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SMIM24 small integral membrane protein 24 [ Homo sapiens (human) ]

Gene ID: 284422, updated on 5-Mar-2024

Summary

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Official Symbol
SMIM24provided by HGNC
Official Full Name
small integral membrane protein 24provided by HGNC
Primary source
HGNC:HGNC:37244
See related
Ensembl:ENSG00000095932 AllianceGenome:HGNC:37244
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
MARDI; HSPC323; C19orf77
Summary
Predicted to be located in membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in kidney (RPKM 301.3), duodenum (RPKM 292.3) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3473986..3480525, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3452142..3458692, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3473984..3480523, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CUGBP Elav-like family member 5 Neighboring gene uncharacterized LOC105372244 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3301113-3301307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13733 Neighboring gene skeletal muscle cis-regulatory module in NFIC intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3389688-3390265 Neighboring gene nuclear factor I C Neighboring gene Sharpr-MPRA regulatory region 10296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3434103-3434880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3434881-3435658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3445307-3445848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3462537-3463072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3463073-3463608 Neighboring gene MPRA-validated peak3246 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3465190-3465690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3465691-3466191 Neighboring gene Sharpr-MPRA regulatory region 13615 Neighboring gene uncharacterized LOC105372246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3483217-3483755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9846 Neighboring gene MPRA-validated peak3248 silencer Neighboring gene uncharacterized LOC105372245 Neighboring gene small integral membrane protein 44 Neighboring gene deoxyhypusine hydroxylase

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. MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2. Coady MJ, et al. J Am Soc Nephrol, 2017 Jan. PMID 27288013, Free PMC Article
  2. Identification of the Tetraspanin CD9 as an Interaction Partner of Organic Cation Transporters 1 and 2. Snieder B, et al. SLAS Discov, 2019 Oct. PMID 31318583
  3. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. Prunotto M, et al. J Proteomics, 2013 Apr 26. PMID 23376485
  5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

See all (6) 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
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
small integral membrane protein 24
Names
MAP17-related dimer
transmembrane protein C19orf77
transmembrane protein HSPC323

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_001136503.2 → NP_001129975.1  small integral membrane protein 24 precursor

    See identical proteins and their annotated locations for NP_001129975.1

    Status: VALIDATED

    Source sequence(s)
    AC005551, BM769757, BU733823
    Consensus CDS
    CCDS45915.1
    UniProtKB/Swiss-Prot
    B9EJF4, O75264, Q9P059
    Related
    ENSP00000215531.4, ENST00000215531.6
    Conserved Domains (1) summary
    pfam15807
    Location:16 → 130
    MAP17; Membrane-associated protein 117 kDa, PDZK1-interacting protein 1

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    3473986..3480525 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    3452142..3458692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75264.2 GenPept UniProtKB/Swiss-Prot:O75264

Gene LinkOut

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