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

Gene ID: 79987, updated on 23-Oct-2022

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
Predicted to enable calcium ion binding activity and chromatin binding activity. Predicted to be involved in epidermis development and lymph vessel morphogenesis. Predicted to act upstream of or within several processes, including Tie signaling pathway; lymph circulation; and lymph vessel development. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in placenta (RPKM 31.0), fat (RPKM 15.2) and 13 other tissues See more
Orthologs
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Genomic context

See SVEP1 in Genome Data Viewer
Location:
9q31.3
Exon count:
48
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (110365248..110579741, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (122534766..122749357, complement)
105.20220307 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 uncharacterized LOC124902246 Neighboring gene thioredoxin domain containing 8 Neighboring gene uncharacterized LOC124902245 Neighboring gene Sharpr-MPRA regulatory region 12709 Neighboring gene RNA, U6 small nuclear 1039, pseudogene Neighboring gene U6 spliceosomal RNA Neighboring gene Sharpr-MPRA regulatory region 9261 Neighboring gene uncharacterized LOC124902247

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16013, FLJ90719

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in Tie signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in epidermis development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in lymph circulation IEA
Inferred from Electronic Annotation
more info
 
involved_in lymph vessel morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tight junction organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
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)

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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_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
    Q4LDE5, Q9H8J9
    UniProtKB/TrEMBL
    B3KQM1, 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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_024500.2: Suppressed sequence

    Description
    NM_024500.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.