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Protein

Transmembrane 9 superfamily member 1

Gene

TM9SF1

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

Functioni

Plays an essential role in autophagy.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Autophagy

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

HGNCiHGNC:11864. TM9SF1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei237 – 25721HelicalSequence analysisAdd
BLAST
Transmembranei310 – 33021HelicalSequence analysisAdd
BLAST
Transmembranei339 – 35921HelicalSequence analysisAdd
BLAST
Transmembranei373 – 39321HelicalSequence analysisAdd
BLAST
Transmembranei412 – 43221HelicalSequence analysisAdd
BLAST
Transmembranei469 – 48921HelicalSequence analysisAdd
BLAST
Transmembranei499 – 51921HelicalSequence analysisAdd
BLAST
Transmembranei535 – 55521HelicalSequence analysisAdd
BLAST
Transmembranei570 – 59021HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • autophagosome membrane Source: UniProtKB-SubCell
  • cytoplasmic vesicle Source: UniProtKB-KW
  • integral component of membrane Source: ProtInc
  • lysosomal membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36565.

Polymorphism and mutation databases

BioMutaiTM9SF1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence analysisAdd
BLAST
Chaini28 – 606579Transmembrane 9 superfamily member 1PRO_0000034361Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi178 – 1781N-linked (GlcNAc...)Sequence analysis
Glycosylationi401 – 4011N-linked (GlcNAc...)Sequence analysis
Glycosylationi559 – 5591N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO15321.
MaxQBiO15321.
PaxDbiO15321.
PRIDEiO15321.

PTM databases

iPTMnetiO15321.
PhosphoSiteiO15321.

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

BgeeiO15321.
CleanExiHS_TM9SF1.
ExpressionAtlasiO15321. baseline and differential.
GenevisibleiO15321. HS.

Organism-specific databases

HPAiHPA059249.

Interactioni

Protein-protein interaction databases

BioGridi115799. 9 interactions.
IntActiO15321. 6 interactions.
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.
OrthoDBiEOG72C4ZW.
PhylomeDBiO15321.
TreeFamiTF328663.

Family and domain databases

InterProiIPR004240. EMP70.
[Graphical view]
PANTHERiPTHR10766. PTHR10766. 1 hit.
PfamiPF02990. EMP70. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti455 – 4551P → N in AAC51782 (PubMed:9332367).Curated
Sequence conflicti464 – 4641V → D in AAC51782 (PubMed:9332367).Curated
Sequence conflicti514 – 5141C → S in AAC51782 (PubMed:9332367).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181L → M.
Corresponds to variant rs11549700 [ dbSNP | Ensembl ].
VAR_053728
Natural varianti215 – 2151R → H.
Corresponds to variant rs10583 [ dbSNP | Ensembl ].
VAR_024662

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei476 – 606131SAISV…NLKMD → RYPPFIPWLLLSGS in isoform 2. 1 PublicationVSP_042781Add
BLAST

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]
GeneIDi10548.
KEGGihsa:10548.
UCSCiuc001wnb.3. human. [O15321-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO15321.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115799. 9 interactions.
IntActiO15321. 6 interactions.
STRINGi9606.ENSP00000433967.

PTM databases

iPTMnetiO15321.
PhosphoSiteiO15321.

Polymorphism and mutation databases

BioMutaiTM9SF1.

Proteomic databases

EPDiO15321.
MaxQBiO15321.
PaxDbiO15321.
PRIDEiO15321.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10548.
GeneCardsiTM9SF1.
H-InvDBHIX0079613.
HGNCiHGNC:11864. TM9SF1.
HPAiHPA059249.
neXtProtiNX_O15321.
PharmGKBiPA36565.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1277. Eukaryota.
KOG1656. Eukaryota.
ENOG410XSVB. LUCA.
GeneTreeiENSGT00530000062897.
HOGENOMiHOG000216680.
HOVERGENiHBG108585.
InParanoidiO15321.
KOiK17085.
OrthoDBiEOG72C4ZW.
PhylomeDBiO15321.
TreeFamiTF328663.

Miscellaneous databases

ChiTaRSiTM9SF1. human.
GenomeRNAii10548.
NextBioi40007.
PROiO15321.

Gene expression databases

BgeeiO15321.
CleanExiHS_TM9SF1.
ExpressionAtlasiO15321. baseline and differential.
GenevisibleiO15321. HS.

Family and domain databases

InterProiIPR004240. EMP70.
[Graphical view]
PANTHERiPTHR10766. PTHR10766. 1 hit.
PfamiPF02990. EMP70. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of a human multispanning membrane protein cDNA: evidence for a new protein family."
    Chluba-de Tapia J., de Tapia M., Jaeggin V., Eberle A.N.
    Gene 197:195-204(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Melanoma.
  2. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Neuroblastoma and T-cell.
  3. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] (ISOFORM 1).
    Tissue: Pancreas.
  6. "High-throughput functional screening for autophagy-related genes and identification of TM9SF1 as an autophagosome-inducing gene."
    He P., Peng Z., Luo Y., Wang L., Yu P., Deng W., An Y., Shi T., Ma D.
    Autophagy 5:52-60(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiTM9S1_HUMAN
AccessioniPrimary (citable) accession number: O15321
Secondary accession number(s): D3DS65, Q86SZ6, Q96FI8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: March 29, 2005
Last modified: April 13, 2016
This is version 122 of the entry and version 2 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 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

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.