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CSMD3 CUB and Sushi multiple domains 3 [ Homo sapiens (human) ]

Gene ID: 114788, updated on 13-Mar-2020

Summary

Official Symbol
CSMD3provided by HGNC
Official Full Name
CUB and Sushi multiple domains 3provided by HGNC
Primary source
HGNC:HGNC:19291
See related
Ensembl:ENSG00000164796 MIM:608399
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
Expression
Biased expression in brain (RPKM 1.9), testis (RPKM 0.7) and 1 other tissue See more
Orthologs

Genomic context

See CSMD3 in Genome Data Viewer
Location:
8q23.3
Exon count:
75
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (112222928..113437499, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (113235157..114449242, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375707 Neighboring gene RNA, U4 small nuclear 37, pseudogene Neighboring gene ribosomal protein L30 pseudogene 16 Neighboring gene microRNA 2053 Neighboring gene uncharacterized LOC107986966 Neighboring gene uncharacterized LOC105375709 Neighboring gene ribosomal protein L18 pseudogene 7 Neighboring gene uncharacterized LOC105375710 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 7 pseudogene

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
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
NHGRI GWA Catalog
A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
NHGRI GWA Catalog
Genome-wide association study of periodontal pathogen colonization.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1894

Gene Ontology Provided by GOA

Process Evidence Code Pubs
regulation of dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
CUB and sushi domain-containing protein 3
Names
CUB and sushi multiple domains protein 3

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_001363185.1NP_001350114.1  CUB and sushi domain-containing protein 3 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AB067481, AB114604, AB114605, AY210419
    Related
    ENSP00000341558.3, ENST00000339701.7
    Conserved Domains (5) summary
    cd00033
    Location:534588
    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:880933
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:14581565
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:13981454
    Sushi; Sushi repeat (SCR repeat)
    cl27761
    Location:29683207
    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_052900.3NP_443132.3  CUB and sushi domain-containing protein 3 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (c) differs in the 5' UTR and 5' coding region, compared to variant a. The resulting isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB114604, AB114605, AY210419
    Consensus CDS
    CCDS6316.2
    UniProtKB/Swiss-Prot
    Q7Z407
    Related
    ENSP00000412263.2, ENST00000455883.2
    Conserved Domains (5) summary
    cd00033
    Location:26482702
    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:906959
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:29993238
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:14841591
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:30643117
    Sushi; Sushi repeat (SCR repeat)
  3. NM_198123.2NP_937756.1  CUB and sushi domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_937756.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB114604, AB114605, AY210419
    Consensus CDS
    CCDS6315.1
    UniProtKB/Swiss-Prot
    Q7Z407
    Related
    ENSP00000297405.5, ENST00000297405.10
    Conserved Domains (5) summary
    cd00033
    Location:28172871
    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:10101063
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:31683407
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:15881695
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:32333286
    Sushi; Sushi repeat (SCR repeat)
  4. NM_198124.2NP_937757.1  CUB and sushi domain-containing protein 3 isoform 2

    See identical proteins and their annotated locations for NP_937757.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (b) lacks two alternate in-frame exons in the mid coding region, compared to variant a. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB114605, AY210419
    Consensus CDS
    CCDS6317.1
    UniProtKB/Swiss-Prot
    Q7Z407
    Related
    ENSP00000345799.3, ENST00000343508.7
    Conserved Domains (5) summary
    cd00033
    Location:27772831
    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:9701023
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:31283367
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:15481655
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:31933246
    Sushi; Sushi repeat (SCR repeat)

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_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    112222928..113437499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013009.2XP_016868498.1  CUB and sushi domain-containing protein 3 isoform X2

    UniProtKB/Swiss-Prot
    Q7Z407
  2. XM_017013010.1XP_016868499.1  CUB and sushi domain-containing protein 3 isoform X4

  3. XM_011516816.2XP_011515118.1  CUB and sushi domain-containing protein 3 isoform X3

    Conserved Domains (5) summary
    cd00033
    Location:27132767
    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:906959
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:30643303
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:14841591
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:31293182
    Sushi; Sushi repeat (SCR repeat)
  4. XM_017013008.1XP_016868497.1  CUB and sushi domain-containing protein 3 isoform X1

  5. XM_017013012.1XP_016868501.1  CUB and sushi domain-containing protein 3 isoform X6

  6. XM_011516815.2XP_011515117.1  CUB and sushi domain-containing protein 3 isoform X7

    Conserved Domains (4) summary
    cd00033
    Location:12831337
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:16341873
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:54161
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:16991752
    Sushi; Sushi repeat (SCR repeat)
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