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    ZFP1 ZFP1 zinc finger protein [ Homo sapiens (human) ]

    Gene ID: 162239, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZFP1provided by HGNC
    Official Full Name
    ZFP1 zinc finger proteinprovided by HGNC
    Primary source
    HGNC:HGNC:23328
    See related
    Ensembl:ENSG00000184517 MIM:617230; AllianceGenome:HGNC:23328
    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
    ZNF475
    Summary
    This gene belongs to the zinc finger protein family. Some members of this family bind to DNA by zinc-mediated secondary structures called zinc fingers, and are involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in brain (RPKM 6.0), thyroid (RPKM 4.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZFP1 in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75119002..75172234)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81165700..81218965)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75182422..75206132)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11115 Neighboring gene zinc and ring finger 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11116 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75095860-75097059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75108734-75109234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75109235-75109735 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:75113000-75113201 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75113937-75114482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75121619-75122275 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:75127186-75127378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75129219-75129949 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75129950-75130679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75136275-75136776 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11122 Neighboring gene Sharpr-MPRA regulatory region 12749 Neighboring gene lactate dehydrogenase D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75231710-75232210 Neighboring gene Sharpr-MPRA regulatory region 2157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7710 Neighboring gene RPS4Y1 pseudogene 1 Neighboring gene chymotrypsinogen B2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZFP1 is a biomarker related to poor prognosis and immunity in gastric cancer.
      Title: ZFP1 is a biomarker related to poor prognosis and immunity in gastric cancer.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34243

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 1 homolog
    Names
    zinc finger protein 475

    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)

    1. NM_001318469.2 → NP_001305398.1  zinc finger protein 1 homolog isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK091562, BC033774, BC064604, BP219674, DC388176
      Consensus CDS
      CCDS10914.2
      UniProtKB/Swiss-Prot
      A8K5Q7, B4DKG9, Q6P2D0, Q8N188, Q8N9F9
      Related
      ENSP00000377080.2, ENST00000393430.6
      Conserved Domains (3) summary
      COG5048
      Location:146 → 403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:326 → 346
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 47
      KRAB; KRAB box

    2. NM_001318471.2 → NP_001305400.1  zinc finger protein 1 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (2), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK091562, BC033774, BC064604, BP219674, DC402593
      Consensus CDS
      CCDS82013.1
      UniProtKB/TrEMBL
      J3KNQ1
      Conserved Domains (2) summary
      COG5048
      Location:113 → 370
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:293 → 313
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001318472.2 → NP_001305401.1  zinc finger protein 1 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (2), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK091562, AK308134, BC033774, BC064604, BP219674, DC388176
      Consensus CDS
      CCDS82013.1
      UniProtKB/TrEMBL
      J3KNQ1
      Related
      ENSP00000333192.4, ENST00000332307.4
      Conserved Domains (2) summary
      COG5048
      Location:113 → 370
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:293 → 313
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_001318473.2 → NP_001305402.1  zinc finger protein 1 homolog isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 5 and 6 encode the same isoform (3), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK091562, BC033774, BC064604, BP219674, DA781502, DC388176
      UniProtKB/Swiss-Prot
      Q6P2D0
      Conserved Domains (4) summary
      COG5048
      Location:91 → 348
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:271 → 291
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:269 → 291
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:171 → 196
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001318474.2 → NP_001305403.1  zinc finger protein 1 homolog isoform 3

      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 a downstream start codon, compared to variant 1. Variants 5 and 6 encode the same isoform (3), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK091562, BC033774, BC064604, BP219674, DC371394
      UniProtKB/Swiss-Prot
      Q6P2D0
      Conserved Domains (4) summary
      COG5048
      Location:91 → 348
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:271 → 291
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:269 → 291
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:171 → 196
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001318475.2 → NP_001305404.1  zinc finger protein 1 homolog isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and uses an alternate splice site in the coding region, resulting in a frameshift and an early stop codon, compared to variant 1. Variants 7 and 8 encode the same isoform (4), which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK091562, AK094761, BC033774, BC064604, BP219674, BX647144, DB075594
      Consensus CDS
      CCDS82012.1
      UniProtKB/TrEMBL
      H3BV40
      Related
      ENSP00000455627.1, ENST00000567481.1
      Conserved Domains (1) summary
      smart00349
      Location:8 → 48
      KRAB; krueppel associated box

    7. NM_001318476.2 → NP_001305405.1  zinc finger protein 1 homolog isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate splice site in the coding region, resulting in a frameshift and an early stop codon, compared to variant 1. Variants 7 and 8 encode the same isoform (4), which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK091562, AK094761, BC033774, BC064604, BP219674, BX647144, DC388176
      Consensus CDS
      CCDS82012.1
      UniProtKB/TrEMBL
      H3BV40
      Related
      ENSP00000457941.1, ENST00000464850.5
      Conserved Domains (1) summary
      smart00349
      Location:8 → 48
      KRAB; krueppel associated box

    8. NM_153688.4 → NP_710155.2  zinc finger protein 1 homolog isoform 1

      See identical proteins and their annotated locations for NP_710155.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK091562, AK296560, BC033774, BC064604, BP219674, DC388176
      Consensus CDS
      CCDS10914.2
      UniProtKB/Swiss-Prot
      A8K5Q7, B4DKG9, Q6P2D0, Q8N188, Q8N9F9
      Related
      ENSP00000457044.1, ENST00000570010.6
      Conserved Domains (3) summary
      COG5048
      Location:146 → 403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:326 → 346
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 47
      KRAB; KRAB box

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      75119002..75172234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522921.3 → XP_011521223.1  zinc finger protein 1 homolog isoform X2

      Conserved Domains (6) summary
      smart00349
      Location:34 → 74
      KRAB; krueppel associated box
      COG5048
      Location:172 → 429
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:352 → 372
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:350 → 372
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:34 → 73
      KRAB; KRAB box
      pfam13465
      Location:252 → 277
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047433668.1 → XP_047289624.1  zinc finger protein 1 homolog isoform X1

    3. XM_024450168.2 → XP_024305936.1  zinc finger protein 1 homolog isoform X4

      UniProtKB/TrEMBL
      H3BV40
      Conserved Domains (1) summary
      smart00349
      Location:8 → 48
      KRAB; krueppel associated box

    4. XM_047433669.1 → XP_047289625.1  zinc finger protein 1 homolog isoform X3

      UniProtKB/Swiss-Prot
      A8K5Q7, B4DKG9, Q6P2D0, Q8N188, Q8N9F9

    5. XM_047433670.1 → XP_047289626.1  zinc finger protein 1 homolog isoform X3

      UniProtKB/TrEMBL
      J3KNQ1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654723.1 Reference GRCh38.p14 PATCHES

      Range
      1..2424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      81165700..81218965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379708.1 → XP_054235683.1  zinc finger protein 1 homolog isoform X2

    2. XM_054379710.1 → XP_054235685.1  zinc finger protein 1 homolog isoform X3

      UniProtKB/Swiss-Prot
      A8K5Q7, B4DKG9, Q6P2D0, Q8N188, Q8N9F9

    3. XM_054379711.1 → XP_054235686.1  zinc finger protein 1 homolog isoform X3

    4. XM_054379709.1 → XP_054235684.1  zinc finger protein 1 homolog isoform X3

      UniProtKB/Swiss-Prot
      A8K5Q7, B4DKG9, Q6P2D0, Q8N188, Q8N9F9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P2D0.2 GenPept UniProtKB/Swiss-Prot:Q6P2D0

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