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    SAYSD1 SAYSVFN motif domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55776, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SAYSD1provided by HGNC
    Official Full Name
    SAYSVFN motif domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:21025
    See related
    Ensembl:ENSG00000112167 AllianceGenome:HGNC:21025
    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
    C6orf64
    Summary
    Enables UFM1-modified protein reader activity. Involved in protein quality control for misfolded or incompletely synthesized proteins and rescue of stalled ribosome. Located in intracellular membrane-bounded organelle. Is active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 17.8), thyroid (RPKM 3.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SAYSD1 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (39104063..39115186, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (38928495..38939618, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (39071839..39082962, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39041503-39042360 Neighboring gene uncharacterized LOC105375046 Neighboring gene glucagon like peptide 1 receptor Neighboring gene VISTA enhancer hs2612 Neighboring gene microRNA 9983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24488 Neighboring gene ankyrin repeat domain 18E, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr6:39099268-39099866 Neighboring gene MPRA-validated peak5798 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:39170808-39172007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39176709-39177666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39177695-39178235 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91581 Neighboring gene potassium two pore domain channel subfamily K member 5 Neighboring gene Sharpr-MPRA regulatory region 4644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39197829-39198556 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39231061-39231786 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39231787-39232512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39240749-39241250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39241251-39241750 Neighboring gene NANOG hESC enhancer GRCh37_chr6:39259242-39259743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39264681-39265194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24489 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:39271654-39271813 Neighboring gene uncharacterized LOC105375047 Neighboring gene potassium two pore domain channel subfamily K member 17

    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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    Related articles in PubMed

    1. SAYSD1 senses UFMylated ribosome to safeguard co-translational protein translocation at the endoplasmic reticulum. Wang L, et al. Cell Rep, 2023 Jan 31. PMID 36848233, Free PMC Article
    2. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article
    3. Interpreting cancer genomes using systematic host network perturbations by tumour virus proteins. Rozenblatt-Rosen O, et al. Nature, 2012 Jul 26. PMID 22810586, Free PMC Article
    4. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
    5. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • FLJ11101, DKFZp434H012

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UFM1-modified protein reader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein quality control for misfolded or incompletely synthesized proteins IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in rescue of stalled ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    SAYSvFN domain-containing protein 1

    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_001304793.2 → NP_001291722.1  SAYSvFN domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001291722.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) use and alternate exon in the 5' UTR and 5' coding region which results in the use of an alternate start codon. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AF086405, AL035690, CR627244
      UniProtKB/Swiss-Prot
      Q9NPB0
      Conserved Domains (1) summary
      pfam10260
      Location:51 → 103
      SAYSvFN; Uncharacterized conserved domain (SAYSvFN)

    2. NM_018322.3 → NP_060792.1  SAYSvFN domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060792.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF086405, AL035690, BC022007, DA977455
      Consensus CDS
      CCDS4840.1
      UniProtKB/Swiss-Prot
      Q9H0D8, Q9NPB0
      Related
      ENSP00000229903.4, ENST00000229903.5
      Conserved Domains (1) summary
      pfam10260
      Location:118 → 170
      SAYSvFN; Uncharacterized conserved domain (SAYSvFN)

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      39104063..39115186 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      38928495..38939618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPB0.1 GenPept UniProtKB/Swiss-Prot:Q9NPB0

    Gene LinkOut

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

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