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

Gene ID: 51430, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 30.3), testis (RPKM 17.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q24.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (172532349..172611833)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (171889056..171968934)
105.20220307 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. 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
  2. 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
  3. Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy. Sha Z, et al. Neurosci Lett, 2015 Mar 30. PMID 25668491
  4. Three conformational states of the p300 CH1 domain define its functional properties. Dial R, et al. Biochemistry, 2003 Aug 26. PMID 12924942
  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 (22) 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)

Genotypes

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_2023_10

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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