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Protein

Transmembrane protein 104

Gene

TMEM104

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Protein family/group databases

TCDBi2.A.18.10.1. the amino acid/auxin permease (aaap) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 104
Gene namesi
Name:TMEM104
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000109066.13.
HGNCiHGNC:25984. TMEM104.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 10CytoplasmicSequence analysis10
Transmembranei11 – 31HelicalSequence analysisAdd BLAST21
Topological domaini32 – 36ExtracellularSequence analysis5
Transmembranei37 – 57HelicalSequence analysisAdd BLAST21
Topological domaini58 – 146CytoplasmicSequence analysisAdd BLAST89
Transmembranei147 – 167HelicalSequence analysisAdd BLAST21
Topological domaini168 – 204ExtracellularSequence analysisAdd BLAST37
Transmembranei205 – 225HelicalSequence analysisAdd BLAST21
Topological domaini226 – 233CytoplasmicSequence analysis8
Transmembranei234 – 254HelicalSequence analysisAdd BLAST21
Topological domaini255 – 276ExtracellularSequence analysisAdd BLAST22
Transmembranei277 – 297HelicalSequence analysisAdd BLAST21
Topological domaini298 – 306CytoplasmicSequence analysis9
Transmembranei307 – 327HelicalSequence analysisAdd BLAST21
Topological domaini328 – 354ExtracellularSequence analysisAdd BLAST27
Transmembranei355 – 375HelicalSequence analysisAdd BLAST21
Topological domaini376 – 397CytoplasmicSequence analysisAdd BLAST22
Transmembranei398 – 418HelicalSequence analysisAdd BLAST21
Topological domaini419 – 421ExtracellularSequence analysis3
Transmembranei422 – 442HelicalSequence analysisAdd BLAST21
Topological domaini443 – 470CytoplasmicSequence analysisAdd BLAST28
Transmembranei471 – 491HelicalSequence analysisAdd BLAST21
Topological domaini492 – 496ExtracellularSequence analysis5

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000109066.
PharmGKBiPA142670753.

Polymorphism and mutation databases

BioMutaiTMEM104.
DMDMi117949798.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002541781 – 496Transmembrane protein 104Add BLAST496

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi193N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8NE00.
MaxQBiQ8NE00.
PaxDbiQ8NE00.
PeptideAtlasiQ8NE00.
PRIDEiQ8NE00.

PTM databases

iPTMnetiQ8NE00.
PhosphoSitePlusiQ8NE00.

Expressioni

Gene expression databases

BgeeiENSG00000109066.
CleanExiHS_TMEM104.
ExpressionAtlasiQ8NE00. baseline and differential.
GenevisibleiQ8NE00. HS.

Organism-specific databases

HPAiHPA044330.

Interactioni

Protein-protein interaction databases

BioGridi120217. 4 interactors.
IntActiQ8NE00. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliQ8NE00.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM104 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3832. Eukaryota.
ENOG410XP37. LUCA.
GeneTreeiENSGT00390000001244.
HOGENOMiHOG000231060.
HOVERGENiHBG080085.
InParanoidiQ8NE00.
OMAiHTISRLS.
OrthoDBiEOG091G0E58.
PhylomeDBiQ8NE00.
TreeFamiTF314030.

Family and domain databases

InterProiView protein in InterPro
IPR013057. AA_transpt_TM.
PfamiView protein in Pfam
PF01490. Aa_trans. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NE00-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGEITETGE LYSSYVGLVY MFNLIVGTGA LTMPKAFATA GWLVSLVLLV
60 70 80 90 100
FLGFMSFVTT TFVIEAMAAA NAQLHWKRME NLKEEEDDDS STASDSDVLI
110 120 130 140 150
RDNYERAEKR PILSVQRRGS PNPFEITDRV EMGQMASMFF NKVGVNLFYF
160 170 180 190 200
CIIVYLYGDL AIYAAAVPFS LMQVTCSATG NDSCGVEADT KYNDTDRCWG
210 220 230 240 250
PLRRVDAYRI YLAIFTLLLG PFTFFDVQKT KYLQILTSLM RWIAFAVMIV
260 270 280 290 300
LALIRIGHGQ GEGHPPLADF SGVRNLFGVC VYSFMCQHSL PSLITPVSSK
310 320 330 340 350
RHLTRLVFLD YVLILAFYGL LSFTAIFCFR GDSLMDMYTL NFARCDVVGL
360 370 380 390 400
AAVRFFLGLF PVFTISTNFP IIAVTLRNNW KTLFHREGGT YPWVVDRVVF
410 420 430 440 450
PTITLVPPVL VAFCTHDLES LVGITGAYAG TGIQYVIPAF LVYHCRRDTQ
460 470 480 490
LAFGCGVSNK HRSPFRHTFW VGFVLLWAFS CFIFVTANII LSETKL
Length:496
Mass (Da):55,679
Last modified:October 31, 2006 - v2
Checksum:i4173D25DB4870426
GO
Isoform 2 (identifier: Q8NE00-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     244-314: AFAVMIVLAL...RLVFLDYVLI → DGPPGSVMGR...LPPHRSTRPT
     315-496: Missing.

Note: No experimental confirmation available.
Show »
Length:314
Mass (Da):34,796
Checksum:i405BCEC0DFFCAEE9
GO

Sequence cautioni

The sequence BAB84855 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02883158V → M2 PublicationsCorresponds to variant dbSNP:rs2016126Ensembl.1
Natural variantiVAR_028832439A → T. Corresponds to variant dbSNP:rs3803784Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_021199244 – 314AFAVM…DYVLI → DGPPGSVMGRAEEDASPAWP RSRCRCGGKLKLNSLYPTSA TCMAPDAPGAGQVKVGVNFL CLPPHRSTRPT in isoform 2. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_021200315 – 496Missing in isoform 2. 1 PublicationAdd BLAST182

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000262 mRNA. Translation: BAA91039.1.
AK074029 mRNA. Translation: BAB84855.1. Different initiation.
BC037278 mRNA. Translation: AAH37278.1.
AL137521 mRNA. Translation: CAB70787.1.
CCDSiCCDS32723.1. [Q8NE00-1]
CCDS82201.1. [Q8NE00-2]
PIRiT46367.
RefSeqiNP_001308193.1. NM_001321264.1. [Q8NE00-2]
NP_060198.3. NM_017728.3. [Q8NE00-1]
UniGeneiHs.370262.

Genome annotation databases

EnsembliENST00000335464; ENSP00000334849; ENSG00000109066. [Q8NE00-1]
ENST00000582330; ENSP00000461922; ENSG00000109066. [Q8NE00-1]
ENST00000582773; ENSP00000463205; ENSG00000109066. [Q8NE00-2]
GeneIDi54868.
KEGGihsa:54868.
UCSCiuc002jls.5. human. [Q8NE00-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTM104_HUMAN
AccessioniPrimary (citable) accession number: Q8NE00
Secondary accession number(s): Q8TEU1, Q9NT56, Q9NXH1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: September 27, 2017
This is version 113 of the entry and version 2 of the sequence. See 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 17
    Human chromosome 17: 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. SIMILARITY comments
    Index of protein domains and families