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    FEZF1 FEZ family zinc finger 1 [ Homo sapiens (human) ]

    Gene ID: 389549, updated on 10-Dec-2024

    Summary

    Official Symbol
    FEZF1provided by HGNC
    Official Full Name
    FEZ family zinc finger 1provided by HGNC
    Primary source
    HGNC:HGNC:22788
    See related
    Ensembl:ENSG00000128610 MIM:613301; AllianceGenome:HGNC:22788
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FEZ; HH22; ZNF312B
    Summary
    This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
    Expression
    Restricted expression toward testis (RPKM 1.2) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FEZF1 in Genome Data Viewer
    Location:
    7q31.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (122301303..122310723, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (123617261..123627513, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (121941357..121944804, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724527 Neighboring gene tetratricopeptide repeat domain 14 pseudogene Neighboring gene ribosomal protein L31 pseudogene 37 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:121924115-121924720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:121951480-121951992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:121951993-121952505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:121956930-121957784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:121955253-121955783 Neighboring gene VISTA enhancer hs1809 Neighboring gene FEZF1 antisense RNA 1 Neighboring gene calcium dependent secretion activator 2 Neighboring gene NANOG hESC enhancer GRCh37_chr7:122088873-122089630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:122167222-122167722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:122167723-122168223 Neighboring gene uncharacterized LOC105375481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26564 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:122319235-122319791 Neighboring gene ribosomal protein S26 pseudogene 31

    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?

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol  
    located_in nucleoplasm  

    General protein information

    Preferred Names
    fez family zinc finger protein 1
    Names
    zinc finger protein 312B

    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.

    Genomic

    1. NG_041775.2 RefSeqGene

      Range
      10973..14420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001024613.4 → NP_001019784.2  fez family zinc finger protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001019784.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC015983, AK300742, AY726588, HY206093
      Consensus CDS
      CCDS34741.2
      UniProtKB/Swiss-Prot
      A0PJY2, A0PJY3, A4D0W3, B4DUP9, B7ZM98
      Related
      ENSP00000411145.2, ENST00000442488.7
      Conserved Domains (3) summary
      COG5048
      Location:287 → 421
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:262 → 282
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:402 → 420
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_001160264.2 → NP_001153736.1  fez family zinc finger protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001153736.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AY726588, BC127715, DC386457, HY206093
      Consensus CDS
      CCDS55157.1
      UniProtKB/Swiss-Prot
      A0PJY2
      Related
      ENSP00000392727.2, ENST00000427185.2
      Conserved Domains (4) summary
      COG5048
      Location:237 → 371
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:212 → 232
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:352 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:255 → 277
      zf-H2C2_2; Zinc-finger double domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      122301303..122310723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516202.3 → XP_011514504.1  fez family zinc finger protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011514504.1

      UniProtKB/Swiss-Prot
      A0PJY2
      Conserved Domains (4) summary
      COG5048
      Location:237 → 371
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:212 → 232
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:352 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:255 → 277
      zf-H2C2_2; Zinc-finger double domain
    2. XM_005250337.4 → XP_005250394.1  fez family zinc finger protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005250394.1

      UniProtKB/Swiss-Prot
      A0PJY2, A0PJY3, A4D0W3, B4DUP9, B7ZM98
      Conserved Domains (3) summary
      COG5048
      Location:287 → 421
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:262 → 282
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:402 → 420
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      123617261..123627513 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358188.1 → XP_054214163.1  fez family zinc finger protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0PJY2, A0PJY3, A4D0W3, B4DUP9, B7ZM98
    2. XM_054358189.1 → XP_054214164.1  fez family zinc finger protein 1 isoform X2

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