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

Gene ID: 201895, updated on 21-Dec-2019

Summary

Official Symbol
SMIM14provided by HGNC
Official Full Name
small integral membrane protein 14provided by HGNC
Primary source
HGNC:HGNC:27321
See related
Ensembl:ENSG00000163683
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
Expression
Ubiquitous expression in liver (RPKM 32.9), colon (RPKM 23.2) and 24 other tissues See more
Orthologs

Genomic context

See SMIM14 in Genome Data Viewer
Location:
4p14
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (39546336..39638865, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39548917..39640481, 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 UDP-glucose 6-dehydrogenase Neighboring gene UGDH antisense RNA 1 Neighboring gene RNA, U7 small nuclear 11 pseudogene Neighboring gene uncharacterized LOC105374419 Neighboring gene ubiquitin conjugating enzyme E2 K Neighboring gene RNA, 7SL, cytoplasmic 558, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13289

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
small integral membrane protein 14

NCBI Reference Sequences (RefSeq)

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_001317896.2NP_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
    A0A024R9S4
    Related
    ENSP00000422904.1, ENST00000505729.1
    Conserved Domains (1) summary
    pfam11027
    Location:397
    DUF2615; Protein of unknown function (DUF2615)
  2. NM_001317897.2NP_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
    A0A024R9S4
    Conserved Domains (1) summary
    pfam11027
    Location:397
    DUF2615; Protein of unknown function (DUF2615)
  3. NM_174921.3NP_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
    A0A024R9S4
    Related
    ENSP00000295958.4, ENST00000295958.10
    Conserved Domains (1) summary
    pfam11027
    Location:397
    DUF2615; Protein of unknown function (DUF2615)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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