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TMEM107 transmembrane protein 107 [ Homo sapiens (human) ]

Gene ID: 84314, updated on 30-Jun-2019

Summary

Official Symbol
TMEM107provided by HGNC
Official Full Name
transmembrane protein 107provided by HGNC
Primary source
HGNC:HGNC:28128
See related
Ensembl:ENSG00000179029 MIM:616183
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
MKS13; JBTS29; GRVS638; PRO1268
Summary
This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 5.2) and 25 other tissues See more
Orthologs

Genomic context

See TMEM107 in Genome Data Viewer
Location:
17p13.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (8172457..8176380, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8076296..8079723, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene period circadian regulator 1 Neighboring gene microRNA 6883 Neighboring gene vesicle associated membrane protein 2 Neighboring gene uncharacterized LOC105371520 Neighboring gene small nucleolar RNA, C/D box 118 Neighboring gene tRNA-Trp (anticodon CCA) 3-3 Neighboring gene tRNA-Ser (anticodon GCT) 4-3 Neighboring gene microRNA 4521

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

Clone Names

  • MGC10744

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IDA
Inferred from Direct Assay
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MKS complex IDA
Inferred from Direct Assay
more info
PubMed 
ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
integral component of 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_054916.1 RefSeqGene

    Range
    5001..8952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351278.2NP_001338207.1  transmembrane protein 107 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC129492, BC070231
    Consensus CDS
    CCDS86572.1
    Related
    ENSP00000436674.1, ENST00000533070.5
    Conserved Domains (1) summary
    pfam14995
    Location:7128
    TMEM107; Transmembrane protein
  2. NM_001351279.2NP_001338208.1  transmembrane protein 107 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC129492
    Conserved Domains (1) summary
    pfam14995
    Location:7122
    TMEM107; Transmembrane protein
  3. NM_001351280.2NP_001338209.1  transmembrane protein 107 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC129492
    Consensus CDS
    CCDS86571.1
    Related
    ENSP00000389420.2, ENST00000431792.2
    Conserved Domains (1) summary
    pfam14995
    Location:769
    TMEM107; Transmembrane protein
  4. NM_032354.5NP_115730.2  transmembrane protein 107 isoform 1

    See identical proteins and their annotated locations for NP_115730.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC129492, AF311338
    Consensus CDS
    CCDS11132.1
    UniProtKB/Swiss-Prot
    Q6UX40
    Related
    ENSP00000314116.5, ENST00000316425.9
    Conserved Domains (1) summary
    pfam14995
    Location:7135
    TMEM107; Transmembrane protein
  5. NM_183065.4NP_898888.1  transmembrane protein 107 isoform 2

    See identical proteins and their annotated locations for NP_898888.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC129492, AF311338, BC127649
    Consensus CDS
    CCDS45607.1
    UniProtKB/Swiss-Prot
    Q6UX40
    Related
    ENSP00000402732.2, ENST00000437139.6
    Conserved Domains (1) summary
    pfam14995
    Location:7129
    TMEM107; Transmembrane protein

RNA

  1. NR_147092.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC129492, BC119731

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    8172457..8176380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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