bhlha9 basic helix-loop-helix family, member a9 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: bhlha9provided by ZNC
Official Full Name: basic helix-loop-helix family, member a9provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-2201
See related: Ensembl:ENSDARG00000103981 AllianceGenome:ZFIN:ZDB-GENE-030131-2201
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: bhlhf42; wu:fb99e06
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of or within pectoral fin development. Predicted to be located in nucleus. Is expressed in pectoral fin. Orthologous to human BHLHA9 (basic helix-loop-helix family member a9). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 10

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	10	NC_007121.7 (37927100..37928125)
105	previous assembly	GRCz10 (GCF_000002035.5)	10	NC_007121.6 (37983342..37984367)

Chromosome 10 - NC_007121.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knock-down of bhlha9 in zebrafish causes severe reduction defects of the pectoral fin, indicating a role for this gene in limb development.
Title: Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within pectoral fin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: class A basic helix-loop-helix protein 9

Names: Class B basic helix-loop-helix factor 42; Orphan1a

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.

mRNA and Protein(s)

NM_001202415.1 → NP_001189344.1 class A basic helix-loop-helix protein 9

Status: VALIDATED

Source sequence(s)

AL929310

UniProtKB/Swiss-Prot

A3KNX5

UniProtKB/TrEMBL

A0A0R4IDE2, A0A8M1NYY0

Related

ENSDARP00000133232.1, ENSDART00000172548.2

Conserved Domains (1) summary

pfam00010
Location:65 → 116

HLH; Helix-loop-helix DNA-binding domain