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TMEM130 transmembrane protein 130 [ Homo sapiens (human) ]

Gene ID: 222865, updated on 1-Jun-2020

Summary

Official Symbol
TMEM130provided by HGNC
Official Full Name
transmembrane protein 130provided by HGNC
Primary source
HGNC:HGNC:25429
See related
Ensembl:ENSG00000166448
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
Expression
Biased expression in brain (RPKM 64.7), testis (RPKM 27.5) and 2 other tissues See more
Orthologs

Genomic context

See TMEM130 in Genome Data Viewer
Location:
7q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (98846490..98870014, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98444111..98467673, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375418 Neighboring gene RNA, U6 small nuclear 393, pseudogene Neighboring gene small Cajal body-specific RNA 28 Neighboring gene microRNA 3609 Neighboring gene transformation/transcription domain associated protein Neighboring gene RNF14 pseudogene 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

General gene information

Markers

Homology

Clone Names

  • FLJ42643, DKFZp761L1417

Gene Ontology Provided by GOA

Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_001134450.2NP_001127922.1  transmembrane protein 130 isoform a precursor

    See identical proteins and their annotated locations for NP_001127922.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC095044, AL834349, DA144530, DA154119
    Consensus CDS
    CCDS47650.1
    UniProtKB/Swiss-Prot
    Q8N3G9
    Related
    ENSP00000413163.2, ENST00000416379.6
    Conserved Domains (1) summary
    cd00146
    Location:144210
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
  2. NM_001134451.2NP_001127923.1  transmembrane protein 130 isoform c precursor

    See identical proteins and their annotated locations for NP_001127923.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site at the end of an exon and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC095044, BC030793, BC037895, DA144530
    Consensus CDS
    CCDS47649.1
    UniProtKB/Swiss-Prot
    Q8N3G9
    Related
    ENSP00000330262.4, ENST00000345589.4
    Conserved Domains (1) summary
    cd00146
    Location:42108
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
  3. NM_152913.3NP_690877.1  transmembrane protein 130 isoform b precursor

    See identical proteins and their annotated locations for NP_690877.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC095044, AL834348, BC030793, DA144530
    Consensus CDS
    CCDS5658.1
    UniProtKB/Swiss-Prot
    Q8N3G9
    Related
    ENSP00000341256.4, ENST00000339375.8
    Conserved Domains (1) summary
    cd00146
    Location:144210
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    98846490..98870014 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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