mitfb melanocyte inducing transcription factor b [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mitfbprovided by ZNC
Official Full Name: melanocyte inducing transcription factor bprovided by ZNC
Primary source: ZFIN:ZDB-GENE-010919-1
See related: Ensembl:ENSDARG00000037833 AllianceGenome:ZFIN:ZDB-GENE-010919-1
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Acts upstream of or within DNA-templated transcription and melanocyte differentiation. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in optic cup; optic vesicle; and sensory system. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome; Waardenburg syndrome type 2A; and familial melanoma. Orthologous to human MITF (melanocyte inducing transcription factor). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 23

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	23	NC_007134.7 (701415..764135, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	23	NC_007134.6 (698282..751342, complement)

Chromosome 23 - NC_007134.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

pH-controlled histone acetylation amplifies melanocyte differentiation downstream of MITF.
Title: pH-controlled histone acetylation amplifies melanocyte differentiation downstream of MITF.
These findings suggest that one or more Otx targets in addition to mitfa and mitfb, possibly another mitf family member, are necessary for development of the retinal pigmented epithelium in zebrafish.
Title: Otx but not Mitf transcription factors are required for zebrafish retinal pigment epithelium development.

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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 DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info
enables RNA polymerase II cis-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
enables protein dimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA-templated transcription	IDA Inferred from Direct Assay more info
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within melanocyte differentiation	IGI Inferred from Genetic Interaction more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IC Inferred by Curator more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: melanocyte inducing transcription factor b

Names: Mitf1; microphthalmia-associated transcription factor b

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_131847.2 → NP_571922.2 melanocyte inducing transcription factor b

See identical proteins and their annotated locations for NP_571922.2

Status: PROVISIONAL

Source sequence(s)

JN105118

UniProtKB/TrEMBL

A0A8N7XJ69, F1Q885, G5CIM9

Related

ENSDARP00000021876.8, ENSDART00000010248.10

Conserved Domains (4) summary

cd00083
Location:293 → 353

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

pfam11851
Location:381 → 496

DUF3371; Domain of unknown function (DUF3371)

pfam12958
Location:347 → 380

DUF3847; Protein of unknown function (DUF3847)

pfam15951
Location:53 → 185

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007134.7 Reference GRCz11 Primary Assembly

Range

701415..764135 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_068216659.1 → XP_068072760.1 melanocyte inducing transcription factor b isoform X1
XM_021469718.2 → XP_021325393.1 melanocyte inducing transcription factor b isoform X2

UniProtKB/TrEMBL

A0A8M9PEV1

Conserved Domains (4) summary

cd00083
Location:139 → 199

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

pfam11851
Location:281 → 342

DUF3371; Domain of unknown function (DUF3371)

pfam12958
Location:193 → 226

DUF3847; Protein of unknown function (DUF3847)

pfam15951
Location:3 → 31

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus