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SMIM14 small integral membrane protein 14 [ Homo sapiens (human) ]

Gene ID: 201895, updated on 3-Apr-2024

Summary

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Official Symbol
SMIM14provided by HGNC
Official Full Name
small integral membrane protein 14provided by HGNC
Primary source
HGNC:HGNC:27321
See related
Ensembl:ENSG00000163683 AllianceGenome:HGNC:27321
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
C4orf34
Summary
Predicted to act upstream of or within blastocyst hatching. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver (RPKM 32.9), colon (RPKM 23.2) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
4p14
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (39546336..39638865, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (39516003..39608640, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39547956..39640485, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 5 pseudogene Neighboring gene HNF1 and NFE2L2 motif-containing MPRA enhancers 6 and 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21460 Neighboring gene UDP-glucose 6-dehydrogenase Neighboring gene UGDH antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21464 Neighboring gene RNA, U7 small nuclear 11 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:39640427-39641144 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:39642916-39643511 Neighboring gene SMIM14 divergent transcript Neighboring gene MPRA-validated peak5027 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21467 Neighboring gene ubiquitin conjugating enzyme E2 K Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21468 Neighboring gene RNA, 7SL, cytoplasmic 558, 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. MISP: The missing link between extracellular matrix and astral microtubules. Nain AS, et al. Cell Cycle, 2013 Jun 15. PMID 23759569, Free PMC Article
  2. Characterization of the cellular localization of C4orf34 as a novel endoplasmic reticulum resident protein. Jun MH, et al. BMB Rep, 2014 Oct. PMID 24499674, Free PMC Article
  3. A protein interaction framework for human mRNA degradation. Lehner B, et al. Genome Res, 2004 Jul. PMID 15231747, Free PMC Article
  4. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. hC4orf34 is an endoplasmic reticulum-resident type I transmembrane protein.
    Title: Characterization of the cellular localization of C4orf34 as a novel endoplasmic reticulum resident protein.
Submit: New GeneRIF Correction

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

Clone Names

  • FLJ13289

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in blastocyst hatching IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
small integral membrane protein 14

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_001317896.2 → NP_001304825.1  small integral membrane protein 14

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AA480975, AC021148, BC008502, BE615527, HY004916, HY155982
    Consensus CDS
    CCDS3456.1
    UniProtKB/Swiss-Prot
    Q96QK8
    UniProtKB/TrEMBL
    D6R9U3
    Related
    ENSP00000422904.1, ENST00000505729.1
    Conserved Domains (1) summary
    pfam11027
    Location:3 → 97
    DUF2615; Protein of unknown function (DUF2615)

  2. NM_001317897.2 → NP_001304826.1  small integral membrane protein 14

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AA480975, AC021148, AC108471, BC008502, BE615527, BQ049060
    Consensus CDS
    CCDS3456.1
    UniProtKB/Swiss-Prot
    Q96QK8
    UniProtKB/TrEMBL
    D6R9U3
    Conserved Domains (1) summary
    pfam11027
    Location:3 → 97
    DUF2615; Protein of unknown function (DUF2615)

  3. NM_174921.3 → NP_777581.1  small integral membrane protein 14

    See identical proteins and their annotated locations for NP_777581.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AA480975, AC021148, BC008502, BE615527, HY155982
    Consensus CDS
    CCDS3456.1
    UniProtKB/Swiss-Prot
    Q96QK8
    UniProtKB/TrEMBL
    D6R9U3
    Related
    ENSP00000295958.4, ENST00000295958.10
    Conserved Domains (1) summary
    pfam11027
    Location:3 → 97
    DUF2615; Protein of unknown function (DUF2615)

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    39546336..39638865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449746.1 → XP_047305702.1  small integral membrane protein 14 isoform X2

    UniProtKB/Swiss-Prot
    Q96QK8

  2. XM_047449743.1 → XP_047305699.1  small integral membrane protein 14 isoform X1

  3. XM_047449744.1 → XP_047305700.1  small integral membrane protein 14 isoform X2

    UniProtKB/Swiss-Prot
    Q96QK8

  4. XM_047449745.1 → XP_047305701.1  small integral membrane protein 14 isoform X2

    UniProtKB/Swiss-Prot
    Q96QK8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    39516003..39608640 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349163.1 → XP_054205138.1  small integral membrane protein 14 isoform X1

  2. XM_054349165.1 → XP_054205140.1  small integral membrane protein 14 isoform X2

    UniProtKB/Swiss-Prot
    Q96QK8

  3. XM_054349164.1 → XP_054205139.1  small integral membrane protein 14 isoform X2

    UniProtKB/Swiss-Prot
    Q96QK8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96QK8.1 GenPept UniProtKB/Swiss-Prot:Q96QK8

Gene LinkOut

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