Format

Send to:

Choose Destination

TMEM185A transmembrane protein 185A [ Homo sapiens (human) ]

Gene ID: 84548, updated on 21-Dec-2019

Summary

Official Symbol
TMEM185Aprovided by HGNC
Official Full Name
transmembrane protein 185Aprovided by HGNC
Primary source
HGNC:HGNC:17125
See related
Ensembl:ENSG00000269556 MIM:300031
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
ee3; FRAXF; FAM11A; CXorf13
Summary
The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in ovary (RPKM 13.5), placenta (RPKM 12.6) and 25 other tissues See more
Orthologs

Genomic context

See TMEM185A in Genome Data Viewer
Location:
Xq28
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (149596556..149631912, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (148678216..148713487, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MAGE family member A9B Neighboring gene heat shock transcription factor family, X-linked 2 Neighboring gene FRAXF repeat instability region Neighboring gene MAGE family member A11 pseudogene Neighboring gene MAGE family member A11

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC118844, MGC118845

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 185A
Names
family with sequence similarity 11, member A
fragile site, folic acid type, rare, fra(X)(q28) F

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_016831.2 RefSeqGene

    Range
    5041..40277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174092.2NP_001167563.1  transmembrane protein 185A isoform 2

    See identical proteins and their annotated locations for NP_001167563.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AF530473, AK297335, DA206736
    Consensus CDS
    CCDS55523.1
    UniProtKB/Swiss-Prot
    Q8NFB2
    UniProtKB/TrEMBL
    B7Z4G6
    Related
    ENSP00000483235.1, ENST00000611119.4
    Conserved Domains (1) summary
    pfam10269
    Location:12194
    Tmemb_185A; Transmembrane Fragile-X-F protein
  2. NM_001282302.2NP_001269231.1  transmembrane protein 185A isoform 3

    See identical proteins and their annotated locations for NP_001269231.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC244197, AF530473, BC022405, BG721461, BQ224383, DA206736
    Consensus CDS
    CCDS76041.1
    UniProtKB/Swiss-Prot
    Q8NFB2
    UniProtKB/TrEMBL
    E7EMM1, Q8TCB3
    Related
    ENSP00000427766.1, ENST00000507237.5
    Conserved Domains (1) summary
    pfam10269
    Location:31170
    Tmemb_185A; Transmembrane Fragile-X-F protein
  3. NM_032508.4NP_115897.1  transmembrane protein 185A isoform 1

    See identical proteins and their annotated locations for NP_115897.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF530473, DA206736
    Consensus CDS
    CCDS14689.1
    UniProtKB/Swiss-Prot
    Q8NFB2
    Related
    ENSP00000471932.1, ENST00000600449.8
    Conserved Domains (1) summary
    pfam10269
    Location:31253
    Tmemb_185A; Transmembrane Fragile-X-F protein

RNA

  1. NR_104121.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several consecutive internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region and does not encode a supported protein.
    Source sequence(s)
    AF530473, AK097391, DA206736
    Related
    ENST00000612022.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    149596556..149631912 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center