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Protein

Transmembrane protein 44

Gene

TMEM44

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 44
Gene namesi
Name:TMEM44
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:25120. TMEM44.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2929ExtracellularSequence analysisAdd
BLAST
Transmembranei30 – 5021HelicalSequence analysisAdd
BLAST
Topological domaini51 – 6111CytoplasmicSequence analysisAdd
BLAST
Transmembranei62 – 8221HelicalSequence analysisAdd
BLAST
Topological domaini83 – 886ExtracellularSequence analysis
Transmembranei89 – 10921HelicalSequence analysisAdd
BLAST
Topological domaini110 – 13526CytoplasmicSequence analysisAdd
BLAST
Transmembranei136 – 15621HelicalSequence analysisAdd
BLAST
Topological domaini157 – 17923ExtracellularSequence analysisAdd
BLAST
Transmembranei180 – 20021HelicalSequence analysisAdd
BLAST
Topological domaini201 – 25959CytoplasmicSequence analysisAdd
BLAST
Transmembranei260 – 28021HelicalSequence analysisAdd
BLAST
Topological domaini281 – 29414ExtracellularSequence analysisAdd
BLAST
Transmembranei295 – 31521HelicalSequence analysisAdd
BLAST
Topological domaini316 – 475160CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134916107.

Polymorphism and mutation databases

BioMutaiTMEM44.
DMDMi378405227.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 475475Transmembrane protein 44PRO_0000284544Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei465 – 4651PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ2T9K0.
PaxDbiQ2T9K0.
PeptideAtlasiQ2T9K0.
PRIDEiQ2T9K0.

PTM databases

iPTMnetiQ2T9K0.
PhosphoSiteiQ2T9K0.

Expressioni

Gene expression databases

BgeeiENSG00000145014.
CleanExiHS_TMEM44.
ExpressionAtlasiQ2T9K0. baseline and differential.
GenevisibleiQ2T9K0. HS.

Organism-specific databases

HPAiHPA043718.

Interactioni

Protein-protein interaction databases

BioGridi125003. 3 interactions.
IntActiQ2T9K0. 1 interaction.
MINTiMINT-8247498.

Structurei

3D structure databases

ProteinModelPortaliQ2T9K0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJKG. Eukaryota.
ENOG4111HX3. LUCA.
GeneTreeiENSGT00390000018718.
HOGENOMiHOG000285985.
HOVERGENiHBG106604.
InParanoidiQ2T9K0.
OMAiNSDWVPL.
OrthoDBiEOG091G0A58.
PhylomeDBiQ2T9K0.
TreeFamiTF337424.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q2T9K0-1) [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
MGEAPSPAPA LWDWDYLDRC FARHRVCISF GLWICASSCW IAAHALLLYL
60 70 80 90 100
RCAQKPRQDQ SALCAACCLL TSLCDTVGAL LARQLTIQVF TGAYLAAIDL
110 120 130 140 150
VNFMFILFPV CGSKFKSNSD REARERKRRR QLRASVFALA LPLSLGPCWA
160 170 180 190 200
LWVAVPKASA TIRGPQRRLL ASLLQENTEI LGYLLGSVAA FGSWASRIPP
210 220 230 240 250
LSRIAPPPTL GITTQHEIWR GQMSKPSQSP SRSPSGHWRA AAQRQVLGTE
260 270 280 290 300
MCRGKTFPSI HLWTRLLSAL AGLLYASAIV AHDQHPEYLL RATPWFLTSL
310 320 330 340 350
GRAALDLAII FLSCVMKSKM RQALGFAKEA RESPDTQALL TCAEKEEENQ
360 370 380 390 400
ENLDWVPLTT LSHCKSLRTM TAISRYMELT IEPVQQAGCS ATRLPGDGQT
410 420 430 440 450
SAGDASLQDP PSYPPVQVIR ARVSSGSSSE VSSINSDLEW DPEDVNLEGS
460 470
KENVELLGSQ VHQDSVRTAH LSDDD
Note: No experimental confirmation available.
Length:475
Mass (Da):52,201
Last modified:February 22, 2012 - v3
Checksum:i18278671EDCFBDB9
GO
Isoform 2 (identifier: Q2T9K0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-251: Missing.

Note: No experimental confirmation available.
Show »
Length:428
Mass (Da):47,066
Checksum:i407103BBE7B4732A
GO
Isoform 3 (identifier: Q2T9K0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-251: Missing.
     388-443: GCSATRLPGD...INSDLEWDPE → AVPPGCQVTG...TPTWSGTLKM
     444-475: Missing.

Note: No experimental confirmation available.
Show »
Length:396
Mass (Da):43,800
Checksum:i14387863B691C640
GO
Isoform 4 (identifier: Q2T9K0-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-251: Missing.
     439-439: E → EQKYWEALNSEQ

Note: No experimental confirmation available.
Show »
Length:439
Mass (Da):48,444
Checksum:iFA2494D16CCD44AD
GO
Isoform 5 (identifier: Q2T9K0-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-251: Missing.
     439-439: E → EKYWEALNSEQ

Note: No experimental confirmation available.
Show »
Length:438
Mass (Da):48,315
Checksum:i4FD04F29BDDF2A87
GO

Sequence cautioni

The sequence AAH34353 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC86747 differs from that shown.Unlikely isoform. Aberrant splice sites.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241H → N.1 Publication
Corresponds to variant rs1675955 [ dbSNP | Ensembl ].
VAR_031775
Natural varianti232 – 2321R → H.2 Publications
Corresponds to variant rs12695036 [ dbSNP | Ensembl ].
VAR_066998
Natural varianti284 – 2841Q → R.1 Publication
Corresponds to variant rs922282 [ dbSNP | Ensembl ].
VAR_066999

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei205 – 25147Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 1 PublicationVSP_024565Add
BLAST
Alternative sequencei388 – 44356GCSAT…EWDPE → AVPPGCQVTGRRAPEMRPCR TPRRTLPFRSSGPGCLPAAP LRSPPSTPTWSGTLKM in isoform 3. 1 PublicationVSP_024569Add
BLAST
Alternative sequencei439 – 4391E → EQKYWEALNSEQ in isoform 4. CuratedVSP_039211
Alternative sequencei439 – 4391E → EKYWEALNSEQ in isoform 5. 1 PublicationVSP_046357
Alternative sequencei444 – 47532Missing in isoform 3. 1 PublicationVSP_024571Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126914 mRNA. Translation: BAC86747.1. Sequence problems.
AC046143 Genomic DNA. No translation available.
BC034353 mRNA. Translation: AAH34353.1. Different initiation.
BC014883 mRNA. Translation: AAH14883.1.
BC111485 mRNA. Translation: AAI11486.1.
BC130297 mRNA. Translation: AAI30298.1.
BC144158 mRNA. Translation: AAI44159.1.
BC144159 mRNA. Translation: AAI44160.1.
CCDSiCCDS3308.2. [Q2T9K0-7]
CCDS33921.1. [Q2T9K0-2]
CCDS54698.1. [Q2T9K0-4]
CCDS54699.1. [Q2T9K0-1]
RefSeqiNP_001011655.1. NM_001011655.2. [Q2T9K0-2]
NP_001159777.1. NM_001166305.1. [Q2T9K0-1]
NP_001159778.1. NM_001166306.1. [Q2T9K0-4]
NP_612408.3. NM_138399.4. [Q2T9K0-7]
XP_005269428.1. XM_005269371.4. [Q2T9K0-6]
UniGeneiHs.478729.

Genome annotation databases

EnsembliENST00000347147; ENSP00000333355; ENSG00000145014. [Q2T9K0-2]
ENST00000381975; ENSP00000371402; ENSG00000145014. [Q2T9K0-4]
ENST00000392432; ENSP00000376227; ENSG00000145014. [Q2T9K0-1]
ENST00000473092; ENSP00000418674; ENSG00000145014. [Q2T9K0-7]
GeneIDi93109.
KEGGihsa:93109.
UCSCiuc003fue.4. human. [Q2T9K0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126914 mRNA. Translation: BAC86747.1. Sequence problems.
AC046143 Genomic DNA. No translation available.
BC034353 mRNA. Translation: AAH34353.1. Different initiation.
BC014883 mRNA. Translation: AAH14883.1.
BC111485 mRNA. Translation: AAI11486.1.
BC130297 mRNA. Translation: AAI30298.1.
BC144158 mRNA. Translation: AAI44159.1.
BC144159 mRNA. Translation: AAI44160.1.
CCDSiCCDS3308.2. [Q2T9K0-7]
CCDS33921.1. [Q2T9K0-2]
CCDS54698.1. [Q2T9K0-4]
CCDS54699.1. [Q2T9K0-1]
RefSeqiNP_001011655.1. NM_001011655.2. [Q2T9K0-2]
NP_001159777.1. NM_001166305.1. [Q2T9K0-1]
NP_001159778.1. NM_001166306.1. [Q2T9K0-4]
NP_612408.3. NM_138399.4. [Q2T9K0-7]
XP_005269428.1. XM_005269371.4. [Q2T9K0-6]
UniGeneiHs.478729.

3D structure databases

ProteinModelPortaliQ2T9K0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125003. 3 interactions.
IntActiQ2T9K0. 1 interaction.
MINTiMINT-8247498.

PTM databases

iPTMnetiQ2T9K0.
PhosphoSiteiQ2T9K0.

Polymorphism and mutation databases

BioMutaiTMEM44.
DMDMi378405227.

Proteomic databases

MaxQBiQ2T9K0.
PaxDbiQ2T9K0.
PeptideAtlasiQ2T9K0.
PRIDEiQ2T9K0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347147; ENSP00000333355; ENSG00000145014. [Q2T9K0-2]
ENST00000381975; ENSP00000371402; ENSG00000145014. [Q2T9K0-4]
ENST00000392432; ENSP00000376227; ENSG00000145014. [Q2T9K0-1]
ENST00000473092; ENSP00000418674; ENSG00000145014. [Q2T9K0-7]
GeneIDi93109.
KEGGihsa:93109.
UCSCiuc003fue.4. human. [Q2T9K0-1]

Organism-specific databases

CTDi93109.
GeneCardsiTMEM44.
HGNCiHGNC:25120. TMEM44.
HPAiHPA043718.
neXtProtiNX_Q2T9K0.
PharmGKBiPA134916107.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJKG. Eukaryota.
ENOG4111HX3. LUCA.
GeneTreeiENSGT00390000018718.
HOGENOMiHOG000285985.
HOVERGENiHBG106604.
InParanoidiQ2T9K0.
OMAiNSDWVPL.
OrthoDBiEOG091G0A58.
PhylomeDBiQ2T9K0.
TreeFamiTF337424.

Miscellaneous databases

GenomeRNAii93109.
PROiQ2T9K0.

Gene expression databases

BgeeiENSG00000145014.
CleanExiHS_TMEM44.
ExpressionAtlasiQ2T9K0. baseline and differential.
GenevisibleiQ2T9K0. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiTMM44_HUMAN
AccessioniPrimary (citable) accession number: Q2T9K0
Secondary accession number(s): A1L3V7
, B7ZLZ5, B7ZLZ6, C9JJ62, E9PGA9, Q0P6F7, Q6ZT47, Q8IXR1, Q8N4G3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: February 22, 2012
Last modified: September 7, 2016
This is version 79 of the entry and version 3 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 3
    Human chromosome 3: 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

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.