SPATA5L1 - spermatogenesis associated 5 like 1 Gene

Also Known as NEDHLS; DFNB119

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79029

About SPATA5L1

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,402,336-45,421,415 (from NCBI)

This gene has 7 transcripts (splice variants), 195 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 2.7), bone marrow (RPKM 1.8) and 25 other tissues.

Summary

Predicted to enable ATP binding activity. Located in cytoplasm and spindle. [provided by Alliance of Genome Resources, Apr 2022]

SPATA5L1 Products (2)

mRNA Protein Name
NM_001323640.2 NP_001310569.1 ribosome biogenesis protein SPATA5L1 isoform 2
NM_024063.3 NP_076968.2 ribosome biogenesis protein SPATA5L1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables preribosome binding IDA
IDA: Inferred from direct assay
35354024 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
35354024 GOA
Biological Process GO Annotation Evidence References Source
involved in ribosomal large subunit biogenesis IDA
IDA: Inferred from direct assay
35354024 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
18445686 GOA
located in spindle IDA
IDA: Inferred from direct assay
18445686 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPATA5L1 Protein Structure

AAA

AAA: ATPase family associated with various cellular activities (AAA) (237 - 367)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (501 - 651)

  • 0
  • 200
  • 400
  • 600
  • 753 a.a.
Protein Preferred Names Protein Names

ribosome biogenesis protein SPATA5L1

  • spermatogenesis-associated protein 5-like protein 1

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Hearing Loss And Spasticity

  • NEDHLS
Deafness, Autosomal Recessive 119

  • DFNB119

  • Deafness, Autosomal Recessive, 119
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Dystonia

  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia
Cerebral Palsy

  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed
Galloway-Mowat Syndrome 5

  • GAMOS5
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

  • Smard1

  • DSMA1

  • Sianrf

  • Dhmn6

  • Spinal Muscular Atrophy With Respiratory Distress 1

  • HMN6

  • Severe Infantile Axonal Neuropathy With Respiratory Failure

  • Autosomal Recessive Distal Spinal Muscular Atrophy 1

  • Diaphragmatic Spinal Muscular Atrophy

  • Spinal Muscular Atrophy With Respiratory Distress Type 1

  • Neuronopathy, Distal Hereditary Motor, Type Vi

  • Hmn Vi

  • Neuronopathy, Severe Infantile Axonal, With Respiratory Failure

  • Distal Spinal Muscular Atrophy 1

  • Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress

  • Distal Hereditary Motor Neuropathy Type 6

  • Distal-Hmn Type 6

  • Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1

  • Spinal Muscular Atrophy, Diaphragmatic

  • Distal Hereditary Motor Neuronopathy Type Vi

  • Distal Spinal Muscular Atrophy Type 1

  • Hmnvi

  • Spinal Muscular Atrophy With Respiratory Distress

  • Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

  • Neuronopathy, Distal Hereditary Motor, 6

  • Dhmn Vi

  • Distal Hereditary Motor Neuropathy Type Vi

  • Severe Infantile Axonal Neuronopathy With Respiratory Failure

  • Spinal Muscular Atrophy Distal Autosomal Recessive 1

  • Atrophy, Muscular, Spinal, Distal, Type 1
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

  • Familial Juvenile Hyperuricemic Nephropathy

  • Mckd2

  • Familial Juvenile Hyperuricemic Nephropathy Type 1

  • Fjhn

  • Medullary Cystic Kidney Disease 2

  • Uromodulin-Associated Kidney Disease

  • Medullary Cystic Kidney Disease Type 2

  • ADTKD1

  • Hnfj1

  • Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

  • Adtkd-Umod

  • Familial Juvenile Hyperuricemic Nephropathy 1

  • Umod-Related Adtkd

  • Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease

  • Hyperuricemic Nephropathy, Familial Juvenile, 1

  • Gouty Nephropathy, Familial Juvenile

  • Medullary Cystic Kidney Disease 2, Autosomal Dominant

  • Admckd2

  • Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations

  • Adtkd Due To Umod Mutations

  • Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

  • Autosomal Dominant Medullary Cystic Kidney Disease Type 2

  • Umod-Associated Kidney Disease

  • Uromodulin Kidney Disease

  • Familial Gout-Kidney Disease

  • Familial Gouty Nephropathy

  • Umak

  • Umod-Related Kidney Disease

  • Uromodulin Storage Disease

  • Fjhn1

  • Gouty Nephropathy Familial Juvenile

  • Nephropathy Familial With Gout

  • Hyperuricemic Nephropathy, Familial Juvenile 1

  • Hyperuricemic Nephropathy, Familial Juvenile

  • Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria

  • Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1

  • Kidney Disease, Cystic, Medullary, Type 2

  • Medullary Cystic Kidney Disease Type Ii

  • Familial Juvenile Gout
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Autosomal Recessive Distal Hereditary Motor Neuronopathy

  • Autosomal Recessive Distal Spinal Muscular Atrophy
Spasticity
Sensorineural Hearing Loss

  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13642 SPATA5L1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SPATA5L1 VGNC VGNC:35188
Felis catus SPATA5L1 VGNC VGNC:65616
Mus musculus SPATA5L1 MGD MGI:3036261
Canis familiaris SPATA5L1 VGNC VGNC:46716
Rattus norvegicus SPATA5L1 RGD RGD:1595990
Others SPATA5L1 NCBI