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TMEM138 transmembrane protein 138 [ Homo sapiens (human) ]

Gene ID: 51524, updated on 1-Aug-2020

Summary

Official Symbol
TMEM138provided by HGNC
Official Full Name
transmembrane protein 138provided by HGNC
Primary source
HGNC:HGNC:26944
See related
Ensembl:ENSG00000149483 MIM:614459
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSPC196
Summary
This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in adrenal (RPKM 10.4), lymph node (RPKM 5.7) and 25 other tissues See more
Orthologs

Genomic context

See TMEM138 in Genome Data Viewer
Location:
11q12.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (61362361..61378224)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61129473..61136977)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene damage specific DNA binding protein 1 Neighboring gene triokinase and FMN cyclase Neighboring gene cytochrome b561 family member A3 Neighboring gene transmembrane protein 216 Neighboring gene cleavage and polyadenylation specific factor 7

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
vacuolar membrane IEA
Inferred from Electronic Annotation
more info
 

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.

Genomic

  1. NG_032581.1 RefSeqGene

    Range
    5374..12509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330281.2NP_001317210.1  transmembrane protein 138 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AI097052, AP003108, BI907037, CB158071
    Consensus CDS
    CCDS81569.1
    UniProtKB/TrEMBL
    J3QSZ6
    Related
    ENSP00000371206.2, ENST00000381787.2
    Conserved Domains (1) summary
    pfam14935
    Location:198
    TMEM138; Transmembrane protein 138
  2. NM_016464.5NP_057548.1  transmembrane protein 138 isoform 1

    See identical proteins and their annotated locations for NP_057548.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AF151030, AI097052, AI768672, AP003108, BI907037
    Consensus CDS
    CCDS8005.1
    UniProtKB/Swiss-Prot
    Q9NPI0
    Related
    ENSP00000278826.5, ENST00000278826.11
    Conserved Domains (1) summary
    pfam14935
    Location:38156
    TMEM138; Transmembrane protein 138

RNA

  1. NR_028473.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment of an internal exon, compared to variant 1. This variant is represented as non-coding because there is uncertainty about its protein-coding capacity; it lacks the translational start codon, as found in variant 1, and the presence of multiple upstream ORFs may inhibit translation initiation from a downstream start codon.
    Source sequence(s)
    AI097052, AI768672, AP003108, CB956757

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    61362361..61378224
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545099.2XP_011543401.1  transmembrane protein 138 isoform X4

    Conserved Domains (1) summary
    pfam14935
    Location:38126
    TMEM138; Transmembrane protein 138
  2. XM_011545098.2XP_011543400.1  transmembrane protein 138 isoform X3

    Conserved Domains (1) summary
    pfam14935
    Location:38127
    TMEM138; Transmembrane protein 138
  3. XM_011545100.1XP_011543402.1  transmembrane protein 138 isoform X5

    Conserved Domains (1) summary
    pfam14935
    Location:38126
    TMEM138; Transmembrane protein 138
  4. XM_017017917.1XP_016873406.1  transmembrane protein 138 isoform X6

  5. XM_006718585.3XP_006718648.1  transmembrane protein 138 isoform X1

    See identical proteins and their annotated locations for XP_006718648.1

    UniProtKB/Swiss-Prot
    Q9NPI0
    Conserved Domains (1) summary
    pfam14935
    Location:38126
    TMEM138; Transmembrane protein 138
  6. XM_006718586.2XP_006718649.1  transmembrane protein 138 isoform X2

    Conserved Domains (1) summary
    pfam14935
    Location:38155
    TMEM138; Transmembrane protein 138

RNA

  1. XR_949966.2 RNA Sequence

  2. XR_949965.1 RNA Sequence

  3. XR_949964.3 RNA Sequence

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