Format

Send to:

Choose Destination

SMIM29 small integral membrane protein 29 [ Homo sapiens (human) ]

Gene ID: 221491, updated on 23-Nov-2021

Summary

Official Symbol
SMIM29provided by HGNC
Official Full Name
small integral membrane protein 29provided by HGNC
Primary source
HGNC:HGNC:1340
See related
Ensembl:ENSG00000186577 MIM:611419
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
LBH; C6orf1
Expression
Ubiquitous expression in brain (RPKM 16.6), skin (RPKM 10.3) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SMIM29 in Genome Data Viewer
Location:
6p21.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (34246395..34249006, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (34214172..34216783, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NFE2L2 motif-containing MPRA enhancer 296 Neighboring gene microRNA 6835 Neighboring gene high mobility group AT-hook 1 Neighboring gene ribosomal protein L35 pseudogene 2 Neighboring gene RPS10-NUDT3 readthrough Neighboring gene nudix hydrolase 3

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Identification of 15 loci influencing height in a Korean population.
GeneReviews: Not available
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of chromosome 6 open reading frame 1 (C6orf1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC57858

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
small integral membrane protein 29
Names
uncharacterized protein C6orf1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001008703.4NP_001008703.2  small integral membrane protein 29 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK290164, BU956518
    Consensus CDS
    CCDS4790.1
    Related
    ENSP00000417604.2, ENST00000476320.6
  2. NM_001008704.4NP_001008704.2  small integral membrane protein 29 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    BC023627, BU956518
    Related
    ENSP00000378441.5, ENST00000394990.8
  3. NM_001287396.3NP_001274325.2  small integral membrane protein 29 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    BU194178, BU956518, CK001844
    Related
    ENSP00000418884.2, ENST00000468145.1
  4. NM_178508.6NP_848603.3  small integral membrane protein 29 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC047919, BU956518, CK001844
    Consensus CDS
    CCDS4790.1
    Related
    ENSP00000418062.2, ENST00000481533.5

RNA

  1. NR_155741.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the 5' terminal exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BM474526, BU956518
    Related
    ENST00000413013.6
  2. NR_155742.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC009526, BU956518
    Related
    ENST00000637920.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    34246395..34249006 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001287397.1: Suppressed sequence

    Description
    NM_001287397.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001287398.1: Suppressed sequence

    Description
    NM_001287398.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Support Center