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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
    NEW
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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