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    ZMAT1 zinc finger matrin-type 1 [ Homo sapiens (human) ]

    Gene ID: 84460, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZMAT1provided by HGNC
    Official Full Name
    zinc finger matrin-type 1provided by HGNC
    Primary source
    HGNC:HGNC:29377
    See related
    Ensembl:ENSG00000166432 MIM:301007; AllianceGenome:HGNC:29377
    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
    Summary
    This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.8), ovary (RPKM 6.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZMAT1 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101882290..101932027, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (100326914..100376656, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (101137262..101187000, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glycerol kinase 4 pseudogene Neighboring gene nuclear RNA export factor 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:101160927-101161428 Neighboring gene RNA, U6 small nuclear 345, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:101186779-101187279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:101254554-101255054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:101255055-101255555 Neighboring gene H2B histone pseudogene 8 Neighboring gene C3orf49 pseudogene 1

    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. ZMAT1 acts as a tumor suppressor in pancreatic ductal adenocarcinoma by inducing SIRT3/p53 signaling pathway.
      Title: ZMAT1 acts as a tumor suppressor in pancreatic ductal adenocarcinoma by inducing SIRT3/p53 signaling pathway.
    2. Suggest that ZMAT1 transcript variant 2 is a potential diagnostic factor in patients with gastric cancer.
      Title: Downregulation of long noncoding RNA ZMAT1 transcript variant 2 predicts a poor prognosis in patients with gastric cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    • KIAA1789, MGC176597, MGC176728

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger matrin-type protein 1

    NCBI Reference Sequences (RefSeq)

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    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_016330.2 RefSeqGene

      Range
      4738..54475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001011657.4 → NP_001011657.2  zinc finger matrin-type protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA459272, AK296520, BC045706, BC152470, DA824319, Z68868, Z69304
      Consensus CDS
      CCDS35348.1
      UniProtKB/Swiss-Prot
      A0A494C0A7, Q5H9K5, Q8NDS3, Q96JN6
      Related
      ENSP00000361868.3, ENST00000372782.4
      Conserved Domains (2) summary
      smart00451
      Location:118 → 152
      ZnF_U1; U1-like zinc finger
      pfam08576
      Location:532 → 584
      DUF1764; Eukaryotic protein of unknown function (DUF1764)

    2. NM_001282400.2 → NP_001269329.1  zinc finger matrin-type protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001269329.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform 1. Both variants 2 and 4 encode the same isoform (4).
      Source sequence(s)
      AA459272, AK094141, AL831883, Z68868
      UniProtKB/TrEMBL
      A7MD47

    3. NM_001282401.2 → NP_001269330.1  zinc finger matrin-type protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001269330.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform 1. Both variants 2 and 4 encode the same isoform (4).
      Source sequence(s)
      AA459272, AK296520, AL831883
      UniProtKB/TrEMBL
      A7MD47
      Related
      ENST00000458570.5
      Conserved Domains (1) summary
      pfam08576
      Location:361 → 413
      DUF1764; Eukaryotic protein of unknown function (DUF1764)

    4. NM_001394560.1 → NP_001381489.1  zinc finger matrin-type protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      KF459260, Z68326, Z68868, Z69304
      Consensus CDS
      CCDS94643.1
      Related
      ENSP00000498446.1, ENST00000651725.2
      Conserved Domains (1) summary
      smart00451
      Location:175 → 209
      ZnF_U1; U1-like zinc finger

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      101882290..101932027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262213.5 → XP_005262270.2  zinc finger matrin-type protein 1 isoform X2

      Conserved Domains (2) summary
      smart00451
      Location:175 → 209
      ZnF_U1; U1-like zinc finger
      pfam08576
      Location:611 → 663
      DUF1764; Eukaryotic protein of unknown function (DUF1764)

    2. XM_005262212.5 → XP_005262269.2  zinc finger matrin-type protein 1 isoform X1

      Conserved Domains (2) summary
      smart00451
      Location:175 → 209
      ZnF_U1; U1-like zinc finger
      pfam08576
      Location:612 → 664
      DUF1764; Eukaryotic protein of unknown function (DUF1764)

    3. XM_017029903.2 → XP_016885392.1  zinc finger matrin-type protein 1 isoform X3

    4. XM_005262216.5 → XP_005262273.2  zinc finger matrin-type protein 1 isoform X4

      Conserved Domains (2) summary
      smart00451
      Location:55 → 89
      ZnF_U1; U1-like zinc finger
      pfam08576
      Location:492 → 544
      DUF1764; Eukaryotic protein of unknown function (DUF1764)

    5. XM_047442574.1 → XP_047298530.1  zinc finger matrin-type protein 1 isoform X5

      UniProtKB/TrEMBL
      A7MD47

    6. XM_006724711.4 → XP_006724774.1  zinc finger matrin-type protein 1 isoform X5

      See identical proteins and their annotated locations for XP_006724774.1

      UniProtKB/TrEMBL
      A7MD47
      Conserved Domains (1) summary
      pfam08576
      Location:361 → 413
      DUF1764; Eukaryotic protein of unknown function (DUF1764)

    7. XM_047442576.1 → XP_047298532.1  zinc finger matrin-type protein 1 isoform X5

      UniProtKB/TrEMBL
      A7MD47

    8. XM_047442575.1 → XP_047298531.1  zinc finger matrin-type protein 1 isoform X5

      UniProtKB/TrEMBL
      A7MD47

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      100326914..100376656 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327978.1 → XP_054183953.1  zinc finger matrin-type protein 1 isoform X8

    2. XM_054327977.1 → XP_054183952.1  zinc finger matrin-type protein 1 isoform X7

    3. XM_054327976.1 → XP_054183951.1  zinc finger matrin-type protein 1 isoform X6

    4. XM_054327980.1 → XP_054183955.1  zinc finger matrin-type protein 1 isoform X2

    5. XM_054327979.1 → XP_054183954.1  zinc finger matrin-type protein 1 isoform X1

    6. XM_054327981.1 → XP_054183956.1  zinc finger matrin-type protein 1 isoform X5

      UniProtKB/TrEMBL
      A7MD47

    7. XM_054327984.1 → XP_054183959.1  zinc finger matrin-type protein 1 isoform X5

      UniProtKB/TrEMBL
      A7MD47

    8. XM_054327983.1 → XP_054183958.1  zinc finger matrin-type protein 1 isoform X5

      UniProtKB/TrEMBL
      A7MD47

    9. XM_054327982.1 → XP_054183957.1  zinc finger matrin-type protein 1 isoform X5

      UniProtKB/TrEMBL
      A7MD47

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_036431.1: Suppressed sequence

      Description
      NR_036431.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which appears to retain intronic sequence at its 5' end.

    2. NR_046008.1: Suppressed sequence

      Description
      NR_046008.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5H9K5.2 GenPept UniProtKB/Swiss-Prot:Q5H9K5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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