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SUSD1 sushi domain containing 1 [ Homo sapiens (human) ]

Gene ID: 64420, updated on 23-Nov-2021

Summary

Official Symbol
SUSD1provided by HGNC
Official Full Name
sushi domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25413
See related
Ensembl:ENSG00000106868
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
Ubiquitous expression in placenta (RPKM 5.9), urinary bladder (RPKM 5.8) and 25 other tissues See more
Orthologs
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Genomic context

See SUSD1 in Genome Data Viewer
Location:
9q31.3-q32
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (112040783..112175515, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (114803063..114937577, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 710, pseudogene Neighboring gene uncharacterized LOC105376220 Neighboring gene RNA, U6 small nuclear 855, pseudogene Neighboring gene ribosomal protein L29 pseudogene 20 Neighboring gene polypyrimidine tract binding protein 3 Neighboring gene RNA, 7SL, cytoplasmic 57, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 295

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

Phenotypes

Associated conditions

Description Tests
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
GeneReviews: Not available
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sushi domain-containing protein 1

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_001282640.2NP_001269569.1  sushi domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001269569.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL138756, BC021125, BC060770, DB221801
    Consensus CDS
    CCDS65106.1
    UniProtKB/Swiss-Prot
    Q6UWL2
    Related
    ENSP00000363382.2, ENST00000374264.6
    Conserved Domains (3) summary
    cd00033
    Location:179235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:125156
    EGF_CA; Calcium-binding EGF-like domain
    pfam12947
    Location:4269
    EGF_3; EGF domain
  2. NM_001282643.2NP_001269572.1  sushi domain-containing protein 1 isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region compare to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK056704, AL138756, AL158824, AY358746, BM998810
    Consensus CDS
    CCDS65105.1
    UniProtKB/Swiss-Prot
    Q6UWL2
    UniProtKB/TrEMBL
    F8WAQ1
    Related
    ENSP00000363381.3, ENST00000374263.7
    Conserved Domains (3) summary
    cd00033
    Location:179235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:125156
    EGF_CA; Calcium-binding EGF-like domain
    pfam12947
    Location:4269
    EGF_3; EGF domain
  3. NM_022486.5NP_071931.2  sushi domain-containing protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_071931.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compare to isoform 1.
    Source sequence(s)
    AK292868, AL138756, AY358746, BC021125
    Consensus CDS
    CCDS6783.1
    UniProtKB/Swiss-Prot
    Q6UWL2
    Related
    ENSP00000363388.4, ENST00000374270.8
    Conserved Domains (3) summary
    cd00033
    Location:179235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:125156
    EGF_CA; Calcium-binding EGF-like domain
    pfam12947
    Location:4269
    EGF_3; EGF domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    112040783..112175515 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518919.2XP_011517221.1  sushi domain-containing protein 1 isoform X7

    Conserved Domains (3) summary
    cd00033
    Location:127183
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:73104
    EGF_CA; Calcium-binding EGF-like domain
    pfam12947
    Location:4269
    EGF_3; EGF domain
  2. XM_017015038.2XP_016870527.1  sushi domain-containing protein 1 isoform X6

  3. XM_017015039.2XP_016870528.1  sushi domain-containing protein 1 isoform X8

  4. XM_017015037.2XP_016870526.1  sushi domain-containing protein 1 isoform X5

  5. XM_011518917.2XP_011517219.1  sushi domain-containing protein 1 isoform X3

    Conserved Domains (3) summary
    cd00033
    Location:179235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:125156
    EGF_CA; Calcium-binding EGF-like domain
    pfam12947
    Location:4269
    EGF_3; EGF domain
  6. XM_011518918.2XP_011517220.1  sushi domain-containing protein 1 isoform X4

    Conserved Domains (3) summary
    cd00033
    Location:179235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:125156
    EGF_CA; Calcium-binding EGF-like domain
    pfam12947
    Location:4269
    EGF_3; EGF domain
  7. XM_011518916.3XP_011517218.1  sushi domain-containing protein 1 isoform X2

    Conserved Domains (3) summary
    cd00033
    Location:179235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:125156
    EGF_CA; Calcium-binding EGF-like domain
    pfam12947
    Location:4269
    EGF_3; EGF domain
  8. XM_011518915.2XP_011517217.1  sushi domain-containing protein 1 isoform X1

    Conserved Domains (3) summary
    cd00033
    Location:179235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:125156
    EGF_CA; Calcium-binding EGF-like domain
    pfam12947
    Location:4269
    EGF_3; EGF domain
  9. XM_017015040.2XP_016870529.1  sushi domain-containing protein 1 isoform X9

RNA

  1. XR_929833.2 RNA Sequence

  2. XR_929835.2 RNA Sequence

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