Reviewed, UniProtKB/Swiss-Prot Q96GC9 (TMM49_HUMAN)

Names and origin

Protein names

Recommended name:
    Transmembrane protein 49
Alternative name(s):
    Vacuole membrane protein 1

Gene names

Name:	TMEM49
Synonyms:	TDC1, VMP1
ORF Names:	HSPC292

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	406 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Stress-induced protein that, when overexpressed, promotes formation of intracellular vacuoles followed by cell death. May be involved in the cytoplasmic vacuolization of acinar cells during the early stage of acute pancreatitis By similarity.
Subcellular location	Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein By similarity.
Sequence similarities	Belongs to the TMEM49 family.

Ontologies

Keywords
Cellular component	Membrane
Domain	Transmembrane
Gene Ontology (GO)
Cellular component	ER-Golgi intermediate compartment membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum Inferred from direct assay. Source: LIFEdb integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 406	406	Transmembrane protein 49		PRO_0000284546
Regions
	Topological domain	1 – 43	43	Cytoplasmic Potential
	Transmembrane	44 – 64	21	Potential
	Topological domain	65 – 77	13	Extracellular Potential
	Transmembrane	78 – 98	21	Potential
	Topological domain	99 – 109	11	Cytoplasmic Potential
	Transmembrane	110 – 130	21	Potential
	Topological domain	131 – 250	120	Extracellular Potential
	Transmembrane	251 – 271	21	Potential
	Topological domain	272 – 273	2	Cytoplasmic Potential
	Transmembrane	274 – 294	21	Potential
	Topological domain	295 – 305	11	Extracellular Potential
	Transmembrane	306 – 326	21	Potential
	Topological domain	327 – 363	37	Cytoplasmic Potential
	Transmembrane	364 – 384	21	Potential
	Topological domain	385 – 406	22	Extracellular Potential
Experimental info
	Sequence conflict	179	1	S → F in CAB66646. Ref.3
	Sequence conflict	179	1	S → F in CAG38552. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q96GC9-1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: E9DDE63F80143091	FASTA	406	46,238
	10 20 30 40 50 60 MAENGKNCDQ RRVAMNKEHH NGNFTDPSSV NEKKRREREE RQNIVLWRQP LITLQYFSLE 70 80 90 100 110 120 ILVILKEWTS KLWHRQSIVV SFLLLLAVLI ATYYVEGVHQ QYVQRIEKQF LLYAYWIGLG 130 140 150 160 170 180 ILSSVGLGTG LHTFLLYLGP HIASVTLAAY ECNSVNFPEP PYPDQIICPD EEGTEGTISL 190 200 210 220 230 240 WSIISKVRIE ACMWGIGTAI GELPPYFMAR AARLSGAEPD DEEYQEFEEM LEHAESAQDF 250 260 270 280 290 300 ASRAKLAVQK LVQKVGFFGI LACASIPNPL FDLAGITCGH FLVPFWTFFG ATLIGKAIIK 310 320 330 340 350 360 MHIQKIFVII TFSKHIVEQM VAFIGAVPGI GPSLQKPFQE YLEAQRQKLH HKSEMGTPQG 370 380 390 400 ENWLSWMFEK LVVVMVCYFI LSIINSMAQS YAKRIQQRLN SEEKTK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Gene Tdc1 is a transmembrane domain containing gene that amplified and overexpressed in human breast cancer." Wu G., Couch F.J. Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"A novel lipopolysaccharide-inducible gene (#25)." Yamazaki S., Muta T., Takeshige K. Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney.
[4]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Ovary.
[6]	"Human partial CDS from CD34+ stem cells." Ye M., Zhang Q.-H., Zhou J., Shen Y., Wu X.-Y., Guan Z.Q., Wang L., Fan H.-Y., Mao Y.-F., Dai M., Huang Q.-H., Chen S.-J., Chen Z. Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 243-406. Tissue: Blood.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF214006 mRNA. Translation: AAL36461.1. AB047551 mRNA. Translation: BAF47368.1. AL136711 mRNA. Translation: CAB66646.1. CR533521 mRNA. Translation: CAG38552.1. BC009758 mRNA. Translation: AAH09758.1. AF161410 mRNA. Translation: AAF28970.1.
IPI	IPI00062469.
RefSeq	NP_112200.2.
UniGene	Hs.444569 Hs.708260
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q96GC9.
Genome annotation databases
Ensembl	ENSG00000062716. Homo sapiens. [Contig view]
GeneID	81671.
KEGG	hsa:81671.
Organism-specific databases
GeneCards	GC17P055140.
HGNC	HGNC:29559. TMEM49.
MIM	611753. gene.
PharmGKB	PA142670765.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q96GC9.
OMA	Q96GC9. XIPNPLF.
Gene expression databases
ArrayExpress	Q96GC9.
Bgee	Q96GC9.
CleanEx	HS_TMEM49.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	72028.
SOURCE	Search...

Entry information

Entry name

TMM49_HUMAN

Accession

Primary (citable) accession number: Q96GC9
Secondary accession number(s): Q9H0P4, Q9P089

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 17, 2007
Last sequence update:	December 1, 2001
Last modified:	June 16, 2009
This is version 47 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)