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    SZRD1 SUZ RNA binding domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 26099, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SZRD1provided by HGNC
    Official Full Name
    SUZ RNA binding domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30232
    See related
    Ensembl:ENSG00000055070 MIM:620682; AllianceGenome:HGNC:30232
    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
    C1orf144
    Expression
    Ubiquitous expression in fat (RPKM 37.2), endometrium (RPKM 33.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SZRD1 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16367242..16398145)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15808777..15839678)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16693737..16724640)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene metallothionein 1X pseudogene 1 Neighboring gene F-box protein 42 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16678240-16679014 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16686958-16687174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16706517-16707018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16707019-16707518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16712076-16712576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16712577-16713077 Neighboring gene ribosomal protein L22 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16719513-16720419 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16727910-16728085 Neighboring gene spermatogenesis associated 21 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16764649-16764819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 265 Neighboring gene NECAP endocytosis associated 2 Neighboring gene long intergenic non-protein coding RNA 1772 Neighboring gene CROCC pseudogene 3

    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
    • 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. Hsa_circ_0008344 Promotes Glioma Tumor Progression and Angiogenesis Presumably by Regulating miR-638/SZRD1 Pathway.
      Title: Hsa_circ_0008344 Promotes Glioma Tumor Progression and Angiogenesis Presumably by Regulating miR-638/SZRD1 Pathway.
    2. Long non-coding RNA LINC00346 regulates proliferation and apoptosis by targeting miR-128-3p/SZRD1 axis in glioma.
      Title: Long non-coding RNA LINC00346 regulates proliferation and apoptosis by targeting miR-128-3p/SZRD1 axis in glioma.
    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

    • MGC70432, DKFZp566C0424

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SUZ RNA-binding domain-containing
    Names
    SUZ domain-containing protein 1
    UPF0485 protein C1orf144
    putative MAPK activating protein PM20,PM21
    putative MAPK-activating protein PM18/PM20/PM22

    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_001114600.3 → NP_001108072.1  SUZ RNA-binding domain-containing isoform 1

      See identical proteins and their annotated locations for NP_001108072.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB097046, AL358794, BC010631, DB501645
      Consensus CDS
      CCDS44065.1
      UniProtKB/Swiss-Prot
      A8MXJ2, C9K0U0, Q7Z422, Q7Z424, Q8IVM2, Q8TBV3, Q9Y403
      UniProtKB/TrEMBL
      B4DNI1, E7ENW9
      Related
      ENSP00000383866.4, ENST00000401088.9
      Conserved Domains (2) summary
      pfam12752
      Location:56 → 107
      SUZ; SUZ domain
      pfam12901
      Location:119 → 151
      SUZ-C; SUZ-C motif

    2. NM_001271869.2 → NP_001258798.1  SUZ RNA-binding domain-containing isoform 3

      See identical proteins and their annotated locations for NP_001258798.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL358794, BC010631, DA010145
      Consensus CDS
      CCDS60000.1
      UniProtKB/TrEMBL
      B4DNI1, E7ENW9
      Related
      ENSP00000419589.1, ENST00000471507.5
      Conserved Domains (2) summary
      pfam12752
      Location:55 → 106
      SUZ; SUZ domain
      pfam12901
      Location:118 → 150
      SUZ-C; SUZ-C motif

    RNA

    1. NR_073500.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AK308787, AL358794, BC010631, DB501645

    2. NR_073501.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL358794, BC010631, DA438597, DB501645

    3. NR_073502.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL358794, BC010631, BC023988
      Related
      ENST00000401089.3

    4. NR_073503.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB097044, AL358794, BC010631, DB501645
      Related
      ENST00000492354.1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      16367242..16398145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791756.1 Reference GRCh38.p14 PATCHES

      Range
      171377..202286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      15808777..15839678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z422.1 GenPept UniProtKB/Swiss-Prot:Q7Z422

    Gene LinkOut

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

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