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FLASH GENE
Symbol TMEM5 contributors: mct - updated : 16-01-2013
HGNC name transmembrane protein 5
HGNC id 13530
Corresponding disease
WLKWS8 Walker-Warburg syndrome 8
Location 12q14.2      Physical location : 64.173.636 - 64.202.887
Synonym name putative type II membrane protein
Synonym symbol(s) HP10481
DNA
TYPE functioning gene
STRUCTURE 29.25 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
PGBD3P1 12q13.12 piggyBac transposable element derived 3 pseudogene 1 TAFA2 12q13.3-q14.1 TAFA2 protein LOC144583 12q14.1 hypothetical gene supported by AK025388 USP15 12q14 ubiquitin specific protease 15 KIAA1040 12q14.1 KIAA1040 protein FLJ25590 12q14.1 hypothetical protein FLJ25590 ARHCL1 12q14.1 ras homolog gene family, member C like 1 LOC390337 12 similar to RIKEN cDNA A430075L18 gene LOC144581 12q14.1 similar to ribosomal protein L14; 60S ribosomal protein L14 LOC121498 12q14.1 similar to lactate dehydrogenase A -like AVPR1A 12q14 arginine vasopressin receptor 1A FLJ32949 12q14.1 hypothetical protein FLJ32949 LOC390338 12 similar to T-box transcription factor TBX20 TMEM5 12q14.1 transmembrane protein 5 LOC341315 12q14.1 similar to Polyadenylate-binding protein 1 (Poly(A)-binding protein 1) (PABP 1) SRGAP1 12q13.13 SLIT-ROBO Rho GTPase activating protein 1 FLJ32549 12q14.1 hypothetical protein FLJ32549 LOC115749 12q14.1 hypothetical protein LOC115749 LOC390339 12 similar to 40S ribosomal protein S11 XPOT 12q14 exportin, tRNA (nuclear export receptor for tRNAs) TBK1 13q14.2-q14.3 TANK-binding kinase 1 RASSF3 12q14.1 Ras association (RalGDS/AF-6) domain family 3 GNS 12q14 glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) KIAA0984 12q13.13 glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) WIF1 12q13.13 WNT inhibitory factor 1 MAN1 12q14 WNT inhibitory factor 1 LOC253827 12q14.1 hypothetical protein LOC253827 LOC387865 12 LOC387865 LOC204010 12q14.2 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) HMGA2 12q14-q15 high mobility group AT-hook 2 LOC341321 12q14.2 similar to 60S ribosomal protein L21 MGC14817 12q14.2 hypothetical protein MGC14817 CGI-119 12q14.1-q15 CGI-119 protein IRAK3 12q13.13 interleukin-1 receptor-associated kinase 3 RBMS1P 12q14.2 RNA binding motif, single stranded interacting protein 1, pseudogene LOC387866 12 LOC387866 LOC390340 12 similar to IAP-associated factor VIAF1; phosducin-like 2 HELB 12q14.2 helicase (DNA) B GRIP1 12q14.1-q14.2 glutamate receptor interacting protein 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1451 - 443 - 1999 10072769
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Respiratorylung    
Urinarykidney    
Visualeyelens   
 eyeuveachoroid  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a glycosyltransferase domain
  • a signal anchor for a type II membrane protein encoded by AAs 1030
  • a cytoplasmic domain encoded by AAs 19
  • a domain that has some similarities to exostosin (AAs 218353), which is a domain found in EXT1
  • an extracellular domain encoded by AAs 31443
  • HOMOLOGY
    Homologene
    FAMILY
  • TMEM5 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text type 2 transmembrane protein
    basic FUNCTION
  • transmembrane protein with a potential glycosyltransferase function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WLKWS8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS