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    SUSD3 sushi domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 203328, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SUSD3provided by HGNC
    Official Full Name
    sushi domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:28391
    See related
    Ensembl:ENSG00000157303 MIM:616429; AllianceGenome:HGNC:28391
    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
    Summary
    Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 12.2), lymph node (RPKM 7.6) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SUSD3 in Genome Data Viewer
    Location:
    9q22.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (93058701..93085133)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (105225370..105251803)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95820983..95847415)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene arachidonate 15-lipoxygenase pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95727421-95728052 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95732487-95733178 Neighboring gene FYVE, RhoGEF and PH domain containing 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:95750216-95750914 Neighboring gene Sharpr-MPRA regulatory region 11306 Neighboring gene uncharacterized LOC101927954 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:95777618-95777854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95784152-95785052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95786616-95787408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95787409-95788200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95791307-95791808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95791809-95792308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95797249-95798042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95798869-95799762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95811946-95812603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95821078-95822058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95822059-95823039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95824548-95825115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28611 Neighboring gene Sharpr-MPRA regulatory region 12079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95844809-95845437 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95852051-95852551 Neighboring gene uncharacterized LOC101927993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95869787-95870287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28614 Neighboring gene caspase recruitment domain family member 19

    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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    Related articles in PubMed

    1. Expression and Clinical Significance of Sushi Domain- Containing Protein 3 (SUSD3) and Insulin-like Growth Factor-I Receptor (IGF-IR) in Breast Cancer. Zhao S, et al. Asian Pac J Cancer Prev, 2015. PMID 26745129
    2. Estrogen-dependent sushi domain containing 3 regulates cytoskeleton organization and migration in breast cancer cells. Moy I, et al. Oncogene, 2015 Jan 15. PMID 24413080, Free PMC Article
    3. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    4. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
    5. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High expression of SUSD3 is associated with breast cancer.
      Title: Expression and Clinical Significance of Sushi Domain- Containing Protein 3 (SUSD3) and Insulin-like Growth Factor-I Receptor (IGF-IR) in Breast Cancer.
    2. Data indicate that sushi domain containing 3 (SUSD3) is a promoter of estrogen-dependent cell proliferation and regulator of cell-cell and cell-substrate interactions and migration in breast cancer.
      Title: Estrogen-dependent sushi domain containing 3 regulates cytoskeleton organization and migration in breast cancer cells.
    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

    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

    • MGC26847

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sushi domain-containing protein 3

    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_001287005.2 → NP_001273934.1  sushi domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_001273934.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an additional exon in the 5' region, and it thus differs in its 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AY358190, DT220823
      Consensus CDS
      CCDS69620.1
      UniProtKB/Swiss-Prot
      Q96L08
      Conserved Domains (1) summary
      cd00033
      Location:19 → 79
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    2. NM_001287006.2 → NP_001273935.1  sushi domain-containing protein 3 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AY358190, DR007158, DT220823
      Consensus CDS
      CCDS75857.1
      UniProtKB/TrEMBL
      A0A087WVN2
      Related
      ENSP00000479555.1, ENST00000617293.4
      Conserved Domains (1) summary
      cd00033
      Location:32 → 92
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    3. NM_001287007.2 → NP_001273936.1  sushi domain-containing protein 3 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in both the 5' and 3' coding regions, compared to variant 1, resulting in an isoform (d) that is shorter than isoform a.
      Source sequence(s)
      BM458621, CB047753, DT220823
      Related
      ENSP00000474695.1, ENST00000471462.2

    4. NM_001287008.2 → NP_001273937.1  sushi domain-containing protein 3 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (e) that is shorter than isoform a.
      Source sequence(s)
      AI452970, AY358190, DT220823
      UniProtKB/TrEMBL
      S4R444

    5. NM_145006.4 → NP_659443.1  sushi domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_659443.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AY358190, BC014601, DT220823
      Consensus CDS
      CCDS6701.1
      UniProtKB/Swiss-Prot
      Q49AA6, Q6UXV7, Q96L08
      Related
      ENSP00000364621.3, ENST00000375472.8
      Conserved Domains (1) summary
      cd00033
      Location:32 → 92
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      93058701..93085133
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014450.2 → XP_016869939.1  sushi domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      Q96L08
      Conserved Domains (1) summary
      cd00033
      Location:19 → 79
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    2. XM_011518358.2 → XP_011516660.1  sushi domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011516660.1

      UniProtKB/Swiss-Prot
      Q96L08
      Conserved Domains (1) summary
      cd00033
      Location:19 → 79
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    3. XM_011518359.2 → XP_011516661.1  sushi domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011516661.1

      UniProtKB/Swiss-Prot
      Q96L08
      Conserved Domains (1) summary
      cd00033
      Location:19 → 79
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    4. XM_011518362.2 → XP_011516664.1  sushi domain-containing protein 3 isoform X3

      Conserved Domains (1) summary
      cd00033
      Location:2 → 35
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    5. XM_047422942.1 → XP_047278898.1  sushi domain-containing protein 3 isoform X1

    6. XM_047422941.1 → XP_047278897.1  sushi domain-containing protein 3 isoform X1

    7. XM_047422943.1 → XP_047278899.1  sushi domain-containing protein 3 isoform X1

      Related
      ENSP00000364618.1, ENST00000375469.5

    8. XM_017014451.3 → XP_016869940.1  sushi domain-containing protein 3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      105225370..105251803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362303.1 → XP_054218278.1  sushi domain-containing protein 3 isoform X1

    2. XM_054362300.1 → XP_054218275.1  sushi domain-containing protein 3 isoform X1

    3. XM_054362302.1 → XP_054218277.1  sushi domain-containing protein 3 isoform X1

    4. XM_054362301.1 → XP_054218276.1  sushi domain-containing protein 3 isoform X1

    5. XM_054362305.1 → XP_054218280.1  sushi domain-containing protein 3 isoform X3

    6. XM_054362304.1 → XP_054218279.1  sushi domain-containing protein 3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96L08.1 GenPept UniProtKB/Swiss-Prot:Q96L08

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