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

    Gene ID: 114788, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:19291
    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
    Summary
    Predicted to be involved in regulation of dendrite development. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 1.9), testis (RPKM 0.7) and 1 other tissue See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    8q23.3
    Exon count:
    74
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (112222928..113436939, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (113347915..114561864, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (113235157..114449168, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375707 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:112928926-112929652 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:113206999-113207584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:113230017-113230753 Neighboring gene RNA, U4 small nuclear 37, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr8:113479947-113480134 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:113606539-113607126 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:113685670-113686869 Neighboring gene ribosomal protein L30 pseudogene 16 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:113784503-113785202 Neighboring gene microRNA 2053 Neighboring gene uncharacterized LOC107986966 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:114444309-114445508 Neighboring gene uncharacterized LOC105375709 Neighboring gene NANOG hESC enhancer GRCh37_chr8:114447752-114448262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:114450102-114450602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:114536695-114537196 Neighboring gene ribosomal protein L18 pseudogene 7 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:114992841-114993557 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:115017837-115018380 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:115253724-115254490 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:115258898-115259836 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:115289230-115289421 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:115293734-115294656 Neighboring gene uncharacterized LOC105375710 Neighboring gene Sharpr-MPRA regulatory region 9676 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1894

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in 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)

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

      Status: VALIDATED

      Source sequence(s)
      AB067481, AB114604, AB114605, AY210419
      UniProtKB/TrEMBL
      H7BXX0
      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/TrEMBL
      H7BXX0
      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, Q96PZ3
      UniProtKB/TrEMBL
      H7BXX0
      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/TrEMBL
      H7BXX0
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      112222928..113436939 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013010.2XP_016868499.1  CUB and sushi domain-containing protein 3 isoform X5

      UniProtKB/TrEMBL
      H7BXX0
    2. XM_011516816.3XP_011515118.1  CUB and sushi domain-containing protein 3 isoform X4

      UniProtKB/TrEMBL
      H7BXX0
      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)
    3. XM_047421314.1XP_047277270.1  CUB and sushi domain-containing protein 3 isoform X3

    4. XM_017013008.2XP_016868497.1  CUB and sushi domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      H7BXX0
    5. XM_017013009.3XP_016868498.1  CUB and sushi domain-containing protein 3 isoform X2

      UniProtKB/TrEMBL
      H7BXX0
    6. XM_011516815.3XP_011515117.1  CUB and sushi domain-containing protein 3 isoform X6

      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)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      113347915..114561864 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359698.1XP_054215673.1  CUB and sushi domain-containing protein 3 isoform X5

    2. XM_054359697.1XP_054215672.1  CUB and sushi domain-containing protein 3 isoform X4

    3. XM_054359696.1XP_054215671.1  CUB and sushi domain-containing protein 3 isoform X3

    4. XM_054359694.1XP_054215669.1  CUB and sushi domain-containing protein 3 isoform X1

    5. XM_054359695.1XP_054215670.1  CUB and sushi domain-containing protein 3 isoform X2

    6. XM_054359699.1XP_054215674.1  CUB and sushi domain-containing protein 3 isoform X7

    7. XM_054359700.1XP_054215675.1  CUB and sushi domain-containing protein 3 isoform X6