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Protein

Transmembrane 9 superfamily member 1

Gene

TM9SF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Plays an essential role in autophagy.1 Publication

GO - Biological processi

Keywordsi

Biological processAutophagy

Protein family/group databases

TCDBi8.A.68.1.13 the endomembrane protein-70 (emp70) family

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane 9 superfamily member 1
Alternative name(s):
MP70 protein family member
Short name:
hMP70
Gene namesi
Name:TM9SF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000100926.14
HGNCiHGNC:11864 TM9SF1
neXtProtiNX_O15321

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei237 – 257HelicalSequence analysisAdd BLAST21
Transmembranei310 – 330HelicalSequence analysisAdd BLAST21
Transmembranei339 – 359HelicalSequence analysisAdd BLAST21
Transmembranei373 – 393HelicalSequence analysisAdd BLAST21
Transmembranei412 – 432HelicalSequence analysisAdd BLAST21
Transmembranei469 – 489HelicalSequence analysisAdd BLAST21
Transmembranei499 – 519HelicalSequence analysisAdd BLAST21
Transmembranei535 – 555HelicalSequence analysisAdd BLAST21
Transmembranei570 – 590HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasmic vesicle, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000100926
PharmGKBiPA36565

Polymorphism and mutation databases

BioMutaiTM9SF1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000003436128 – 606Transmembrane 9 superfamily member 1Add BLAST579

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi178N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi401N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi559N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO15321
MaxQBiO15321
PaxDbiO15321
PeptideAtlasiO15321
PRIDEiO15321
ProteomicsDBi48589
48590 [O15321-2]

PTM databases

iPTMnetiO15321
PhosphoSitePlusiO15321

Expressioni

Tissue specificityi

Expressed in lung, pancreas, kidney, liver, placenta, skeletal muscle, heart and brain. The amount in skeletal muscle, heart and brain were considerably lower than in the other tissues.1 Publication

Gene expression databases

BgeeiENSG00000100926
CleanExiHS_TM9SF1
ExpressionAtlasiO15321 baseline and differential
GenevisibleiO15321 HS

Organism-specific databases

HPAiHPA059249

Interactioni

Protein-protein interaction databases

BioGridi115799, 10 interactors
IntActiO15321, 12 interactors
MINTiO15321
STRINGi9606.ENSP00000433967

Structurei

3D structure databases

ProteinModelPortaliO15321
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1277 Eukaryota
KOG1656 Eukaryota
ENOG410XSVB LUCA
GeneTreeiENSGT00530000062897
HOGENOMiHOG000216680
HOVERGENiHBG108585
InParanoidiO15321
KOiK17085
OrthoDBiEOG091G04HE
PhylomeDBiO15321
TreeFamiTF328663

Family and domain databases

InterProiView protein in InterPro
IPR004240 EMP70
PANTHERiPTHR10766 PTHR10766, 1 hit
PfamiView protein in Pfam
PF02990 EMP70, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: O15321-1) [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
MTVVGNPRSW SCQWLPILIL LLGTGHGPGV EGVTHYKAGD PVILYVNKVG
60 70 80 90 100
PYHNPQETYH YYQLPVCCPE KIRHKSLSLG EVLDGDRMAE SLYEIRFREN
110 120 130 140 150
VEKRILCHMQ LSSAQVEQLR QAIEELYYFE FVVDDLPIRG FVGYMEESGF
160 170 180 190 200
LPHSHKIGLW THLDFHLEFH GDRIIFANVS VRDVKPHSLD GLRPDEFLGL
210 220 230 240 250
THTYSVRWSE TSVERRSDRR RGDDGGFFPR TLEIHWLSII NSMVLVFLLV
260 270 280 290 300
GFVAVILMRV LRNDLARYNL DEETTSAGSG DDFDQGDNGW KIIHTDVFRF
310 320 330 340 350
PPYRGLLCAV LGVGAQFLAL GTGIIVMALL GMFNVHRHGA INSAAILLYA
360 370 380 390 400
LTCCISGYVS SHFYRQIGGE RWVWNIILTT SLFSVPFFLT WSVVNSVHWA
410 420 430 440 450
NGSTQALPAT TILLLLTVWL LVGFPLTVIG GIFGKNNASP FDAPCRTKNI
460 470 480 490 500
AREIPPQPWY KSTVIHMTVG GFLPFSAISV ELYYIFATVW GREQYTLYGI
510 520 530 540 550
LFFVFAILLS VGACISIALT YFQLSGEDYR WWWRSVLSVG STGLFIFLYS
560 570 580 590 600
VFYYARRSNM SGAVQTVEFF GYSLLTGYVF FLMLGTISFF SSLKFIRYIY

VNLKMD
Length:606
Mass (Da):68,861
Last modified:March 29, 2005 - v2
Checksum:i7E0E790B5C1451B9
GO
Isoform 2 (identifier: O15321-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     476-606: SAISVELYYI...RYIYVNLKMD → RYPPFIPWLLLSGS

Note: No experimental confirmation available.
Show »
Length:489
Mass (Da):55,251
Checksum:i7846334C9FB72910
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti455P → N in AAC51782 (PubMed:9332367).Curated1
Sequence conflicti464V → D in AAC51782 (PubMed:9332367).Curated1
Sequence conflicti514C → S in AAC51782 (PubMed:9332367).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05372818L → M. Corresponds to variant dbSNP:rs11549700Ensembl.1
Natural variantiVAR_024662215R → H. Corresponds to variant dbSNP:rs10583Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042781476 – 606SAISV…NLKMD → RYPPFIPWLLLSGS in isoform 2. 1 PublicationAdd BLAST131

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U94831 mRNA Translation: AAC51782.1
BX161390 mRNA Translation: CAD61879.1
BX161494 mRNA Translation: CAD61941.1
AL096870 Genomic DNA No translation available.
AL136295 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW66073.1
CH471078 Genomic DNA Translation: EAW66075.1
CH471078 Genomic DNA Translation: EAW66076.1
BC010856 mRNA Translation: AAH10856.1
CCDSiCCDS41934.1 [O15321-2]
CCDS9617.1 [O15321-1]
RefSeqiNP_001014842.1, NM_001014842.2 [O15321-2]
NP_001275935.1, NM_001289006.1
NP_006396.2, NM_006405.6 [O15321-1]
UniGeneiHs.91586

Genome annotation databases

EnsembliENST00000261789; ENSP00000261789; ENSG00000100926 [O15321-1]
ENST00000396854; ENSP00000380063; ENSG00000100926 [O15321-2]
ENST00000646500; ENSP00000494851; ENSG00000285465 [O15321-2]
ENST00000646762; ENSP00000494320; ENSG00000285465 [O15321-1]
GeneIDi10548
KEGGihsa:10548
UCSCiuc001wnb.3 human [O15321-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTM9S1_HUMAN
AccessioniPrimary (citable) accession number: O15321
Secondary accession number(s): D3DS65, Q86SZ6, Q96FI8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: March 29, 2005
Last modified: June 20, 2018
This is version 136 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 14
    Human chromosome 14: 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

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