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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
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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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