AXDND1 (axonemal dynein light chain domain containing 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 126859
Gene name Axonemal dynein light chain domain containing 1
Gene symbol AXDND1
Synonyms (NCBI Gene)
C1orf125
Chromosome 1
Chromosome location 1q25.2
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT2179165 hsa-miR-4326 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11 Show/Hide all (11)
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GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 31429579, 34759295
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0005929 Component Cilium IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T1B0
Protein name Axonemal dynein light chain domain-containing protein 1
Protein function May be essential for spermiogenesis and male fertility probably by regulating the manchette dynamics, spermatid head shaping and sperm flagellum assembly.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10211 Ax_dynein_light 200 → 394 Axonemal dynein light chain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. Highly expressed in the round and late spermatids. {ECO:0000269|PubMed:34759295}.
Sequence 
MSLPKTPSTPLNSTSTSESKKLKVSVAKEGTRGLPELKEKKNMVDRSKLLPTSLQNEFIP
KEVLLSLTYAANAGPCPENLLPPKKIKTPKGTLPRLVDHVWHHPVRRNKFKYLIDHPVSL
TGAGRDISFLYDVTYAKGQTREKAVCPPHLARSLQSHDGVIVPHKPKTLTDTLIPEEFHI
VSSTGVSGLECYDDKYTTLLTDSENRLLLFPSMKPNKRVEVAQLNDVMDTMLERAGVENQ
EYTGPTKMHKLLHILKKEQTIYNMIFHELIRQVSVDCADRGELLSKVRERYVQMLDQIAR
QMIDFYKDLVTQRVMDQRILEELYNFKHVIEELTRELCLVRAHDVKLTKETEKAHKDLAQ
ALLNAEKNAKIVEEYHDLYTLQRERMENDMKKLVAERDIWSSATYELALKVIERNRVILA
RRLYLNEKGWNKYTKHFIILLSNKDTEDLALLQKLTQKWRNLVNKLKQEVEQMEESTSET
LKIVKDGLIKWQEFFNEKDILSPNKGNIFNSVLLDFKQWQKILNEKKEEFTGDVLLSKYD
TLKIIKHLQENWADIGLGIFNRHKSLEGEMPSERQYMEEIIKNIQKLYKEYEIRINGDNG
YSKILPSLISSLDFCSFKLENLEFPDTPLEEWQEIDEKINEMKSHLDILLNLTGIVPQHI
DVDSVSVLQAYIFNMIQQWLLKIGNEINNGNIELQHHMDELHISMIQWMVNLLILMIPNF
TDQDCLLKLEEESAEKHDIGVARLELDAIELTRKLYQYSSYLSSCCKGMVTAMALSKSTN
SHKNATEDLYEVDKLKKECYEWINTCSCLLSNIKGRKITLLTYEEIERLLEEEAVKEFIE
PEIDESFKEDEEESKEDRKLQEENKERAEEQPSTSTEKEKLIRFIGEDENVHSKPLFETD
VLSSWRESAKQGTLAQKYLEAMAVIEHMQEKLLEVENRARQAEEKFEDAYEKLHHTLIKN
KDLEELVMTSRKESKEEKENQDEREVKEEEEQQEEEEVRSAENSSKSPKKGH
Sequence length 1012
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Non-obstructive azoospermia Likely pathogenic rs146917473 RCV004555425
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (12)
Phenotype Name Clinical Significance Source Reference Evidence Score
BENIGN ENDOCRINE NEOPLASM — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC NEPHROTIC SYNDROME — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Male infertility Uncertain significance ClinVar
Disgenet 		—
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 37386009 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Idiopathic Nephrotic Syndrome Nephrotic Syndrome CLINVAR_DG 10742096, 11805166, 12464671, 14675423, 14978175, 15015071, 15253708, 15327385, 15496146, 15769810, 15817495, 17899208, 18216321, 18443213, 18823551
View all (21 more)
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Kidney Diseases Kidney disease Pubtator 37386009 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE Nephritis CLINVAR_DG 10742096, 11805166, 12464671, 14675423, 14978175, 15015071, 15253708, 15327385, 15496146, 15769810, 15817495, 17899208, 18216321, 18443213, 18823551
View all (18 more)
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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NPHS2 4 shared diseasesFocal glomerulosclerosis, Nephrotic syndrome, Nephrotic syndrome, steroid-resistant, autosomal recessive, Steroid-resistant nephrotic syndrome 5 shared evidence sourcesDisgenet (Kidney disease), Disgenet (Focal glomerulosclerosis), Disgenet (Nephrotic syndrome), Disgenet (Nephrotic syndrome, steroid-resistant, autosomal recessive), Disgenet (Steroid-resistant nephrotic syndrome) Related via 4 shared diseases including Focal glomerulosclerosis, Nephrotic syndrome — evidence mostly Disgenet. SMARCAL1 3 shared diseasesFocal glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome 4 shared evidence sourcesDisgenet (Kidney disease), Disgenet (Focal glomerulosclerosis), Disgenet (Nephrotic syndrome), Disgenet (Steroid-resistant nephrotic syndrome) Related via 3 shared diseases including Focal glomerulosclerosis, Nephrotic syndrome — evidence mostly Disgenet. NOC3L 2 shared diseasesFocal glomerulosclerosis, Nephrotic syndrome 2 shared evidence sourcesDisgenet (Focal glomerulosclerosis), Disgenet (Nephrotic syndrome) Related via 2 shared diseases including Focal glomerulosclerosis, Nephrotic syndrome — evidence mostly Disgenet. KIRREL2 2 shared diseasesFocal glomerulosclerosis, Nephrotic syndrome 2 shared evidence sourcesDisgenet (Focal glomerulosclerosis), Disgenet (Nephrotic syndrome) Related via 2 shared diseases including Focal glomerulosclerosis, Nephrotic syndrome — evidence mostly Disgenet. PDSS2 2 shared diseasesFocal glomerulosclerosis, Nephrotic syndrome 3 shared evidence sourcesDisgenet (Kidney disease), Disgenet (Focal glomerulosclerosis), Disgenet (Nephrotic syndrome) Related via 2 shared diseases including Focal glomerulosclerosis, Nephrotic syndrome — evidence mostly Disgenet.
Idiopathic steroid-resistant nephrotic syndrome Linked via 1 of 5 related genesNPHS2 Genetic steroid-resistant nephrotic syndrome Linked via 1 of 5 related genesNPHS2 Gout Linked via 1 of 5 related genesNPHS2 Hereditary steroid-resistant nephrotic syndrome Linked via 1 of 5 related genesNPHS2 Nephrotic syndrome, idiopathic, steroid-resistant Linked via 1 of 5 related genesNPHS2