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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 29-Mar-2020

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
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
Expression
Biased expression in placenta (RPKM 31.0), fat (RPKM 15.2) and 13 other tissues See more
Orthologs

Genomic context

See SVEP1 in Genome Data Viewer
Location:
9q31.3
Exon count:
48
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (110365248..110579741, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (113127528..113342160, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987114 Neighboring gene thioredoxin domain containing 8 Neighboring gene RNA, U6 small nuclear 1039, pseudogene Neighboring gene uncharacterized LOC105376218 Neighboring gene muscle associated receptor tyrosine kinase Neighboring gene ribosomal protein S21 pseudogene 5

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

NHGRI GWAS Catalog

Description
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
NHGRI GWA Catalog
Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.
NHGRI GWA Catalog
Genome-wide association study of lung function decline in adults with and without asthma.
NHGRI GWA Catalog
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA 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
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Tie signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
epidermis development IEA
Inferred from Electronic Annotation
more info
 
gene expression IEA
Inferred from Electronic Annotation
more info
 
lymph circulation IEA
Inferred from Electronic Annotation
more info
 
lymph vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
tight junction organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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
    UniProtKB/TrEMBL
    B3KQM1, Q5JB40
    Related
    ENSP00000363593.2, ENST00000374469.6
    Conserved Domains (11) 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
    smart00032
    Location:27752828
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    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 ...
    pfam00008
    Location:11971225
    EGF; EGF-like domain
    pfam00084
    Location:16281685
    Sushi; Sushi repeat (SCR repeat)
    pfam00092
    Location:84258
    VWA; von Willebrand factor type A domain
    pfam07699
    Location:10051052
    GCC2_GCC3; GCC2 and GCC3
    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 Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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