Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Transmembrane protein 5

Gene

TMEM5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Biological processi

  • protein O-linked mannosylation Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

UniPathwayiUPA00378.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 5
Gene namesi
Name:TMEM5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:13530. TMEM5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 99CytoplasmicSequence analysis
Transmembranei10 – 3021Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini31 – 443413ExtracellularSequence analysisAdd
BLAST

GO - Cellular componenti

  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
See also OMIM:615041
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti339 – 3391Y → C in MDDGA10. 1 Publication
VAR_069738
Natural varianti340 – 3401R → L in MDDGA10. 1 Publication
VAR_069739

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

MalaCardsiTMEM5.
MIMi615041. phenotype.
Orphaneti899. Walker-Warburg syndrome.
PharmGKBiPA37796.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 443443Transmembrane protein 5PRO_0000072587Add
BLAST

Proteomic databases

MaxQBiQ9Y2B1.
PaxDbiQ9Y2B1.
PRIDEiQ9Y2B1.

PTM databases

iPTMnetiQ9Y2B1.
PhosphoSiteiQ9Y2B1.

Expressioni

Gene expression databases

BgeeiQ9Y2B1.
CleanExiHS_TMEM5.
ExpressionAtlasiQ9Y2B1. baseline and differential.
GenevisibleiQ9Y2B1. HS.

Interactioni

Protein-protein interaction databases

BioGridi115612. 14 interactions.
IntActiQ9Y2B1. 1 interaction.
STRINGi9606.ENSP00000261234.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2B1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM5 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFPG. Eukaryota.
ENOG410YH22. LUCA.
GeneTreeiENSGT00390000003526.
HOGENOMiHOG000007907.
HOVERGENiHBG061171.
InParanoidiQ9Y2B1.
OMAiIFIKNWK.
OrthoDBiEOG7SN8DB.
PhylomeDBiQ9Y2B1.
TreeFamiTF328717.

Family and domain databases

InterProiIPR004263. Exostosin.
[Graphical view]
PfamiPF03016. Exostosin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y2B1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRLTRKRLCS FLIALYCLFS LYAAYHVFFG RRRQAPAGSP RGLRKGAAPA
60 70 80 90 100
RERRGREQST LESEEWNPWE GDEKNEQQHR FKTSLQILDK STKGKTDLSV
110 120 130 140 150
QIWGKAAIGL YLWEHIFEGL LDPSDVTAQW REGKSIVGRT QYSFITGPAV
160 170 180 190 200
IPGYFSVDVN NVVLILNGRE KAKIFYATQW LLYAQNLVQI QKLQHLAVVL
210 220 230 240 250
LGNEHCDNEW INPFLKRNGG FVELLFIIYD SPWINDVDVF QWPLGVATYR
260 270 280 290 300
NFPVVEASWS MLHDERPYLC NFLGTIYENS SRQALMNILK KDGNDKLCWV
310 320 330 340 350
SAREHWQPQE TNESLKNYQD ALLQSDLTLC PVGVNTECYR IYEACSYGSI
360 370 380 390 400
PVVEDVMTAG NCGNTSVHHG APLQLLKSMG APFIFIKNWK ELPAVLEKEK
410 420 430 440
TIILQEKIER RKMLLQWYQH FKTELKMKFT NILESSFLMN NKS
Length:443
Mass (Da):51,146
Last modified:November 1, 1999 - v1
Checksum:i07BBD23A91973A52
GO

Sequence cautioni

The sequence AAH02596.1 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti339 – 3391Y → C in MDDGA10. 1 Publication
VAR_069738
Natural varianti340 – 3401R → L in MDDGA10. 1 Publication
VAR_069739

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB015633 mRNA. Translation: BAA76500.1.
AK289382 mRNA. Translation: BAF82071.1.
CH471054 Genomic DNA. Translation: EAW97121.1.
BC002596 mRNA. Translation: AAH02596.1. Sequence problems.
BC013152 mRNA. Translation: AAH13152.1.
CCDSiCCDS8966.1.
RefSeqiNP_001265166.1. NM_001278237.1.
NP_055069.1. NM_014254.2.
UniGeneiHs.216386.
Hs.716859.

Genome annotation databases

EnsembliENST00000261234; ENSP00000261234; ENSG00000118600.
GeneIDi10329.
KEGGihsa:10329.
UCSCiuc001srq.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB015633 mRNA. Translation: BAA76500.1.
AK289382 mRNA. Translation: BAF82071.1.
CH471054 Genomic DNA. Translation: EAW97121.1.
BC002596 mRNA. Translation: AAH02596.1. Sequence problems.
BC013152 mRNA. Translation: AAH13152.1.
CCDSiCCDS8966.1.
RefSeqiNP_001265166.1. NM_001278237.1.
NP_055069.1. NM_014254.2.
UniGeneiHs.216386.
Hs.716859.

3D structure databases

ProteinModelPortaliQ9Y2B1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115612. 14 interactions.
IntActiQ9Y2B1. 1 interaction.
STRINGi9606.ENSP00000261234.

PTM databases

iPTMnetiQ9Y2B1.
PhosphoSiteiQ9Y2B1.

Proteomic databases

MaxQBiQ9Y2B1.
PaxDbiQ9Y2B1.
PRIDEiQ9Y2B1.

Protocols and materials databases

DNASUi10329.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261234; ENSP00000261234; ENSG00000118600.
GeneIDi10329.
KEGGihsa:10329.
UCSCiuc001srq.3. human.

Organism-specific databases

CTDi10329.
GeneCardsiTMEM5.
HGNCiHGNC:13530. TMEM5.
MalaCardsiTMEM5.
MIMi605862. gene.
615041. phenotype.
neXtProtiNX_Q9Y2B1.
Orphaneti899. Walker-Warburg syndrome.
PharmGKBiPA37796.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFPG. Eukaryota.
ENOG410YH22. LUCA.
GeneTreeiENSGT00390000003526.
HOGENOMiHOG000007907.
HOVERGENiHBG061171.
InParanoidiQ9Y2B1.
OMAiIFIKNWK.
OrthoDBiEOG7SN8DB.
PhylomeDBiQ9Y2B1.
TreeFamiTF328717.

Enzyme and pathway databases

UniPathwayiUPA00378.

Miscellaneous databases

ChiTaRSiTMEM5. human.
GenomeRNAii10329.
NextBioi39161.
PROiQ9Y2B1.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y2B1.
CleanExiHS_TMEM5.
ExpressionAtlasiQ9Y2B1. baseline and differential.
GenevisibleiQ9Y2B1. HS.

Family and domain databases

InterProiIPR004263. Exostosin.
[Graphical view]
PfamiPF03016. Exostosin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Selection of cDNAs encoding putative type II membrane proteins on the cell surface from a human full-length cDNA bank."
    Yokoyama-Kobayashi M., Yamaguchi T., Sekine S., Kato S.
    Gene 228:161-167(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Adrenal gland.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Ovary and Skin.
  5. Cited for: INVOLVEMENT IN MDDGA10.
  6. "The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation."
    Willer T., Inamori K.I., Venzke D., Harvey C., Morgensen G., Hara Y., Beltran Valero de Bernabe D., Yu L., Wright K.M., Campbell K.P.
    Elife 3:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, PATHWAY.
  7. Cited for: VARIANTS MDDGA10 CYS-339 AND LEU-340.

Entry informationi

Entry nameiTMEM5_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2B1
Secondary accession number(s): A8K017, Q6PKD6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: November 1, 1999
Last modified: May 11, 2016
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.