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AXDND1 axonemal dynein light chain domain containing 1 [ Homo sapiens (human) ]

Gene ID: 126859, updated on 14-Nov-2024

Summary

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Official Symbol
AXDND1provided by HGNC
Official Full Name
axonemal dynein light chain domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26564
See related
Ensembl:ENSG00000162779 AllianceGenome:HGNC:26564
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
C1orf125
Summary
Predicted to be involved in manchette assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 7.6), duodenum (RPKM 0.7) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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See AXDND1 in Genome Data Viewer
Location:
1q25.2
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179365705..179554735)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (178720755..178909737)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179335106..179523870)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1589 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:179263129-179263636 Neighboring gene mitochondrial fission factor pseudogene Neighboring gene sterol O-acyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2151 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:179387043-179387842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179410389-179410889 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 54 Neighboring gene myocyte enhancer factor 2A pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:179486027-179487226 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:179498461-179499286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1590 Neighboring gene NPHS2 stomatin family member, podocin Neighboring gene RNA, U5F small nuclear 2, pseudogene Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene

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. AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans. Houston BJ, et al. Cell Death Dis, 2024 Jul 12. PMID 38997255, Free PMC Article
  2. AXDND1, a novel testis-enriched gene, is required for spermiogenesis and male fertility. Ma Q, et al. Cell Death Discov, 2021 Nov 11. PMID 34759295, Free PMC Article
  3. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Baranzini SE, et al. Hum Mol Genet, 2009 Feb 15. PMID 19010793, Free PMC Article
  4. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Ehret GB, et al. Eur J Hum Genet, 2009 Dec. PMID 19536175, Free PMC Article
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.
    Title: AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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

EBI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
EBI GWAS Catalog

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

Homology

Clone Names

  • FLJ25438, FLJ32940, DKFZp686H1423

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in manchette assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
axonemal dynein light chain domain-containing protein 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.

Genomic

  1. NG_033075.1 RefSeqGene

    Range
    5252..194016
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_144696.6 → NP_653297.3  axonemal dynein light chain domain-containing protein 1

    See identical proteins and their annotated locations for NP_653297.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer, protein-coding transcript.
    Source sequence(s)
    BX647935
    Consensus CDS
    CCDS30948.1
    UniProtKB/Swiss-Prot
    Q5T1B0, Q6AWB2, Q96LJ3, Q96M01
    UniProtKB/TrEMBL
    B1AM31
    Related
    ENSP00000356590.3, ENST00000367618.8
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

RNA

  1. NR_073544.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' end, contains an alternate internal exon, and lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC146823
    Related
    ENST00000511157.5

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    179365705..179554735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509168.2 → XP_011507470.1  axonemal dynein light chain domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011507470.1

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  2. XM_011509169.2 → XP_011507471.1  axonemal dynein light chain domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:240 → 336
    Ax_dynein_light; Axonemal dynein light chain

  3. XM_011509167.4 → XP_011507469.1  axonemal dynein light chain domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011507469.1

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  4. XM_011509166.4 → XP_011507468.1  axonemal dynein light chain domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011507468.1

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  5. XM_024453104.2 → XP_024308872.1  axonemal dynein light chain domain-containing protein 1 isoform X4

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:219 → 315
    Ax_dynein_light; Axonemal dynein light chain

  6. XM_011509165.2 → XP_011507467.1  axonemal dynein light chain domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011507467.1

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  7. XM_011509170.2 → XP_011507472.1  axonemal dynein light chain domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  8. XM_011509174.2 → XP_011507476.1  axonemal dynein light chain domain-containing protein 1 isoform X5

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  9. XM_011509175.2 → XP_011507477.1  axonemal dynein light chain domain-containing protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011507477.1

    UniProtKB/TrEMBL
    B1AM31
    Related
    ENSP00000391716.1, ENST00000434088.1
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  10. XM_011509176.2 → XP_011507478.1  axonemal dynein light chain domain-containing protein 1 isoform X7

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  11. XM_011509171.2 → XP_011507473.1  axonemal dynein light chain domain-containing protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011507473.1

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:219 → 315
    Ax_dynein_light; Axonemal dynein light chain

  12. XM_011509180.2 → XP_011507482.1  axonemal dynein light chain domain-containing protein 1 isoform X10

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  13. XM_011509178.3 → XP_011507480.1  axonemal dynein light chain domain-containing protein 1 isoform X8

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:261 → 357
    Ax_dynein_light; Axonemal dynein light chain

  14. XM_047444817.1 → XP_047300773.1  axonemal dynein light chain domain-containing protein 1 isoform X13

    Related
    ENSP00000482167.1, ENST00000617277.4

  15. XM_024453107.2 → XP_024308875.1  axonemal dynein light chain domain-containing protein 1 isoform X4

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:219 → 315
    Ax_dynein_light; Axonemal dynein light chain

  16. XM_011509179.2 → XP_011507481.1  axonemal dynein light chain domain-containing protein 1 isoform X9

    UniProtKB/TrEMBL
    B1AM31
    Conserved Domains (1) summary
    pfam10211
    Location:49 → 145
    Ax_dynein_light; Axonemal dynein light chain

  17. XM_017000258.2 → XP_016855747.1  axonemal dynein light chain domain-containing protein 1 isoform X12

  18. XM_017000257.2 → XP_016855746.1  axonemal dynein light chain domain-containing protein 1 isoform X11

  19. XM_011509181.3 → XP_011507483.1  axonemal dynein light chain domain-containing protein 1 isoform X14

RNA

  1. XR_921742.3 RNA Sequence

  2. XR_921741.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    178720755..178909737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334258.1 → XP_054190233.1  axonemal dynein light chain domain-containing protein 1 isoform X1

  2. XM_054334259.1 → XP_054190234.1  axonemal dynein light chain domain-containing protein 1 isoform X1

  3. XM_054334265.1 → XP_054190240.1  axonemal dynein light chain domain-containing protein 1 isoform X4

  4. XM_054334260.1 → XP_054190235.1  axonemal dynein light chain domain-containing protein 1 isoform X1

  5. XM_054334262.1 → XP_054190237.1  axonemal dynein light chain domain-containing protein 1 isoform X2

  6. XM_054334257.1 → XP_054190232.1  axonemal dynein light chain domain-containing protein 1 isoform X1

  7. XM_054334263.1 → XP_054190238.1  axonemal dynein light chain domain-containing protein 1 isoform X3

  8. XM_054334267.1 → XP_054190242.1  axonemal dynein light chain domain-containing protein 1 isoform X5

  9. XM_054334268.1 → XP_054190243.1  axonemal dynein light chain domain-containing protein 1 isoform X6

  10. XM_054334269.1 → XP_054190244.1  axonemal dynein light chain domain-containing protein 1 isoform X7

  11. XM_054334264.1 → XP_054190239.1  axonemal dynein light chain domain-containing protein 1 isoform X4

  12. XM_054334272.1 → XP_054190247.1  axonemal dynein light chain domain-containing protein 1 isoform X10

  13. XM_054334270.1 → XP_054190245.1  axonemal dynein light chain domain-containing protein 1 isoform X8

  14. XM_054334275.1 → XP_054190250.1  axonemal dynein light chain domain-containing protein 1 isoform X13

  15. XM_054334266.1 → XP_054190241.1  axonemal dynein light chain domain-containing protein 1 isoform X4

  16. XM_054334261.1 → XP_054190236.1  axonemal dynein light chain domain-containing protein 1 isoform X1

  17. XM_054334271.1 → XP_054190246.1  axonemal dynein light chain domain-containing protein 1 isoform X9

  18. XM_054334274.1 → XP_054190249.1  axonemal dynein light chain domain-containing protein 1 isoform X12

  19. XM_054334273.1 → XP_054190248.1  axonemal dynein light chain domain-containing protein 1 isoform X11

  20. XM_054334276.1 → XP_054190251.1  axonemal dynein light chain domain-containing protein 1 isoform X14

RNA

  1. XR_008485908.1 RNA Sequence

  2. XR_008485909.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_144619.1: Suppressed sequence

    Description
    NM_144619.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

  2. NM_182766.2: Suppressed sequence

    Description
    NM_182766.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T1B0.1 GenPept UniProtKB/Swiss-Prot:Q5T1B0

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