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    TMEM138 transmembrane protein 138 [ Homo sapiens (human) ]

    Gene ID: 51524, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:26944
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TMEM138 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61362374..61376870)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61350982..61369065)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61129846..61136981)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:61067594-61068793 Neighboring gene damage specific DNA binding protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100139-61100661 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100662-61101184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61112523-61113449 Neighboring gene triokinase and FMN cyclase Neighboring gene cytochrome b561 family member A3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61129243-61129964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61159824-61160785 Neighboring gene transmembrane protein 216 Neighboring gene cleavage and polyadenylation specific factor 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61196662-61197310 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61197385-61197720

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    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.

    Genomic

    1. NG_032581.2 RefSeqGene

      Range
      5002..12137
      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_001410997.1NP_001397926.1  transmembrane protein 138 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP003108
      Consensus CDS
      CCDS91482.1
      UniProtKB/TrEMBL
      A0A8I5KS61
      Related
      ENSP00000508581.1, ENST00000451389.7
    3. NM_001410998.1NP_001397927.1  transmembrane protein 138 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP003108
      Consensus CDS
      CCDS91483.1
      UniProtKB/TrEMBL
      A0A8I5QKQ3
      Related
      ENSP00000509146.1, ENST00000691720.1
    4. NM_001410999.1NP_001397928.1  transmembrane protein 138 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP003108
      Consensus CDS
      CCDS91484.1
      Related
      ENSP00000509310.1, ENST00000692785.1
    5. 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
      A6NGA7, B4E044, Q5JPE1, 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: 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      61362374..61376870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545098.3XP_011543400.1  transmembrane protein 138 isoform X2

      Conserved Domains (1) summary
      pfam14935
      Location:38127
      TMEM138; Transmembrane protein 138
    2. XM_017017917.2XP_016873406.1  transmembrane protein 138 isoform X3

    3. XM_006718586.3XP_006718649.1  transmembrane protein 138 isoform X1

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

    RNA

    1. XR_007062486.1 RNA Sequence

    2. XR_949965.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      61350982..61369065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369117.1XP_054225092.1  transmembrane protein 138 isoform X2

    2. XM_054369118.1XP_054225093.1  transmembrane protein 138 isoform X3

    3. XM_054369115.1XP_054225090.1  transmembrane protein 138 isoform X1

    4. XM_054369116.1XP_054225091.1  transmembrane protein 138 isoform X4

      UniProtKB/TrEMBL
      A0A8I5KXM0