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Protein

Calfacilitin

Gene

TLCD1

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

Functioni

Calcium channel facilitator that increases calcium flux by generating a larger window current and slowing inactivation of the L-type CACNA1C/CaV1.2 channel. Regulation of intracellular calcium by Calfacilitin is required for neural plate formation (By similarity).By similarity

Keywordsi

LigandCalcium

Names & Taxonomyi

Protein namesi
Recommended name:
Calfacilitin
Alternative name(s):
TLC domain-containing protein 1
Gene namesi
Name:TLCD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000160606.10
HGNCiHGNC:25177 TLCD1
neXtProtiNX_Q96CP7

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
Topological domaini36 – 46ExtracellularSequence analysisAdd BLAST11
Transmembranei47 – 67HelicalSequence analysisAdd BLAST21
Topological domaini68 – 83CytoplasmicSequence analysisAdd BLAST16
Transmembranei84 – 104HelicalSequence analysisAdd BLAST21
Topological domaini105 – 123ExtracellularSequence analysisAdd BLAST19
Intramembranei124 – 144HelicalSequence analysisAdd BLAST21
Topological domaini145 – 173ExtracellularSequence analysisAdd BLAST29
Transmembranei174 – 194HelicalSequence analysisAdd BLAST21
Topological domaini195 – 201CytoplasmicSequence analysis7
Transmembranei202 – 222HelicalSequence analysisAdd BLAST21
Topological domaini223 – 247ExtracellularSequence analysisAdd BLAST25

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000160606
PharmGKBiPA142670807

Polymorphism and mutation databases

BioMutaiTLCD1
DMDMi74731368

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000028567736 – 247CalfacilitinAdd BLAST212

Proteomic databases

EPDiQ96CP7
MaxQBiQ96CP7
PaxDbiQ96CP7
PeptideAtlasiQ96CP7
PRIDEiQ96CP7
ProteomicsDBi76206

PTM databases

iPTMnetiQ96CP7
PhosphoSitePlusiQ96CP7
SwissPalmiQ96CP7

Expressioni

Gene expression databases

BgeeiENSG00000160606
CleanExiHS_TLCD1
ExpressionAtlasiQ96CP7 baseline and differential
GenevisibleiQ96CP7 HS

Organism-specific databases

HPAiHPA042366

Interactioni

Subunit structurei

Interacts with CACNA1C.By similarity

Protein-protein interaction databases

BioGridi125493, 5 interactors
IntActiQ96CP7, 10 interactors
STRINGi9606.ENSP00000292090

Structurei

3D structure databases

ProteinModelPortaliQ96CP7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 234TLCPROSITE-ProRule annotationAdd BLAST195

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4474 Eukaryota
ENOG410Z5I9 LUCA
GeneTreeiENSGT00520000055611
HOGENOMiHOG000015396
HOVERGENiHBG100100
InParanoidiQ96CP7
OMAiCVWQTPE
OrthoDBiEOG091G0ESY
PhylomeDBiQ96CP7
TreeFamiTF315115

Family and domain databases

InterProiView protein in InterPro
IPR006634 TLC-dom
PfamiView protein in Pfam
PF03798 TRAM_LAG1_CLN8, 1 hit
SMARTiView protein in SMART
SM00724 TLC, 1 hit
PROSITEiView protein in PROSITE
PS50922 TLC, 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: Q96CP7-1) [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
MPRLLHPALP LLLGATLTFR ALRRALCRLP LPVHVRADPL RTWRWHNLLV
60 70 80 90 100
SFAHSIVSGI WALLCVWQTP DMLVEIETAW SLSGYLLVCF SAGYFIHDTV
110 120 130 140 150
DIVASGQTRA SWEYLVHHVM AMGAFFSGIF WSSFVGGGVL TLLVEVSNIF
160 170 180 190 200
LTIRMMMKIS NAQDHLLYRV NKYVNLVMYF LFRLAPQAYL THFFLRYVNQ
210 220 230 240
RTLGTFLLGI LLMLDVMIII YFSRLLRSDF CPEHVPKKQH KDKFLTE
Length:247
Mass (Da):28,548
Last modified:December 1, 2001 - v1
Checksum:iD23777D955BAB447
GO
Isoform 2 (identifier: Q96CP7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MPRLLHPALP...IVSGIWALLC → MGYSAVPKCPPRGRGRDS

Note: Gene prediction based on EST data.
Show »
Length:200
Mass (Da):23,054
Checksum:i43835DCCE419172A
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0557261 – 65MPRLL…WALLC → MGYSAVPKCPPRGRGRDS in isoform 2. 1 PublicationAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010761 Genomic DNA No translation available.
CH471159 Genomic DNA Translation: EAW51134.1
BC014072 mRNA Translation: AAH14072.1
CCDSiCCDS11242.1 [Q96CP7-1]
CCDS54102.1 [Q96CP7-2]
RefSeqiNP_001153879.1, NM_001160407.1 [Q96CP7-2]
NP_612472.1, NM_138463.3 [Q96CP7-1]
UniGeneiHs.499952

Genome annotation databases

EnsembliENST00000292090; ENSP00000292090; ENSG00000160606 [Q96CP7-1]
ENST00000394933; ENSP00000378391; ENSG00000160606 [Q96CP7-2]
GeneIDi116238
KEGGihsa:116238
UCSCiuc002hco.4 human [Q96CP7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTLCD1_HUMAN
AccessioniPrimary (citable) accession number: Q96CP7
Secondary accession number(s): A8MYP9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 1, 2001
Last modified: July 18, 2018
This is version 108 of the entry and version 1 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

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