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    MZF1 myeloid zinc finger 1 [ Homo sapiens (human) ]

    Gene ID: 7593, updated on 9-Dec-2024

    Summary

    Official Symbol
    MZF1provided by HGNC
    Official Full Name
    myeloid zinc finger 1provided by HGNC
    Primary source
    HGNC:HGNC:13108
    See related
    Ensembl:ENSG00000099326 MIM:194550; AllianceGenome:HGNC:13108
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MZF-1; MZF1B; ZFP98; ZNF42; ZSCAN6
    Summary
    Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 4.6), prostate (RPKM 4.2) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MZF1 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (58561932..58573573, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61659609..61672553, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (59073299..59084940, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene charged multivesicular body protein 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:59067095-59067778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15211 Neighboring gene ubiquitin conjugating enzyme E2 M Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:59070738-59071334 Neighboring gene MZF1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11096 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:59083407-59084268 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:59084269-59085128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15214 Neighboring gene CENPB DNA-binding domains containing 2, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:59093108-59093611 Neighboring gene uncharacterized LOC107987272

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    myeloid zinc finger 1
    Names
    zinc finger and SCAN domain-containing protein 6
    zinc finger protein 42 (myeloid-specific retinoic acid-responsive)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001267033.2NP_001253962.1  myeloid zinc finger 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF055078, BC007777, BC053316
      Consensus CDS
      CCDS59427.1
      UniProtKB/TrEMBL
      M0R1U5
      Related
      ENSP00000469378.1, ENST00000594234.5
      Conserved Domains (2) summary
      smart00431
      Location:40152
      SCAN; leucine rich region
      pfam02023
      Location:40128
      SCAN; SCAN domain
    2. NM_003422.3NP_003413.2  myeloid zinc finger 1 isoform 1

      See identical proteins and their annotated locations for NP_003413.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AF055077, BC007777
      Consensus CDS
      CCDS12988.1
      UniProtKB/Swiss-Prot
      M0QXU0, P28698, Q7Z729, Q96I71, Q9NRY0, Q9UBW2
      Related
      ENSP00000469493.1, ENST00000599369.5
      Conserved Domains (4) summary
      smart00431
      Location:40152
      SCAN; leucine rich region
      COG5048
      Location:358716
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:543563
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:442462
      ZF_C2H2; C2H2 Zn finger [structural motif]
    3. NM_198055.2NP_932172.1  myeloid zinc finger 1 isoform 1

      See identical proteins and their annotated locations for NP_932172.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AF055078, BC007777
      Consensus CDS
      CCDS12988.1
      UniProtKB/Swiss-Prot
      M0QXU0, P28698, Q7Z729, Q96I71, Q9NRY0, Q9UBW2
      Related
      ENSP00000215057.1, ENST00000215057.7
      Conserved Domains (4) summary
      smart00431
      Location:40152
      SCAN; leucine rich region
      COG5048
      Location:358716
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:543563
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:442462
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      58561932..58573573 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439312.1XP_047295268.1  myeloid zinc finger 1 isoform X1

    2. XM_011527264.4XP_011525566.1  myeloid zinc finger 1 isoform X2

      Conserved Domains (7) summary
      smart00431
      Location:70182
      SCAN; leucine rich region
      COG5048
      Location:388746
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:573593
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:472492
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:388408
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:70158
      SCAN; SCAN domain
      pfam13465
      Location:697722
      zf-H2C2_2; Zinc-finger double domain
    3. XM_047439313.1XP_047295269.1  myeloid zinc finger 1 isoform X1

    4. XM_005259204.4XP_005259261.1  myeloid zinc finger 1 isoform X1

      See identical proteins and their annotated locations for XP_005259261.1

      Conserved Domains (4) summary
      smart00431
      Location:81193
      SCAN; leucine rich region
      COG5048
      Location:399757
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:584604
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:483503
      ZF_C2H2; C2H2 Zn finger [structural motif]
    5. XM_017027206.2XP_016882695.1  myeloid zinc finger 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      61659609..61672553 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321951.1XP_054177926.1  myeloid zinc finger 1 isoform X2

    2. XM_054321948.1XP_054177923.1  myeloid zinc finger 1 isoform X1

    3. XM_054321950.1XP_054177925.1  myeloid zinc finger 1 isoform X1

    4. XM_054321949.1XP_054177924.1  myeloid zinc finger 1 isoform X1

    5. XM_054321952.1XP_054177927.1  myeloid zinc finger 1 isoform X3