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    SUSD4 sushi domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 55061, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SUSD4provided by HGNC
    Official Full Name
    sushi domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:25470
    See related
    Ensembl:ENSG00000143502 MIM:615827; AllianceGenome:HGNC:25470
    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
    PRO222
    Summary
    Involved in negative regulation of complement activation, alternative pathway and negative regulation of complement activation, classical pathway. Predicted to be located in extracellular region and membrane. Predicted to be active in parallel fiber to Purkinje cell synapse and postsynaptic membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in esophagus (RPKM 11.1), ovary (RPKM 10.5) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SUSD4 in Genome Data Viewer
    Location:
    1q41
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (223220831..223365235, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (222458935..222603343, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (223394173..223537518, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223289865-223290366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2587 Neighboring gene toll like receptor 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1840 Neighboring gene uncharacterized LOC124904522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223416162-223416662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2588 Neighboring gene Sharpr-MPRA regulatory region 8379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223514378-223514878 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:223515369-223515546 Neighboring gene uncharacterized LOC105373025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223567321-223567822 Neighboring gene RNA, U4 small nuclear 57, pseudogene Neighboring gene coiled-coil domain containing 185

    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. Pan-cancer analysis of Sushi domain-containing protein 4 (SUSD4) and validated in colorectal cancer. Zhong Y, et al. Aging (Albany NY), 2024 Apr 4. PMID 38579174, Free PMC Article
    2. Sushi domain-containing protein 4 binds to epithelial growth factor receptor and initiates autophagy in an EGFR phosphorylation independent manner. Papadakos KS, et al. J Exp Clin Cancer Res, 2022 Dec 29. PMID 36578014, Free PMC Article
    3. The human complement inhibitor Sushi Domain-Containing Protein 4 (SUSD4) expression in tumor cells and infiltrating T cells is associated with better prognosis of breast cancer patients. Englund E, et al. BMC Cancer, 2015 Oct 19. PMID 26480818, Free PMC Article
    4. Sushi domain-containing protein 4 (SUSD4) inhibits complement by disrupting the formation of the classical C3 convertase. Holmquist E, et al. FASEB J, 2013 Jun. PMID 23482636
    5. Tissue distribution and functional analysis of Sushi domain-containing protein 4. Tu Z, et al. Am J Pathol, 2010 May. PMID 20348246, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pan-cancer analysis of Sushi domain-containing protein 4 (SUSD4) and validated in colorectal cancer.
      Title: Pan-cancer analysis of Sushi domain-containing protein 4 (SUSD4) and validated in colorectal cancer.
    2. Sushi domain-containing protein 4 binds to epithelial growth factor receptor and initiates autophagy in an EGFR phosphorylation independent manner.
      Title: Sushi domain-containing protein 4 binds to epithelial growth factor receptor and initiates autophagy in an EGFR phosphorylation independent manner.
    3. SUSD4 expression in both breast cancer cells and T cells infiltrating the tumor-associated stroma is useful to predict better prognosis of breast cancer patients.
      Title: The human complement inhibitor Sushi Domain-Containing Protein 4 (SUSD4) expression in tumor cells and infiltrating T cells is associated with better prognosis of breast cancer patients.
    4. Membrane-bound isoform SUSD4a inhibits the classical and alternative complement pathways when expressed on the surface of Chinese hamster cells but not when expressed as a soluble, truncated protein.
      Title: Sushi domain-containing protein 4 (SUSD4) inhibits complement by disrupting the formation of the classical C3 convertase.
    5. analysis of cloning, expression, refolding, and tissue distribution of Sushi domain-containing protein 4
      Title: Tissue distribution and functional analysis of Sushi domain-containing protein 4.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10052

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of complement activation, alternative pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of complement activation, classical pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of complement activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sushi domain-containing protein 4
    Names
    YHGM196
    testicular secretory protein Li 55

    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_001037175.3 → NP_001032252.1  sushi domain-containing protein 4 isoform b precursor

      See identical proteins and their annotated locations for NP_001032252.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC004888, DA125047
      Consensus CDS
      CCDS31034.1
      UniProtKB/TrEMBL
      A0A140VK55, A0A7P0T8V7
      Related
      ENSP00000339926.6, ENST00000344029.6
      Conserved Domains (1) summary
      cl27761
      Location:30 → 238
      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_001410929.1 → NP_001397858.1  sushi domain-containing protein 4 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL359733, AL359979
      Consensus CDS
      CCDS91160.1
      UniProtKB/TrEMBL
      A0A7P0T864, A0A7P0Z457
      Related
      ENSP00000505301.1, ENST00000681285.1

    3. NM_017982.4 → NP_060452.3  sushi domain-containing protein 4 isoform a precursor

      See identical proteins and their annotated locations for NP_060452.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK096265, AY358495, BF446433, DA125047
      Consensus CDS
      CCDS41471.1
      UniProtKB/Swiss-Prot
      D3DTB9, Q5VX71, Q6UX62, Q9BSR0, Q9NWG0
      UniProtKB/TrEMBL
      A5YM74, B3KTY0
      Related
      ENSP00000355843.4, ENST00000366878.9
      Conserved Domains (3) summary
      cd00033
      Location:180 → 237
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:243 → 297
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:54 → 296
      PHA02927; secreted complement-binding protein; Provisional

    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
      223220831..223365235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447936.2 → XP_024303704.1  sushi domain-containing protein 4 isoform X3

      UniProtKB/TrEMBL
      A5YM74, B3KTY0

    2. XM_017001583.2 → XP_016857072.1  sushi domain-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T864

    3. XM_017001587.2 → XP_016857076.1  sushi domain-containing protein 4 isoform X4

      UniProtKB/Swiss-Prot
      D3DTB9, Q5VX71, Q6UX62, Q9BSR0, Q9NWG0
      UniProtKB/TrEMBL
      A5YM74, B3KTY0
      Related
      ENSP00000505495.1, ENST00000681669.1
      Conserved Domains (3) summary
      cd00033
      Location:180 → 237
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:243 → 297
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:54 → 296
      PHA02927; secreted complement-binding protein; Provisional

    4. XM_005273169.2 → XP_005273226.1  sushi domain-containing protein 4 isoform X3

      See identical proteins and their annotated locations for XP_005273226.1

      UniProtKB/TrEMBL
      A5YM74, B3KTY0
      Related
      ENSP00000477374.1, ENST00000484758.6
      Conserved Domains (3) summary
      cd00033
      Location:180 → 237
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:245 → 299
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:54 → 298
      PHA02927; secreted complement-binding protein; Provisional

    5. XM_017001585.2 → XP_016857074.1  sushi domain-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      A0A7P0T864

    6. XM_017001586.2 → XP_016857075.1  sushi domain-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      A0A7P0T864

    7. XM_011509685.2 → XP_011507987.1  sushi domain-containing protein 4 isoform X3

      See identical proteins and their annotated locations for XP_011507987.1

      UniProtKB/TrEMBL
      A5YM74, B3KTY0
      Conserved Domains (3) summary
      cd00033
      Location:180 → 237
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:245 → 299
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:54 → 298
      PHA02927; secreted complement-binding protein; Provisional

    8. XM_047423711.1 → XP_047279667.1  sushi domain-containing protein 4 isoform X3

      UniProtKB/TrEMBL
      A5YM74, B3KTY0
      Related
      ENSP00000477432.1, ENST00000608996.5

    9. XM_047423713.1 → XP_047279669.1  sushi domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      B7Z469, C9J204

    10. XM_017001589.2 → XP_016857078.1  sushi domain-containing protein 4 isoform X5

    11. XM_047423719.1 → XP_047279675.1  sushi domain-containing protein 4 isoform X7

      UniProtKB/TrEMBL
      A0A140VK55, A0A7P0T8V7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      222458935..222603343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337305.1 → XP_054193280.1  sushi domain-containing protein 4 isoform X3

      UniProtKB/TrEMBL
      A5YM74, B3KTY0

    2. XM_054337301.1 → XP_054193276.1  sushi domain-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T864

    3. XM_054337307.1 → XP_054193282.1  sushi domain-containing protein 4 isoform X4

      UniProtKB/Swiss-Prot
      D3DTB9, Q5VX71, Q6UX62, Q9BSR0, Q9NWG0
      UniProtKB/TrEMBL
      A5YM74, B3KTY0

    4. XM_054337304.1 → XP_054193279.1  sushi domain-containing protein 4 isoform X3

      UniProtKB/TrEMBL
      A5YM74, B3KTY0

    5. XM_054337302.1 → XP_054193277.1  sushi domain-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      A0A7P0T864

    6. XM_054337303.1 → XP_054193278.1  sushi domain-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      A0A7P0T864

    7. XM_054337306.1 → XP_054193281.1  sushi domain-containing protein 4 isoform X3

      UniProtKB/TrEMBL
      A5YM74, B3KTY0

    8. XM_054337309.1 → XP_054193284.1  sushi domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      B7Z469, C9J204

    9. XM_054337308.1 → XP_054193283.1  sushi domain-containing protein 4 isoform X5

    10. XM_054337310.1 → XP_054193285.1  sushi domain-containing protein 4 isoform X7

      UniProtKB/TrEMBL
      A0A140VK55, A0A7P0T8V7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VX71.1 GenPept UniProtKB/Swiss-Prot:Q5VX71

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