locations for XP_011524791.1

UniProtKB/TrEMBL

M0QZW6

Conserved Domains (4) summary

COG3352
Location:211 → 354

FlaC; Archaellum component FlaC [Cell motility]

pfam14658
Location:38 → 105

EF-hand_9; EF-hand domain

pfam14662
Location:173 → 348

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam16046
Location:197 → 273

FAM76; FAM76 protein
XM_011526495.3 → XP_011524797.1 protein KASH5 isoform X6

See identical proteins and their annotated locations for XP_011524797.1

UniProtKB/TrEMBL

M0QZW6

Conserved Domains (4) summary

COG3352
Location:184 → 327

FlaC; Archaellum component FlaC [Cell motility]

pfam14658
Location:11 → 78

EF-hand_9; EF-hand domain

pfam14662
Location:146 → 321

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam16046
Location:170 → 246

FAM76; FAM76 protein
XM_011526494.3 → XP_011524796.1 protein KASH5 isoform X5

UniProtKB/TrEMBL

M0QZW6

Conserved Domains (4) summary

COG3352
Location:197 → 340

FlaC; Archaellum component FlaC [Cell motility]

pfam14658
Location:24 → 91

EF-hand_9; EF-hand domain

pfam14662
Location:159 → 334

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam16046
Location:183 → 259

FAM76; FAM76 protein
XM_011526488.3 → XP_011524790.1 protein KASH5 isoform X1

See identical proteins and their annotated locations for XP_011524790.1

UniProtKB/TrEMBL

M0QZW6

Conserved Domains (4) summary

COG3352
Location:211 → 354

FlaC; Archaellum component FlaC [Cell motility]

pfam14658
Location:38 → 105

EF-hand_9; EF-hand domain

pfam14662
Location:173 → 348

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam16046
Location:197 → 273

FAM76; FAM76 protein
XM_005258549.4 → XP_005258606.1 protein KASH5 isoform X4

Conserved Domains (4) summary

COG3352
Location:211 → 354

FlaC; Archaellum component FlaC [Cell motility]

pfam14658
Location:38 → 105

EF-hand_9; EF-hand domain

pfam14662
Location:173 → 348

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam16046
Location:197 → 273

FAM76; FAM76 protein
XM_011526490.3 → XP_011524792.1 protein KASH5 isoform X2

UniProtKB/TrEMBL

M0QZW6

Related

ENSP00000470819.1, ENST00000600570.1

Conserved Domains (4) summary

COG3352
Location:211 → 354

FlaC; Archaellum component FlaC [Cell motility]

pfam14658
Location:38 → 105

EF-hand_9; EF-hand domain

pfam14662
Location:173 → 348

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam16046
Location:197 → 273

FAM76; FAM76 protein
XM_011526497.3 → XP_011524799.1 protein KASH5 isoform X1

See identical proteins and their annotated locations for XP_011524799.1

UniProtKB/TrEMBL

M0QZW6

Conserved Domains (4) summary

COG3352
Location:211 → 354

FlaC; Archaellum component FlaC [Cell motility]

pfam14658
Location:38 → 105

EF-hand_9; EF-hand domain

pfam14662
Location:173 → 348

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam16046
Location:197 → 273

FAM76; FAM76 protein
XM_017026333.2 → XP_016881822.1 protein KASH5 isoform X3

UniProtKB/TrEMBL

M0QZW6

Conserved Domains (4) summary

COG3352
Location:205 → 348

FlaC; Archaellum component FlaC [Cell motility]

pfam14658
Location:32 → 99

EF-hand_9; EF-hand domain

pfam14662
Location:167 → 342

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam16046
Location:191 → 267

FAM76; FAM76 protein