U.S. flag

An official website of the United States government

Links from OMIM

    • Showing Current items.

    SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79987, updated on 10-Dec-2024

    Summary

    Official Symbol
    SVEP1provided by HGNC
    Official Full Name
    sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:15985
    See related
    Ensembl:ENSG00000165124 MIM:611691; AllianceGenome:HGNC:15985
    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
    CCP22; SELOB; SEL-OB; C9orf13; POLYDOM
    Summary
    Enables integrin binding activity. Involved in negative regulation of vasoconstriction and positive regulation of platelet activation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in placenta (RPKM 31.0), fat (RPKM 15.2) and 13 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SVEP1 in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (110365248..110579741, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (122534766..122749357, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (113127528..113342021, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987114 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104724 Neighboring gene uncharacterized LOC124902246 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:113040078-113041277 Neighboring gene thioredoxin domain containing 8 Neighboring gene uncharacterized LOC124902245 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104913 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104925 Neighboring gene Sharpr-MPRA regulatory region 12709 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104987 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105021 Neighboring gene RNA, U6 small nuclear 1039, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105134 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105151 Neighboring gene U6 spliceosomal RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:113340888-113341388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:113341389-113341889 Neighboring gene Sharpr-MPRA regulatory region 9261 Neighboring gene uncharacterized LOC124902247 Neighboring gene uncharacterized LOC105376218 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105200 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105219 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105225

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (11 hits/1219 screens)

    EBI GWAS Catalog

    Description
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    EBI GWAS Catalog
    Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Joint influence of small-effect genetic variants on human longevity.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ16013, FLJ90719

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding  
    enables chromatin binding  
    enables integrin binding PubMed 
    enables integrin binding involved in cell-matrix adhesion  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in Tie signaling pathway  
    involved_in cell-matrix adhesion  
    involved_in epidermis development  
    involved_in gene expression  
    involved_in lymph circulation  
    involved_in lymph vessel morphogenesis  
    involved_in negative regulation of vasoconstriction PubMed 
    involved_in positive regulation of platelet activation PubMed 
    involved_in tight junction organization  
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in extracellular region  
    located_in membrane  
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1
    Names
    CCP module-containing protein 22
    selectin-like osteoblast-derived protein
    selectin-like protein
    serologically defined breast cancer antigen NY-BR-38

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_153366.4NP_699197.3  sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 precursor

      See identical proteins and their annotated locations for NP_699197.3

      Status: VALIDATED

      Source sequence(s)
      AK075200, AL158158, AL832416, AY243503, BC030816, BF368046, BX106110, CX165144, DR008048, DV080389
      Consensus CDS
      CCDS48004.1
      UniProtKB/Swiss-Prot
      Q0P675, Q4LDE5, Q5D213, Q5T938, Q5VTE4, Q5VTE5, Q7Z387, Q7Z3G3, Q8NBT9, Q96JU7, Q9H284, Q9H8J9
      UniProtKB/TrEMBL
      Q5JB40
      Related
      ENSP00000363593.2, ENST00000374469.6
      Conserved Domains (12) summary
      cd00033
      Location:438494
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02639
      Location:27142887
      PHA02639; EEV host range protein; Provisional
      PHA02817
      Location:19582079
      PHA02817; EEV Host range protein; Provisional
      PHA02831
      Location:22802436
      PHA02831; EEV host range protein; Provisional
      smart00179
      Location:17451783
      EGF_CA; Calcium-binding EGF-like domain
      PHA02927
      Location:17892017
      PHA02927; secreted complement-binding protein; Provisional
      cd00054
      Location:13831419
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00084
      Location:16281685
      Sushi; Sushi repeat (SCR repeat)
      pfam00092
      Location:84258
      VWA; von Willebrand factor type A domain
      pfam07699
      Location:10051052
      Ephrin_rec_like; Putative ephrin-receptor like
      cl03620
      Location:560642
      DUF5011; Domain of unknown function (DUF5011)
      cl22861
      Location:14241622
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    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
      110365248..110579741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      122534766..122749357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    External link. Please review our privacy policy.