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

Gene ID: 126859, updated on 5-Aug-2022

Summary

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
Expression
Biased expression in testis (RPKM 7.6), duodenum (RPKM 0.7) and 3 other tissues See more
Orthologs
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Genomic context

See AXDND1 in Genome Data Viewer
Location:
1q25.2
Exon count:
33
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179365705..179554735)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (178721021..178909737)
105.20220307 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 mitochondrial fission factor pseudogene Neighboring gene sterol O-acyltransferase 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 54 Neighboring gene myocyte enhancer factor 2A pseudogene 1 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25438, FLJ32940, DKFZp686H1423

General protein information

Preferred Names
axonemal dynein light chain domain-containing protein 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_144696.6NP_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, Q96M01
    Related
    ENSP00000356590.3, ENST00000367618.8
    Conserved Domains (1) summary
    pfam10211
    Location:261357
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011509168.2XP_011507470.1  axonemal dynein light chain domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011507470.1

    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  2. XM_011509169.2XP_011507471.1  axonemal dynein light chain domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    pfam10211
    Location:240336
    Ax_dynein_light; Axonemal dynein light chain
  3. XM_011509167.4XP_011507469.1  axonemal dynein light chain domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011507469.1

    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  4. XM_011509166.4XP_011507468.1  axonemal dynein light chain domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011507468.1

    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  5. XM_024453104.2XP_024308872.1  axonemal dynein light chain domain-containing protein 1 isoform X4

    Conserved Domains (1) summary
    pfam10211
    Location:219315
    Ax_dynein_light; Axonemal dynein light chain
  6. XM_011509165.2XP_011507467.1  axonemal dynein light chain domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011507467.1

    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  7. XM_011509170.2XP_011507472.1  axonemal dynein light chain domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  8. XM_011509174.2XP_011507476.1  axonemal dynein light chain domain-containing protein 1 isoform X5

    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  9. XM_011509175.2XP_011507477.1  axonemal dynein light chain domain-containing protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011507477.1

    Related
    ENSP00000391716.1, ENST00000434088.1
    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  10. XM_011509176.2XP_011507478.1  axonemal dynein light chain domain-containing protein 1 isoform X7

    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  11. XM_011509171.2XP_011507473.1  axonemal dynein light chain domain-containing protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011507473.1

    Conserved Domains (1) summary
    pfam10211
    Location:219315
    Ax_dynein_light; Axonemal dynein light chain
  12. XM_011509180.2XP_011507482.1  axonemal dynein light chain domain-containing protein 1 isoform X10

    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  13. XM_011509178.3XP_011507480.1  axonemal dynein light chain domain-containing protein 1 isoform X8

    Conserved Domains (1) summary
    pfam10211
    Location:261357
    Ax_dynein_light; Axonemal dynein light chain
  14. XM_047444817.1XP_047300773.1  axonemal dynein light chain domain-containing protein 1 isoform X13

    Related
    ENSP00000482167.1, ENST00000617277.4
  15. XM_024453107.2XP_024308875.1  axonemal dynein light chain domain-containing protein 1 isoform X4

    Conserved Domains (1) summary
    pfam10211
    Location:219315
    Ax_dynein_light; Axonemal dynein light chain
  16. XM_011509179.2XP_011507481.1  axonemal dynein light chain domain-containing protein 1 isoform X9

    Conserved Domains (1) summary
    pfam10211
    Location:49145
    Ax_dynein_light; Axonemal dynein light chain
  17. XM_017000258.2XP_016855747.1  axonemal dynein light chain domain-containing protein 1 isoform X12

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

  19. XM_011509181.3XP_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
    178721021..178909737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.