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

Gene ID: 147872, updated on 2-Nov-2024

Summary

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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 several processes, including double-strand break repair via homologous recombination; meiotic telomere clustering; and spermatogenesis. Predicted to be located in chromosome; membrane; and nuclear envelope. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in chromosome; meiotic spindle pole; and nuclear outer membrane. Implicated in primary ovarian insufficiency and spermatogenic failure 88. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 13.2) See more
Orthologs
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Genomic context

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See KASH5 in Genome Data Viewer
Location:
19q13.33
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49388249..49417990)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52385679..52415421)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49891506..49921247)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14936 Neighboring gene CD37 molecule Neighboring gene TEA domain transcription factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49863002-49863502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49864048-49864757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49864758-49865466 Neighboring gene uncharacterized LOC101928295 Neighboring gene dickkopf like acrosomal protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14937 Neighboring gene uncharacterized LOC124904740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49918083-49918637 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49918638-49919191 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49926814-49927017 Neighboring gene parathyroid hormone 2 Neighboring gene golgi associated olfactory signaling regulator

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 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. A human infertility-associated KASH5 variant promotes mitochondrial localization. Bentebbal SA, et al. Sci Rep, 2021 May 12. PMID 33980926, Free PMC Article
  2. A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans. Hou X, et al. Front Endocrinol (Lausanne), 2023. PMID 36864840, Free PMC Article
  3. Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing. Zhang Q, et al. J Clin Endocrinol Metab, 2022 Aug 18. PMID 35708642
  4. Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia. Yang C, et al. Mol Hum Reprod, 2022 Jun 30. PMID 35674372
  5. Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans. Wu H, et al. Hum Genet, 2022 Nov. PMID 35587281

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. A human infertility-associated KASH5 variant promotes mitochondrial localization.
    Title: A human infertility-associated KASH5 variant promotes mitochondrial localization.
  6. 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: C5882707 OMIM: 620548 GeneReviews: Not available
not available
Spermatogenic failure 88
MedGen: C5882706 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)

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

  • FLJ32658, DKFZp434A2223

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
XP_005258606.1
XP_011524790.1
XP_011524791.1
XP_011524792.1
XP_011524796.1
XP_011524797.1
XP_011524799.1
XP_016881822.1
XP_054175863.1
XP_054175864.1
XP_054175865.1
XP_054175866.1
XP_054175867.1
XP_054175868.1
XP_054175869.1
XP_054175870.1

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_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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49388249..49417990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52385679..52415421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319894.1 → XP_054175869.1  protein KASH5 isoform X6

  2. XM_054319893.1 → XP_054175868.1  protein KASH5 isoform X5

  3. XM_054319888.1 → XP_054175863.1  protein KASH5 isoform X1

  4. XM_054319892.1 → XP_054175867.1  protein KASH5 isoform X4

  5. XM_054319890.1 → XP_054175865.1  protein KASH5 isoform X2

  6. XM_054319889.1 → XP_054175864.1  protein KASH5 isoform X1

  7. XM_054319895.1 → XP_054175870.1  protein KASH5 isoform X1

  8. XM_054319891.1 → XP_054175866.1  protein KASH5 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N6L0.2 GenPept UniProtKB/Swiss-Prot:Q8N6L0

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