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

Gene ID: 55776, updated on 5-Mar-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
Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 17.8), thyroid (RPKM 3.3) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
6p21.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (39104063..39115186, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (38928495..38939618, complement)
105.20220307 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. 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
  2. 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
  3. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
  4. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article

See all (15) 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)

Genotypes

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

Component Evidence Code Pubs
located_in cytoplasmic vesicle 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_2023_10

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

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