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    SUCO SUN domain containing ossification factor [ Homo sapiens (human) ]

    Gene ID: 51430, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SUCOprovided by HGNC
    Official Full Name
    SUN domain containing ossification factorprovided by HGNC
    Primary source
    HGNC:HGNC:1240
    See related
    Ensembl:ENSG00000094975 MIM:619434; AllianceGenome:HGNC:1240
    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
    CH1; OPT; SLP1; C1orf9
    Summary
    Predicted to be involved in positive regulation of collagen biosynthetic process; positive regulation of osteoblast differentiation; and regulation of bone remodeling. Predicted to be located in rough endoplasmic reticulum. Predicted to be active in cytoplasm and membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 30.3), testis (RPKM 17.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SUCO in Genome Data Viewer
    Location:
    1q24.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (172532349..172611833)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (171889056..171968934)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (172501489..172580973)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene dynamin 3 Neighboring gene uncharacterized LOC102724528 Neighboring gene NANOG hESC enhancer GRCh37_chr1:172397968-172398490 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:172413041-172413564 Neighboring gene chromosome 1 open reading frame 105 Neighboring gene Sharpr-MPRA regulatory region 10840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:172466106-172466606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:172466607-172467107 Neighboring gene Sharpr-MPRA regulatory region 5023 Neighboring gene Sharpr-MPRA regulatory region 3225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2092 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2094 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:172539927-172540926 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:172607677-172608876 Neighboring gene RNA, U6 small nuclear 693, pseudogene Neighboring gene Fas ligand

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The C1orf9 gene encodes a putative transmembrane member of a novel protein family. Røsok O, et al. Biochem Biophys Res Commun, 2000 Jan 27. PMID 10673381
    2. Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1. Yu N, et al. Mol Biol Evol, 2001 Feb. PMID 11158380
    3. Three conformational states of the p300 CH1 domain define its functional properties. Dial R, et al. Biochemistry, 2003 Aug 26. PMID 12924942
    4. Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy. Sha Z, et al. Neurosci Lett, 2015 Mar 30. PMID 25668491
    5. Osteopotentia regulates osteoblast maturation, bone formation, and skeletal integrity in mice. Sohaskey ML, et al. J Cell Biol, 2010 May 3. PMID 20440000, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of collagen biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of bone remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of bone remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in rough endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in rough endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    SUN domain-containing ossification factor
    Names
    SUN-like protein 1
    membrane protein CH1
    osteopotentia

    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_001282750.2 → NP_001269679.1  SUN domain-containing ossification factor isoform 3 precursor

      See identical proteins and their annotated locations for NP_001269679.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' and 3' coding region, and initiates translation at a downstream AUG, compared to variant 2. The encoded protein (isoform 3) is shorter than isoform 2.
      Source sequence(s)
      AJ250075, AK302509, AL035291, DB093941
      Consensus CDS
      CCDS65727.1
      UniProtKB/TrEMBL
      B4DYM4
      Related
      ENSP00000476704.1, ENST00000610051.5
      Conserved Domains (2) summary
      pfam03938
      Location:565 → 639
      OmpH; Outer membrane protein (OmpH-like)
      pfam07738
      Location:286 → 415
      Sad1_UNC; Sad1 / UNC-like C-terminal

    2. NM_001282751.2 → NP_001269680.1  SUN domain-containing ossification factor isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains multiple differences in the 5' UTR and coding region, compared to variant 2. This variant represents translation initiation at a downstream AUG compared to variant 2; the 5'-most initiation codon, as used in variant 2, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG.
      Source sequence(s)
      AJ250075, AL035291, BC144487, DB093941
      Consensus CDS
      CCDS72984.1
      UniProtKB/TrEMBL
      A0A087WV04
      Related
      ENSP00000479061.1, ENST00000616058.4
      Conserved Domains (1) summary
      pfam04899
      Location:373 → 442
      MbeD_MobD; MbeD/MobD like

    3. NM_014283.5 → NP_055098.1  SUN domain-containing ossification factor isoform 1 precursor

      See identical proteins and their annotated locations for NP_055098.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and 5' coding region and initiates translation at a downstream AUG, compared to variant 2. The encoded protein (isoform 1) is shorter than isoform 2.
      Source sequence(s)
      AJ250075, AL035291, BC137125, DB093941
      Consensus CDS
      CCDS1303.1
      UniProtKB/Swiss-Prot
      B2RNU4, Q9BQB9, Q9BXQ2, Q9UBS9, Q9UL04
      UniProtKB/TrEMBL
      B4DZJ3
      Related
      ENSP00000263688.3, ENST00000263688.4
      Conserved Domains (3) summary
      pfam04899
      Location:936 → 1005
      MbeD_MobD; MbeD/MobD like
      pfam03938
      Location:936 → 991
      OmpH; Outer membrane protein (OmpH-like)
      pfam07738
      Location:323 → 452
      Sad1_UNC; Sad1 / UNC-like C-terminal

    4. NM_016227.4 → NP_057311.3  SUN domain-containing ossification factor isoform 2

      See identical proteins and their annotated locations for NP_057311.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AF097535, AJ250075, AL035291, Z94054
      Consensus CDS
      CCDS65726.1
      Related
      ENSP00000356696.4, ENST00000367723.8
      Conserved Domains (2) summary
      pfam04899
      Location:1087 → 1156
      MbeD_MobD; MbeD/MobD like
      pfam07738
      Location:481 → 603
      Sad1_UNC; Sad1 / UNC-like C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      172532349..172611833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711374.3 → XP_006711437.1  SUN domain-containing ossification factor isoform X1

      UniProtKB/TrEMBL
      B4DZJ3
      Conserved Domains (3) summary
      pfam04899
      Location:929 → 998
      MbeD_MobD; MbeD/MobD like
      pfam03938
      Location:929 → 984
      OmpH; Outer membrane protein (OmpH-like)
      pfam07738
      Location:323 → 445
      Sad1_UNC; Sad1 / UNC-like C-terminal

    2. XM_006711375.3 → XP_006711438.1  SUN domain-containing ossification factor isoform X2

      UniProtKB/TrEMBL
      B4DZJ3
      Conserved Domains (2) summary
      pfam04899
      Location:899 → 968
      MbeD_MobD; MbeD/MobD like
      pfam07738
      Location:286 → 415
      Sad1_UNC; Sad1 / UNC-like C-terminal

    3. XM_006711376.2 → XP_006711439.1  SUN domain-containing ossification factor isoform X3

      UniProtKB/TrEMBL
      B4DZJ3
      Conserved Domains (3) summary
      pfam05483
      Location:796 → 970
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      pfam07738
      Location:286 → 408
      Sad1_UNC; Sad1 / UNC-like C-terminal
      pfam03938
      Location:892 → 947
      OmpH; Outer membrane protein (OmpH-like)

    RNA

    1. XR_007060764.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      171889056..171968934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336963.1 → XP_054192938.1  SUN domain-containing ossification factor isoform X1

    2. XM_054336964.1 → XP_054192939.1  SUN domain-containing ossification factor isoform X2

    3. XM_054336965.1 → XP_054192940.1  SUN domain-containing ossification factor isoform X3

    RNA

    1. XR_008486064.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBS9.1 GenPept UniProtKB/Swiss-Prot:Q9UBS9

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