SOHLH1

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

Description

Spermatogenesis and oogenesis specific basic helix-loop-helix 1

Tissue specificity

Group enriched (brain, choroid plexus, testis)

Subcell location

Nuclear speckles

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Transcription factors

Chromosome

9 (135693407 - 135704498)

Ensembl ID

ENSG00000165643  (ver. 103.38)

Orthologs

Mouse Sohlh1: ENSMUSG00000059625

UniProt

Q5JUK2

neXtProt

NX_Q5JUK2

Human splice variants
Mouse splice variants

Protein structure