Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

CSC1-like protein 2

Gene

TMEM63B

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

Functioni

Acts as an osmosensitive calcium-permeable cation channel.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium

Protein family/group databases

TCDBi1.A.17.5.3. the calcium-dependent chloride channel (ca-clc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
CSC1-like protein 2
Alternative name(s):
Transmembrane protein 63B
Gene namesi
Name:TMEM63B
Synonyms:C6orf110
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:17735. TMEM63B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei41 – 6121HelicalSequence analysisAdd
BLAST
Transmembranei158 – 17821HelicalSequence analysisAdd
BLAST
Transmembranei203 – 22321HelicalSequence analysisAdd
BLAST
Transmembranei435 – 45521HelicalSequence analysisAdd
BLAST
Transmembranei481 – 50121HelicalSequence analysisAdd
BLAST
Transmembranei521 – 54121HelicalSequence analysisAdd
BLAST
Transmembranei560 – 58021HelicalSequence analysisAdd
BLAST
Transmembranei630 – 65021HelicalSequence analysisAdd
BLAST
Transmembranei678 – 69821HelicalSequence analysisAdd
BLAST
Transmembranei711 – 73121HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134911221.

Polymorphism and mutation databases

BioMutaiTMEM63B.
DMDMi74744754.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 832832CSC1-like protein 2PRO_0000280728Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei111 – 1111PhosphoserineBy similarity
Modified residuei113 – 1131PhosphoserineBy similarity
Modified residuei114 – 1141PhosphoserineCombined sources
Modified residuei115 – 1151PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5T3F8.
MaxQBiQ5T3F8.
PaxDbiQ5T3F8.
PRIDEiQ5T3F8.

PTM databases

iPTMnetiQ5T3F8.
PhosphoSiteiQ5T3F8.
SwissPalmiQ5T3F8.

Expressioni

Gene expression databases

BgeeiQ5T3F8.
CleanExiHS_TMEM63B.
ExpressionAtlasiQ5T3F8. baseline and differential.
GenevisibleiQ5T3F8. HS.

Organism-specific databases

HPAiHPA029249.
HPA029251.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
Tmem63bQ3TWI91EBI-2553509,EBI-2553501From a different organism.

Protein-protein interaction databases

BioGridi120640. 91 interactions.
IntActiQ5T3F8. 75 interactions.
STRINGi9606.ENSP00000259746.

Structurei

3D structure databases

ProteinModelPortaliQ5T3F8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1134. Eukaryota.
COG5594. LUCA.
GeneTreeiENSGT00390000011855.
HOVERGENiHBG056752.
InParanoidiQ5T3F8.
OMAiSMINPKP.
OrthoDBiEOG7HTHG9.
PhylomeDBiQ5T3F8.
TreeFamiTF324300.

Family and domain databases

Gene3Di3.30.70.330. 2 hits.
InterProiIPR032880. Csc1_N.
IPR012677. Nucleotide-bd_a/b_plait.
IPR027815. PHM7_cyt.
IPR003864. RSN1_7TM.
[Graphical view]
PfamiPF14703. PHM7_cyt. 1 hit.
PF02714. RSN1_7TM. 1 hit.
PF13967. RSN1_TM. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5T3F8-1) [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
MLPFLLATLG TTALNNSNPK DYCYSARIRS TVLQGLPFGG VPTVLALDFM
60 70 80 90 100
CFLALLFLFS ILRKVAWDYG RLALVTDADR LRRQERDRVE QEYVASAMHG
110 120 130 140 150
DSHDRYERLT SVSSSVDFDQ RDNGFCSWLT AIFRIKDDEI RDKCGGDAVH
160 170 180 190 200
YLSFQRHIIG LLVVVGVLSV GIVLPVNFSG DLLENNAYSF GRTTIANLKS
210 220 230 240 250
GNNLLWLHTS FAFLYLLLTV YSMRRHTSKM RYKEDDLVKR TLFINGISKY
260 270 280 290 300
AESEKIKKHF EEAYPNCTVL EARPCYNVAR LMFLDAERKK AERGKLYFTN
310 320 330 340 350
LQSKENVPTM INPKPCGHLC CCVVRGCEQV EAIEYYTKLE QKLKEDYKRE
360 370 380 390 400
KEKVNEKPLG MAFVTFHNET ITAIILKDFN VCKCQGCTCR GEPRPSSCSE
410 420 430 440 450
SLHISNWTVS YAPDPQNIYW EHLSIRGFIW WLRCLVINVV LFILLFFLTT
460 470 480 490 500
PAIIITTMDK FNVTKPVEYL NNPIITQFFP TLLLWCFSAL LPTIVYYSAF
510 520 530 540 550
FEAHWTRSGE NRTTMHKCYT FLIFMVLLLP SLGLSSLDLF FRWLFDKKFL
560 570 580 590 600
AEAAIRFECV FLPDNGAFFV NYVIASAFIG NAMDLLRIPG LLMYMIRLCL
610 620 630 640 650
ARSAAERRNV KRHQAYEFQF GAAYAWMMCV FTVVMTYSIT CPIIVPFGLM
660 670 680 690 700
YMLLKHLVDR YNLYYAYLPA KLDKKIHSGA VNQVVAAPIL CLFWLLFFST
710 720 730 740 750
MRTGFLAPTS MFTFVVLVIT IVICLCHVCF GHFKYLSAHN YKIEHTETDT
760 770 780 790 800
VDPRSNGRPP TAAAVPKSAK YIAQVLQDSE VDGDGDGAPG SSGDEPPSSS
810 820 830
SQDEELLMPP DALTDTDFQS CEDSLIENEI HQ
Length:832
Mass (Da):94,958
Last modified:December 21, 2004 - v1
Checksum:i8F28F9DBBA1A6A62
GO
Isoform 2 (identifier: Q5T3F8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     472-491: NPIITQFFPTLLLWCFSALL → VRPHAPVTFHAGSQHTDTRP
     492-832: Missing.

Note: No experimental confirmation available.
Show »
Length:491
Mass (Da):56,308
Checksum:i9A823D414C870C22
GO
Isoform 3 (identifier: Q5T3F8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     704-704: G → D
     705-832: Missing.

Note: No experimental confirmation available.
Show »
Length:704
Mass (Da):81,177
Checksum:i6F5E869C92901E74
GO

Sequence cautioni

The sequence CAH10540.1 differs from that shown. Reason: Frameshift at position 647. Curated
The sequence CAI20530.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti298 – 2981F → L in BAC04207 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti307 – 3071V → M.1 Publication
Corresponds to variant rs4714759 [ dbSNP | Ensembl ].
VAR_031192

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei472 – 49120NPIIT…FSALL → VRPHAPVTFHAGSQHTDTRP in isoform 2. 1 PublicationVSP_023889Add
BLAST
Alternative sequencei492 – 832341Missing in isoform 2. 1 PublicationVSP_023890Add
BLAST
Alternative sequencei704 – 7041G → D in isoform 3. 1 PublicationVSP_023891
Alternative sequencei705 – 832128Missing in isoform 3. 1 PublicationVSP_023892Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093629 mRNA. Translation: BAC04207.1.
AL353957 mRNA. Translation: CAB89257.1.
AL834238 mRNA. Translation: CAD38916.1.
CR627460 mRNA. Translation: CAH10540.1. Frameshift.
AL365192 Genomic DNA. Translation: CAI20530.1. Sequence problems.
AL365192 Genomic DNA. Translation: CAI20531.1.
BC062989 mRNA. Translation: AAH62989.1.
BC136769 mRNA. Translation: AAI36770.1.
CCDSiCCDS34461.1. [Q5T3F8-1]
PIRiT48692.
RefSeqiNP_001305721.1. NM_001318792.1. [Q5T3F8-1]
NP_060896.1. NM_018426.2. [Q5T3F8-1]
XP_005249270.1. XM_005249213.3. [Q5T3F8-1]
XP_005249274.1. XM_005249217.1. [Q5T3F8-1]
XP_006715198.1. XM_006715135.1. [Q5T3F8-1]
UniGeneiHs.414473.

Genome annotation databases

EnsembliENST00000259746; ENSP00000259746; ENSG00000137216. [Q5T3F8-1]
ENST00000323267; ENSP00000327154; ENSG00000137216. [Q5T3F8-1]
GeneIDi55362.
KEGGihsa:55362.
UCSCiuc003owr.4. human. [Q5T3F8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093629 mRNA. Translation: BAC04207.1.
AL353957 mRNA. Translation: CAB89257.1.
AL834238 mRNA. Translation: CAD38916.1.
CR627460 mRNA. Translation: CAH10540.1. Frameshift.
AL365192 Genomic DNA. Translation: CAI20530.1. Sequence problems.
AL365192 Genomic DNA. Translation: CAI20531.1.
BC062989 mRNA. Translation: AAH62989.1.
BC136769 mRNA. Translation: AAI36770.1.
CCDSiCCDS34461.1. [Q5T3F8-1]
PIRiT48692.
RefSeqiNP_001305721.1. NM_001318792.1. [Q5T3F8-1]
NP_060896.1. NM_018426.2. [Q5T3F8-1]
XP_005249270.1. XM_005249213.3. [Q5T3F8-1]
XP_005249274.1. XM_005249217.1. [Q5T3F8-1]
XP_006715198.1. XM_006715135.1. [Q5T3F8-1]
UniGeneiHs.414473.

3D structure databases

ProteinModelPortaliQ5T3F8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120640. 91 interactions.
IntActiQ5T3F8. 75 interactions.
STRINGi9606.ENSP00000259746.

Protein family/group databases

TCDBi1.A.17.5.3. the calcium-dependent chloride channel (ca-clc) family.

PTM databases

iPTMnetiQ5T3F8.
PhosphoSiteiQ5T3F8.
SwissPalmiQ5T3F8.

Polymorphism and mutation databases

BioMutaiTMEM63B.
DMDMi74744754.

Proteomic databases

EPDiQ5T3F8.
MaxQBiQ5T3F8.
PaxDbiQ5T3F8.
PRIDEiQ5T3F8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259746; ENSP00000259746; ENSG00000137216. [Q5T3F8-1]
ENST00000323267; ENSP00000327154; ENSG00000137216. [Q5T3F8-1]
GeneIDi55362.
KEGGihsa:55362.
UCSCiuc003owr.4. human. [Q5T3F8-1]

Organism-specific databases

CTDi55362.
GeneCardsiTMEM63B.
H-InvDBHIX0005919.
HGNCiHGNC:17735. TMEM63B.
HPAiHPA029249.
HPA029251.
neXtProtiNX_Q5T3F8.
PharmGKBiPA134911221.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1134. Eukaryota.
COG5594. LUCA.
GeneTreeiENSGT00390000011855.
HOVERGENiHBG056752.
InParanoidiQ5T3F8.
OMAiSMINPKP.
OrthoDBiEOG7HTHG9.
PhylomeDBiQ5T3F8.
TreeFamiTF324300.

Miscellaneous databases

GenomeRNAii55362.
PROiQ5T3F8.

Gene expression databases

BgeeiQ5T3F8.
CleanExiHS_TMEM63B.
ExpressionAtlasiQ5T3F8. baseline and differential.
GenevisibleiQ5T3F8. HS.

Family and domain databases

Gene3Di3.30.70.330. 2 hits.
InterProiIPR032880. Csc1_N.
IPR012677. Nucleotide-bd_a/b_plait.
IPR027815. PHM7_cyt.
IPR003864. RSN1_7TM.
[Graphical view]
PfamiPF14703. PHM7_cyt. 1 hit.
PF02714. RSN1_7TM. 1 hit.
PF13967. RSN1_TM. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Thymus.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 186-832 (ISOFORM 3), VARIANT MET-307.
    Tissue: Endometrial adenocarcinoma and Testis.
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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: Brain and Pancreas.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-114, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiCSCL2_HUMAN
AccessioniPrimary (citable) accession number: Q5T3F8
Secondary accession number(s): B9EGU3
, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: December 21, 2004
Last modified: June 8, 2016
This is version 95 of the entry and version 1 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 6
    Human chromosome 6: 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.