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SMCO4 single-pass membrane protein with coiled-coil domains 4 [ Homo sapiens (human) ]

Gene ID: 56935, updated on 22-Sep-2022

Summary

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Official Symbol
SMCO4provided by HGNC
Official Full Name
single-pass membrane protein with coiled-coil domains 4provided by HGNC
Primary source
HGNC:HGNC:24810
See related
Ensembl:ENSG00000166002 MIM:609477; AllianceGenome:HGNC:24810
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
FN5; C11orf75
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in salivary gland (RPKM 8.9), prostate (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

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See SMCO4 in Genome Data Viewer
Location:
11q21
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (93478472..93553979, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (93394933..93459770, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (93211638..93276557, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATP synthase subunit ATP5MJ, mitochondrial-like Neighboring gene uncharacterized LOC124902734 Neighboring gene deuterosome assembly protein 1 Neighboring gene SRP14 pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 223, pseudogene Neighboring gene N-6 adenine-specific DNA methyltransferase 1 (putative) pseudogene

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. Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts. Kehrer-Sawatzki H, et al. Gene, 2000 Jun 13. PMID 10863097
  2. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
  3. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, 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

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

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
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 4
Names
UPF0443 protein C11orf75

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_020179.3 → NP_064564.1  single-pass membrane and coiled-coil domain-containing protein 4

    See identical proteins and their annotated locations for NP_064564.1

    Status: VALIDATED

    Source sequence(s)
    AF197137, AP003499, BC031564
    Consensus CDS
    CCDS8292.1
    UniProtKB/Swiss-Prot
    Q9NRQ5
    UniProtKB/TrEMBL
    A0A024R3A3
    Related
    ENSP00000298966.2, ENST00000298966.7
    Conserved Domains (1) summary
    pfam15012
    Location:1 → 55
    DUF4519; Domain of unknown function (DUF4519)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    93478472..93553979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542909.1 → XP_011541211.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X2

  2. XM_011542907.1 → XP_011541209.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X1

  3. XM_017018020.1 → XP_016873509.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X3

  4. XM_047427266.1 → XP_047283222.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X4

  5. XM_011542911.3 → XP_011541213.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    93394933..93459770 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NRQ5.1 GenPept UniProtKB/Swiss-Prot:Q9NRQ5

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