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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.

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. 3 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: September 27, 2017
This is version 106 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