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    ZEB1 zinc finger E-box binding homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 6935, updated on 19-Nov-2017
    Official Symbol
    ZEB1provided by HGNC
    Official Full Name
    zinc finger E-box binding homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:11642
    See related
    Ensembl:ENSG00000148516 MIM:189909; Vega:OTTHUMG00000017907
    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
    BZP; TCF8; AREB6; FECD6; NIL2A; PPCD3; ZFHEP; ZFHX1A; DELTAEF1
    Summary
    This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]
    Orthologs
    Location:
    10p11.22
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (31318495..31529814)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (31607825..31818742)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376481 Neighboring gene uncharacterized LOC105376483 Neighboring gene uncharacterized LOC101929352 Neighboring gene RNA, 5S ribosomal pseudogene 309 Neighboring gene ZEB1 antisense RNA 1 Neighboring gene ZEB1 antisense RNA 1 Neighboring gene putative UPF0607 protein FLJ37424 Neighboring gene serine palmitoyltransferase long chain base subunit 1 pseudogene 1 Neighboring gene uncharacterized LOC105376484 Neighboring gene glutamate dehydrogenase 1 pseudogene 5 Neighboring gene uncharacterized LOC101929951

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Corneal dystrophy, Fuchs endothelial, 6
    MedGen: C2750448 OMIM: 613270 GeneReviews: Not available
    Compare labs
    Posterior polymorphous corneal dystrophy 3
    MedGen: C1836724 OMIM: 609141 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef upregulates the expression of transcription factor 8 in HeLa cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC133261

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    E-box binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription corepressor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    cochlea morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endothelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pattern specification process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    semicircular canal morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    zinc finger E-box-binding homeobox 1
    Names
    delta-crystallin enhancer binding factor 1
    negative regulator of IL2
    posterior polymorphous corneal dystrophy 3
    transcription factor 8 (represses interleukin 2 expression)
    zinc finger homeodomain enhancer-binding protein

    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_017048.1 RefSeqGene

      Range
      5001..215642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128128.2NP_001121600.1  zinc finger E-box-binding homeobox 1 isoform a

      See identical proteins and their annotated locations for NP_001121600.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AI086650, AK311187, AK311557, AK314683, AL831979, BQ003893, BX111519, U12170
      Consensus CDS
      CCDS44370.1
      UniProtKB/Swiss-Prot
      P37275
      UniProtKB/TrEMBL
      B2RBI8
      Related
      ENSP00000391612.2, ENST00000446923.6
      Conserved Domains (5) summary
      smart00389
      Location:577613
      HOX; Homeodomain
      COG5048
      Location:913966
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:890910
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:224246
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:930955
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001174093.1NP_001167564.1  zinc finger E-box-binding homeobox 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AI086650, AL831979, BC112392, BQ003893, BX111519, DB442432, DC299346
      Consensus CDS
      CCDS53506.1
      UniProtKB/Swiss-Prot
      P37275
      Related
      ENSP00000452787.1, OTTHUMP00000248673, ENST00000560721.6, OTTHUMT00000419086
      Conserved Domains (5) summary
      smart00389
      Location:573609
      HOX; Homeodomain
      COG5048
      Location:909962
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:886906
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:220242
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:926951
      zf-H2C2_2; Zinc-finger double domain
    3. NM_001174094.1NP_001167565.1  zinc finger E-box-binding homeobox 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform d), compared to isoform a.
      Source sequence(s)
      AI086650, AK311116, AK311187, AK311557, AK314683, AL831979, BQ003893, BX111519, U12170
      UniProtKB/Swiss-Prot
      P37275
      UniProtKB/TrEMBL
      B2RBI8
      Conserved Domains (5) summary
      smart00389
      Location:576612
      HOX; Homeodomain
      COG5048
      Location:912965
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:889909
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:223245
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:929954
      zf-H2C2_2; Zinc-finger double domain
    4. NM_001174095.1NP_001167566.1  zinc finger E-box-binding homeobox 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also lacks an in-frame exon and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (e) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AI086650, AK300830, AK314683, AL831979, BQ003893, BX111519, DB442432, DC299346, U12170
      Consensus CDS
      CCDS53507.1
      UniProtKB/Swiss-Prot
      P37275
      UniProtKB/TrEMBL
      B2RBI8
      Related
      ENSP00000444891.2, OTTHUMP00000248675, ENST00000542815.7, OTTHUMT00000419088
      Conserved Domains (5) summary
      smart00389
      Location:526562
      HOX; Homeodomain
      COG5048
      Location:862915
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:839859
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:173195
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:879904
      zf-H2C2_2; Zinc-finger double domain
    5. NM_001174096.1NP_001167567.1  zinc finger E-box-binding homeobox 1 isoform f

      See identical proteins and their annotated locations for NP_001167567.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (f) is longer and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AI086650, AL831979, BC112392, BQ003893, BX111519, DB442432, DC299346
      Consensus CDS
      CCDS53505.1
      UniProtKB/Swiss-Prot
      P37275
      Related
      ENSP00000354487.5, ENST00000361642.9
      Conserved Domains (5) summary
      smart00389
      Location:594630
      HOX; Homeodomain
      COG5048
      Location:930983
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:907927
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:241263
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:947972
      zf-H2C2_2; Zinc-finger double domain
    6. NM_001323638.1NP_001310567.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 4, 5, and 10-36, encodes isoform g.
      Source sequence(s)
      AL161935, AL355148, BX647794
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    7. NM_001323641.1NP_001310570.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 3, 5, and 10-36, encodes isoform g.
      Source sequence(s)
      AK294775, AL117340, AL161935
      UniProtKB/TrEMBL
      B4DGU2
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    8. NM_001323642.1NP_001310571.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 3, 4, and 10-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    9. NM_001323643.1NP_001310572.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 3-5 and 11-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    10. NM_001323644.1NP_001310573.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 3-5, 10, and 12-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    11. NM_001323645.1NP_001310574.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 3-5, 10-11, and 13-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    12. NM_001323646.1NP_001310575.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 3-5, 10-12, and 14-36, encodes isoform g.
      Source sequence(s)
      AK311372, AL117340, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    13. NM_001323647.1NP_001310576.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 3-5, 10-13, and 15-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    14. NM_001323648.1NP_001310577.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 3-5, 10-14, and 16-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    15. NM_001323649.1NP_001310578.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 3-5, 10-15, and 17-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    16. NM_001323650.1NP_001310579.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 3-5, 10-16, and 18-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    17. NM_001323651.1NP_001310580.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 3-5, 10-17, and 19-36, encodes isoform g.
      Source sequence(s)
      AK307510, AL117340, AL158080, AL161935
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    18. NM_001323652.1NP_001310581.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 3-5, 10-18, and 20-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL161935, AL355148, DB276952
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    19. NM_001323653.1NP_001310582.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 3-5, 10-19, and 21-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL161935, AL355148, AL831979
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    20. NM_001323654.1NP_001310583.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 3-5, 10-20, and 22-36, encodes isoform g.
      Source sequence(s)
      AK308822, AL117340, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    21. NM_001323655.1NP_001310584.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 3-5, 10-21, and 23-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL161935, AL355148, BX954549
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    22. NM_001323656.1NP_001310585.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23), as well as variants 3-5, 10-22, and 24-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    23. NM_001323657.1NP_001310586.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24), as well as variants 3-5, 10-23, and 25-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    24. NM_001323658.1NP_001310587.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25), as well as variants 3-5, 10-24, and 26-36, encodes isoform g.
      Source sequence(s)
      AL161935, AL355148, DC403144
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    25. NM_001323659.1NP_001310588.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (26), as well as variants 3-5, 10-25, and 27-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    26. NM_001323660.1NP_001310589.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (27), as well as variants 3-5, 10-26, and 28-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    27. NM_001323661.1NP_001310590.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (28), as well as variants 3-5, 10-27, and 29-36, encodes isoform g.
      Source sequence(s)
      AK309399, AL158080, AL161935, AL355148, DC375708
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    28. NM_001323662.1NP_001310591.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (29), as well as variants 3-5, 10-28, and 30-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    29. NM_001323663.1NP_001310592.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (30), as well as variants 3-5, 10-29, and 31-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    30. NM_001323664.1NP_001310593.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (31), as well as variants 3-5, 10-30, and 32-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    31. NM_001323665.1NP_001310594.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (32), as well as variants 3-5, 10-31, and 33-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    32. NM_001323666.1NP_001310595.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (33), as well as variants 3-5, 10-32, and 34-36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    33. NM_001323671.1NP_001310600.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (34), as well as variants 3-5, 10-33, 35, and 36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    34. NM_001323672.1NP_001310601.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (35), as well as variants 3-5, 10-34, and 36, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    35. NM_001323673.1NP_001310602.1  zinc finger E-box-binding homeobox 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (36), as well as variants 3-5 and 10-35, encodes isoform g.
      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    36. NM_001323674.1NP_001310603.1  zinc finger E-box-binding homeobox 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
    37. NM_001323675.1NP_001310604.1  zinc finger E-box-binding homeobox 1 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
    38. NM_001323676.1NP_001310605.1  zinc finger E-box-binding homeobox 1 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
    39. NM_001323677.1NP_001310606.1  zinc finger E-box-binding homeobox 1 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
    40. NM_001323678.1NP_001310607.1  zinc finger E-box-binding homeobox 1 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL117340, AL158080, AL161935, AL355148
    41. NM_030751.5NP_110378.3  zinc finger E-box-binding homeobox 1 isoform b

      See identical proteins and their annotated locations for NP_110378.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as Zfhx1a-1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also uses an alternate in-frame splice site in the 5' coding region, compared to variant 1.The encoded isoform (b) is longer and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AI086650, AK314683, AL831979, BQ003893, BX111519, DB442432, DC299346, U12170
      Consensus CDS
      CCDS7169.1
      UniProtKB/Swiss-Prot
      P37275
      UniProtKB/TrEMBL
      B2RBI8
      Related
      ENSP00000319248.9, OTTHUMP00000248671, ENST00000320985.14, OTTHUMT00000419083
      Conserved Domains (5) summary
      smart00389
      Location:593629
      HOX; Homeodomain
      COG5048
      Location:929982
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:906926
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:240262
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:946971
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      31318495..31529814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717498.2XP_006717561.1  zinc finger E-box-binding homeobox 1 isoform X1

      See identical proteins and their annotated locations for XP_006717561.1

      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    2. XM_017016597.1XP_016872086.1  zinc finger E-box-binding homeobox 1 isoform X1

      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    3. XM_011519643.2XP_011517945.1  zinc finger E-box-binding homeobox 1 isoform X1

      See identical proteins and their annotated locations for XP_011517945.1

      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    4. XM_017016600.1XP_016872089.1  zinc finger E-box-binding homeobox 1 isoform X1

      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    5. XM_017016602.1XP_016872091.1  zinc finger E-box-binding homeobox 1 isoform X1

      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    6. XM_017016598.1XP_016872087.1  zinc finger E-box-binding homeobox 1 isoform X1

      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    7. XM_017016601.1XP_016872090.1  zinc finger E-box-binding homeobox 1 isoform X1

      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    8. XM_017016603.1XP_016872092.1  zinc finger E-box-binding homeobox 1 isoform X1

      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain
    9. XM_017016599.1XP_016872088.1  zinc finger E-box-binding homeobox 1 isoform X1

      Conserved Domains (4) summary
      smart00389
      Location:375411
      HOX; Homeodomain
      sd00017
      Location:688708
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:728753
      zf-H2C2_2; Zinc-finger double domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      31607376..31818701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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