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

Gene ID: 55061, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in esophagus (RPKM 11.1), ovary (RPKM 10.5) and 13 other tissues See more
Orthologs
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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 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)

Genotypes

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
    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

    Related
    ENSP00000477432.1, ENST00000608996.5

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

  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

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

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

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

    UniProtKB/Swiss-Prot
    D3DTB9, Q5VX71, Q6UX62, Q9BSR0, Q9NWG0

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

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

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

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

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

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

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