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SMCO1 single-pass membrane protein with coiled-coil domains 1 [ Homo sapiens (human) ]

Gene ID: 255798, updated on 2-Nov-2024

Summary

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Official Symbol
SMCO1provided by HGNC
Official Full Name
single-pass membrane protein with coiled-coil domains 1provided by HGNC
Primary source
HGNC:HGNC:27407
See related
Ensembl:ENSG00000214097 AllianceGenome:HGNC:27407
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
C3orf43
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward heart (RPKM 14.0) See more
Orthologs
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Genomic context

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See SMCO1 in Genome Data Viewer
Location:
3q29
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196506879..196520955, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199226058..199240237, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196233750..196242217, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene UBX domain protein 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196158055-196158829 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196158830-196159603 Neighboring gene UBXN7 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21092 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:196197078-196197254 Neighboring gene ring finger protein 168 Neighboring gene uncharacterized LOC105374306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196228749-196229433 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196229434-196230117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15065 Neighboring gene uncharacterized LOC105374307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196238811-196239311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15066 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:196260004-196260617 Neighboring gene NAA50 pseudogene 2 Neighboring gene ribosomal protein S29 pseudogene 3

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 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 novel protein C3orf43 accelerates hepatocyte proliferation. Zhang C, et al. Cell Mol Biol Lett, 2017. PMID 28932249, Free PMC Article
  2. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
  3. Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein-protein interactions in the human cell. Bartolec TK, et al. Proc Natl Acad Sci U S A, 2023 Apr 25. PMID 37071682, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

See all (8) 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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41923, MGC141734, MGC141735, DKFZp313B0440

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
single-pass membrane and coiled-coil 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_001077657.3 → NP_001071125.1  single-pass membrane and coiled-coil domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001071125.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK123917, AL833140, BC118636
    Consensus CDS
    CCDS43192.1
    UniProtKB/Swiss-Prot
    B3KW20, Q147U7
    UniProtKB/TrEMBL
    A8K657
    Related
    ENSP00000380671.2, ENST00000397537.3
    Conserved Domains (1) summary
    pfam15080
    Location:19 → 213
    DUF4547; Domain of unknown function (DUF4547)

  2. NM_001320473.2 → NP_001307402.1  single-pass membrane and coiled-coil domain-containing protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a distinct 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter than isoform 1.
    Source sequence(s)
    AL833140, AL833443
    UniProtKB/TrEMBL
    A8K657
    Conserved Domains (1) summary
    pfam15080
    Location:11 → 205
    DUF4547; Domain of unknown function (DUF4547)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    196506879..196520955 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453435.2 → XP_024309203.1  single-pass membrane and coiled-coil domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A8K657
    Conserved Domains (1) summary
    pfam15080
    Location:17 → 211
    DUF4547; Domain of unknown function (DUF4547)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    199226058..199240237 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346006.1 → XP_054201981.1  single-pass membrane and coiled-coil domain-containing protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q147U7.2 GenPept UniProtKB/Swiss-Prot:Q147U7

Gene LinkOut

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