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SMIM23 small integral membrane protein 23 [ Homo sapiens (human) ]

Gene ID: 644994, updated on 2-Nov-2024

Summary

Official Symbol
SMIM23provided by HGNC
Official Full Name
small integral membrane protein 23provided by HGNC
Primary source
HGNC:HGNC:34440
See related
Ensembl:ENSG00000185662 AllianceGenome:HGNC:34440
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
C5orf50
Summary
Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 3.7) See more
Orthologs
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Genomic context

See SMIM23 in Genome Data Viewer
Location:
5q35.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (171772637..171791136)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (172312952..172331444)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (171212821..171218140)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171042917-171043902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171045888-171046390 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171050255-171051075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171071283-171071784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171071785-171072284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171094673-171095251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171095252-171095829 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171106695-171107194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171125320-171125820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171125821-171126321 Neighboring gene uncharacterized LOC105377724 Neighboring gene uncharacterized LOC105377723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171177581-171178080 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:171207801-171209000 Neighboring gene uncharacterized LOC105377725 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:171221789-171222988 Neighboring gene Sharpr-MPRA regulatory region 9260 Neighboring gene uncharacterized LOC107986476

Genomic regions, transcripts, and products

Expression

  • 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

General gene information

Markers

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
small integral membrane protein 23
Names
CTB-78H18.1

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_001289970.2NP_001276899.1  small integral membrane protein 23

    Status: VALIDATED

    Source sequence(s)
    AC011410, EG327678
    Consensus CDS
    CCDS87347.1
    UniProtKB/Swiss-Prot
    A6NLE4
    Related
    ENSP00000430818.4, ENST00000523047.4
    Conserved Domains (1) summary
    pfam15466
    Location:1139
    DUF4635; Domain of unknown function (DUF4635)

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    171772637..171791136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534624.2XP_011532926.1  small integral membrane protein 23 isoform X2

    See identical proteins and their annotated locations for XP_011532926.1

    Conserved Domains (1) summary
    pfam15466
    Location:14105
    DUF4635; Domain of unknown function (DUF4635)
  2. XM_011534623.2XP_011532925.1  small integral membrane protein 23 isoform X2

    See identical proteins and their annotated locations for XP_011532925.1

    Conserved Domains (1) summary
    pfam15466
    Location:14105
    DUF4635; Domain of unknown function (DUF4635)
  3. XM_011534622.1XP_011532924.1  small integral membrane protein 23 isoform X1

    Conserved Domains (1) summary
    pfam15466
    Location:1144
    DUF4635; Domain of unknown function (DUF4635)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    172312952..172331444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353135.1XP_054209110.1  small integral membrane protein 23 isoform X2

  2. XM_054353134.1XP_054209109.1  small integral membrane protein 23 isoform X2

  3. XM_054353133.1XP_054209108.1  small integral membrane protein 23 isoform X1